diff --git a/build.xml b/build.xml index e92e41c10..03f3232f2 100644 --- a/build.xml +++ b/build.xml @@ -669,21 +669,13 @@ - - - - - - - - - + @@ -753,7 +745,7 @@ - + @@ -873,14 +865,18 @@ - - + + + + + + @@ -929,12 +925,17 @@ + + - + + + + @@ -1081,7 +1082,7 @@ - + @@ -1112,7 +1113,7 @@ - + @@ -1122,7 +1123,7 @@ - + @@ -1252,7 +1253,7 @@ listeners="org.testng.reporters.FailedReporter,org.testng.reporters.JUnitXMLReporter,org.broadinstitute.sting.TestNGTestTransformer,org.broadinstitute.sting.StingTextReporter,org.uncommons.reportng.HTMLReporter"> - + @@ -1295,7 +1296,7 @@ - + @@ -1450,4 +1451,30 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/ivy.xml b/ivy.xml index 1802c1627..ed13af1c2 100644 --- a/ivy.xml +++ b/ivy.xml @@ -35,9 +35,14 @@ + + + + + @@ -81,9 +86,10 @@ - + + diff --git a/protected/java/src/org/broadinstitute/sting/gatk/arguments/StandardCallerArgumentCollection.java b/protected/java/src/org/broadinstitute/sting/gatk/arguments/StandardCallerArgumentCollection.java index 3a1532bb1..a47e417c4 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/arguments/StandardCallerArgumentCollection.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/arguments/StandardCallerArgumentCollection.java @@ -50,10 +50,13 @@ import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.walkers.genotyper.GenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine; import org.broadinstitute.sting.gatk.walkers.genotyper.afcalc.AFCalcFactory; +import org.broadinstitute.sting.utils.collections.DefaultHashMap; import org.broadinstitute.variant.variantcontext.VariantContext; import java.io.File; import java.io.PrintStream; +import java.util.Collections; +import java.util.Map; /** * Created with IntelliJ IDEA. @@ -118,6 +121,33 @@ public class StandardCallerArgumentCollection { public double CONTAMINATION_FRACTION = DEFAULT_CONTAMINATION_FRACTION; public static final double DEFAULT_CONTAMINATION_FRACTION = 0.05; + /** + * This argument specifies a file with two columns "sample" and "contamination" specifying the contamination level for those samples. + * Samples that do not appear in this file will be processed with CONTAMINATION_FRACTION + **/ + @Advanced + @Argument(fullName = "contamination_fraction_per_sample_file", shortName = "contaminationFile", doc = "Tab-separated File containing fraction of contamination in sequencing data (per sample) to aggressively remove. Format should be \"\" (Contamination is double) per line; No header.", required = false) + public File CONTAMINATION_FRACTION_FILE = null; + + /** + * + * @return an _Immutable_ copy of the Sample-Contamination Map, defaulting to CONTAMINATION_FRACTION so that if the sample isn't in the map map(sample)==CONTAMINATION_FRACTION + */ + public Map getSampleContamination(){ + //make sure that the default value is set up right + sampleContamination.setDefaultValue(CONTAMINATION_FRACTION); + return Collections.unmodifiableMap(sampleContamination); + } + + public void setSampleContamination(DefaultHashMap sampleContamination) { + this.sampleContamination.clear(); + this.sampleContamination.putAll(sampleContamination); + this.sampleContamination.setDefaultValue(CONTAMINATION_FRACTION); + } + + //Needs to be here because it uses CONTAMINATION_FRACTION + private DefaultHashMap sampleContamination = new DefaultHashMap(CONTAMINATION_FRACTION); + /** * Controls the model used to calculate the probability that a site is variant plus the various sample genotypes in the data at a given locus. */ @@ -145,8 +175,10 @@ public class StandardCallerArgumentCollection { this.STANDARD_CONFIDENCE_FOR_CALLING = SCAC.STANDARD_CONFIDENCE_FOR_CALLING; this.STANDARD_CONFIDENCE_FOR_EMITTING = SCAC.STANDARD_CONFIDENCE_FOR_EMITTING; this.CONTAMINATION_FRACTION = SCAC.CONTAMINATION_FRACTION; + this.CONTAMINATION_FRACTION_FILE=SCAC.CONTAMINATION_FRACTION_FILE; this.contaminationLog = SCAC.contaminationLog; this.exactCallsLog = SCAC.exactCallsLog; + this.sampleContamination=SCAC.sampleContamination; this.AFmodel = SCAC.AFmodel; } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/Coverage.java similarity index 99% rename from protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java rename to protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/Coverage.java index 4adb2ca71..5138ac9af 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/Coverage.java @@ -75,7 +75,7 @@ import java.util.Map; * over all samples. Note though that the DP is affected by downsampling (-dcov), so the max value one can obtain for * N samples with -dcov D is N * D */ -public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { +public class Coverage extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public Map annotate(final RefMetaDataTracker tracker, final AnnotatorCompatible walker, diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java index ff3d7940f..14c785678 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java @@ -142,7 +142,7 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat public List getDescriptions() { return Arrays.asList( - new VCFInfoHeaderLine(FS, 1, VCFHeaderLineType.Float, "Phred-scaled p-value using Fisher's exact test to detect strand bias")); + new VCFInfoHeaderLine(FS, 1, VCFHeaderLineType.Float, "Phred-scaled p-value using Fisher's exact test to detect strand bias")); } private Double pValueForContingencyTable(int[][] originalTable) { @@ -176,7 +176,8 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat //System.out.printf("P-cutoff: %f\n", pCutoff); //System.out.printf("P-value: %f\n\n", pValue); - return pValue; + // min is necessary as numerical precision can result in pValue being slightly greater than 1.0 + return Math.min(pValue, 1.0); } private static int [][] copyContingencyTable(int [][] t) { @@ -222,14 +223,14 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat // calculate in log space so we don't die with high numbers double pCutoff = Arithmetic.logFactorial(rowSums[0]) - + Arithmetic.logFactorial(rowSums[1]) - + Arithmetic.logFactorial(colSums[0]) - + Arithmetic.logFactorial(colSums[1]) - - Arithmetic.logFactorial(table[0][0]) - - Arithmetic.logFactorial(table[0][1]) - - Arithmetic.logFactorial(table[1][0]) - - Arithmetic.logFactorial(table[1][1]) - - Arithmetic.logFactorial(N); + + Arithmetic.logFactorial(rowSums[1]) + + Arithmetic.logFactorial(colSums[0]) + + Arithmetic.logFactorial(colSums[1]) + - Arithmetic.logFactorial(table[0][0]) + - Arithmetic.logFactorial(table[0][1]) + - Arithmetic.logFactorial(table[1][0]) + - Arithmetic.logFactorial(table[1][1]) + - Arithmetic.logFactorial(N); return Math.exp(pCutoff); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java index 93bdf8c9d..48b3593c5 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java @@ -55,6 +55,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAn import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFHeaderLineType; import org.broadinstitute.variant.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; @@ -69,7 +70,7 @@ import java.util.Map; /** * The GC content (# GC bases / # all bases) of the reference within 50 bp +/- this site */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class GCContent extends InfoFieldAnnotation implements ExperimentalAnnotation { public Map annotate(final RefMetaDataTracker tracker, diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java index 13969eb54..0455290e3 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java @@ -91,8 +91,6 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot final Map stratifiedPerReadAlleleLikelihoodMap) { if (vc.isSNP() && stratifiedContexts != null) return annotatePileup(ref, stratifiedContexts, vc); - else if (stratifiedPerReadAlleleLikelihoodMap != null && vc.isVariant()) - return annotateWithLikelihoods(stratifiedPerReadAlleleLikelihoodMap, vc); else return null; } @@ -133,31 +131,6 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot return map; } - private Map annotateWithLikelihoods(final Map stratifiedPerReadAlleleLikelihoodMap, - final VariantContext vc) { - - final MathUtils.RunningAverage scoreRA = new MathUtils.RunningAverage(); - for (final Genotype genotype : vc.getGenotypes()) { - final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = stratifiedPerReadAlleleLikelihoodMap.get(genotype.getSampleName()); - if (perReadAlleleLikelihoodMap == null) - continue; - - Double d = scoreIndelsAgainstHaplotypes(perReadAlleleLikelihoodMap); - if (d == null) - continue; - scoreRA.add(d); // Taking the simple average of all sample's score since the score can be negative and the RMS doesn't make sense - } - - // if (scoreRA.observationCount() == 0) - // return null; - - // annotate the score in the info field - final Map map = new HashMap(); - map.put(getKeyNames().get(0), String.format("%.4f", scoreRA.mean())); - return map; - - } - private static class HaplotypeComparator implements Comparator, Serializable { public int compare(Haplotype a, Haplotype b) { @@ -180,7 +153,8 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot for (final PileupElement p : pileup) { final Haplotype haplotypeFromRead = getHaplotypeFromRead(p, contextSize, locus); - candidateHaplotypeQueue.add(haplotypeFromRead); + if ( haplotypeFromRead != null ) + candidateHaplotypeQueue.add(haplotypeFromRead); } // Now that priority queue has been built with all reads at context, we need to merge and find possible segregating haplotypes @@ -230,8 +204,18 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot return null; } + /** + * Return a haplotype object constructed from the read or null if read's cigar is null + * + * @param p pileup element representing the read + * @param contextSize the context size to use + * @param locus the position + * @return possibly null Haplotype object constructed from the read + */ private Haplotype getHaplotypeFromRead(final PileupElement p, final int contextSize, final int locus) { final GATKSAMRecord read = p.getRead(); + if ( read.getCigar() == null ) + return null; final byte[] haplotypeBases = new byte[contextSize]; Arrays.fill(haplotypeBases, (byte) REGEXP_WILDCARD); @@ -347,6 +331,10 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot double expected = 0.0; double mismatches = 0.0; + final GATKSAMRecord read = p.getRead(); + if ( read.getCigar() == null ) + return 0.0; + // What's the expected mismatch rate under the model that this read is actually sampled from // this haplotype? Let's assume the consensus base c is a random choice one of A, C, G, or T, and that // the observed base is actually from a c with an error rate e. Since e is the rate at which we'd @@ -358,14 +346,12 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot // the chance that it is actually a mismatch is 1 - e, since any of the other 3 options would be a mismatch. // so the probability-weighted mismatch rate is sum_i ( matched ? e_i / 3 : 1 - e_i ) for i = 1 ... n final byte[] haplotypeBases = haplotype.getBases(); - final GATKSAMRecord read = p.getRead(); byte[] readBases = read.getReadBases(); readBases = AlignmentUtils.readToAlignmentByteArray(p.getRead().getCigar(), readBases); // Adjust the read bases based on the Cigar string byte[] readQuals = read.getBaseQualities(); readQuals = AlignmentUtils.readToAlignmentByteArray(p.getRead().getCigar(), readQuals); // Shift the location of the qual scores based on the Cigar string - int readOffsetFromPileup = p.getOffset(); - readOffsetFromPileup = AlignmentUtils.calcAlignmentByteArrayOffset(p.getRead().getCigar(), p, read.getAlignmentStart(), locus); + int readOffsetFromPileup = AlignmentUtils.calcAlignmentByteArrayOffset(p.getRead().getCigar(), p, read.getAlignmentStart(), locus); final int baseOffsetStart = readOffsetFromPileup - (contextSize - 1) / 2; for (int i = 0; i < contextSize; i++) { @@ -399,39 +385,6 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot return mismatches - expected; } - - private Double scoreIndelsAgainstHaplotypes(final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap) { - final ArrayList haplotypeScores = new ArrayList(); - - if (perReadAlleleLikelihoodMap.isEmpty()) - return null; - - for (Map el : perReadAlleleLikelihoodMap.getLikelihoodMapValues()) { - - // retrieve likelihood information corresponding to this read - // Score all the reads in the pileup, even the filtered ones - final double[] scores = new double[el.size()]; - int i = 0; - for (Map.Entry a : el.entrySet()) { - scores[i++] = -a.getValue(); - if (DEBUG) { - System.out.printf(" vs. haplotype %d = %f%n", i - 1, scores[i - 1]); - } - } - - haplotypeScores.add(scores); - } - - // indel likelihoods are strict log-probs, not phred scored - double overallScore = 0.0; - for (final double[] readHaplotypeScores : haplotypeScores) { - overallScore += MathUtils.arrayMin(readHaplotypeScores); - } - - return overallScore; - - } - public List getKeyNames() { return Arrays.asList("HaplotypeScore"); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java index ddca5e0b8..ae0d2a87b 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java @@ -87,7 +87,7 @@ public class ReadPosRankSumTest extends RankSumTest implements StandardAnnotatio if (alleleLikelihoodMap == null) { // use old UG SNP-based version if we don't have per-read allele likelihoods for ( final PileupElement p : pileup ) { - if ( isUsableBase(p) ) { + if ( isUsableBase(p) && p.getRead().getCigar() != null ) { int readPos = AlignmentUtils.calcAlignmentByteArrayOffset(p.getRead().getCigar(), p, 0, 0); readPos = getFinalReadPosition(p.getRead(),readPos); @@ -103,26 +103,26 @@ public class ReadPosRankSumTest extends RankSumTest implements StandardAnnotatio } for (Map.Entry> el : alleleLikelihoodMap.getLikelihoodReadMap().entrySet()) { + final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue()); + if (a.isNoCall()) + continue; // read is non-informative + final GATKSAMRecord read = el.getKey(); + if ( read.getSoftStart() + read.getCigar().getReadLength() <= refLoc ) { // make sure the read actually covers the requested ref loc + continue; + } final int offset = ReadUtils.getReadCoordinateForReferenceCoordinate( read.getSoftStart(), read.getCigar(), refLoc, ReadUtils.ClippingTail.RIGHT_TAIL, true ); - if ( offset == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) + if ( offset == ReadUtils.CLIPPING_GOAL_NOT_REACHED || read.getCigar() == null ) continue; int readPos = AlignmentUtils.calcAlignmentByteArrayOffset( read.getCigar(), offset, false, 0, 0 ); final int numAlignedBases = AlignmentUtils.getNumAlignedBasesCountingSoftClips( read ); if (readPos > numAlignedBases / 2) readPos = numAlignedBases - (readPos + 1); -// int readPos = getOffsetFromClippedReadStart(el.getKey(), el.getKey().getOffset()); - // readPos = getFinalReadPosition(el.getKey().getRead(),readPos); - - final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue()); - if (a.isNoCall()) - continue; // read is non-informative if (a.isReference()) refQuals.add((double)readPos); else if (allAlleles.contains(a)) altQuals.add((double)readPos); - } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java index 354e508c2..e1972334b 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/BaseRecalibrator.java @@ -67,6 +67,7 @@ import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.recalibration.*; import org.broadinstitute.sting.utils.recalibration.covariates.Covariate; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -127,7 +128,7 @@ import java.util.List; * */ -@DocumentedGATKFeature(groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class}) +@DocumentedGATKFeature(groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class}) @BAQMode(ApplicationTime = ReadTransformer.ApplicationTime.FORBIDDEN) @ReadFilters({MappingQualityZeroFilter.class, MappingQualityUnavailableFilter.class, UnmappedReadFilter.class, NotPrimaryAlignmentFilter.class, DuplicateReadFilter.class, FailsVendorQualityCheckFilter.class}) @PartitionBy(PartitionType.READ) @@ -214,6 +215,7 @@ public class BaseRecalibrator extends ReadWalker implements NanoSche } initializeRecalibrationEngine(); + RecalUtils.checkForInvalidRecalBams(getToolkit().getSAMFileHeaders(), getToolkit().getArguments().ALLOW_BQSR_ON_REDUCED_BAMS); minimumQToUse = getToolkit().getArguments().PRESERVE_QSCORES_LESS_THAN; referenceReader = getToolkit().getReferenceDataSource().getReference(); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadRecalibrationInfo.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadRecalibrationInfo.java index 83d5bb29b..94d1c5501 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadRecalibrationInfo.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/ReadRecalibrationInfo.java @@ -179,6 +179,6 @@ public final class ReadRecalibrationInfo { } private boolean validQual(final byte result) { - return result >= 0 && result <= QualityUtils.MAX_QUAL_SCORE; + return result >= 0 && result <= QualityUtils.MAX_SAM_QUAL_SCORE; } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java index 95b54102f..5ab296a5f 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/RecalibrationArgumentCollection.java @@ -262,8 +262,12 @@ public class RecalibrationArgumentCollection { argumentsTable.set("indels_context_size", RecalUtils.ARGUMENT_VALUE_COLUMN_NAME, INDELS_CONTEXT_SIZE); argumentsTable.addRowID("mismatches_default_quality", true); argumentsTable.set("mismatches_default_quality", RecalUtils.ARGUMENT_VALUE_COLUMN_NAME, MISMATCHES_DEFAULT_QUALITY); + argumentsTable.addRowID("deletions_default_quality", true); + argumentsTable.set("deletions_default_quality", RecalUtils.ARGUMENT_VALUE_COLUMN_NAME, DELETIONS_DEFAULT_QUALITY); argumentsTable.addRowID("insertions_default_quality", true); argumentsTable.set("insertions_default_quality", RecalUtils.ARGUMENT_VALUE_COLUMN_NAME, INSERTIONS_DEFAULT_QUALITY); + argumentsTable.addRowID("maximum_cycle_value", true); + argumentsTable.set("maximum_cycle_value", RecalUtils.ARGUMENT_VALUE_COLUMN_NAME, MAXIMUM_CYCLE_VALUE); argumentsTable.addRowID("low_quality_tail", true); argumentsTable.set("low_quality_tail", RecalUtils.ARGUMENT_VALUE_COLUMN_NAME, LOW_QUAL_TAIL); argumentsTable.addRowID("default_platform", true); diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java index 207590c5f..c7b990a88 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseAndQualsCounts.java @@ -53,42 +53,82 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; * @since 6/15/12 */ public class BaseAndQualsCounts extends BaseCounts { - private final long[] sumInsertionQuals; - private final long[] sumDeletionQuals; - public BaseAndQualsCounts() { - super(); - this.sumInsertionQuals = new long[BaseIndex.values().length]; - this.sumDeletionQuals = new long[BaseIndex.values().length]; - for (final BaseIndex i : BaseIndex.values()) { - sumInsertionQuals[i.index] = 0L; - sumDeletionQuals[i.index] = 0L; - } - } + private long sumInsertionQual_A = 0; + private long sumDeletionQual_A = 0; + private long sumInsertionQual_C = 0; + private long sumDeletionQual_C = 0; + private long sumInsertionQual_G = 0; + private long sumDeletionQual_G = 0; + private long sumInsertionQual_T = 0; + private long sumDeletionQual_T = 0; + private long sumInsertionQual_D = 0; + private long sumDeletionQual_D = 0; + private long sumInsertionQual_I = 0; + private long sumDeletionQual_I = 0; + private long sumInsertionQual_N = 0; + private long sumDeletionQual_N = 0; + public void incr(final byte base, final byte baseQual, final byte insQual, final byte delQual) { final BaseIndex i = BaseIndex.byteToBase(base); super.incr(i, baseQual); - sumInsertionQuals[i.index] += insQual; - sumDeletionQuals[i.index] += delQual; + switch (i) { + case A: sumInsertionQual_A += insQual; sumDeletionQual_A += delQual; break; + case C: sumInsertionQual_C += insQual; sumDeletionQual_C += delQual; break; + case G: sumInsertionQual_G += insQual; sumDeletionQual_G += delQual; break; + case T: sumInsertionQual_T += insQual; sumDeletionQual_T += delQual; break; + case D: sumInsertionQual_D += insQual; sumDeletionQual_D += delQual; break; + case I: sumInsertionQual_I += insQual; sumDeletionQual_I += delQual; break; + case N: sumInsertionQual_N += insQual; sumDeletionQual_N += delQual; break; + } } public void decr(final byte base, final byte baseQual, final byte insQual, final byte delQual) { final BaseIndex i = BaseIndex.byteToBase(base); super.decr(i, baseQual); - sumInsertionQuals[i.index] -= insQual; - sumDeletionQuals[i.index] -= delQual; + switch (i) { + case A: sumInsertionQual_A -= insQual; sumDeletionQual_A -= delQual; break; + case C: sumInsertionQual_C -= insQual; sumDeletionQual_C -= delQual; break; + case G: sumInsertionQual_G -= insQual; sumDeletionQual_G -= delQual; break; + case T: sumInsertionQual_T -= insQual; sumDeletionQual_T -= delQual; break; + case D: sumInsertionQual_D -= insQual; sumDeletionQual_D -= delQual; break; + case I: sumInsertionQual_I -= insQual; sumDeletionQual_I -= delQual; break; + case N: sumInsertionQual_N -= insQual; sumDeletionQual_N -= delQual; break; + } } public byte averageInsertionQualsOfBase(final BaseIndex base) { - return getGenericAverageQualOfBase(base, sumInsertionQuals); + return (byte) (getInsertionQual(base) / countOfBase(base)); } public byte averageDeletionQualsOfBase(final BaseIndex base) { - return getGenericAverageQualOfBase(base, sumDeletionQuals); + return (byte) (getDeletionQual(base) / countOfBase(base)); } - private byte getGenericAverageQualOfBase(final BaseIndex base, final long[] sumQuals) { - return (byte) (sumQuals[base.index] / countOfBase(base)); + private long getInsertionQual(final BaseIndex base) { + switch (base) { + case A: return sumInsertionQual_A; + case C: return sumInsertionQual_C; + case G: return sumInsertionQual_G; + case T: return sumInsertionQual_T; + case D: return sumInsertionQual_D; + case I: return sumInsertionQual_I; + case N: return sumInsertionQual_N; + default: throw new IllegalArgumentException(base.name()); + } + } + + private long getDeletionQual(final BaseIndex base) { + switch (base) { + case A: return sumDeletionQual_A; + case C: return sumDeletionQual_C; + case G: return sumDeletionQual_G; + case T: return sumDeletionQual_T; + case D: return sumDeletionQual_D; + case I: return sumDeletionQual_I; + case N: return sumDeletionQual_N; + default: throw new IllegalArgumentException(base.name()); + } } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java index 5b34a2303..17ce3c90d 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCounts.java @@ -62,73 +62,107 @@ import com.google.java.contract.Requires; public final static BaseIndex MAX_BASE_INDEX_WITH_NO_COUNTS = BaseIndex.N; public final static byte MAX_BASE_WITH_NO_COUNTS = MAX_BASE_INDEX_WITH_NO_COUNTS.getByte(); - private final int[] counts; // keeps track of the base counts - private final long[] sumQuals; // keeps track of the quals of each base + + private int count_A = 0; // keeps track of the base counts + private int sumQual_A = 0; // keeps track of the quals of each base + private int count_C = 0; + private int sumQual_C = 0; + private int count_G = 0; + private int sumQual_G = 0; + private int count_T = 0; + private int sumQual_T = 0; + private int count_D = 0; + private int sumQual_D = 0; + private int count_I = 0; + private int sumQual_I = 0; + private int count_N = 0; + private int sumQual_N = 0; private int totalCount = 0; // keeps track of total count since this is requested so often - public BaseCounts() { - counts = new int[BaseIndex.values().length]; - sumQuals = new long[BaseIndex.values().length]; - for (final BaseIndex i : BaseIndex.values()) { - counts[i.index] = 0; - sumQuals[i.index] = 0L; - } - } public static BaseCounts createWithCounts(int[] countsACGT) { BaseCounts baseCounts = new BaseCounts(); - baseCounts.counts[BaseIndex.A.index] = countsACGT[0]; - baseCounts.counts[BaseIndex.C.index] = countsACGT[1]; - baseCounts.counts[BaseIndex.G.index] = countsACGT[2]; - baseCounts.counts[BaseIndex.T.index] = countsACGT[3]; + baseCounts.count_A = countsACGT[0]; + baseCounts.count_C = countsACGT[1]; + baseCounts.count_G = countsACGT[2]; + baseCounts.count_T = countsACGT[3]; baseCounts.totalCount = countsACGT[0] + countsACGT[1] + countsACGT[2] + countsACGT[3]; return baseCounts; } @Requires("other != null") public void add(final BaseCounts other) { - for (final BaseIndex i : BaseIndex.values()) { - final int otherCount = other.counts[i.index]; - counts[i.index] += otherCount; - totalCount += otherCount; - } + this.count_A += other.count_A; + this.count_C += other.count_C; + this.count_G += other.count_G; + this.count_T += other.count_T; + this.count_D += other.count_D; + this.count_I += other.count_I; + this.count_N += other.count_N; + this.totalCount += other.totalCount; } @Requires("other != null") public void sub(final BaseCounts other) { - for (final BaseIndex i : BaseIndex.values()) { - final int otherCount = other.counts[i.index]; - counts[i.index] -= otherCount; - totalCount -= otherCount; - } + this.count_A -= other.count_A; + this.count_C -= other.count_C; + this.count_G -= other.count_G; + this.count_T -= other.count_T; + this.count_D -= other.count_D; + this.count_I -= other.count_I; + this.count_N -= other.count_N; + this.totalCount -= other.totalCount; } @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) + 1") public void incr(final byte base) { - final BaseIndex i = BaseIndex.byteToBase(base); - counts[i.index]++; - totalCount++; + add(BaseIndex.byteToBase(base), 1); } @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) + 1") public void incr(final BaseIndex base, final byte qual) { - counts[base.index]++; - totalCount++; - sumQuals[base.index] += qual; + switch (base) { + case A: ++count_A; sumQual_A += qual; break; + case C: ++count_C; sumQual_C += qual; break; + case G: ++count_G; sumQual_G += qual; break; + case T: ++count_T; sumQual_T += qual; break; + case D: ++count_D; sumQual_D += qual; break; + case I: ++count_I; sumQual_I += qual; break; + case N: ++count_N; sumQual_N += qual; break; + } + ++totalCount; } @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) - 1") public void decr(final byte base) { - final BaseIndex i = BaseIndex.byteToBase(base); - counts[i.index]--; - totalCount--; + add(BaseIndex.byteToBase(base), -1); + } + + private void add(final BaseIndex base, int amount) { + switch(base) { + case A: count_A += amount; break; + case C: count_C += amount; break; + case G: count_G += amount; break; + case T: count_T += amount; break; + case D: count_D += amount; break; + case I: count_I += amount; break; + case N: count_N += amount; break; + } + totalCount += amount; } @Ensures("totalCount() == old(totalCount()) || totalCount() == old(totalCount()) - 1") public void decr(final BaseIndex base, final byte qual) { - counts[base.index]--; - totalCount--; - sumQuals[base.index] -= qual; + switch (base) { + case A: --count_A; sumQual_A -= qual; break; + case C: --count_C; sumQual_C -= qual; break; + case G: --count_G; sumQual_G -= qual; break; + case T: --count_T; sumQual_T -= qual; break; + case D: --count_D; sumQual_D -= qual; break; + case I: --count_I; sumQual_I -= qual; break; + case N: --count_N; sumQual_N -= qual; break; + } + --totalCount; } @Ensures("result >= 0") @@ -138,12 +172,21 @@ import com.google.java.contract.Requires; @Ensures("result >= 0") public long getSumQuals(final BaseIndex base) { - return sumQuals[base.index]; + switch (base) { + case A: return sumQual_A; + case C: return sumQual_C; + case G: return sumQual_G; + case T: return sumQual_T; + case D: return sumQual_D; + case I: return sumQual_I; + case N: return sumQual_N; + default: throw new IllegalArgumentException(base.name()); + } } @Ensures("result >= 0") public byte averageQuals(final byte base) { - return (byte) (getSumQuals(base) / countOfBase(base)); + return averageQuals(BaseIndex.byteToBase(base)); } @Ensures("result >= 0") @@ -158,12 +201,21 @@ import com.google.java.contract.Requires; @Ensures("result >= 0") public int countOfBase(final BaseIndex base) { - return counts[base.index]; + switch (base) { + case A: return count_A; + case C: return count_C; + case G: return count_G; + case T: return count_T; + case D: return count_D; + case I: return count_I; + case N: return count_N; + default: throw new IllegalArgumentException(base.name()); + } } @Ensures("result >= 0") public long sumQualsOfBase(final BaseIndex base) { - return sumQuals[base.index]; + return getSumQuals(base); } @Ensures("result >= 0") @@ -196,14 +248,14 @@ import com.google.java.contract.Requires; */ @Ensures({"result >=0.0", "result<= 1.0"}) public double baseCountProportion(final BaseIndex baseIndex) { - return (totalCount == 0) ? 0.0 : (double)counts[baseIndex.index] / (double)totalCount; + return (totalCount == 0) ? 0.0 : (double)countOfBase(baseIndex) / (double)totalCount; } @Ensures("result != null") public String toString() { StringBuilder b = new StringBuilder(); for (final BaseIndex i : BaseIndex.values()) { - b.append(i.toString()).append("=").append(counts[i.index]).append(","); + b.append(i.toString()).append("=").append(countOfBase(i)).append(","); } return b.toString(); } @@ -216,7 +268,7 @@ import com.google.java.contract.Requires; public BaseIndex baseIndexWithMostCounts() { BaseIndex maxI = MAX_BASE_INDEX_WITH_NO_COUNTS; for (final BaseIndex i : BaseIndex.values()) { - if (counts[i.index] > counts[maxI.index]) + if (countOfBase(i) > countOfBase(maxI)) maxI = i; } return maxI; @@ -226,18 +278,12 @@ import com.google.java.contract.Requires; public BaseIndex baseIndexWithMostCountsWithoutIndels() { BaseIndex maxI = MAX_BASE_INDEX_WITH_NO_COUNTS; for (final BaseIndex i : BaseIndex.values()) { - if (i.isNucleotide() && counts[i.index] > counts[maxI.index]) + if (i.isNucleotide() && countOfBase(i) > countOfBase(maxI)) maxI = i; } return maxI; } - private boolean hasHigherCount(final BaseIndex targetIndex, final BaseIndex testIndex) { - final int targetCount = counts[targetIndex.index]; - final int testCount = counts[testIndex.index]; - return ( targetCount > testCount || (targetCount == testCount && sumQuals[targetIndex.index] > sumQuals[testIndex.index]) ); - } - public byte baseWithMostProbability() { return baseIndexWithMostProbability().getByte(); } @@ -246,25 +292,25 @@ import com.google.java.contract.Requires; public BaseIndex baseIndexWithMostProbability() { BaseIndex maxI = MAX_BASE_INDEX_WITH_NO_COUNTS; for (final BaseIndex i : BaseIndex.values()) { - if (sumQuals[i.index] > sumQuals[maxI.index]) + if (getSumQuals(i) > getSumQuals(maxI)) maxI = i; } - return (sumQuals[maxI.index] > 0L ? maxI : baseIndexWithMostCounts()); + return (getSumQuals(maxI) > 0L ? maxI : baseIndexWithMostCounts()); } @Ensures("result != null") public BaseIndex baseIndexWithMostProbabilityWithoutIndels() { BaseIndex maxI = MAX_BASE_INDEX_WITH_NO_COUNTS; for (final BaseIndex i : BaseIndex.values()) { - if (i.isNucleotide() && sumQuals[i.index] > sumQuals[maxI.index]) + if (i.isNucleotide() && getSumQuals(i) > getSumQuals(maxI)) maxI = i; } - return (sumQuals[maxI.index] > 0L ? maxI : baseIndexWithMostCountsWithoutIndels()); + return (getSumQuals(maxI) > 0L ? maxI : baseIndexWithMostCountsWithoutIndels()); } @Ensures("result >=0") public int totalCountWithoutIndels() { - return totalCount - counts[BaseIndex.D.index] - counts[BaseIndex.I.index]; + return totalCount - countOfBase(BaseIndex.D) - countOfBase(BaseIndex.I); } /** @@ -277,10 +323,6 @@ import com.google.java.contract.Requires; @Ensures({"result >=0.0", "result<= 1.0"}) public double baseCountProportionWithoutIndels(final BaseIndex base) { final int total = totalCountWithoutIndels(); - return (total == 0) ? 0.0 : (double)counts[base.index] / (double)total; - } - - public int[] countsArray() { - return counts.clone(); + return (total == 0) ? 0.0 : (double)countOfBase(base) / (double)total; } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java index cb3eed1a2..e41878a0b 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseIndex.java @@ -69,6 +69,12 @@ public enum BaseIndex { public byte getByte() { return b; } + /** + * Ordinal is stored in SyntheticRead rather than enum to save object reference, and store as byte for compactness. + * It is stored as byte, and this method merely eliminates a cast. + */ + public byte getOrdinalByte() { return (byte)ordinal(); } + private BaseIndex(char base, int index) { this.b = (byte)base; this.index = index; diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java index 3c475576a..a8a765ddc 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompareBAM.java @@ -59,6 +59,7 @@ import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.gatk.walkers.ReadFilters; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.util.HashMap; import java.util.Map; @@ -87,7 +88,7 @@ import java.util.Map; * @since 10/30/11 */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @ReadFilters({UnmappedReadFilter.class,NotPrimaryAlignmentFilter.class,DuplicateReadFilter.class,FailsVendorQualityCheckFilter.class}) public class CompareBAM extends LocusWalker, CompareBAM.TestResults> { @Argument(required = true, shortName = "rr", fullName = "reduced_readgroup", doc = "The read group ID corresponding to the compressed BAM being tested") public String reducedReadGroupID; diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompressionStash.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompressionStash.java index bd7bdfe89..22ea78521 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompressionStash.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/CompressionStash.java @@ -46,10 +46,12 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; +import it.unimi.dsi.fastutil.objects.ObjectAVLTreeSet; +import it.unimi.dsi.fastutil.objects.ObjectSortedSet; import org.broadinstitute.sting.utils.*; import java.util.Collection; -import java.util.TreeSet; + /** * A stash of regions that must be kept uncompressed in all samples @@ -61,7 +63,7 @@ import java.util.TreeSet; * Date: 10/15/12 * Time: 4:08 PM */ -public class CompressionStash extends TreeSet { +public class CompressionStash extends ObjectAVLTreeSet { public CompressionStash() { super(); } @@ -75,7 +77,7 @@ public class CompressionStash extends TreeSet { */ @Override public boolean add(final FinishedGenomeLoc insertLoc) { - TreeSet removedLocs = new TreeSet(); + ObjectSortedSet removedLocs = new ObjectAVLTreeSet(); for (FinishedGenomeLoc existingLoc : this) { if (existingLoc.isPast(insertLoc)) { break; // if we're past the loc we're done looking for overlaps. diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java index 13d3d1b4c..1cd9c1bc0 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElement.java @@ -46,11 +46,10 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; +import it.unimi.dsi.fastutil.ints.IntArrayList; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import java.util.Arrays; -import java.util.LinkedList; /** * The element that describes the header of the sliding window. @@ -65,7 +64,7 @@ public class HeaderElement { private int insertionsToTheRight; // How many reads in this site had insertions to the immediate right private int nSoftClippedBases; // How many bases in this site came from soft clipped bases private int location; // Genome location of this site (the sliding window knows which contig we're at - private LinkedList mappingQuality; // keeps the mapping quality of each read that contributed to this element (site) + private IntArrayList mappingQuality; // keeps the mapping quality of each read that contributed to this element (site) public int getLocation() { return location; @@ -86,7 +85,7 @@ public class HeaderElement { * @param location the reference location for the new element */ public HeaderElement(final int location) { - this(new BaseAndQualsCounts(), new BaseAndQualsCounts(), 0, 0, location, new LinkedList()); + this(new BaseAndQualsCounts(), new BaseAndQualsCounts(), 0, 0, location, new IntArrayList()); } /** @@ -96,7 +95,7 @@ public class HeaderElement { * @param location the reference location for the new element */ public HeaderElement(final int location, final int insertionsToTheRight) { - this(new BaseAndQualsCounts(), new BaseAndQualsCounts(), insertionsToTheRight, 0, location, new LinkedList()); + this(new BaseAndQualsCounts(), new BaseAndQualsCounts(), insertionsToTheRight, 0, location, new IntArrayList()); } /** @@ -110,7 +109,7 @@ public class HeaderElement { * @param mappingQuality the list of mapping quality values of all reads that contributed to this * HeaderElement */ - public HeaderElement(BaseAndQualsCounts consensusBaseCounts, BaseAndQualsCounts filteredBaseCounts, int insertionsToTheRight, int nSoftClippedBases, int location, LinkedList mappingQuality) { + public HeaderElement(BaseAndQualsCounts consensusBaseCounts, BaseAndQualsCounts filteredBaseCounts, int insertionsToTheRight, int nSoftClippedBases, int location, IntArrayList mappingQuality) { this.consensusBaseCounts = consensusBaseCounts; this.filteredBaseCounts = filteredBaseCounts; this.insertionsToTheRight = insertionsToTheRight; @@ -268,24 +267,26 @@ public class HeaderElement { * Calculates the number of haplotypes necessary to represent this site. * * @param minVariantProportion the minimum proportion to call a site variant. - * @return the number of haplotypes necessary to represent this site. + * @return the number of alleles necessary to represent this site. */ - public int getNumberOfHaplotypes(double minVariantProportion) { - int nHaplotypes = 0; - int totalCount = consensusBaseCounts.totalCount(); - int runningCount = 0; - - if (totalCount == 0) + public int getNumberOfAlleles(final double minVariantProportion) { + final int totalBaseCount = consensusBaseCounts.totalCount(); + if (totalBaseCount == 0) return 0; - int[] countsArray = consensusBaseCounts.countsArray(); - Arrays.sort(countsArray); - for (int i = countsArray.length-1; i>=0; i--) { - nHaplotypes++; - runningCount += countsArray[i]; - if (runningCount/totalCount > minVariantProportion) - break; + final int minBaseCountForRelevantAlleles = (int)(minVariantProportion * totalBaseCount); + + int nAlleles = 0; + for ( BaseIndex base : BaseIndex.values() ) { + final int baseCount = consensusBaseCounts.countOfBase(base); + + // don't consider this allele if the count is 0 + if ( baseCount == 0 ) + continue; + + if ( baseCount >= minBaseCountForRelevantAlleles ) + nAlleles++; } - return nHaplotypes; + return nAlleles; } } \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java index 6818669df..2f377bee8 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/MultiSampleCompressor.java @@ -46,6 +46,7 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; +import it.unimi.dsi.fastutil.objects.*; import net.sf.samtools.SAMFileHeader; import org.apache.log4j.Logger; import org.broadinstitute.sting.utils.SampleUtils; @@ -54,10 +55,6 @@ import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.sam.AlignmentStartWithNoTiesComparator; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import java.util.HashMap; -import java.util.Map; -import java.util.Set; -import java.util.TreeSet; /* * Copyright (c) 2009 The Broad Institute @@ -91,7 +88,7 @@ import java.util.TreeSet; public class MultiSampleCompressor { protected static final Logger logger = Logger.getLogger(MultiSampleCompressor.class); - protected Map compressorsPerSample = new HashMap(); + protected Object2ObjectMap compressorsPerSample = new Object2ObjectOpenHashMap(); public MultiSampleCompressor(SAMFileHeader header, final int contextSize, @@ -101,22 +98,21 @@ public class MultiSampleCompressor { final double minIndelProportionToTriggerVariant, final int minBaseQual, final ReduceReads.DownsampleStrategy downsampleStrategy, - final int nContigs, final boolean allowPolyploidReduction) { for ( String name : SampleUtils.getSAMFileSamples(header) ) { compressorsPerSample.put(name, new SingleSampleCompressor(contextSize, downsampleCoverage, - minMappingQuality, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, downsampleStrategy, nContigs, allowPolyploidReduction)); + minMappingQuality, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, downsampleStrategy, allowPolyploidReduction)); } } - public Set addAlignment(GATKSAMRecord read) { + public ObjectSet addAlignment(GATKSAMRecord read) { String sampleName = read.getReadGroup().getSample(); SingleSampleCompressor compressor = compressorsPerSample.get(sampleName); if ( compressor == null ) throw new ReviewedStingException("No compressor for sample " + sampleName); - Pair, CompressionStash> readsAndStash = compressor.addAlignment(read); - Set reads = readsAndStash.getFirst(); + Pair, CompressionStash> readsAndStash = compressor.addAlignment(read); + ObjectSet reads = readsAndStash.getFirst(); CompressionStash regions = readsAndStash.getSecond(); reads.addAll(closeVariantRegionsInAllSamples(regions)); @@ -124,17 +120,17 @@ public class MultiSampleCompressor { return reads; } - public Set close() { - Set reads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + public ObjectSet close() { + ObjectSet reads = new ObjectAVLTreeSet(new AlignmentStartWithNoTiesComparator()); for ( SingleSampleCompressor sample : compressorsPerSample.values() ) { - Pair, CompressionStash> readsAndStash = sample.close(); + Pair, CompressionStash> readsAndStash = sample.close(); reads = readsAndStash.getFirst(); } return reads; } - private Set closeVariantRegionsInAllSamples(CompressionStash regions) { - Set reads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + private ObjectSet closeVariantRegionsInAllSamples(CompressionStash regions) { + ObjectSet reads = new ObjectAVLTreeSet(new AlignmentStartWithNoTiesComparator()); if (!regions.isEmpty()) { for (SingleSampleCompressor sample : compressorsPerSample.values()) { reads.addAll(sample.closeVariantRegions(regions)); diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java index 7e82629b8..e89158412 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReads.java @@ -46,6 +46,10 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; +import it.unimi.dsi.fastutil.objects.Object2LongOpenHashMap; +import it.unimi.dsi.fastutil.objects.ObjectAVLTreeSet; +import it.unimi.dsi.fastutil.objects.ObjectArrayList; +import it.unimi.dsi.fastutil.objects.ObjectSortedSet; import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMFileWriter; import net.sf.samtools.SAMProgramRecord; @@ -56,23 +60,21 @@ import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.downsampling.DownsampleType; import org.broadinstitute.sting.gatk.filters.*; import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.PartitionBy; -import org.broadinstitute.sting.gatk.walkers.PartitionType; -import org.broadinstitute.sting.gatk.walkers.ReadFilters; -import org.broadinstitute.sting.gatk.walkers.ReadWalker; +import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.clipping.ReadClipper; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.BySampleSAMFileWriter; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; -import java.util.*; /** * Reduces the BAM file using read based compression that keeps only essential information for variant calling @@ -104,10 +106,11 @@ import java.util.*; * */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) @PartitionBy(PartitionType.CONTIG) @ReadFilters({UnmappedReadFilter.class, NotPrimaryAlignmentFilter.class, DuplicateReadFilter.class, FailsVendorQualityCheckFilter.class, BadCigarFilter.class}) -public class ReduceReads extends ReadWalker, ReduceReadsStash> { +@Downsample(by=DownsampleType.BY_SAMPLE, toCoverage=40) +public class ReduceReads extends ReadWalker, ReduceReadsStash> { @Output private StingSAMFileWriter out = null; @@ -213,14 +216,6 @@ public class ReduceReads extends ReadWalker, ReduceRea @Argument(fullName = "downsample_coverage", shortName = "ds", doc = "", required = false) private int downsampleCoverage = 250; - /** - * Number of chromossomes in the sample (this is used for the polyploid consensus compression). Only - * tested for humans (or organisms with n=2). Use at your own risk! - */ - @Hidden - @Argument(fullName = "contigs", shortName = "ctg", doc = "", required = false) - private int nContigs = 2; - @Hidden @Argument(fullName = "nwayout", shortName = "nw", doc = "", required = false) private boolean nwayout = false; @@ -248,14 +243,13 @@ public class ReduceReads extends ReadWalker, ReduceRea int nCompressedReads = 0; - HashMap readNameHash; // This hash will keep the name of the original read the new compressed name (a number). + Object2LongOpenHashMap readNameHash; // This hash will keep the name of the original read the new compressed name (a number). Long nextReadNumber = 1L; // The next number to use for the compressed read name. - CompressionStash compressionStash = new CompressionStash(); + ObjectSortedSet intervalList; - SortedSet intervalList; - - private static final String PROGRAM_RECORD_NAME = "GATK ReduceReads"; // The name that will go in the @PG tag + // IMPORTANT: DO NOT CHANGE THE VALUE OF THIS CONSTANT VARIABLE; IT IS NOW PERMANENTLY THE @PG NAME THAT EXTERNAL TOOLS LOOK FOR IN THE BAM HEADER + public static final String PROGRAM_RECORD_NAME = "GATK ReduceReads"; // The name that will go in the @PG tag private static final String PROGRAM_FILENAME_EXTENSION = ".reduced.bam"; /** @@ -266,8 +260,8 @@ public class ReduceReads extends ReadWalker, ReduceRea public void initialize() { super.initialize(); GenomeAnalysisEngine toolkit = getToolkit(); - readNameHash = new HashMap(); // prepare the read name hash to keep track of what reads have had their read names compressed - intervalList = new TreeSet(); // get the interval list from the engine. If no interval list was provided, the walker will work in WGS mode + readNameHash = new Object2LongOpenHashMap(100000); // prepare the read name hash to keep track of what reads have had their read names compressed + intervalList = new ObjectAVLTreeSet(); // get the interval list from the engine. If no interval list was provided, the walker will work in WGS mode if (toolkit.getIntervals() != null) intervalList.addAll(toolkit.getIntervals()); @@ -304,8 +298,8 @@ public class ReduceReads extends ReadWalker, ReduceRea * @return a linked list with all the reads produced by the clipping operations */ @Override - public LinkedList map(ReferenceContext ref, GATKSAMRecord read, RefMetaDataTracker metaDataTracker) { - LinkedList mappedReads; + public ObjectArrayList map(ReferenceContext ref, GATKSAMRecord read, RefMetaDataTracker metaDataTracker) { + ObjectArrayList mappedReads; if (!debugRead.isEmpty() && read.getReadName().contains(debugRead)) System.out.println("Found debug read!"); @@ -334,18 +328,18 @@ public class ReduceReads extends ReadWalker, ReduceRea if (HARD_CLIP_TO_INTERVAL) mappedReads = hardClipReadToInterval(read); // Hard clip the remainder of the read to the desired interval else { - mappedReads = new LinkedList(); + mappedReads = new ObjectArrayList(); mappedReads.add(read); } } else { - mappedReads = new LinkedList(); + mappedReads = new ObjectArrayList(); if (!read.isEmpty()) mappedReads.add(read); } if (!mappedReads.isEmpty() && !DONT_USE_SOFTCLIPPED_BASES) { - LinkedList tempList = new LinkedList(); + ObjectArrayList tempList = new ObjectArrayList(); for (GATKSAMRecord mRead : mappedReads) { GATKSAMRecord clippedRead = ReadClipper.hardClipLowQualitySoftClips(mRead, minBaseQual); if (!clippedRead.isEmpty()) @@ -372,7 +366,7 @@ public class ReduceReads extends ReadWalker, ReduceRea */ @Override public ReduceReadsStash reduceInit() { - return new ReduceReadsStash(new MultiSampleCompressor(getToolkit().getSAMFileHeader(), contextSize, downsampleCoverage, minMappingQuality, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, downsampleStrategy, nContigs, USE_POLYPLOID_REDUCTION)); + return new ReduceReadsStash(new MultiSampleCompressor(getToolkit().getSAMFileHeader(), contextSize, downsampleCoverage, minMappingQuality, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, downsampleStrategy, USE_POLYPLOID_REDUCTION)); } /** @@ -384,7 +378,7 @@ public class ReduceReads extends ReadWalker, ReduceRea * @param stash the stash that keeps the reads in order for processing * @return the stash with all reads that have not been processed yet */ - public ReduceReadsStash reduce(LinkedList mappedReads, ReduceReadsStash stash) { + public ReduceReadsStash reduce(ObjectArrayList mappedReads, ReduceReadsStash stash) { if (debugLevel == 1) stash.print(); @@ -396,7 +390,7 @@ public class ReduceReads extends ReadWalker, ReduceRea throw new ReviewedStingException("Empty read sent to reduce, this should never happen! " + read.getReadName() + " -- " + read.getCigar() + " -- " + read.getReferenceName() + ":" + read.getAlignmentStart() + "-" + read.getAlignmentEnd()); if (originalRead) { - List readsReady = new LinkedList(); + ObjectArrayList readsReady = new ObjectArrayList(); readsReady.addAll(stash.getAllReadsBefore(read)); readsReady.add(read); @@ -442,8 +436,8 @@ public class ReduceReads extends ReadWalker, ReduceRea * @param read the read to be hard clipped to the interval. * @return a shallow copy of the read hard clipped to the interval */ - private LinkedList hardClipReadToInterval(GATKSAMRecord read) { - LinkedList clippedReads = new LinkedList(); + private ObjectArrayList hardClipReadToInterval(GATKSAMRecord read) { + ObjectArrayList clippedReads = new ObjectArrayList(); GenomeLoc intervalOverlapped = null; // marks the interval to which the original read overlapped (so we can cut all previous intervals from the list) @@ -597,7 +591,7 @@ public class ReduceReads extends ReadWalker, ReduceRea System.out.println("BAM: " + read.getCigar() + " " + read.getAlignmentStart() + " " + read.getAlignmentEnd()); if (!DONT_COMPRESS_READ_NAMES) - compressReadName(read); + nextReadNumber = compressReadName(readNameHash, read, nextReadNumber); writerToUse.addAlignment(read); } @@ -632,20 +626,28 @@ public class ReduceReads extends ReadWalker, ReduceRea * Compresses the read name using the readNameHash if we have already compressed * this read name before. * - * @param read any read + * @param hash the hash table containing the read name to compressed read name map + * @param read any read + * @param nextReadNumber the number to use in the compressed read name in case this is a new read name + * @return the next number to use in the compressed read name */ - private void compressReadName(GATKSAMRecord read) { - String name = read.getReadName(); - String compressedName = read.isReducedRead() ? "C" : ""; - if (readNameHash.containsKey(name)) - compressedName += readNameHash.get(name).toString(); - else { - readNameHash.put(name, nextReadNumber); - compressedName += nextReadNumber.toString(); - nextReadNumber++; + protected static long compressReadName(final Object2LongOpenHashMap hash, final GATKSAMRecord read, final long nextReadNumber) { + final String name = read.getReadName(); + final StringBuilder compressedName = new StringBuilder(); + long result = nextReadNumber; + if (read.isReducedRead()) { + compressedName.append("C"); } - - read.setReadName(compressedName); + final Long readNumber = hash.get(name); + if (readNumber != null) { + compressedName.append(readNumber); + } else { + hash.put(name, nextReadNumber); + compressedName.append(nextReadNumber); + result++; + } + read.setReadName(compressedName.toString()); + return result; } /** @@ -657,8 +659,8 @@ public class ReduceReads extends ReadWalker, ReduceRea * @param read the read * @return Returns true if the read is the original read that went through map(). */ - private boolean isOriginalRead(LinkedList list, GATKSAMRecord read) { - return isWholeGenome() || list.getFirst().equals(read); + private boolean isOriginalRead(ObjectArrayList list, GATKSAMRecord read) { + return isWholeGenome() || list.get(0).equals(read); } /** diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java index 036d2782a..42db83c04 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SingleSampleCompressor.java @@ -46,14 +46,11 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; +import it.unimi.dsi.fastutil.objects.*; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.sam.AlignmentStartWithNoTiesComparator; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import java.util.Collections; -import java.util.Set; -import java.util.TreeSet; - /** * * @author carneiro, depristo @@ -67,13 +64,12 @@ public class SingleSampleCompressor { final private double minIndelProportionToTriggerVariant; final private int minBaseQual; final private ReduceReads.DownsampleStrategy downsampleStrategy; - final private int nContigs; final private boolean allowPolyploidReduction; private SlidingWindow slidingWindow; private int slidingWindowCounter; - public static Pair, CompressionStash> emptyPair = new Pair,CompressionStash>(new TreeSet(), new CompressionStash()); + public static Pair, CompressionStash> emptyPair = new Pair,CompressionStash>(new ObjectAVLTreeSet(), new CompressionStash()); public SingleSampleCompressor(final int contextSize, final int downsampleCoverage, @@ -82,7 +78,6 @@ public class SingleSampleCompressor { final double minIndelProportionToTriggerVariant, final int minBaseQual, final ReduceReads.DownsampleStrategy downsampleStrategy, - final int nContigs, final boolean allowPolyploidReduction) { this.contextSize = contextSize; this.downsampleCoverage = downsampleCoverage; @@ -92,12 +87,11 @@ public class SingleSampleCompressor { this.minIndelProportionToTriggerVariant = minIndelProportionToTriggerVariant; this.minBaseQual = minBaseQual; this.downsampleStrategy = downsampleStrategy; - this.nContigs = nContigs; this.allowPolyploidReduction = allowPolyploidReduction; } - public Pair, CompressionStash> addAlignment( GATKSAMRecord read ) { - Set reads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + public Pair, CompressionStash> addAlignment( GATKSAMRecord read ) { + ObjectSet reads = new ObjectAVLTreeSet(new AlignmentStartWithNoTiesComparator()); CompressionStash stash = new CompressionStash(); int readOriginalStart = read.getUnclippedStart(); @@ -107,27 +101,27 @@ public class SingleSampleCompressor { (readOriginalStart - contextSize > slidingWindow.getStopLocation()))) { // this read is too far away from the end of the current sliding window // close the current sliding window - Pair, CompressionStash> readsAndStash = slidingWindow.close(); + Pair, CompressionStash> readsAndStash = slidingWindow.close(); reads = readsAndStash.getFirst(); stash = readsAndStash.getSecond(); slidingWindow = null; // so we create a new one on the next if } if ( slidingWindow == null) { // this is the first read - slidingWindow = new SlidingWindow(read.getReferenceName(), read.getReferenceIndex(), contextSize, read.getHeader(), read.getReadGroup(), slidingWindowCounter, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, minMappingQuality, downsampleCoverage, downsampleStrategy, read.hasBaseIndelQualities(), nContigs, allowPolyploidReduction); + slidingWindow = new SlidingWindow(read.getReferenceName(), read.getReferenceIndex(), contextSize, read.getHeader(), read.getReadGroup(), slidingWindowCounter, minAltProportionToTriggerVariant, minIndelProportionToTriggerVariant, minBaseQual, minMappingQuality, downsampleCoverage, downsampleStrategy, read.hasBaseIndelQualities(), allowPolyploidReduction); slidingWindowCounter++; } stash.addAll(slidingWindow.addRead(read)); - return new Pair, CompressionStash>(reads, stash); + return new Pair, CompressionStash>(reads, stash); } - public Pair, CompressionStash> close() { + public Pair, CompressionStash> close() { return (slidingWindow != null) ? slidingWindow.close() : emptyPair; } - public Set closeVariantRegions(CompressionStash regions) { - return slidingWindow == null ? Collections.emptySet() : slidingWindow.closeVariantRegions(regions); + public ObjectSet closeVariantRegions(CompressionStash regions) { + return slidingWindow == null ? ObjectSets.EMPTY_SET : slidingWindow.closeVariantRegions(regions); } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java index 985fbba57..7124b4772 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SlidingWindow.java @@ -48,6 +48,10 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; import com.google.java.contract.Ensures; import com.google.java.contract.Requires; +import it.unimi.dsi.fastutil.bytes.Byte2IntArrayMap; +import it.unimi.dsi.fastutil.bytes.Byte2IntMap; +import it.unimi.dsi.fastutil.bytes.Byte2IntOpenHashMap; +import it.unimi.dsi.fastutil.objects.*; import net.sf.samtools.Cigar; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; @@ -62,7 +66,11 @@ import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; -import java.util.*; +import java.util.Comparator; +import java.util.Iterator; +import java.util.LinkedList; +import java.util.ListIterator; + /** * Created by IntelliJ IDEA. @@ -73,7 +81,7 @@ import java.util.*; public class SlidingWindow { // Sliding Window data - final private TreeSet readsInWindow; + final private ObjectAVLTreeSet readsInWindow; final private LinkedList windowHeader; protected int contextSize; // the largest context size (between mismatches and indels) protected String contig; @@ -102,8 +110,6 @@ public class SlidingWindow { protected ReduceReads.DownsampleStrategy downsampleStrategy; private boolean hasIndelQualities; - private final int nContigs; - private boolean allowPolyploidReductionInGeneral; private static CompressionStash emptyRegions = new CompressionStash(); @@ -143,14 +149,13 @@ public class SlidingWindow { this.contigIndex = contigIndex; contextSize = 10; - nContigs = 1; this.windowHeader = new LinkedList(); windowHeader.addFirst(new HeaderElement(startLocation)); - this.readsInWindow = new TreeSet(); + this.readsInWindow = new ObjectAVLTreeSet(); } - public SlidingWindow(String contig, int contigIndex, int contextSize, SAMFileHeader samHeader, GATKSAMReadGroupRecord readGroupAttribute, int windowNumber, final double minAltProportionToTriggerVariant, final double minIndelProportionToTriggerVariant, int minBaseQual, int minMappingQuality, int downsampleCoverage, final ReduceReads.DownsampleStrategy downsampleStrategy, boolean hasIndelQualities, int nContigs, boolean allowPolyploidReduction) { + public SlidingWindow(String contig, int contigIndex, int contextSize, SAMFileHeader samHeader, GATKSAMReadGroupRecord readGroupAttribute, int windowNumber, final double minAltProportionToTriggerVariant, final double minIndelProportionToTriggerVariant, int minBaseQual, int minMappingQuality, int downsampleCoverage, final ReduceReads.DownsampleStrategy downsampleStrategy, boolean hasIndelQualities, boolean allowPolyploidReduction) { this.contextSize = contextSize; this.downsampleCoverage = downsampleCoverage; @@ -160,7 +165,7 @@ public class SlidingWindow { this.MIN_MAPPING_QUALITY = minMappingQuality; this.windowHeader = new LinkedList(); - this.readsInWindow = new TreeSet(new Comparator() { + this.readsInWindow = new ObjectAVLTreeSet(new Comparator() { @Override public int compare(GATKSAMRecord read1, GATKSAMRecord read2) { final int difference = read1.getSoftEnd() - read2.getSoftEnd(); @@ -184,7 +189,6 @@ public class SlidingWindow { this.downsampleStrategy = downsampleStrategy; this.hasIndelQualities = hasIndelQualities; - this.nContigs = nContigs; this.allowPolyploidReductionInGeneral = allowPolyploidReduction; } @@ -198,8 +202,10 @@ public class SlidingWindow { * sliding process. * * @param read the read - * @return a list of reads that have been finished by sliding the window. + * @return a non-null list of reads (in the CompressionStash) that have been finished by sliding the window. */ + @Requires({"read != null"}) + @Ensures("result != null") public CompressionStash addRead(GATKSAMRecord read) { addToHeader(windowHeader, read); // update the window header counts readsInWindow.add(read); // add read to sliding reads @@ -210,8 +216,8 @@ public class SlidingWindow { * Returns the next complete (or incomplete if closeLastRegion is true) variant region between 'from' (inclusive) and 'to' (exclusive) * but converted to global coordinates. * - * @param from beginning window header index of the search window (inclusive); note that this uses local coordinates - * @param to end window header index of the search window (exclusive); note that this uses local coordinates + * @param from beginning window header index of the search window (inclusive) in local (to the windowHeader) coordinates + * @param to end window header index of the search window (exclusive) in local (to the windowHeader) coordinates * @param variantSite boolean array with true marking variant regions * @param closeLastRegion if the last index is variant (so it's an incomplete region), should we close (and return as an interval) the location or ignore it? * @return null if nothing is variant, start/stop if there is a complete variant region, start/-1 if there is an incomplete variant region. All coordinates returned are global. @@ -238,8 +244,8 @@ public class SlidingWindow { /** * Creates a list with all the complete and incomplete variant regions within 'from' (inclusive) and 'to' (exclusive) * - * @param from beginning window header index of the search window (inclusive); note that this uses local coordinates - * @param to end window header index of the search window (exclusive); note that this uses local coordinates + * @param from beginning window header index of the search window (inclusive) in local (to the windowHeader) coordinates + * @param to end window header index of the search window (exclusive) in local (to the windowHeader) coordinates * @param variantSite boolean array with true marking variant regions * @return a list with start/stops of variant regions following findNextVariantRegion description in global coordinates */ @@ -289,7 +295,7 @@ public class SlidingWindow { } while (!readsInWindow.isEmpty() && readsInWindow.first().getSoftEnd() < windowHeaderStartLocation) { - readsInWindow.pollFirst(); + readsInWindow.remove(readsInWindow.first()); } return regions; @@ -395,12 +401,16 @@ public class SlidingWindow { * * If adding a sequence with gaps, it will finalize multiple consensus reads and keep the last running consensus * - * @param start the first header index to add to consensus - * @param end the first header index NOT TO add to consensus - * @return a list of consensus reads generated by this call. Empty list if no consensus was generated. + * @param header the window header + * @param start the first header index to add to consensus + * @param end the first header index NOT TO add to consensus + * @param isNegativeStrand should the synthetic read be represented as being on the negative strand? + * @return a non-null list of consensus reads generated by this call. Empty list if no consensus was generated. */ - protected List addToSyntheticReads(LinkedList header, int start, int end, boolean isNegativeStrand) { - LinkedList reads = new LinkedList(); + @Requires({"start >= 0 && (end >= start || end == 0)"}) + @Ensures("result != null") + protected ObjectArrayList addToSyntheticReads(LinkedList header, int start, int end, boolean isNegativeStrand) { + ObjectArrayList reads = new ObjectArrayList(); if (start < end) { ListIterator headerElementIterator = header.listIterator(start); @@ -450,11 +460,11 @@ public class SlidingWindow { * Finalizes one or more synthetic reads. * * @param type the synthetic reads you want to close - * @return the GATKSAMRecords generated by finalizing the synthetic reads + * @return a possibly null list of GATKSAMRecords generated by finalizing the synthetic reads */ - private List finalizeAndAdd(ConsensusType type) { + private ObjectArrayList finalizeAndAdd(ConsensusType type) { GATKSAMRecord read = null; - List list = new LinkedList(); + ObjectArrayList list = new ObjectArrayList(); switch (type) { case CONSENSUS: @@ -479,7 +489,7 @@ public class SlidingWindow { * * @param start beginning of the filtered region * @param upTo limit to search for another consensus element - * @return next position with consensus data or empty + * @return next position in local coordinates (relative to the windowHeader) with consensus data; otherwise, the start position */ private int findNextNonConsensusElement(LinkedList header, int start, int upTo) { Iterator headerElementIterator = header.listIterator(start); @@ -501,7 +511,7 @@ public class SlidingWindow { * * @param start beginning of the region * @param upTo limit to search for - * @return next position with no filtered data + * @return next position in local coordinates (relative to the windowHeader) with no filtered data; otherwise, the start position */ private int findNextNonFilteredDataElement(LinkedList header, int start, int upTo) { Iterator headerElementIterator = header.listIterator(start); @@ -523,7 +533,7 @@ public class SlidingWindow { * * @param start beginning of the region * @param upTo limit to search for - * @return next position with non-empty element + * @return next position in local coordinates (relative to the windowHeader) with non-empty element; otherwise, the start position */ private int findNextNonEmptyElement(LinkedList header, int start, int upTo) { ListIterator headerElementIterator = header.listIterator(start); @@ -544,14 +554,18 @@ public class SlidingWindow { /** * Adds bases to the filtered data synthetic read. * - * Different from the addToConsensus method, this method assumes a contiguous sequence of filteredData - * bases. + * Different from the addToConsensus method, this method assumes a contiguous sequence of filteredData bases. * - * @param start the first header index to add to consensus - * @param end the first header index NOT TO add to consensus + * @param header the window header + * @param start the first header index to add to consensus + * @param end the first header index NOT TO add to consensus + * @param isNegativeStrand should the synthetic read be represented as being on the negative strand? + * @return a non-null list of GATKSAMRecords representing finalized filtered consensus data. Empty list if no consensus was generated. */ - private List addToFilteredData(LinkedList header, int start, int end, boolean isNegativeStrand) { - List result = new ArrayList(0); + @Requires({"start >= 0 && (end >= start || end == 0)"}) + @Ensures("result != null") + private ObjectArrayList addToFilteredData(LinkedList header, int start, int end, boolean isNegativeStrand) { + ObjectArrayList result = new ObjectArrayList(); if (filteredDataConsensus == null) filteredDataConsensus = new SyntheticRead(samHeader, readGroupAttribute, contig, contigIndex, filteredDataReadName + filteredDataConsensusCounter++, header.get(start).getLocation(), GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, hasIndelQualities, isNegativeStrand); @@ -585,9 +599,12 @@ public class SlidingWindow { * Different from the addToConsensus method, this method assumes a contiguous sequence of filteredData * bases. * + * @param header the window header * @param start the first header index to add to consensus * @param end the first header index NOT TO add to consensus + * @param isNegativeStrand should the synthetic read be represented as being on the negative strand? */ + @Requires({"start >= 0 && (end >= start || end == 0)"}) private void addToRunningConsensus(LinkedList header, int start, int end, boolean isNegativeStrand) { if (runningConsensus == null) runningConsensus = new SyntheticRead(samHeader, readGroupAttribute, contig, contigIndex, consensusReadName + consensusCounter++, header.get(start).getLocation(), GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, hasIndelQualities, isNegativeStrand); @@ -621,32 +638,42 @@ public class SlidingWindow { syntheticRead.add(base, count, qual, insQual, delQual, rms); } - private List compressVariantRegion(final int start, final int stop, final boolean disallowPolyploidReductionAtThisPosition) { - List allReads = new LinkedList(); + /** + * Method to compress a variant region and return the associated reduced reads + * + * @param start the first window header index in the variant region (inclusive) + * @param stop the last window header index of the variant region (inclusive) + * @param disallowPolyploidReductionAtThisPosition should we disallow polyploid (het) compression here? + * @return a non-null list of all reads contained in the variant region + */ + @Requires({"start >= 0 && (stop >= start || stop == 0)"}) + @Ensures("result != null") + protected ObjectList compressVariantRegion(final int start, final int stop, final boolean disallowPolyploidReductionAtThisPosition) { + ObjectList allReads = new ObjectArrayList(); // Try to compress into a polyploid consensus - int nHaplotypes = 0; + int nVariantPositions = 0; int hetRefPosition = -1; boolean canCompress = true; - boolean foundEvent = false; Object[] header = windowHeader.toArray(); // foundEvent will remain false if we don't allow polyploid reduction if ( allowPolyploidReductionInGeneral && !disallowPolyploidReductionAtThisPosition ) { for (int i = start; i<=stop; i++) { - nHaplotypes = ((HeaderElement) header[i]).getNumberOfHaplotypes(MIN_ALT_BASE_PROPORTION_TO_TRIGGER_VARIANT); - if (nHaplotypes > nContigs) { + + int nAlleles = ((HeaderElement) header[i]).getNumberOfAlleles(MIN_ALT_BASE_PROPORTION_TO_TRIGGER_VARIANT); + + // we will only work on diploid cases because we just don't want to handle/test other scenarios + if ( nAlleles > 2 ) { canCompress = false; break; - } + } else if ( nAlleles == 2 ) { + nVariantPositions++; - // guarantees that there is only 1 site in the variant region that needs more than one haplotype - if (nHaplotypes > 1) { - if (!foundEvent) { - foundEvent = true; + // make sure that there is only 1 site in the variant region that contains more than one allele + if ( nVariantPositions == 1 ) { hetRefPosition = i; - } - else { + } else if ( nVariantPositions > 1 ) { canCompress = false; break; } @@ -654,10 +681,10 @@ public class SlidingWindow { } } - // Try to compress the variant region - // the "foundEvent" protects us from trying to compress variant regions that are created by insertions - if (canCompress && foundEvent) { - allReads = createPolyploidConsensus(start, stop, nHaplotypes, ((HeaderElement) header[hetRefPosition]).getLocation()); + // Try to compress the variant region; note that using the hetRefPosition protects us from trying to compress + // variant regions that are created by insertions (since we can't confirm here that they represent the same allele) + if ( canCompress && hetRefPosition != -1 ) { + allReads = createPolyploidConsensus(start, stop, ((HeaderElement) header[hetRefPosition]).getLocation()); } // Return all reads that overlap the variant region and remove them from the window header entirely @@ -666,7 +693,7 @@ public class SlidingWindow { final int refStart = windowHeader.get(start).getLocation(); final int refStop = windowHeader.get(stop).getLocation(); - LinkedList toRemove = new LinkedList(); + ObjectList toRemove = new ObjectArrayList(); for (GATKSAMRecord read : readsInWindow) { if (read.getSoftStart() <= refStop) { if (read.getAlignmentEnd() >= refStart) { @@ -684,29 +711,31 @@ public class SlidingWindow { /** * Finalizes a variant region, any adjacent synthetic reads. * - * @param start the first window header index in the variant region (inclusive) - * @param stop the last window header index of the variant region (inclusive) - * @return all reads contained in the variant region plus any adjacent synthetic reads + * @param start the first window header index in the variant region (inclusive) + * @param stop the last window header index of the variant region (inclusive) + * @param disallowPolyploidReductionAtThisPosition should we disallow polyploid (het) compression here? + * @return a non-null list of all reads contained in the variant region plus any adjacent synthetic reads */ - @Requires("start <= stop") - protected List closeVariantRegion(final int start, final int stop, final boolean disallowPolyploidReductionAtThisPosition) { - List allReads = compressVariantRegion(start, stop, disallowPolyploidReductionAtThisPosition); + @Requires({"start >= 0 && (stop >= start || stop == 0)"}) + @Ensures("result != null") + protected ObjectList closeVariantRegion(final int start, final int stop, final boolean disallowPolyploidReductionAtThisPosition) { + ObjectList allReads = compressVariantRegion(start, stop, disallowPolyploidReductionAtThisPosition); - List result = (downsampleCoverage > 0) ? downsampleVariantRegion(allReads) : allReads; + ObjectList result = (downsampleCoverage > 0) ? downsampleVariantRegion(allReads) : allReads; result.addAll(addToSyntheticReads(windowHeader, 0, stop, false)); result.addAll(finalizeAndAdd(ConsensusType.BOTH)); return result; // finalized reads will be downsampled if necessary } - public Set closeVariantRegions(CompressionStash regions) { - TreeSet allReads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + public ObjectSet closeVariantRegions(CompressionStash regions) { + ObjectAVLTreeSet allReads = new ObjectAVLTreeSet(new AlignmentStartWithNoTiesComparator()); if (!regions.isEmpty()) { int lastStop = -1; int windowHeaderStart = getStartLocation(windowHeader); for (GenomeLoc region : regions) { - if (((FinishedGenomeLoc)region).isFinished() && region.getContig() == contig && region.getStart() >= windowHeaderStart && region.getStop() < windowHeaderStart + windowHeader.size()) { + if (((FinishedGenomeLoc)region).isFinished() && region.getContig().equals(contig) && region.getStart() >= windowHeaderStart && region.getStop() < windowHeaderStart + windowHeader.size()) { int start = region.getStart() - windowHeaderStart; int stop = region.getStop() - windowHeaderStart; @@ -733,10 +762,12 @@ public class SlidingWindow { * * It will use the downsampling strategy defined by the SlidingWindow * - * @param allReads the reads to select from (all reads that cover the window) - * @return a list of reads selected by the downsampler to cover the window to at least the desired coverage + * @param allReads a non-null list of reads to select from (all reads that cover the window) + * @return a non-null list of reads selected by the downsampler to cover the window to at least the desired coverage */ - protected List downsampleVariantRegion(final List allReads) { + @Requires({"allReads != null"}) + @Ensures("result != null") + protected ObjectList downsampleVariantRegion(final ObjectList allReads) { int nReads = allReads.size(); if (nReads == 0) return allReads; @@ -746,7 +777,7 @@ public class SlidingWindow { ReservoirDownsampler downsampler = new ReservoirDownsampler(downsampleCoverage); downsampler.submit(allReads); - return downsampler.consumeFinalizedItems(); + return new ObjectArrayList(downsampler.consumeFinalizedItems()); } @@ -755,11 +786,12 @@ public class SlidingWindow { * regions that still exist regardless of being able to fulfill the * context size requirement in the end. * - * @return All reads generated + * @return A non-null set/list of all reads generated */ - public Pair, CompressionStash> close() { + @Ensures("result != null") + public Pair, CompressionStash> close() { // mark variant regions - Set finalizedReads = new TreeSet(new AlignmentStartWithNoTiesComparator()); + ObjectSet finalizedReads = new ObjectAVLTreeSet(new AlignmentStartWithNoTiesComparator()); CompressionStash regions = new CompressionStash(); boolean forceCloseUnfinishedRegions = true; @@ -774,13 +806,13 @@ public class SlidingWindow { } } - return new Pair, CompressionStash>(finalizedReads, regions); + return new Pair, CompressionStash>(finalizedReads, regions); } /** * generates the SAM record for the running consensus read and resets it (to null) * - * @return the read contained in the running consensus + * @return the read contained in the running consensus or null */ protected GATKSAMRecord finalizeRunningConsensus() { GATKSAMRecord finalizedRead = null; @@ -798,7 +830,7 @@ public class SlidingWindow { /** * generates the SAM record for the filtered data consensus and resets it (to null) * - * @return the read contained in the running consensus + * @return the read contained in the running consensus or null */ protected GATKSAMRecord finalizeFilteredDataConsensus() { GATKSAMRecord finalizedRead = null; @@ -813,18 +845,26 @@ public class SlidingWindow { return finalizedRead; } - - - private List createPolyploidConsensus(int start, int stop, int nHaplotypes, int hetRefPosition) { + /** + * Finalizes a variant region, any adjacent synthetic reads. + * + * @param start the first window header index in the variant region (inclusive) + * @param stop the last window header index of the variant region (inclusive) + * @param hetRefPosition reference position (in global coordinates) of the het site + * @return a non-null list of all reads contained in the variant region as a polyploid consensus + */ + @Requires({"start >= 0 && (stop >= start || stop == 0)"}) + @Ensures("result != null") + private ObjectList createPolyploidConsensus(final int start, final int stop, final int hetRefPosition) { // we will create two (positive strand, negative strand) headers for each contig - List> headersPosStrand = new ArrayList>(); - List> headersNegStrand = new ArrayList>(); - List hetReads = new LinkedList(); - Map haplotypeHeaderMap = new HashMap(nHaplotypes); + ObjectList> headersPosStrand = new ObjectArrayList>(); + ObjectList> headersNegStrand = new ObjectArrayList>(); + ObjectList hetReads = new ObjectArrayList(); + Byte2IntMap haplotypeHeaderMap = new Byte2IntArrayMap(2); int currentHaplotype = 0; int refStart = windowHeader.get(start).getLocation(); int refStop = windowHeader.get(stop).getLocation(); - List toRemove = new LinkedList(); + ObjectList toRemove = new ObjectArrayList(); for (GATKSAMRecord read : readsInWindow) { int haplotype; @@ -835,6 +875,7 @@ public class SlidingWindow { // check if the read contains the het site if (read.getSoftStart() <= hetRefPosition && read.getSoftEnd() >= hetRefPosition) { int readPos = ReadUtils.getReadCoordinateForReferenceCoordinate(read, hetRefPosition, ReadUtils.ClippingTail.LEFT_TAIL); + // TODO -- THIS IS A HUGE BUG AS IT WILL NOT WORK FOR DELETIONS; see commented out unit test byte base = read.getReadBases()[readPos]; byte qual = read.getBaseQualities(EventType.BASE_SUBSTITUTION)[readPos]; @@ -902,7 +943,7 @@ public class SlidingWindow { * @param read the incoming read to be added to the sliding window * @param removeRead if we are removing the read from the header or adding */ - private void updateHeaderCounts(LinkedList header, GATKSAMRecord read, boolean removeRead) { + private void updateHeaderCounts(final LinkedList header, final GATKSAMRecord read, final boolean removeRead) { byte[] bases = read.getReadBases(); byte[] quals = read.getBaseQualities(); byte[] insQuals = read.getExistingBaseInsertionQualities(); @@ -998,7 +1039,7 @@ public class SlidingWindow { } } - private void removeReadsFromWindow (List readsToRemove) { + private void removeReadsFromWindow (ObjectList readsToRemove) { for (GATKSAMRecord read : readsToRemove) { readsInWindow.remove(read); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java index 00adae81b..72fd52ebe 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticRead.java @@ -47,6 +47,8 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; import com.google.java.contract.Requires; +import it.unimi.dsi.fastutil.bytes.ByteArrayList; +import it.unimi.dsi.fastutil.objects.ObjectArrayList; import net.sf.samtools.Cigar; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; @@ -57,10 +59,8 @@ import org.broadinstitute.sting.utils.recalibration.EventType; import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; -import java.util.ArrayList; import java.util.Iterator; -import java.util.LinkedList; -import java.util.List; + /** * Running Consensus is a read that is compressed as a sliding window travels over the reads @@ -76,11 +76,54 @@ import java.util.List; * @since 8/26/11 */ public class SyntheticRead { - private List bases; - private List counts; - private List quals; - private List insertionQuals; - private List deletionQuals; + // Rather than storing a separate list for each attribute in SingleBaseInfo, store one list to reduce + // memory footprint. + // TODO: better name + private static class SingleBaseInfo { + byte baseIndexOrdinal; // enum BaseIndex.ordinal + byte count; + byte qual; + byte insertionQual; + byte deletionQual; + + SingleBaseInfo(byte baseIndexOrdinal, byte count, byte qual, byte insertionQual, byte deletionQual) { + this.baseIndexOrdinal = baseIndexOrdinal; + this.count = count; + this.qual = qual; + this.insertionQual = insertionQual; + this.deletionQual = deletionQual; + } + } + + // This class is merely sharing of code for convertVariableGivenBases(). + private abstract class SingleBaseInfoIterator implements Iterator { + final Iterator it; + + SingleBaseInfoIterator() { + this.it = basesCountsQuals.iterator(); + } + + public boolean hasNext() { + return it.hasNext(); + } + + public void remove() { + throw new UnsupportedOperationException(); + } + } + + + // Map from ordinal to enum value. + private static final BaseIndex[] BaseIndexByOrdinal = new BaseIndex[BaseIndex.values().length]; + static + { + for (final BaseIndex baseIndex : BaseIndex.values()) { + BaseIndexByOrdinal[baseIndex.ordinal()] = baseIndex; + } + } + + + private final ObjectArrayList basesCountsQuals; private double mappingQuality; // the average of the rms of the mapping qualities of all the reads that contributed to this consensus private String readTag; @@ -108,11 +151,7 @@ public class SyntheticRead { */ public SyntheticRead(SAMFileHeader header, GATKSAMReadGroupRecord readGroupRecord, String contig, int contigIndex, String readName, int refStart, String readTag, boolean hasIndelQualities, boolean isNegativeRead) { final int initialCapacity = 10000; - bases = new ArrayList(initialCapacity); - counts = new ArrayList(initialCapacity); - quals = new ArrayList(initialCapacity); - insertionQuals = new ArrayList(initialCapacity); - deletionQuals = new ArrayList(initialCapacity); + basesCountsQuals = new ObjectArrayList(initialCapacity); mappingQuality = 0.0; this.readTag = readTag; @@ -126,12 +165,11 @@ public class SyntheticRead { this.isNegativeStrand = isNegativeRead; } - public SyntheticRead(List bases, List counts, List quals, List insertionQuals, List deletionQuals, double mappingQuality, String readTag, SAMFileHeader header, GATKSAMReadGroupRecord readGroupRecord, String contig, int contigIndex, String readName, int refStart, boolean hasIndelQualities, boolean isNegativeRead) { - this.bases = bases; - this.counts = counts; - this.quals = quals; - this.insertionQuals = insertionQuals; - this.deletionQuals = deletionQuals; + public SyntheticRead(ObjectArrayList bases, ByteArrayList counts, ByteArrayList quals, ByteArrayList insertionQuals, ByteArrayList deletionQuals, double mappingQuality, String readTag, SAMFileHeader header, GATKSAMReadGroupRecord readGroupRecord, String contig, int contigIndex, String readName, int refStart, boolean hasIndelQualities, boolean isNegativeRead) { + basesCountsQuals = new ObjectArrayList(bases.size()); + for (int i = 0; i < bases.size(); ++i) { + basesCountsQuals.add(new SingleBaseInfo(bases.get(i).getOrdinalByte(), counts.get(i), quals.get(i), insertionQuals.get(i), deletionQuals.get(i))); + } this.mappingQuality = mappingQuality; this.readTag = readTag; this.header = header; @@ -153,16 +191,12 @@ public class SyntheticRead { */ @Requires("count <= Byte.MAX_VALUE") public void add(BaseIndex base, byte count, byte qual, byte insQual, byte delQual, double mappingQuality) { - counts.add(count); - bases.add(base); - quals.add(qual); - insertionQuals.add(insQual); - deletionQuals.add(delQual); + basesCountsQuals.add(new SingleBaseInfo(base.getOrdinalByte(), count, qual, insQual, delQual)); this.mappingQuality += mappingQuality; } public BaseIndex getBase(final int readCoordinate) { - return bases.get(readCoordinate); + return BaseIndexByOrdinal[basesCountsQuals.get(readCoordinate).baseIndexOrdinal]; } public int getRefStart() { @@ -192,7 +226,7 @@ public class SyntheticRead { read.setReadName(readName); read.setBaseQualities(convertBaseQualities(), EventType.BASE_SUBSTITUTION); read.setReadBases(convertReadBases()); - read.setMappingQuality((int) Math.ceil(mappingQuality / bases.size())); + read.setMappingQuality((int) Math.ceil(mappingQuality / basesCountsQuals.size())); read.setReadGroup(readGroupRecord); read.setAttribute(readTag, convertBaseCounts()); @@ -210,30 +244,46 @@ public class SyntheticRead { * @return true if it is, false if it isn't. */ private boolean isAllDeletions() { - for (BaseIndex b : bases) - if (b != BaseIndex.D) + for (SingleBaseInfo b : basesCountsQuals) + if (b.baseIndexOrdinal != BaseIndex.D.getOrdinalByte()) return false; return true; } public int size () { - return bases.size(); + return basesCountsQuals.size(); } private byte [] convertBaseQualities() { - return convertVariableGivenBases(bases, quals); + return convertVariableGivenBases(new SingleBaseInfoIterator() { + public Byte next() { + return it.next().qual; + } + }); } private byte [] convertInsertionQualities() { - return convertVariableGivenBases(bases, insertionQuals); + return convertVariableGivenBases(new SingleBaseInfoIterator() { + public Byte next() { + return it.next().insertionQual; + } + }); } private byte [] convertDeletionQualities() { - return convertVariableGivenBases(bases, deletionQuals); + return convertVariableGivenBases(new SingleBaseInfoIterator() { + public Byte next() { + return it.next().deletionQual; + } + }); } protected byte [] convertBaseCounts() { - byte[] countsArray = convertVariableGivenBases(bases, counts); + byte[] countsArray = convertVariableGivenBases(new SingleBaseInfoIterator() { + public Byte next() { + return it.next().count; + } + }); if (countsArray.length == 0) throw new ReviewedStingException("Reduced read has counts array of length 0"); @@ -247,12 +297,14 @@ public class SyntheticRead { } private byte [] convertReadBases() { - byte [] readArray = new byte[getReadLengthWithNoDeletions(bases)]; + byte [] readArray = new byte[getReadLengthWithNoDeletions()]; int i = 0; - for (BaseIndex baseIndex : bases) + for (final SingleBaseInfo singleBaseInfo : basesCountsQuals) { + final BaseIndex baseIndex = BaseIndexByOrdinal[singleBaseInfo.baseIndexOrdinal]; if (baseIndex != BaseIndex.D) readArray[i++] = baseIndex.getByte(); - + } + return readArray; } @@ -264,10 +316,11 @@ public class SyntheticRead { * @return the cigar string for the synthetic read */ private Cigar buildCigar() { - LinkedList cigarElements = new LinkedList(); + ObjectArrayList cigarElements = new ObjectArrayList(); CigarOperator cigarOperator = null; int length = 0; - for (BaseIndex b : bases) { + for (final SingleBaseInfo singleBaseInfo : basesCountsQuals) { + final BaseIndex b = BaseIndexByOrdinal[singleBaseInfo.baseIndexOrdinal]; CigarOperator op; switch (b) { case D: @@ -303,18 +356,16 @@ public class SyntheticRead { /** * Shared functionality for all conversion utilities * - * @param bases the read bases - * @param variable the list to convert + * @param variableIterator the list to convert * @return a converted variable given the bases and skipping deletions */ - private static byte [] convertVariableGivenBases (List bases, List variable) { - byte [] variableArray = new byte[getReadLengthWithNoDeletions(bases)]; + private byte [] convertVariableGivenBases (Iterator variableIterator) { + byte [] variableArray = new byte[getReadLengthWithNoDeletions()]; int i = 0; - Iterator variableIterator = variable.iterator(); - for (BaseIndex baseIndex : bases) { + for (final SingleBaseInfo singleBaseInfo : basesCountsQuals) { byte count = variableIterator.next(); - if (baseIndex != BaseIndex.D) + if (singleBaseInfo.baseIndexOrdinal != BaseIndex.D.getOrdinalByte()) variableArray[i++] = count; } return variableArray; @@ -324,13 +375,12 @@ public class SyntheticRead { /** * Shared functionality for all conversion utilities * - * @param bases the read bases * @return the length of the read with no deletions */ - private static int getReadLengthWithNoDeletions(List bases) { - int readLength = bases.size(); - for (BaseIndex baseIndex : bases) - if (baseIndex == BaseIndex.D) + private int getReadLengthWithNoDeletions() { + int readLength = basesCountsQuals.size(); + for (final SingleBaseInfo singleBaseInfo : basesCountsQuals) + if (singleBaseInfo.baseIndexOrdinal == BaseIndex.D.getOrdinalByte()) readLength--; return readLength; } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistribution.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistribution.java index 281c1c55d..37e82a90c 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistribution.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistribution.java @@ -46,59 +46,255 @@ package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; +import org.broadinstitute.sting.commandline.Argument; import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.report.GATKReport; -import org.broadinstitute.sting.gatk.walkers.By; -import org.broadinstitute.sting.gatk.walkers.DataSource; import org.broadinstitute.sting.gatk.walkers.LocusWalker; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; import java.io.PrintStream; +import java.util.ArrayList; import java.util.HashMap; +import java.util.LinkedList; import java.util.Map; /** + * Simple walker to plot the coverage distribution per base. + * + *

+ * Features of this walker: + *

  • includes a smart counting of uncovered bases without visiting the uncovered loci.
    • + *
  • includes reads with deletions in the loci (optionally can be turned off)
    • + *

    + * + *

    Input

    + *

    + * The BAM file and an optional interval list (works for WGS as well) + *

    + * + *

    Output

    + *

    + * A GATK Report with the coverage distribution per base + * + *

    + *

    Examples

    + * 
    + * java -Xmx4g -jar GenomeAnalysisTK.jar \
+ *   -R ref.fasta \
+ *   -T BaseCoverageDistribution \
+ *   -I myData.bam \
+ *   -L interesting.intervals \
+ *   -fd \
+ *   -o report.grp
+ *
    * User: carneiro * Date: 1/27/13 * Time: 11:16 AM */ -@By(DataSource.REFERENCE) -public class BaseCoverageDistribution extends LocusWalker> { - @Output(required = true) +public class BaseCoverageDistribution extends LocusWalker, Map>> { + /** + * The output GATK Report table + */ + @Output(required = true, doc = "The output GATK Report table") private PrintStream out; + /** + * Whether or not a deletion should be counted towards the coverage of a site + */ + @Argument(required = false, shortName="del", fullName = "include_deletions", doc ="whether or not to include reads with deletions on the loci in the pileup") + private boolean includeDeletions = true; + + /** + * Whether or not to calculate and output a filtered coverage distribution. Bases will be filtered according to the + * minimum_mapping_quality and minimum_base_quality parameters below. + */ + @Argument(required = false, shortName="fd", fullName = "filtered_distribution", doc ="calculate and report the filtered coverage distribution of bases") + private boolean calculateFilteredDistribution = false; + + /** + * The minimum mapping quality a read must have to be counted towards the filtered coverage of a site + */ + @Argument(required = false, shortName="mmq", fullName = "minimum_mapping_quality", doc ="minimum mapping quality of a read to include it in the filtered coverage distribution") + private byte minMappingQuality = 20; + + /** + * The minimum base quality a base must have to be counted towards the filtered coverage of a site + */ + @Argument(required = false, shortName="mbq", fullName = "minimum_base_quality", doc ="minimum base quality of a base to include it in the filtered coverage distribution") + private byte minBaseQuality = 17; + + private GenomeLoc previousLocus = null; + private long uncoveredBases = 0L; + private final LinkedList intervalList = new LinkedList(); + @Override public boolean includeReadsWithDeletionAtLoci() { - return true; + return includeDeletions; } @Override - public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { - return context.getBasePileup().getReads().size(); // I want the reads instead of the base pileup because I want to count deletions. + public void initialize() { + if (getToolkit().getIntervals() != null) + intervalList.addAll(getToolkit().getIntervals()); // if the user provided intervals, keep track of them for uncovered bases calculation } @Override - public Map reduceInit() { - return new HashMap(10000); + public ArrayList map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { + ArrayList result = new ArrayList(2); + GenomeLoc currentLocus = ref.getLocus(); + tallyUncoveredBases(currentLocus); + previousLocus = currentLocus; + result.add(context.getBasePileup().getReads().size()); // I want the reads instead of the base pileup because I want to count deletions. + if (calculateFilteredDistribution) + result.add(context.getBasePileup().getBaseAndMappingFilteredPileup(minBaseQuality, minMappingQuality).getReads().size()); // filtered pileup + else { + result.add(result.get(0)); // repeat the same value as the unfiltered pileup if filters are not on + } + return result; } @Override - public Map reduce(Integer value, Map sum) { - Long curr = sum.get(value); - if (curr == null) - curr = 0L; - sum.put(value, curr + 1); + public Map> reduceInit() { + return new HashMap>(10000); + } + + @Override + public Map> reduce(ArrayList value, Map> sum) { + final int unfilteredCoverage = value.get(0); + final int filteredCoverage = value.get(1); + incrementSumArray(sum, unfilteredCoverage, 0); + incrementSumArray(sum, filteredCoverage, 1); return sum; } @Override - public void onTraversalDone(Map result) { - GATKReport report = GATKReport.newSimpleReport("BaseCoverageDistribution", "Coverage", "Count"); - for (Map.Entry entry : result.entrySet()) { - report.addRow(entry.getKey(), entry.getValue()); + public void onTraversalDone(Map> result) { + tallyUncoveredBasesTillEndOfTraversal(); + GATKReport report; + + if (calculateFilteredDistribution) { + report = GATKReport.newSimpleReport("BaseCoverageDistribution", "Coverage", "Count", "Filtered"); + } else { + report = GATKReport.newSimpleReport("BaseCoverageDistribution", "Coverage", "Count"); + report.addRow(0, uncoveredBases); // preemptively add the uncovered bases row (since they'll never exist in the Map) + } + + for (Map.Entry> entry : result.entrySet()) { + final ArrayList values = entry.getValue(); + final int coverage = entry.getKey(); + if (calculateFilteredDistribution) { + if (coverage == 0) { // special case for the uncovered bases. The filtered pileups may have an entry, but the unfiltered ones won't. + report.addRow(coverage, uncoveredBases, uncoveredBases + values.get(1)); + } else { + report.addRow(coverage, values.get(0), values.get(1)); + } + } else { + report.addRow(coverage, values.get(0)); + } + } + // In case the filtered distribution never had a pileup filtered down to zero coverage, output the overall uncovered bases for both + if (calculateFilteredDistribution && !result.containsKey(0)) { + report.addRow(0, uncoveredBases, uncoveredBases); } report.print(out); } -} + + /** + * Initializes the ArrayList if needed. Returns the initialized element (or previously initialized) + * this method is used directly by the incrementSumArray. + * + * @param sum the map + * @param coverage the key to the map to extract the array list + * @return if the ArrayList exists, return it. Otherwise, initialize it with 0 counters. + */ + private ArrayList initializeSumArray(final Map> sum, final int coverage) { + ArrayList curr = sum.get(coverage); + if (curr == null) { + curr = new ArrayList(2); + curr.add(0L); // number of bases with this unfiltered coverage + curr.add(0L); // number of bases with this filtered coverage + sum.put(coverage, curr); + } + return curr; + } + + /** + * Increments the counter for the given arrayindex (type of coverage : filtered or unfiltered) initializing if necessary + * + * @param sum the hash + * @param coverage the hash key + * @param arrayIndex which distribution to increment, 0 for unfiltered, 1 for filtered. + */ + private void incrementSumArray(final Map> sum, final int coverage, final int arrayIndex) { + final ArrayList currentTally = initializeSumArray(sum, coverage); + currentTally.set(arrayIndex, currentTally.get(arrayIndex) + 1); + } + + /** + * Counts all the uncovered loci after the end of traversal. + * + * - Modifies the global variable uncoveredBases + * - Uses global variables: intervalList and previousLocus + * + * takes into account that the traversal may have been due over a set of intervals, or over the whole genome. + */ + private void tallyUncoveredBasesTillEndOfTraversal() { + GenomeLocParser parser = getToolkit().getGenomeLocParser(); + GenomeLoc lastLocus; + if (intervalList.isEmpty()) { // whole genome, add up all contigs past previousLocus + final int lastContigIndex = getToolkit().getSAMFileHeader().getSequenceDictionary().size() - 1; + final int lastContigLength = getToolkit().getSAMFileHeader().getSequence(lastContigIndex).getSequenceLength(); + final String lastContigName = getToolkit().getSAMFileHeader().getSequence(lastContigIndex).getSequenceName(); + lastLocus = parser.createGenomeLoc(lastContigName, lastContigIndex, lastContigLength, lastContigLength); + } else { + GenomeLoc lastInterval = intervalList.getLast(); + lastLocus = parser.createGenomeLoc(lastInterval.getContig(), lastInterval.getContigIndex(), lastInterval.getStop(), lastInterval.getStop()); + } + tallyUncoveredBases(lastLocus); + } + + /** + * Counts all the uncovered loci that have been skipped since the last visited locus. This method allows coverage + * tools to run with @By(DataSource.READS) instead of @By(DataSource.REFERENCE), while still accurately calculating + * uncovered bases + * + * //todo -- make this a generic capability of Coverage and DiagnoseTargets + * + * - Modifies the global variable uncoveredBases + * - Uses global variables: intervalList and previousLocus + * + * takes into account that the traversal may have been due over a set of intervals, or over the whole genome. + * + * @param currentLocus the locus we are visiting right now + */ + private void tallyUncoveredBases(GenomeLoc currentLocus) { + long distance = 0; + if (previousLocus == null) { // first base visited + GenomeLocParser parser = getToolkit().getGenomeLocParser(); + if (intervalList.isEmpty()) { // if this is whole genome (no intervals requested), add what we missed. + final GenomeLoc zeroLoc = parser.createGenomeLoc(getToolkit().getSAMFileHeader().getSequence(0).getSequenceName(), 0, 1, 1); + distance += currentLocus.distanceAcrossContigs(zeroLoc, getToolkit().getSAMFileHeader()); + } else { // if we are running on an interval list, add all intervals before the current locus to the uncovered bases counter + while (!intervalList.peek().containsP(currentLocus)) { + GenomeLoc interval = intervalList.removeFirst(); + distance += interval.size(); + } + distance += currentLocus.getStart() - intervalList.peek().getStart(); // now this is the interval that contains the current locus. Discount the bases from the beginning. + } + } else { + final GenomeLoc previousInterval = intervalList.peekFirst(); // peekFirst returns null if interval list is empty (WGS). + distance = currentLocus.distanceAcrossContigs(previousLocus, getToolkit().getSAMFileHeader()) - 1; + if (previousInterval != null && !previousInterval.containsP(currentLocus)) { + intervalList.removeFirst(); // we're done with the previous interval + final GenomeLoc currentInterval = intervalList.peekFirst(); + distance -= currentInterval.distanceAcrossContigs(previousInterval, getToolkit().getSAMFileHeader()) - 1; + } + } + + uncoveredBases += distance; + } +} \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java index 8edd1ecb9..8b9b37c18 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/DiagnoseTargets.java @@ -56,6 +56,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFConstants; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -104,7 +105,7 @@ import java.util.*; * @author Mauricio Carneiro, Roger Zurawicki * @since 5/8/12 */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @By(value = DataSource.READS) @PartitionBy(PartitionType.INTERVAL) public class DiagnoseTargets extends LocusWalker { diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java index ac028d860..b1a26b7a2 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/FindCoveredIntervals.java @@ -59,16 +59,20 @@ import org.broadinstitute.sting.gatk.walkers.PartitionType; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.activeregion.ActivityProfileState; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @PartitionBy(PartitionType.CONTIG) @ActiveRegionTraversalParameters(extension = 0, maxRegion = 50000) public class FindCoveredIntervals extends ActiveRegionWalker { @Output(required = true) private PrintStream out; + @Argument(fullName = "uncovered", shortName = "u", required = false, doc = "output intervals that fail the coverage threshold instead") + private boolean outputUncovered = false; + @Argument(fullName = "coverage_threshold", shortName = "cov", doc = "The minimum allowable coverage to be considered covered", required = false) private int coverageThreshold = 20; @@ -85,10 +89,10 @@ public class FindCoveredIntervals extends ActiveRegionWalker { @Override public GenomeLoc map(final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion, final RefMetaDataTracker tracker) { - if (activeRegion.isActive()) + if ((!outputUncovered && activeRegion.isActive()) || (outputUncovered && !activeRegion.isActive())) return activeRegion.getLocation(); - else - return null; + + return null; } @Override diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java index 2baa89999..93df9f091 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/DiploidSNPGenotypeLikelihoods.java @@ -267,7 +267,7 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { // // ------------------------------------------------------------------------------------- - static DiploidSNPGenotypeLikelihoods[][][][][] CACHE = new DiploidSNPGenotypeLikelihoods[BaseUtils.BASES.length][QualityUtils.MAX_QUAL_SCORE+1][BaseUtils.BASES.length+1][QualityUtils.MAX_QUAL_SCORE+1][MAX_PLOIDY]; + static DiploidSNPGenotypeLikelihoods[][][][][] CACHE = new DiploidSNPGenotypeLikelihoods[BaseUtils.BASES.length][QualityUtils.MAX_SAM_QUAL_SCORE +1][BaseUtils.BASES.length+1][QualityUtils.MAX_SAM_QUAL_SCORE +1][MAX_PLOIDY]; protected boolean inCache(byte observedBase1, byte qualityScore1, byte observedBase2, byte qualityScore2, int ploidy) { return getCache(CACHE, observedBase1, qualityScore1, observedBase2, qualityScore2, ploidy) != null; @@ -427,7 +427,7 @@ public class DiploidSNPGenotypeLikelihoods implements Cloneable { if ( qual > SAMUtils.MAX_PHRED_SCORE ) throw new UserException.MisencodedBAM(p.getRead(), "we encountered an extremely high quality score (" + (int)qual + ")"); if ( capBaseQualsAtMappingQual ) - qual = (byte)Math.min((int)qual, p.getMappingQual()); + qual = (byte) Math.min( 0xff & qual, p.getMappingQual()); if ( (int)qual < minBaseQual ) qual = (byte)0; diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java index 1b004d889..49494ebb0 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java @@ -51,6 +51,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.walkers.indels.PairHMMIndelErrorModel; import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -123,7 +124,7 @@ public class ErrorModel { } } - double p = MathUtils.phredScaleToLog10Probability((byte)(maxQualityScore-minQualityScore)); + double p = QualityUtils.qualToErrorProbLog10((byte)(maxQualityScore-minQualityScore)); if (refSamplePileup == null || refSampleVC == null || !hasCalledAlleles) { for (byte q=minQualityScore; q<=maxQualityScore; q++) { // maximum uncertainty if there's no ref data at site @@ -270,7 +271,7 @@ public class ErrorModel { }) private double log10PoissonProbabilitySiteGivenQual(byte q, int coverage, int mismatches) { // same as log10ProbabilitySiteGivenQual but with Poisson approximation to avoid numerical underflows - double lambda = MathUtils.phredScaleToProbability(q) * (double )coverage; + double lambda = QualityUtils.qualToErrorProb(q) * (double )coverage; // log10(e^-lambda*lambda^k/k!) = -lambda + k*log10(lambda) - log10factorial(k) return Math.log10(lambda)*mismatches - lambda*log10MinusE- MathUtils.log10Factorial(mismatches); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java index 5a1bdf9e5..858a3370b 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java @@ -145,7 +145,7 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood final ReadBackedPileup pileup = context.getBasePileup(); if (pileup != null) { final GenotypeBuilder b = new GenotypeBuilder(sample.getKey()); - final double[] genotypeLikelihoods = pairModel.computeDiploidReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, perReadAlleleLikelihoodMap.get(sample.getKey()), UAC.CONTAMINATION_FRACTION, UAC.contaminationLog); + final double[] genotypeLikelihoods = pairModel.computeDiploidReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, perReadAlleleLikelihoodMap.get(sample.getKey()), UAC.getSampleContamination().get(sample.getKey()), UAC.contaminationLog); b.PL(genotypeLikelihoods); b.DP(getFilteredDepth(pileup)); genotypes.add(b.make()); @@ -259,4 +259,4 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood return count; } -} \ No newline at end of file +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java index 0652cc236..7d2f794ec 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java @@ -101,9 +101,11 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC // calculate the GLs ArrayList GLs = new ArrayList(contexts.size()); for ( Map.Entry sample : contexts.entrySet() ) { + // Down-sample with bias according to the contamination level (global or per file) ReadBackedPileup pileup = AlignmentContextUtils.stratify(sample.getValue(), contextType).getBasePileup(); - if ( UAC.CONTAMINATION_FRACTION > 0.0 ) - pileup = perReadAlleleLikelihoodMap.createPerAlleleDownsampledBasePileup(pileup, UAC.CONTAMINATION_FRACTION, UAC.contaminationLog); + final Double contamination = UAC.getSampleContamination().get(sample.getKey()); + if( contamination > 0.0 ) //no need to enter if no contamination reduction + pileup = perReadAlleleLikelihoodMap.createPerAlleleDownsampledBasePileup(pileup,contamination, UAC.contaminationLog); if ( useBAQedPileup ) pileup = createBAQedPileup(pileup); diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java index a7f90ebec..14d827747 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java @@ -150,6 +150,7 @@ public class UnifiedArgumentCollection extends StandardCallerArgumentCollection Generalized ploidy argument (debug only): When building site error models, ignore lane information and build only sample-level error model */ + @Hidden @Argument(fullName = "ignoreLaneInfo", shortName = "ignoreLane", doc = "Ignore lane when building error model, error model is then per-site", required = false) public boolean IGNORE_LANE_INFO = false; @@ -157,6 +158,7 @@ public class UnifiedArgumentCollection extends StandardCallerArgumentCollection Generalized ploidy argument: VCF file that contains truth calls for reference sample. If a reference sample is included through argument -refsample, then this argument is required. */ + @Hidden @Input(fullName="reference_sample_calls", shortName = "referenceCalls", doc="VCF file with the truth callset for the reference sample", required=false) RodBinding referenceSampleRod; @@ -165,6 +167,7 @@ public class UnifiedArgumentCollection extends StandardCallerArgumentCollection that a bar-coded reference sample be included with the polyploid/pooled data in a sequencing experimental design. If argument is absent, no per-site error model is included and calling is done with a generalization of traditional statistical calling. */ + @Hidden @Argument(shortName="refsample", fullName="reference_sample_name", doc="Reference sample name.", required=false) String referenceSampleName; @@ -174,6 +177,10 @@ public class UnifiedArgumentCollection extends StandardCallerArgumentCollection @Argument(shortName="ploidy", fullName="sample_ploidy", doc="Plody (number of chromosomes) per sample. For pooled data, set to (Number of samples in each pool * Sample Ploidy).", required=false) public int samplePloidy = GATKVariantContextUtils.DEFAULT_PLOIDY; + + /** + * The following argument are for debug-only tweaks when running generalized ploidy with a reference sample + */ @Hidden @Argument(shortName="minqs", fullName="min_quality_score", doc="Min quality score to consider. Smaller numbers process faster. Default: Q1.", required=false) byte minQualityScore= 1; diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java index d16ece4fd..137a1cfa5 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyper.java @@ -51,6 +51,7 @@ import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.arguments.DbsnpArgumentCollection; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.downsampling.AlleleBiasedDownsamplingUtils; import org.broadinstitute.sting.gatk.downsampling.DownsampleType; import org.broadinstitute.sting.gatk.filters.BadMateFilter; import org.broadinstitute.sting.gatk.filters.MappingQualityUnavailableFilter; @@ -61,6 +62,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.VariantAnnotatorEngine; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.baq.BAQ; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -82,6 +84,7 @@ import java.util.*; * genotype of each sample. The system can either emit just the variant sites or complete genotypes (which includes * homozygous reference calls) satisfying some phred-scaled confidence value. The genotyper can make accurate calls on * both single sample data and multi-sample data. + *

    * *

    Input

    *

    @@ -109,7 +112,7 @@ import java.util.*; * *

    * The above command will call all of the samples in your provided BAM files [-I arguments] together and produce a VCF file - * with sites and genotypes for all samples. The easiest way to get the dbSNP file is from the GATK resource bundle. Several + * with sites and genotypes for all samples. The easiest way to get the dbSNP file is from the GATK resource bundle (see Guide FAQs for details). Several * arguments have parameters that should be chosen based on the average coverage per sample in your data. See the detailed * argument descriptions below. *

    @@ -132,12 +135,12 @@ import java.util.*; *
  • The system can be very aggressive in calling variants. In the 1000 genomes project for pilot 2 (deep coverage of ~35x) * we expect the raw Qscore > 50 variants to contain at least ~10% FP calls. We use extensive post-calling filters to eliminate * most of these FPs. Variant Quality Score Recalibration is a tool to perform this filtering.
    • - *
  • We only handle diploid genotypes
    • + *
  • The generalized ploidy model can be used to handle non-diploid or pooled samples (see the -ploidy argument in the table below).
    • * * */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) @BAQMode(QualityMode = BAQ.QualityMode.ADD_TAG, ApplicationTime = ReadTransformer.ApplicationTime.ON_INPUT) @ReadFilters( {BadMateFilter.class, MappingQualityUnavailableFilter.class} ) @Reference(window=@Window(start=-200,stop=200)) @@ -160,9 +163,9 @@ public class UnifiedGenotyper extends LocusWalker, Unif /** * If a call overlaps with a record from the provided comp track, the INFO field will be annotated - * as such in the output with the track name (e.g. -comp:FOO will have 'FOO' in the INFO field). - * Records that are filtered in the comp track will be ignored. - * Note that 'dbSNP' has been special-cased (see the --dbsnp argument). + * as such in the output with the track name (e.g. -comp:FOO will have 'FOO' in the INFO field). + * Records that are filtered in the comp track will be ignored. + * Note that 'dbSNP' has been special-cased (see the --dbsnp argument). */ @Input(fullName="comp", shortName = "comp", doc="comparison VCF file", required=false) public List> comps = Collections.emptyList(); @@ -257,6 +260,8 @@ public class UnifiedGenotyper extends LocusWalker, Unif if ( UAC.referenceSampleName != null ) samples.remove(UAC.referenceSampleName); } + if ( UAC.CONTAMINATION_FRACTION_FILE != null ) + UAC.setSampleContamination(AlleleBiasedDownsamplingUtils.loadContaminationFile(UAC.CONTAMINATION_FRACTION_FILE, UAC.CONTAMINATION_FRACTION, samples, logger)); // check for a bad max alleles value if ( UAC.MAX_ALTERNATE_ALLELES > GenotypeLikelihoods.MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED) diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java index 19d218023..ede0741ff 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java @@ -46,6 +46,7 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; +import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import org.apache.log4j.Logger; import org.broadinstitute.sting.commandline.RodBinding; @@ -138,6 +139,10 @@ public class UnifiedGenotyperEngine { this(toolkit, UAC, Logger.getLogger(UnifiedGenotyperEngine.class), null, null, SampleUtils.getSAMFileSamples(toolkit.getSAMFileHeader()), GATKVariantContextUtils.DEFAULT_PLOIDY); } + protected UnifiedGenotyperEngine(GenomeAnalysisEngine toolkit, Set samples, UnifiedArgumentCollection UAC) { + this(toolkit, UAC, Logger.getLogger(UnifiedGenotyperEngine.class), null, null, samples, GATKVariantContextUtils.DEFAULT_PLOIDY); + } + @Requires({"toolkit != null", "UAC != null", "logger != null", "samples != null && samples.size() > 0","ploidy>0"}) public UnifiedGenotyperEngine(GenomeAnalysisEngine toolkit, UnifiedArgumentCollection UAC, Logger logger, PrintStream verboseWriter, VariantAnnotatorEngine engine, Set samples, int ploidy) { this.BAQEnabledOnCMDLine = toolkit.getArguments().BAQMode != BAQ.CalculationMode.OFF; @@ -577,43 +582,53 @@ public class UnifiedGenotyperEngine { } private final static double[] binomialProbabilityDepthCache = new double[10000]; + private final static double REF_BINOMIAL_PROB_LOG10_0_5 = Math.log10(0.5); + static { for ( int i = 1; i < binomialProbabilityDepthCache.length; i++ ) { - binomialProbabilityDepthCache[i] = MathUtils.binomialProbability(0, i, 0.5); + binomialProbabilityDepthCache[i] = MathUtils.log10BinomialProbability(i, 0, REF_BINOMIAL_PROB_LOG10_0_5); } } - private final double getRefBinomialProb(final int depth) { + private final double getRefBinomialProbLog10(final int depth) { if ( depth < binomialProbabilityDepthCache.length ) return binomialProbabilityDepthCache[depth]; else - return MathUtils.binomialProbability(0, depth, 0.5); + return MathUtils.log10BinomialProbability(depth, 0, REF_BINOMIAL_PROB_LOG10_0_5); } - private VariantCallContext estimateReferenceConfidence(VariantContext vc, Map contexts, double theta, boolean ignoreCoveredSamples, double initialPofRef) { if ( contexts == null ) return null; - double P_of_ref = initialPofRef; + double log10POfRef = Math.log10(initialPofRef); // for each sample that we haven't examined yet for ( String sample : samples ) { - boolean isCovered = contexts.containsKey(sample); - if ( ignoreCoveredSamples && isCovered ) + final AlignmentContext context = contexts.get(sample); + if ( ignoreCoveredSamples && context != null ) continue; - - - int depth = 0; - - if ( isCovered ) { - depth = contexts.get(sample).getBasePileup().depthOfCoverage(); - } - - P_of_ref *= 1.0 - (theta / 2.0) * getRefBinomialProb(depth); + final int depth = context == null ? 0 : context.getBasePileup().depthOfCoverage(); + log10POfRef += estimateLog10ReferenceConfidenceForOneSample(depth, theta); } - return new VariantCallContext(vc, QualityUtils.phredScaleErrorRate(1.0 - P_of_ref) >= UAC.STANDARD_CONFIDENCE_FOR_CALLING, false); + return new VariantCallContext(vc, QualityUtils.phredScaleLog10CorrectRate(log10POfRef) >= UAC.STANDARD_CONFIDENCE_FOR_CALLING, false); + } + + /** + * Compute the log10 probability of a sample with sequencing depth and no alt allele is actually truly homozygous reference + * + * Assumes the sample is diploid + * + * @param depth the depth of the sample + * @param theta the heterozygosity of this species (between 0 and 1) + * @return a valid log10 probability of the sample being hom-ref + */ + @Requires({"depth >= 0", "theta >= 0.0 && theta <= 1.0"}) + @Ensures("MathUtils.goodLog10Probability(result)") + protected double estimateLog10ReferenceConfidenceForOneSample(final int depth, final double theta) { + final double log10PofNonRef = Math.log10(theta / 2.0) + getRefBinomialProbLog10(depth); + return MathUtils.log10OneMinusX(Math.pow(10.0, log10PofNonRef)); } protected void printVerboseData(String pos, VariantContext vc, double PofF, double phredScaledConfidence, final GenotypeLikelihoodsCalculationModel.Model model) { diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/AFCalc.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/AFCalc.java index 5334847ae..642a2b32f 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/AFCalc.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/AFCalc.java @@ -113,12 +113,14 @@ public abstract class AFCalc implements Cloneable { /** * Compute the probability of the alleles segregating given the genotype likelihoods of the samples in vc * - * @param vc the VariantContext holding the alleles and sample information + * @param vc the VariantContext holding the alleles and sample information. The VariantContext + * must have at least 1 alternative allele * @param log10AlleleFrequencyPriors a prior vector nSamples x 2 in length indicating the Pr(AF = i) * @return result (for programming convenience) */ public AFCalcResult getLog10PNonRef(final VariantContext vc, final double[] log10AlleleFrequencyPriors) { if ( vc == null ) throw new IllegalArgumentException("VariantContext cannot be null"); + if ( vc.getNAlleles() == 1 ) throw new IllegalArgumentException("VariantContext has only a single reference allele, but getLog10PNonRef requires at least one at all " + vc); if ( log10AlleleFrequencyPriors == null ) throw new IllegalArgumentException("priors vector cannot be null"); if ( stateTracker == null ) throw new IllegalArgumentException("Results object cannot be null"); @@ -170,18 +172,19 @@ public abstract class AFCalc implements Cloneable { * @param vc the initial VC provided by the caller to this AFcalculation * @return a potentially simpler VC that's more tractable to genotype */ - @Requires("vc != null") + @Requires({"vc != null", "vc.getNAlleles() > 1"}) @Ensures("result != null") protected abstract VariantContext reduceScope(final VariantContext vc); /** * Actually carry out the log10PNonRef calculation on vc, storing results in results * - * @param vc variant context with alleles and genotype likelihoods + * @param vc variant context with alleles and genotype likelihoods, + * must have at least one alt allele * @param log10AlleleFrequencyPriors priors * @return a AFCalcResult object describing the results of this calculation */ - @Requires({"vc != null", "log10AlleleFrequencyPriors != null"}) + @Requires({"vc != null", "log10AlleleFrequencyPriors != null", "vc.getNAlleles() > 1"}) protected abstract AFCalcResult computeLog10PNonRef(final VariantContext vc, final double[] log10AlleleFrequencyPriors); diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/IndependentAllelesDiploidExactAFCalc.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/IndependentAllelesDiploidExactAFCalc.java index 56d50ceba..af5c79230 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/IndependentAllelesDiploidExactAFCalc.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/afcalc/IndependentAllelesDiploidExactAFCalc.java @@ -156,16 +156,25 @@ import java.util.*; public AFCalcResult computeLog10PNonRef(final VariantContext vc, final double[] log10AlleleFrequencyPriors) { final List independentResultTrackers = computeAlleleIndependentExact(vc, log10AlleleFrequencyPriors); - final List withMultiAllelicPriors = applyMultiAllelicPriors(independentResultTrackers); - return combineIndependentPNonRefs(vc, withMultiAllelicPriors); - } + if ( independentResultTrackers.size() == 0 ) + throw new IllegalStateException("Independent alleles model returned an empty list of results at VC " + vc); + + if ( independentResultTrackers.size() == 1 ) { + // fast path for the very common bi-allelic use case + return independentResultTrackers.get(0); + } else { + // we are a multi-allelic, so we need to actually combine the results + final List withMultiAllelicPriors = applyMultiAllelicPriors(independentResultTrackers); + return combineIndependentPNonRefs(vc, withMultiAllelicPriors); + } + } /** * Compute the conditional exact AFCalcResult for each allele in vc independently, returning * the result of each, in order of the alt alleles in VC * - * @param vc the VariantContext we want to analyze + * @param vc the VariantContext we want to analyze, with at least 1 alt allele * @param log10AlleleFrequencyPriors the priors * @return a list of the AFCalcResults for each bi-allelic sub context of vc */ @@ -208,13 +217,20 @@ import java.util.*; @Ensures("result.size() == vc.getNAlleles() - 1") protected final List makeAlleleConditionalContexts(final VariantContext vc) { final int nAltAlleles = vc.getNAlleles() - 1; - final List vcs = new LinkedList(); - for ( int altI = 0; altI < nAltAlleles; altI++ ) { - vcs.add(biallelicCombinedGLs(vc, altI + 1)); + if ( nAltAlleles == 1 ) { + // fast path for bi-allelic case. + return Collections.singletonList(vc); + } else { + // go through the work of ripping up the VC into its biallelic components + final List vcs = new LinkedList(); + + for ( int altI = 0; altI < nAltAlleles; altI++ ) { + vcs.add(biallelicCombinedGLs(vc, altI + 1)); + } + + return vcs; } - - return vcs; } /** diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssembler.java similarity index 52% rename from protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java rename to protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssembler.java index a007bfa0c..0a552c0a1 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssembler.java @@ -47,19 +47,21 @@ package org.broadinstitute.sting.gatk.walkers.haplotypecaller; import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.Cigar; +import net.sf.samtools.CigarElement; +import net.sf.samtools.CigarOperator; import org.apache.commons.lang.ArrayUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.SWPairwiseAlignment; import org.broadinstitute.sting.utils.activeregion.ActiveRegion; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; import org.broadinstitute.variant.variantcontext.Allele; import org.broadinstitute.variant.variantcontext.VariantContext; -import org.jgrapht.graph.DefaultDirectedGraph; import java.io.PrintStream; import java.util.*; @@ -70,13 +72,14 @@ import java.util.*; * Date: Mar 14, 2011 */ -public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { +public class DeBruijnAssembler extends LocalAssemblyEngine { private static final int KMER_OVERLAP = 5; // the additional size of a valid chunk of sequence, used to string together k-mers private static final int NUM_BEST_PATHS_PER_KMER_GRAPH = 11; private static final byte MIN_QUALITY = (byte) 16; + private static final int GRAPH_KMER_STEP = 6; - // Smith-Waterman parameters originally copied from IndelRealigner + // Smith-Waterman parameters originally copied from IndelRealigner, only used during GGA mode private static final double SW_MATCH = 5.0; // 1.0; private static final double SW_MISMATCH = -10.0; //-1.0/3.0; private static final double SW_GAP = -22.0; //-1.0-1.0/3.0; @@ -84,60 +87,84 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { private final boolean DEBUG; private final PrintStream GRAPH_WRITER; - private final List> graphs = new ArrayList>(); + private final List graphs = new ArrayList(); private final int MIN_KMER; private int PRUNE_FACTOR = 2; - public SimpleDeBruijnAssembler( final boolean debug, final PrintStream graphWriter, final int minKmer ) { + public DeBruijnAssembler(final boolean debug, final PrintStream graphWriter, final int minKmer) { super(); DEBUG = debug; GRAPH_WRITER = graphWriter; MIN_KMER = minKmer; } + /** + * Main entry point into the assembly engine. Build a set of deBruijn graphs out of the provided reference sequence and list of reads + * @param activeRegion ActiveRegion object holding the reads which are to be used during assembly + * @param refHaplotype reference haplotype object + * @param fullReferenceWithPadding byte array holding the reference sequence with padding + * @param refLoc GenomeLoc object corresponding to the reference sequence with padding + * @param PRUNE_FACTOR prune kmers from the graph if their weight is <= this value + * @param activeAllelesToGenotype the alleles to inject into the haplotypes during GGA mode + * @return a non-empty list of all the haplotypes that are produced during assembly + */ + @Ensures({"result.contains(refHaplotype)"}) public List runLocalAssembly( final ActiveRegion activeRegion, final Haplotype refHaplotype, final byte[] fullReferenceWithPadding, final GenomeLoc refLoc, final int PRUNE_FACTOR, final List activeAllelesToGenotype ) { + if( activeRegion == null ) { throw new IllegalArgumentException("Assembly engine cannot be used with a null ActiveRegion."); } + if( refHaplotype == null ) { throw new IllegalArgumentException("Reference haplotype cannot be null."); } + if( fullReferenceWithPadding.length != refLoc.size() ) { throw new IllegalArgumentException("Reference bases and reference loc must be the same size."); } + if( PRUNE_FACTOR < 0 ) { throw new IllegalArgumentException("Pruning factor cannot be negative"); } + + // set the pruning factor for this run of the assembly engine this.PRUNE_FACTOR = PRUNE_FACTOR; // create the graphs createDeBruijnGraphs( activeRegion.getReads(), refHaplotype ); - // clean up the graphs by pruning and merging - for( final DefaultDirectedGraph graph : graphs ) { - pruneGraph( graph, PRUNE_FACTOR ); - //eliminateNonRefPaths( graph ); - mergeNodes( graph ); - } - + // print the graphs if the appropriate debug option has been turned on if( GRAPH_WRITER != null ) { printGraphs(); } - // find the best paths in the graphs + // find the best paths in the graphs and return them as haplotypes return findBestPaths( refHaplotype, fullReferenceWithPadding, refLoc, activeAllelesToGenotype, activeRegion.getExtendedLoc() ); } + @Requires({"reads != null", "refHaplotype != null"}) protected void createDeBruijnGraphs( final List reads, final Haplotype refHaplotype ) { graphs.clear(); - final int maxKmer = refHaplotype.getBases().length; - // create the graph - for( int kmer = MIN_KMER; kmer <= maxKmer; kmer += 6 ) { - final DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); - if( createGraphFromSequences( graph, reads, kmer, refHaplotype, DEBUG ) ) { - graphs.add(graph); + final int maxKmer = ReadUtils.getMaxReadLength(reads) - KMER_OVERLAP - 1; + if( maxKmer < MIN_KMER ) { return; } // Reads are too small for assembly so don't try to create any assembly graphs + + // create the graph for each possible kmer + for( int kmer = maxKmer; kmer >= MIN_KMER; kmer -= GRAPH_KMER_STEP ) { + final DeBruijnAssemblyGraph graph = createGraphFromSequences( reads, kmer, refHaplotype, DEBUG ); + if( graph != null ) { // graphs that fail during creation ( for example, because there are cycles in the reference graph ) will show up here as a null graph object + // do a series of steps to clean up the raw assembly graph to make it analysis-ready + pruneGraph(graph, PRUNE_FACTOR); + cleanNonRefPaths(graph); + mergeNodes(graph); + if( graph.getReferenceSourceVertex() != null ) { // if the graph contains interesting variation from the reference + sanityCheckReferenceGraph(graph, refHaplotype); + graphs.add(graph); + } } } } - protected static void mergeNodes( final DefaultDirectedGraph graph ) { + @Requires({"graph != null"}) + protected static void mergeNodes( final DeBruijnAssemblyGraph graph ) { boolean foundNodesToMerge = true; while( foundNodesToMerge ) { foundNodesToMerge = false; + for( final DeBruijnEdge e : graph.edgeSet() ) { final DeBruijnVertex outgoingVertex = graph.getEdgeTarget(e); final DeBruijnVertex incomingVertex = graph.getEdgeSource(e); - if( !outgoingVertex.equals(incomingVertex) && graph.inDegreeOf(outgoingVertex) == 1 && graph.outDegreeOf(incomingVertex) == 1) { + if( !outgoingVertex.equals(incomingVertex) && graph.outDegreeOf(incomingVertex) == 1 && graph.inDegreeOf(outgoingVertex) == 1 && + graph.inDegreeOf(incomingVertex) <= 1 && graph.outDegreeOf(outgoingVertex) <= 1 && graph.isReferenceNode(incomingVertex) == graph.isReferenceNode(outgoingVertex) ) { final Set outEdges = graph.outgoingEdgesOf(outgoingVertex); final Set inEdges = graph.incomingEdgesOf(incomingVertex); if( inEdges.size() == 1 && outEdges.size() == 1 ) { @@ -167,7 +194,42 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { } } - protected static void pruneGraph( final DefaultDirectedGraph graph, final int pruneFactor ) { + protected static void cleanNonRefPaths( final DeBruijnAssemblyGraph graph ) { + if( graph.getReferenceSourceVertex() == null || graph.getReferenceSinkVertex() == null ) { + return; + } + // Remove non-ref edges connected before and after the reference path + final Set edgesToCheck = new HashSet(); + edgesToCheck.addAll(graph.incomingEdgesOf(graph.getReferenceSourceVertex())); + while( !edgesToCheck.isEmpty() ) { + final DeBruijnEdge e = edgesToCheck.iterator().next(); + if( !e.isRef() ) { + edgesToCheck.addAll( graph.incomingEdgesOf(graph.getEdgeSource(e)) ); + graph.removeEdge(e); + } + edgesToCheck.remove(e); + } + edgesToCheck.addAll(graph.outgoingEdgesOf(graph.getReferenceSinkVertex())); + while( !edgesToCheck.isEmpty() ) { + final DeBruijnEdge e = edgesToCheck.iterator().next(); + if( !e.isRef() ) { + edgesToCheck.addAll( graph.outgoingEdgesOf(graph.getEdgeTarget(e)) ); + graph.removeEdge(e); + } + edgesToCheck.remove(e); + } + + // Run through the graph and clean up singular orphaned nodes + final List verticesToRemove = new ArrayList(); + for( final DeBruijnVertex v : graph.vertexSet() ) { + if( graph.inDegreeOf(v) == 0 && graph.outDegreeOf(v) == 0 ) { + verticesToRemove.add(v); + } + } + graph.removeAllVertices(verticesToRemove); + } + + protected static void pruneGraph( final DeBruijnAssemblyGraph graph, final int pruneFactor ) { final List edgesToRemove = new ArrayList(); for( final DeBruijnEdge e : graph.edgeSet() ) { if( e.getMultiplicity() <= pruneFactor && !e.isRef() ) { // remove non-reference edges with weight less than or equal to the pruning factor @@ -186,50 +248,41 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { graph.removeAllVertices(verticesToRemove); } - protected static void eliminateNonRefPaths( final DefaultDirectedGraph graph ) { - final List verticesToRemove = new ArrayList(); - boolean done = false; - while( !done ) { - done = true; - for( final DeBruijnVertex v : graph.vertexSet() ) { - if( graph.inDegreeOf(v) == 0 || graph.outDegreeOf(v) == 0 ) { - boolean isRefNode = false; - for( final DeBruijnEdge e : graph.edgesOf(v) ) { - if( e.isRef() ) { - isRefNode = true; - break; - } - } - if( !isRefNode ) { - done = false; - verticesToRemove.add(v); - } - } - } - graph.removeAllVertices(verticesToRemove); - verticesToRemove.clear(); + protected static void sanityCheckReferenceGraph(final DeBruijnAssemblyGraph graph, final Haplotype refHaplotype) { + if( graph.getReferenceSourceVertex() == null ) { + throw new IllegalStateException("All reference graphs must have a reference source vertex."); + } + if( graph.getReferenceSinkVertex() == null ) { + throw new IllegalStateException("All reference graphs must have a reference sink vertex."); + } + if( !Arrays.equals(graph.getReferenceBytes(graph.getReferenceSourceVertex(), graph.getReferenceSinkVertex(), true, true), refHaplotype.getBases()) ) { + throw new IllegalStateException("Mismatch between the reference haplotype and the reference assembly graph path." + + " graph = " + new String(graph.getReferenceBytes(graph.getReferenceSourceVertex(), graph.getReferenceSinkVertex(), true, true)) + + " haplotype = " + new String(refHaplotype.getBases()) + ); } } - private static boolean createGraphFromSequences( final DefaultDirectedGraph graph, final Collection reads, final int KMER_LENGTH, final Haplotype refHaplotype, final boolean DEBUG ) { + @Requires({"reads != null", "KMER_LENGTH > 0", "refHaplotype != null"}) + protected static DeBruijnAssemblyGraph createGraphFromSequences( final List reads, final int KMER_LENGTH, final Haplotype refHaplotype, final boolean DEBUG ) { + + final DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); + + // First pull kmers from the reference haplotype and add them to the graph final byte[] refSequence = refHaplotype.getBases(); if( refSequence.length >= KMER_LENGTH + KMER_OVERLAP ) { final int kmersInSequence = refSequence.length - KMER_LENGTH + 1; - for (int i = 0; i < kmersInSequence - 1; i++) { - // get the kmers - final byte[] kmer1 = new byte[KMER_LENGTH]; - System.arraycopy(refSequence, i, kmer1, 0, KMER_LENGTH); - final byte[] kmer2 = new byte[KMER_LENGTH]; - System.arraycopy(refSequence, i+1, kmer2, 0, KMER_LENGTH); - if( !addKmersToGraph(graph, kmer1, kmer2, true) ) { + for( int iii = 0; iii < kmersInSequence - 1; iii++ ) { + if( !graph.addKmersToGraph(Arrays.copyOfRange(refSequence, iii, iii + KMER_LENGTH), Arrays.copyOfRange(refSequence, iii + 1, iii + 1 + KMER_LENGTH), true) ) { if( DEBUG ) { System.out.println("Cycle detected in reference graph for kmer = " + KMER_LENGTH + " ...skipping"); } - return false; + return null; } } } + // Next pull kmers out of every read and throw them on the graph for( final GATKSAMRecord read : reads ) { final byte[] sequence = read.getReadBases(); final byte[] qualities = read.getBaseQualities(); @@ -245,56 +298,30 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { break; } } - int countNumber = 1; - if (read.isReducedRead()) { - // compute mean number of reduced read counts in current kmer span - final byte[] counts = Arrays.copyOfRange(reducedReadCounts,iii,iii+KMER_LENGTH+1); - // precise rounding can make a difference with low consensus counts - countNumber = MathUtils.arrayMax(counts); - // countNumber = (int)Math.round((double)MathUtils.sum(counts)/counts.length); - } - if( !badKmer ) { - // get the kmers - final byte[] kmer1 = new byte[KMER_LENGTH]; - System.arraycopy(sequence, iii, kmer1, 0, KMER_LENGTH); - final byte[] kmer2 = new byte[KMER_LENGTH]; - System.arraycopy(sequence, iii+1, kmer2, 0, KMER_LENGTH); + int countNumber = 1; + if( read.isReducedRead() ) { + // compute mean number of reduced read counts in current kmer span + // precise rounding can make a difference with low consensus counts + countNumber = MathUtils.arrayMax(Arrays.copyOfRange(reducedReadCounts, iii, iii + KMER_LENGTH)); + } - for (int k=0; k < countNumber; k++) - addKmersToGraph(graph, kmer1, kmer2, false); + final byte[] kmer1 = Arrays.copyOfRange(sequence, iii, iii + KMER_LENGTH); + final byte[] kmer2 = Arrays.copyOfRange(sequence, iii + 1, iii + 1 + KMER_LENGTH); + + for( int kkk=0; kkk < countNumber; kkk++ ) { + graph.addKmersToGraph(kmer1, kmer2, false); + } } } } } - return true; - } - - protected static boolean addKmersToGraph( final DefaultDirectedGraph graph, final byte[] kmer1, final byte[] kmer2, final boolean isRef ) { - - final int numVertexBefore = graph.vertexSet().size(); - final DeBruijnVertex v1 = new DeBruijnVertex( kmer1, kmer1.length ); - graph.addVertex(v1); - final DeBruijnVertex v2 = new DeBruijnVertex( kmer2, kmer2.length ); - graph.addVertex(v2); - if( isRef && graph.vertexSet().size() == numVertexBefore ) { return false; } - - final DeBruijnEdge targetEdge = graph.getEdge(v1, v2); - if ( targetEdge == null ) { - graph.addEdge(v1, v2, new DeBruijnEdge( isRef )); - } else { - if( isRef ) { - targetEdge.setIsRef( true ); - } - targetEdge.setMultiplicity(targetEdge.getMultiplicity() + 1); - } - return true; + return graph; } protected void printGraphs() { - int count = 0; - for( final DefaultDirectedGraph graph : graphs ) { - GRAPH_WRITER.println("digraph kmer" + count++ +" {"); + GRAPH_WRITER.println("digraph assemblyGraphs {"); + for( final DeBruijnAssemblyGraph graph : graphs ) { for( final DeBruijnEdge edge : graph.edgeSet() ) { if( edge.getMultiplicity() > PRUNE_FACTOR ) { GRAPH_WRITER.println("\t" + graph.getEdgeSource(edge).toString() + " -> " + graph.getEdgeTarget(edge).toString() + " [" + (edge.getMultiplicity() <= PRUNE_FACTOR ? "style=dotted,color=grey" : "label=\""+ edge.getMultiplicity() +"\"") + "];"); @@ -305,24 +332,23 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { if( !edge.isRef() && edge.getMultiplicity() <= PRUNE_FACTOR ) { System.out.println("Graph pruning warning!"); } } for( final DeBruijnVertex v : graph.vertexSet() ) { - final String label = ( graph.inDegreeOf(v) == 0 ? v.toString() : v.getSuffixString() ); - GRAPH_WRITER.println("\t" + v.toString() + " [label=\"" + label + "\"]"); + GRAPH_WRITER.println("\t" + v.toString() + " [label=\"" + new String(graph.getAdditionalSequence(v)) + "\"]"); } - GRAPH_WRITER.println("}"); } + GRAPH_WRITER.println("}"); } + @Requires({"refWithPadding.length > refHaplotype.getBases().length", "refLoc.containsP(activeRegionWindow)"}) @Ensures({"result.contains(refHaplotype)"}) - private List findBestPaths( final Haplotype refHaplotype, final byte[] fullReferenceWithPadding, final GenomeLoc refLoc, final List activeAllelesToGenotype, final GenomeLoc activeRegionWindow ) { - final List returnHaplotypes = new ArrayList(); + private List findBestPaths( final Haplotype refHaplotype, final byte[] refWithPadding, final GenomeLoc refLoc, final List activeAllelesToGenotype, final GenomeLoc activeRegionWindow ) { - // add the reference haplotype separately from all the others - final SWPairwiseAlignment swConsensus = new SWPairwiseAlignment( fullReferenceWithPadding, refHaplotype.getBases(), SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); - refHaplotype.setAlignmentStartHapwrtRef( swConsensus.getAlignmentStart2wrt1() ); - refHaplotype.setCigar( swConsensus.getCigar() ); - if( !returnHaplotypes.add( refHaplotype ) ) { - throw new ReviewedStingException("Unable to add reference haplotype during assembly: " + refHaplotype); - } + // add the reference haplotype separately from all the others to ensure that it is present in the list of haplotypes + final List returnHaplotypes = new ArrayList(); + refHaplotype.setAlignmentStartHapwrtRef(activeRegionWindow.getStart() - refLoc.getStart()); + final Cigar c = new Cigar(); + c.add(new CigarElement(refHaplotype.getBases().length, CigarOperator.M)); + refHaplotype.setCigar(c); + returnHaplotypes.add( refHaplotype ); final int activeRegionStart = refHaplotype.getAlignmentStartHapwrtRef(); final int activeRegionStop = refHaplotype.getAlignmentStartHapwrtRef() + refHaplotype.getCigar().getReferenceLength(); @@ -331,30 +357,50 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { for( final VariantContext compVC : activeAllelesToGenotype ) { for( final Allele compAltAllele : compVC.getAlternateAlleles() ) { final Haplotype insertedRefHaplotype = refHaplotype.insertAllele(compVC.getReference(), compAltAllele, activeRegionStart + compVC.getStart() - activeRegionWindow.getStart(), compVC.getStart()); - addHaplotype( insertedRefHaplotype, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop, true ); + addHaplotypeForGGA( insertedRefHaplotype, refWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop, true ); } } - for( final DefaultDirectedGraph graph : graphs ) { + for( final DeBruijnAssemblyGraph graph : graphs ) { for ( final KBestPaths.Path path : KBestPaths.getKBestPaths(graph, NUM_BEST_PATHS_PER_KMER_GRAPH) ) { + Haplotype h = new Haplotype( path.getBases() ); + if( !returnHaplotypes.contains(h) ) { + final Cigar cigar = path.calculateCigar(); + if( cigar.isEmpty() ) { + throw new IllegalStateException("Smith-Waterman alignment failure. Cigar = " + cigar + " with reference length " + cigar.getReferenceLength() + " but expecting reference length of " + refHaplotype.getCigar().getReferenceLength()); + } else if ( pathIsTooDivergentFromReference(cigar) || cigar.getReferenceLength() < 60 ) { // N cigar elements means that a bubble was too divergent from the reference so skip over this path + continue; + } else if( cigar.getReferenceLength() != refHaplotype.getCigar().getReferenceLength() ) { // SW failure + throw new IllegalStateException("Smith-Waterman alignment failure. Cigar = " + cigar + " with reference length " + cigar.getReferenceLength() + " but expecting reference length of " + refHaplotype.getCigar().getReferenceLength()); + } + h.setCigar(cigar); - final Haplotype h = new Haplotype( path.getBases() ); - if( addHaplotype( h, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop, false ) ) { + // extend partial haplotypes which are anchored in the reference to include the full active region + h = extendPartialHaplotype(h, activeRegionStart, refWithPadding); + final Cigar leftAlignedCigar = leftAlignCigarSequentially(AlignmentUtils.consolidateCigar(h.getCigar()), refWithPadding, h.getBases(), activeRegionStart, 0); + if( leftAlignedCigar.getReferenceLength() != refHaplotype.getCigar().getReferenceLength() ) { // left alignment failure + continue; + } + if( !returnHaplotypes.contains(h) ) { + h.setAlignmentStartHapwrtRef(activeRegionStart); + h.setCigar( leftAlignedCigar ); + returnHaplotypes.add(h); - // for GGA mode, add the desired allele into the haplotype if it isn't already present - if( !activeAllelesToGenotype.isEmpty() ) { - final Map eventMap = GenotypingEngine.generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), fullReferenceWithPadding, h.getBases(), refLoc, "HCassembly" ); // BUGBUG: need to put this function in a shared place - for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present - final VariantContext vcOnHaplotype = eventMap.get(compVC.getStart()); + // for GGA mode, add the desired allele into the haplotype if it isn't already present + if( !activeAllelesToGenotype.isEmpty() ) { + final Map eventMap = GenotypingEngine.generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), refWithPadding, h.getBases(), refLoc, "HCassembly" ); // BUGBUG: need to put this function in a shared place + for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present + final VariantContext vcOnHaplotype = eventMap.get(compVC.getStart()); - // This if statement used to additionally have: - // "|| !vcOnHaplotype.hasSameAllelesAs(compVC)" - // but that can lead to problems downstream when e.g. you are injecting a 1bp deletion onto - // a haplotype that already contains a 1bp insertion (so practically it is reference but - // falls into the bin for the 1bp deletion because we keep track of the artificial alleles). - if( vcOnHaplotype == null ) { - for( final Allele compAltAllele : compVC.getAlternateAlleles() ) { - addHaplotype( h.insertAllele(compVC.getReference(), compAltAllele, activeRegionStart + compVC.getStart() - activeRegionWindow.getStart(), compVC.getStart()), fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop, false ); + // This if statement used to additionally have: + // "|| !vcOnHaplotype.hasSameAllelesAs(compVC)" + // but that can lead to problems downstream when e.g. you are injecting a 1bp deletion onto + // a haplotype that already contains a 1bp insertion (so practically it is reference but + // falls into the bin for the 1bp deletion because we keep track of the artificial alleles). + if( vcOnHaplotype == null ) { + for( final Allele compAltAllele : compVC.getAlternateAlleles() ) { + addHaplotypeForGGA( h.insertAllele(compVC.getReference(), compAltAllele, activeRegionStart + compVC.getStart() - activeRegionWindow.getStart(), compVC.getStart()), refWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop, false ); + } } } } @@ -363,7 +409,7 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { } } - if( DEBUG ) { + if( DEBUG ) { if( returnHaplotypes.size() > 1 ) { System.out.println("Found " + returnHaplotypes.size() + " candidate haplotypes to evaluate every read against."); } else { @@ -371,51 +417,150 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { } for( final Haplotype h : returnHaplotypes ) { System.out.println( h.toString() ); - System.out.println( "> Cigar = " + h.getCigar() ); + System.out.println( "> Cigar = " + h.getCigar() + " : " + h.getCigar().getReferenceLength() ); } } - return returnHaplotypes; } - private boolean addHaplotype( final Haplotype haplotype, final byte[] ref, final List haplotypeList, final int activeRegionStart, final int activeRegionStop, final boolean FORCE_INCLUSION_FOR_GGA_MODE ) { + /** + * Extend partial haplotypes which are anchored in the reference to include the full active region + * @param haplotype the haplotype to extend + * @param activeRegionStart the place where the active region starts in the ref byte array + * @param refWithPadding the full reference byte array with padding which encompasses the active region + * @return a haplotype fully extended to encompass the active region + */ + @Requires({"haplotype != null", "activeRegionStart > 0", "refWithPadding != null", "refWithPadding.length > 0"}) + @Ensures({"result != null", "result.getCigar() != null"}) + private Haplotype extendPartialHaplotype( final Haplotype haplotype, final int activeRegionStart, final byte[] refWithPadding ) { + final Cigar cigar = haplotype.getCigar(); + final Cigar newCigar = new Cigar(); + byte[] newHaplotypeBases = haplotype.getBases(); + int refPos = activeRegionStart; + int hapPos = 0; + for( CigarElement ce : cigar.getCigarElements() ) { + switch (ce.getOperator()) { + case M: + refPos += ce.getLength(); + hapPos += ce.getLength(); + newCigar.add(ce); + break; + case I: + hapPos += ce.getLength(); + newCigar.add(ce); + break; + case D: + refPos += ce.getLength(); + newCigar.add(ce); + break; + case X: + newHaplotypeBases = ArrayUtils.addAll( Arrays.copyOfRange(newHaplotypeBases, 0, hapPos), + ArrayUtils.addAll(Arrays.copyOfRange(refWithPadding, refPos, refPos + ce.getLength()), + Arrays.copyOfRange(newHaplotypeBases, hapPos, newHaplotypeBases.length))); + refPos += ce.getLength(); + hapPos += ce.getLength(); + newCigar.add(new CigarElement(ce.getLength(), CigarOperator.M)); + break; + default: + throw new IllegalStateException("Unsupported cigar operator detected: " + ce.getOperator()); + } + } + final Haplotype returnHaplotype = new Haplotype(newHaplotypeBases, haplotype.isReference()); + returnHaplotype.setCigar( newCigar ); + return returnHaplotype; + } + + /** + * We use CigarOperator.N as the signal that an incomplete or too divergent bubble was found during bubble traversal + * @param c the cigar to test + * @return true if we should skip over this path + */ + @Requires("c != null") + private boolean pathIsTooDivergentFromReference( final Cigar c ) { + for( final CigarElement ce : c.getCigarElements() ) { + if( ce.getOperator().equals(CigarOperator.N) ) { + return true; + } + } + return false; + } + + /** + * Left align the given cigar sequentially. This is needed because AlignmentUtils doesn't accept cigars with more than one indel in them. + * This is a target of future work to incorporate and generalize into AlignmentUtils for use by others. + * @param cigar the cigar to left align + * @param refSeq the reference byte array + * @param readSeq the read byte array + * @param refIndex 0-based alignment start position on ref + * @param readIndex 0-based alignment start position on read + * @return the left-aligned cigar + */ + @Ensures({"cigar != null", "refSeq != null", "readSeq != null", "refIndex >= 0", "readIndex >= 0"}) + protected static Cigar leftAlignCigarSequentially(final Cigar cigar, final byte[] refSeq, final byte[] readSeq, int refIndex, int readIndex) { + final Cigar cigarToReturn = new Cigar(); + Cigar cigarToAlign = new Cigar(); + for (int i = 0; i < cigar.numCigarElements(); i++) { + final CigarElement ce = cigar.getCigarElement(i); + if (ce.getOperator() == CigarOperator.D || ce.getOperator() == CigarOperator.I) { + cigarToAlign.add(ce); + for( final CigarElement toAdd : AlignmentUtils.leftAlignIndel(cigarToAlign, refSeq, readSeq, refIndex, readIndex, false).getCigarElements() ) { + cigarToReturn.add(toAdd); + } + refIndex += cigarToAlign.getReferenceLength(); + readIndex += cigarToAlign.getReadLength(); + cigarToAlign = new Cigar(); + } else { + cigarToAlign.add(ce); + } + } + if( !cigarToAlign.isEmpty() ) { + for( final CigarElement toAdd : cigarToAlign.getCigarElements() ) { + cigarToReturn.add(toAdd); + } + } + return cigarToReturn; + } + + /** + * Take a haplotype which was generated by injecting an allele into a string of bases and run SW against the reference to determine the variants on the haplotype. + * Unfortunately since this haplotype didn't come from the assembly graph you can't straightforwardly use the bubble traversal algorithm to get this information. + * This is a target for future work as we rewrite the HaplotypeCaller to be more bubble-caller based. + * @param haplotype the candidate haplotype + * @param ref the reference bases to align against + * @param haplotypeList the current list of haplotypes + * @param activeRegionStart the start of the active region in the reference byte array + * @param activeRegionStop the stop of the active region in the reference byte array + * @param FORCE_INCLUSION_FOR_GGA_MODE if true will include in the list even if it already exists + * @return true if the candidate haplotype was successfully incorporated into the haplotype list + */ + @Requires({"ref != null", "ref.length >= activeRegionStop - activeRegionStart"}) + private boolean addHaplotypeForGGA( final Haplotype haplotype, final byte[] ref, final List haplotypeList, final int activeRegionStart, final int activeRegionStop, final boolean FORCE_INCLUSION_FOR_GGA_MODE ) { if( haplotype == null ) { return false; } final SWPairwiseAlignment swConsensus = new SWPairwiseAlignment( ref, haplotype.getBases(), SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); haplotype.setAlignmentStartHapwrtRef( swConsensus.getAlignmentStart2wrt1() ); - haplotype.setCigar( AlignmentUtils.leftAlignIndel(swConsensus.getCigar(), ref, haplotype.getBases(), swConsensus.getAlignmentStart2wrt1(), 0) ); - if( swConsensus.getCigar().toString().contains("S") || swConsensus.getCigar().getReferenceLength() < 60 ) { // protect against SW failures + if( swConsensus.getCigar().toString().contains("S") || swConsensus.getCigar().getReferenceLength() < 60 || swConsensus.getAlignmentStart2wrt1() < 0 ) { // protect against unhelpful haplotype alignments return false; } - final int hapStart = ReadUtils.getReadCoordinateForReferenceCoordinate( haplotype.getAlignmentStartHapwrtRef(), haplotype.getCigar(), activeRegionStart, ReadUtils.ClippingTail.LEFT_TAIL, true ); + haplotype.setCigar( AlignmentUtils.leftAlignIndel(swConsensus.getCigar(), ref, haplotype.getBases(), swConsensus.getAlignmentStart2wrt1(), 0, true) ); + + final int hapStart = ReadUtils.getReadCoordinateForReferenceCoordinate(haplotype.getAlignmentStartHapwrtRef(), haplotype.getCigar(), activeRegionStart, ReadUtils.ClippingTail.LEFT_TAIL, true); int hapStop = ReadUtils.getReadCoordinateForReferenceCoordinate( haplotype.getAlignmentStartHapwrtRef(), haplotype.getCigar(), activeRegionStop, ReadUtils.ClippingTail.RIGHT_TAIL, true ); if( hapStop == ReadUtils.CLIPPING_GOAL_NOT_REACHED && activeRegionStop == haplotype.getAlignmentStartHapwrtRef() + haplotype.getCigar().getReferenceLength() ) { hapStop = activeRegionStop; // contract for getReadCoordinateForReferenceCoordinate function says that if read ends at boundary then it is outside of the clipping goal } byte[] newHaplotypeBases; // extend partial haplotypes to contain the full active region sequence - int leftBreakPoint = 0; - int rightBreakPoint = 0; if( hapStart == ReadUtils.CLIPPING_GOAL_NOT_REACHED && hapStop == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { newHaplotypeBases = ArrayUtils.addAll( ArrayUtils.addAll( ArrayUtils.subarray(ref, activeRegionStart, swConsensus.getAlignmentStart2wrt1()), - haplotype.getBases()), - ArrayUtils.subarray(ref, swConsensus.getAlignmentStart2wrt1() + swConsensus.getCigar().getReferenceLength(), activeRegionStop) ); - leftBreakPoint = swConsensus.getAlignmentStart2wrt1() - activeRegionStart; - rightBreakPoint = leftBreakPoint + haplotype.getBases().length; - //newHaplotypeBases = haplotype.getBases(); - //return false; // piece of haplotype isn't anchored within the active region so don't build a haplotype out of it + haplotype.getBases()), + ArrayUtils.subarray(ref, swConsensus.getAlignmentStart2wrt1() + swConsensus.getCigar().getReferenceLength(), activeRegionStop) ); } else if( hapStart == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { - //return false; newHaplotypeBases = ArrayUtils.addAll( ArrayUtils.subarray(ref, activeRegionStart, swConsensus.getAlignmentStart2wrt1()), ArrayUtils.subarray(haplotype.getBases(), 0, hapStop) ); - //newHaplotypeBases = ArrayUtils.subarray(haplotype.getBases(), 0, hapStop); - leftBreakPoint = swConsensus.getAlignmentStart2wrt1() - activeRegionStart; } else if( hapStop == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { - //return false; newHaplotypeBases = ArrayUtils.addAll( ArrayUtils.subarray(haplotype.getBases(), hapStart, haplotype.getBases().length), ArrayUtils.subarray(ref, swConsensus.getAlignmentStart2wrt1() + swConsensus.getCigar().getReferenceLength(), activeRegionStop) ); - //newHaplotypeBases = ArrayUtils.subarray(haplotype.getBases(), hapStart, haplotype.getBases().length); - rightBreakPoint = haplotype.getBases().length - hapStart; } else { newHaplotypeBases = ArrayUtils.subarray(haplotype.getBases(), hapStart, hapStop); } @@ -424,16 +569,15 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine { final SWPairwiseAlignment swConsensus2 = new SWPairwiseAlignment( ref, h.getBases(), SW_MATCH, SW_MISMATCH, SW_GAP, SW_GAP_EXTEND ); h.setAlignmentStartHapwrtRef( swConsensus2.getAlignmentStart2wrt1() ); - h.setCigar( AlignmentUtils.leftAlignIndel(swConsensus2.getCigar(), ref, h.getBases(), swConsensus2.getAlignmentStart2wrt1(), 0) ); if ( haplotype.isArtificialHaplotype() ) { h.setArtificialEvent(haplotype.getArtificialEvent()); } - h.leftBreakPoint = leftBreakPoint; - h.rightBreakPoint = rightBreakPoint; - if( swConsensus2.getCigar().toString().contains("S") || swConsensus2.getCigar().getReferenceLength() != activeRegionStop - activeRegionStart ) { // protect against SW failures + if( swConsensus2.getCigar().toString().contains("S") || swConsensus2.getCigar().getReferenceLength() != activeRegionStop - activeRegionStart || swConsensus2.getAlignmentStart2wrt1() < 0 ) { // protect against unhelpful haplotype alignments return false; } + h.setCigar( AlignmentUtils.leftAlignIndel(swConsensus2.getCigar(), ref, h.getBases(), swConsensus2.getAlignmentStart2wrt1(), 0, true) ); + if( FORCE_INCLUSION_FOR_GGA_MODE || !haplotypeList.contains(h) ) { haplotypeList.add(h); return true; diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblyGraph.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblyGraph.java new file mode 100644 index 000000000..6a95049d1 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblyGraph.java @@ -0,0 +1,321 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; 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Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import org.apache.commons.lang.ArrayUtils; +import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.jgrapht.graph.DefaultDirectedGraph; + +import java.io.PrintStream; +import java.util.Arrays; + +/** + * Created with IntelliJ IDEA. + * User: rpoplin + * Date: 2/6/13 + */ + +public class DeBruijnAssemblyGraph extends DefaultDirectedGraph { + + public DeBruijnAssemblyGraph() { + super(DeBruijnEdge.class); + } + + /** + * @param v the vertex to test + * @return true if this vertex is a reference node (meaning that it appears on the reference path in the graph) + */ + public boolean isReferenceNode( final DeBruijnVertex v ) { + if( v == null ) { throw new IllegalArgumentException("Attempting to test a null vertex."); } + for( final DeBruijnEdge e : edgesOf(v) ) { + if( e.isRef() ) { return true; } + } + return false; + } + + /** + * @param v the vertex to test + * @return true if this vertex is a source node + */ + public boolean isSource( final DeBruijnVertex v ) { + if( v == null ) { throw new IllegalArgumentException("Attempting to test a null vertex."); } + return inDegreeOf(v) == 0; + } + + /** + * Pull out the additional sequence implied by traversing this node in the graph + * @param v the vertex from which to pull out the additional base sequence + * @return non-null byte array + */ + @Ensures({"result != null"}) + public byte[] getAdditionalSequence( final DeBruijnVertex v ) { + if( v == null ) { throw new IllegalArgumentException("Attempting to pull sequence from a null vertex."); } + return ( isSource(v) ? v.getSequence() : v.getSuffix() ); + } + + /** + * @param e the edge to test + * @return true if this edge is a reference source edge + */ + public boolean isRefSource( final DeBruijnEdge e ) { + if( e == null ) { throw new IllegalArgumentException("Attempting to test a null edge."); } + for( final DeBruijnEdge edgeToTest : incomingEdgesOf(getEdgeSource(e)) ) { + if( edgeToTest.isRef() ) { return false; } + } + return true; + } + + /** + * @param v the vertex to test + * @return true if this vertex is a reference source + */ + public boolean isRefSource( final DeBruijnVertex v ) { + if( v == null ) { throw new IllegalArgumentException("Attempting to test a null vertex."); } + for( final DeBruijnEdge edgeToTest : incomingEdgesOf(v) ) { + if( edgeToTest.isRef() ) { return false; } + } + return true; + } + + /** + * @param e the edge to test + * @return true if this edge is a reference sink edge + */ + public boolean isRefSink( final DeBruijnEdge e ) { + if( e == null ) { throw new IllegalArgumentException("Attempting to test a null edge."); } + for( final DeBruijnEdge edgeToTest : outgoingEdgesOf(getEdgeTarget(e)) ) { + if( edgeToTest.isRef() ) { return false; } + } + return true; + } + + /** + * @param v the vertex to test + * @return true if this vertex is a reference sink + */ + public boolean isRefSink( final DeBruijnVertex v ) { + if( v == null ) { throw new IllegalArgumentException("Attempting to test a null vertex."); } + for( final DeBruijnEdge edgeToTest : outgoingEdgesOf(v) ) { + if( edgeToTest.isRef() ) { return false; } + } + return true; + } + + /** + * @return the reference source vertex pulled from the graph, can be null if it doesn't exist in the graph + */ + public DeBruijnVertex getReferenceSourceVertex( ) { + for( final DeBruijnVertex v : vertexSet() ) { + if( isReferenceNode(v) && isRefSource(v) ) { + return v; + } + } + return null; + } + + /** + * @return the reference sink vertex pulled from the graph, can be null if it doesn't exist in the graph + */ + public DeBruijnVertex getReferenceSinkVertex( ) { + for( final DeBruijnVertex v : vertexSet() ) { + if( isReferenceNode(v) && isRefSink(v) ) { + return v; + } + } + return null; + } + + /** + * Traverse the graph and get the next reference vertex if it exists + * @param v the current vertex, can be null + * @return the next reference vertex if it exists + */ + public DeBruijnVertex getNextReferenceVertex( final DeBruijnVertex v ) { + if( v == null ) { return null; } + for( final DeBruijnEdge edgeToTest : outgoingEdgesOf(v) ) { + if( edgeToTest.isRef() ) { + return getEdgeTarget(edgeToTest); + } + } + return null; + } + + /** + * Traverse the graph and get the previous reference vertex if it exists + * @param v the current vertex, can be null + * @return the previous reference vertex if it exists + */ + public DeBruijnVertex getPrevReferenceVertex( final DeBruijnVertex v ) { + if( v == null ) { return null; } + for( final DeBruijnEdge edgeToTest : incomingEdgesOf(v) ) { + if( isReferenceNode(getEdgeSource(edgeToTest)) ) { + return getEdgeSource(edgeToTest); + } + } + return null; + } + + /** + * Does a reference path exist between the two vertices? + * @param fromVertex from this vertex, can be null + * @param toVertex to this vertex, can be null + * @return true if a reference path exists in the graph between the two vertices + */ + public boolean referencePathExists(final DeBruijnVertex fromVertex, final DeBruijnVertex toVertex) { + DeBruijnVertex v = fromVertex; + if( v == null ) { + return false; + } + v = getNextReferenceVertex(v); + if( v == null ) { + return false; + } + while( !v.equals(toVertex) ) { + v = getNextReferenceVertex(v); + if( v == null ) { + return false; + } + } + return true; + } + + /** + * Walk along the reference path in the graph and pull out the corresponding bases + * @param fromVertex starting vertex + * @param toVertex ending vertex + * @param includeStart should the starting vertex be included in the path + * @param includeStop should the ending vertex be included in the path + * @return byte[] array holding the reference bases, this can be null if there are no nodes between the starting and ending vertex (insertions for example) + */ + public byte[] getReferenceBytes( final DeBruijnVertex fromVertex, final DeBruijnVertex toVertex, final boolean includeStart, final boolean includeStop ) { + if( fromVertex == null ) { throw new IllegalArgumentException("Starting vertex in requested path cannot be null."); } + if( toVertex == null ) { throw new IllegalArgumentException("From vertex in requested path cannot be null."); } + + byte[] bytes = null; + DeBruijnVertex v = fromVertex; + if( includeStart ) { + bytes = ArrayUtils.addAll(bytes, getAdditionalSequence(v)); + } + v = getNextReferenceVertex(v); // advance along the reference path + while( v != null && !v.equals(toVertex) ) { + bytes = ArrayUtils.addAll( bytes, getAdditionalSequence(v) ); + v = getNextReferenceVertex(v); // advance along the reference path + } + if( includeStop && v != null && v.equals(toVertex)) { + bytes = ArrayUtils.addAll(bytes, getAdditionalSequence(v)); + } + return bytes; + } + + /** + * Pull kmers out of the given long sequence and throw them on in the graph + * @param sequence byte array holding the sequence with which to build the assembly graph + * @param KMER_LENGTH the desired kmer length to use + * @param isRef if true the kmers added to the graph will have reference edges linking them + */ + public void addSequenceToGraph( final byte[] sequence, final int KMER_LENGTH, final boolean isRef ) { + if( sequence.length < KMER_LENGTH + 1 ) { throw new IllegalArgumentException("Provided sequence is too small for the given kmer length"); } + final int kmersInSequence = sequence.length - KMER_LENGTH + 1; + for( int iii = 0; iii < kmersInSequence - 1; iii++ ) { + addKmersToGraph(Arrays.copyOfRange(sequence, iii, iii + KMER_LENGTH), Arrays.copyOfRange(sequence, iii + 1, iii + 1 + KMER_LENGTH), isRef); + } + } + + /** + * Add edge to assembly graph connecting the two kmers + * @param kmer1 the source kmer for the edge + * @param kmer2 the target kmer for the edge + * @param isRef true if the added edge is a reference edge + * @return will return false if trying to add a reference edge which creates a cycle in the assembly graph + */ + public boolean addKmersToGraph( final byte[] kmer1, final byte[] kmer2, final boolean isRef ) { + if( kmer1 == null ) { throw new IllegalArgumentException("Attempting to add a null kmer to the graph."); } + if( kmer2 == null ) { throw new IllegalArgumentException("Attempting to add a null kmer to the graph."); } + if( kmer1.length != kmer2.length ) { throw new IllegalArgumentException("Attempting to add a kmers to the graph with different lengths."); } + + final int numVertexBefore = vertexSet().size(); + final DeBruijnVertex v1 = new DeBruijnVertex( kmer1, kmer1.length ); + addVertex(v1); + final DeBruijnVertex v2 = new DeBruijnVertex( kmer2, kmer2.length ); + addVertex(v2); + if( isRef && vertexSet().size() == numVertexBefore ) { return false; } + + final DeBruijnEdge targetEdge = getEdge(v1, v2); + if ( targetEdge == null ) { + addEdge(v1, v2, new DeBruijnEdge( isRef )); + } else { + if( isRef ) { + targetEdge.setIsRef( true ); + } + targetEdge.setMultiplicity(targetEdge.getMultiplicity() + 1); + } + return true; + } + + /** + * Print out the graph in the dot language for visualization + * @param GRAPH_WRITER PrintStream to write to + */ + public void printGraph( final PrintStream GRAPH_WRITER ) { + if( GRAPH_WRITER == null ) { throw new IllegalArgumentException("PrintStream cannot be null."); } + + GRAPH_WRITER.println("digraph assembly {"); + for( final DeBruijnEdge edge : edgeSet() ) { + GRAPH_WRITER.println("\t" + getEdgeSource(edge).toString() + " -> " + getEdgeTarget(edge).toString() + " [" + "label=\""+ edge.getMultiplicity() +"\"" + "];"); + if( edge.isRef() ) { + GRAPH_WRITER.println("\t" + getEdgeSource(edge).toString() + " -> " + getEdgeTarget(edge).toString() + " [color=red];"); + } + } + for( final DeBruijnVertex v : vertexSet() ) { + final String label = ( inDegreeOf(v) == 0 ? v.toString() : v.getSuffixString() ); + GRAPH_WRITER.println("\t" + v.toString() + " [label=\"" + label + "\"]"); + } + GRAPH_WRITER.println("}"); + } +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java index 8d7732a87..28c735b5c 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java @@ -95,12 +95,12 @@ public class DeBruijnEdge { } // For use when comparing edges pulled from the same graph - public boolean equals( final DefaultDirectedGraph graph, final DeBruijnEdge edge ) { + public boolean equals( final DeBruijnAssemblyGraph graph, final DeBruijnEdge edge ) { return (graph.getEdgeSource(this).equals(graph.getEdgeSource(edge))) && (graph.getEdgeTarget(this).equals(graph.getEdgeTarget(edge))); } // For use when comparing edges across graphs! - public boolean equals( final DefaultDirectedGraph graph, final DeBruijnEdge edge, final DefaultDirectedGraph graph2 ) { + public boolean equals( final DeBruijnAssemblyGraph graph, final DeBruijnEdge edge, final DeBruijnAssemblyGraph graph2 ) { return (graph.getEdgeSource(this).equals(graph2.getEdgeSource(edge))) && (graph.getEdgeTarget(this).equals(graph2.getEdgeTarget(edge))); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java index c6f23359b..1390b0ee9 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java @@ -83,7 +83,7 @@ public class DeBruijnVertex { } public String getSuffixString() { - return new String( getSuffix() ); + return new String(getSuffix()); } @Ensures("result != null") diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java index 8b789791d..ae181aa69 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java @@ -79,17 +79,87 @@ public class GenotypingEngine { noCall.add(Allele.NO_CALL); } + /** + * Carries the result of a call to #assignGenotypeLikelihoods + */ + public static class CalledHaplotypes { + private final List calls; + private final Set calledHaplotypes; + + protected CalledHaplotypes(final List calls, final Set calledHaplotypes) { + if ( calls == null ) throw new IllegalArgumentException("calls cannot be null"); + if ( calledHaplotypes == null ) throw new IllegalArgumentException("calledHaplotypes cannot be null"); + if ( Utils.xor(calls.isEmpty(), calledHaplotypes.isEmpty()) ) + throw new IllegalArgumentException("Calls and calledHaplotypes should both be empty or both not but got calls=" + calls + " calledHaplotypes=" + calledHaplotypes); + this.calls = calls; + this.calledHaplotypes = calledHaplotypes; + } + + /** + * Get the list of calls made at this location + * @return a non-null (but potentially empty) list of calls + */ + public List getCalls() { + return calls; + } + + /** + * Get the set of haplotypes that we actually called (i.e., underlying one of the VCs in getCalls(). + * @return a non-null set of haplotypes + */ + public Set getCalledHaplotypes() { + return calledHaplotypes; + } + } + + /** + * Main entry point of class - given a particular set of haplotypes, samples and reference context, compute + * genotype likelihoods and assemble into a list of variant contexts and genomic events ready for calling + * + * @param UG_engine UG Engine with basic input parameters + * @param haplotypes Haplotypes to assign likelihoods to + * @param samples Samples to genotype + * @param haplotypeReadMap Map from reads->(haplotypes,likelihoods) + * @param perSampleFilteredReadList + * @param ref Reference bytes at active region + * @param refLoc Corresponding active region genome location + * @param activeRegionWindow Active window + * @param genomeLocParser GenomeLocParser + * @param activeAllelesToGenotype Alleles to genotype + * @return A CalledHaplotypes object containing a list of VC's with genotyped events and called haplotypes + */ @Requires({"refLoc.containsP(activeRegionWindow)", "haplotypes.size() > 0"}) - public List assignGenotypeLikelihoods( final UnifiedGenotyperEngine UG_engine, - final List haplotypes, - final List samples, - final Map haplotypeReadMap, - final Map> perSampleFilteredReadList, - final byte[] ref, - final GenomeLoc refLoc, - final GenomeLoc activeRegionWindow, - final GenomeLocParser genomeLocParser, - final List activeAllelesToGenotype ) { + @Ensures("result != null") + // TODO - can this be refactored? this is hard to follow! + public CalledHaplotypes assignGenotypeLikelihoods( final UnifiedGenotyperEngine UG_engine, + final List haplotypes, + final List samples, + final Map haplotypeReadMap, + final Map> perSampleFilteredReadList, + final byte[] ref, + final GenomeLoc refLoc, + final GenomeLoc activeRegionWindow, + final GenomeLocParser genomeLocParser, + final List activeAllelesToGenotype ) { + // sanity check input arguments + if (UG_engine == null) + throw new IllegalArgumentException("UG_Engine input can't be null, got "+UG_engine); + if (haplotypes == null || haplotypes.isEmpty()) + throw new IllegalArgumentException("haplotypes input should be non-empty and non-null, got "+haplotypes); + if (samples == null || samples.isEmpty()) + throw new IllegalArgumentException("samples input must be non-empty and non-null, got "+samples); + if (haplotypeReadMap == null || haplotypeReadMap.isEmpty()) + throw new IllegalArgumentException("haplotypeReadMap input should be non-empty and non-null, got "+haplotypeReadMap); + if (ref == null || ref.length == 0 ) + throw new IllegalArgumentException("ref bytes input should be non-empty and non-null, got "+ref); + if (refLoc == null || refLoc.getStop()-refLoc.getStart()+1 != ref.length) + throw new IllegalArgumentException(" refLoc must be non-null and length must match ref bytes, got "+refLoc); + if (activeRegionWindow == null ) + throw new IllegalArgumentException("activeRegionWindow must be non-null, got "+activeRegionWindow); + if (activeAllelesToGenotype == null ) + throw new IllegalArgumentException("activeAllelesToGenotype must be non-null, got "+activeAllelesToGenotype); + if (genomeLocParser == null ) + throw new IllegalArgumentException("genomeLocParser must be non-null, got "+genomeLocParser); final List returnCalls = new ArrayList(); final boolean in_GGA_mode = !activeAllelesToGenotype.isEmpty(); @@ -105,7 +175,6 @@ public class GenotypingEngine { if( DEBUG ) { System.out.println( h.toString() ); System.out.println( "> Cigar = " + h.getCigar() ); - System.out.println( "> Left and right breaks = (" + h.leftBreakPoint + " , " + h.rightBreakPoint + ")"); System.out.println( ">> Events = " + h.getEventMap()); } } @@ -121,6 +190,8 @@ public class GenotypingEngine { } } + final Set calledHaplotypes = new HashSet(); + // Walk along each position in the key set and create each event to be outputted for( final int loc : startPosKeySet ) { if( loc >= activeRegionWindow.getStart() && loc <= activeRegionWindow.getStop() ) { // genotyping an event inside this active region @@ -180,7 +251,7 @@ public class GenotypingEngine { if( eventsAtThisLoc.size() != mergedVC.getAlternateAlleles().size() ) { throw new ReviewedStingException("Record size mismatch! Something went wrong in the merging of alleles."); } - final Map mergeMap = new HashMap(); + final Map mergeMap = new LinkedHashMap(); mergeMap.put(null, mergedVC.getReference()); // the reference event (null) --> the reference allele for(int iii = 0; iii < mergedVC.getAlternateAlleles().size(); iii++) { mergeMap.put(eventsAtThisLoc.get(iii), mergedVC.getAlternateAllele(iii)); // BUGBUG: This is assuming that the order of alleles is the same as the priority list given to simpleMerge function @@ -203,6 +274,10 @@ public class GenotypingEngine { final Map stratifiedReadMap = filterToOnlyOverlappingReads( genomeLocParser, alleleReadMap_annotations, perSampleFilteredReadList, call ); VariantContext annotatedCall = annotationEngine.annotateContext(stratifiedReadMap, call); + // maintain the set of all called haplotypes + for ( final Allele calledAllele : call.getAlleles() ) + calledHaplotypes.addAll(alleleMapper.get(calledAllele)); + if( annotatedCall.getAlleles().size() != mergedVC.getAlleles().size() ) { // some alleles were removed so reverseTrimming might be necessary! annotatedCall = GATKVariantContextUtils.reverseTrimAlleles(annotatedCall); } @@ -211,9 +286,18 @@ public class GenotypingEngine { } } } - return returnCalls; + return new CalledHaplotypes(returnCalls, calledHaplotypes); } + /** + * For a particular event described in inputVC, form PL vector for each sample by looking into allele read map and filling likelihood matrix for each allele + * @param samples List of samples to genotype + * @param alleleReadMap Allele map describing mapping from reads to alleles and corresponding likelihoods + * @param mergedVC Input VC with event to genotype + * @return GenotypesContext object wrapping genotype objects with PLs + */ + @Requires({"samples != null","alleleReadMap!= null", "mergedVC != null"}) + @Ensures("result != null") private GenotypesContext calculateGLsForThisEvent( final List samples, final Map alleleReadMap, final VariantContext mergedVC ) { final GenotypesContext genotypes = GenotypesContext.create(samples.size()); // Grab the genotype likelihoods from the appropriate places in the haplotype likelihood matrix -- calculation performed independently per sample @@ -254,7 +338,7 @@ public class GenotypingEngine { final Map> perSampleFilteredReadList, final VariantContext call ) { - final Map returnMap = new HashMap(); + final Map returnMap = new LinkedHashMap(); final GenomeLoc callLoc = parser.createGenomeLoc(call); for( final Map.Entry sample : perSampleReadMap.entrySet() ) { final PerReadAlleleLikelihoodMap likelihoodMap = new PerReadAlleleLikelihoodMap(); @@ -283,6 +367,12 @@ public class GenotypingEngine { return returnMap; } + /** + * Removes symbolic events from list of haplotypes + * @param haplotypes Input/output list of haplotypes, before/after removal + */ + // TODO - split into input haplotypes and output haplotypes as not to share I/O arguments + @Requires("haplotypes != null") protected static void cleanUpSymbolicUnassembledEvents( final List haplotypes ) { final List haplotypesToRemove = new ArrayList(); for( final Haplotype h : haplotypes ) { @@ -308,7 +398,7 @@ public class GenotypingEngine { final double downsamplingFraction, final PrintStream downsamplingLog ) { - final Map alleleReadMap = new HashMap(); + final Map alleleReadMap = new LinkedHashMap(); for( final Map.Entry haplotypeReadMapEntry : haplotypeReadMap.entrySet() ) { // for each sample final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = new PerReadAlleleLikelihoodMap(); for( final Map.Entry> alleleMapperEntry : alleleMapper.entrySet() ) { // for each output allele @@ -316,7 +406,7 @@ public class GenotypingEngine { for( final Map.Entry> readEntry : haplotypeReadMapEntry.getValue().getLikelihoodReadMap().entrySet() ) { // for each read double maxLikelihood = Double.NEGATIVE_INFINITY; for( final Map.Entry alleleDoubleEntry : readEntry.getValue().entrySet() ) { // for each input allele - if( mappedHaplotypes.contains( new Haplotype(alleleDoubleEntry.getKey().getBases())) ) { // exact match of haplotype base string + if( mappedHaplotypes.contains( new Haplotype(alleleDoubleEntry.getKey())) ) { // exact match of haplotype base string maxLikelihood = Math.max( maxLikelihood, alleleDoubleEntry.getValue() ); } } @@ -330,6 +420,15 @@ public class GenotypingEngine { return alleleReadMap; } + /** + * TODO - comment me, clean me, refactor me! + * @param haplotypes + * @param samples + * @param haplotypeReadMap + * @param startPosKeySet + * @param ref + * @param refLoc + */ protected void mergeConsecutiveEventsBasedOnLD( final List haplotypes, final List samples, final Map haplotypeReadMap, @@ -381,7 +480,7 @@ public class GenotypingEngine { } // count up the co-occurrences of the events for the R^2 calculation for( final String sample : samples ) { - final double haplotypeLikelihood = LikelihoodCalculationEngine.computeDiploidHaplotypeLikelihoods( Collections.singleton(sample), haplotypeReadMap, Collections.singletonList(Allele.create(h.getBases())) )[0][0]; + final double haplotypeLikelihood = LikelihoodCalculationEngine.computeDiploidHaplotypeLikelihoods( Collections.singleton(sample), haplotypeReadMap, Collections.singletonList(Allele.create(h, true)) )[0][0]; if( thisHapVC == null ) { if( nextHapVC == null ) { x11 = MathUtils.approximateLog10SumLog10(x11, haplotypeLikelihood); } else { x12 = MathUtils.approximateLog10SumLog10(x12, haplotypeLikelihood); } @@ -474,7 +573,7 @@ public class GenotypingEngine { } protected static Map> createAlleleMapper( final Map mergeMap, final Map> eventMap ) { - final Map> alleleMapper = new HashMap>(); + final Map> alleleMapper = new LinkedHashMap>(); for( final Map.Entry entry : mergeMap.entrySet() ) { alleleMapper.put(entry.getValue(), eventMap.get(new Event(entry.getKey()))); } @@ -485,7 +584,7 @@ public class GenotypingEngine { @Ensures({"result.size() == eventsAtThisLoc.size() + 1"}) protected static Map> createEventMapper( final int loc, final List eventsAtThisLoc, final List haplotypes ) { - final Map> eventMapper = new HashMap>(eventsAtThisLoc.size()+1); + final Map> eventMapper = new LinkedHashMap>(eventsAtThisLoc.size()+1); VariantContext refVC = eventsAtThisLoc.get(0); // the genome loc is the only safe thing to pull out of this VC because ref/alt pairs might change reference basis eventMapper.put(new Event(null), new ArrayList()); for( final VariantContext vc : eventsAtThisLoc ) { @@ -598,13 +697,14 @@ public class GenotypingEngine { } protected static Map generateVCsFromAlignment( final Haplotype haplotype, final int alignmentStartHapwrtRef, final Cigar cigar, final byte[] ref, final byte[] alignment, final GenomeLoc refLoc, final String sourceNameToAdd ) { - final Map vcs = new HashMap(); + final Map vcs = new LinkedHashMap(); int refPos = alignmentStartHapwrtRef; if( refPos < 0 ) { return null; } // Protection against SW failures int alignmentPos = 0; - for( final CigarElement ce : cigar.getCigarElements() ) { + for( int cigarIndex = 0; cigarIndex < cigar.numCigarElements(); cigarIndex++ ) { + final CigarElement ce = cigar.getCigarElement(cigarIndex); final int elementLength = ce.getLength(); switch( ce.getOperator() ) { case I: @@ -615,7 +715,7 @@ public class GenotypingEngine { if( BaseUtils.isRegularBase(refByte) ) { insertionAlleles.add( Allele.create(refByte, true) ); } - if( (haplotype.leftBreakPoint != 0 || haplotype.rightBreakPoint != 0) && (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1 || haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1) ) { + if( cigarIndex == 0 || cigarIndex == cigar.getCigarElements().size() - 1 ) { // if the insertion isn't completely resolved in the haplotype then make it a symbolic allele insertionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE ); } else { byte[] insertionBases = new byte[]{}; @@ -641,20 +741,12 @@ public class GenotypingEngine { final byte[] deletionBases = Arrays.copyOfRange( ref, refPos - 1, refPos + elementLength ); // add padding base final List deletionAlleles = new ArrayList(); final int deletionStart = refLoc.getStart() + refPos - 1; - // BUGBUG: how often does this symbolic deletion allele case happen? - //if( haplotype != null && ( (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 >= deletionStart && haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 < deletionStart + elementLength) - // || (haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 >= deletionStart && haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() + elementLength - 1 < deletionStart + elementLength) ) ) { - // deletionAlleles.add( Allele.create(ref[refPos-1], true) ); - // deletionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE ); - // vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart, deletionAlleles).make()); - //} else { final byte refByte = ref[refPos-1]; if( BaseUtils.isRegularBase(refByte) && BaseUtils.isAllRegularBases(deletionBases) ) { deletionAlleles.add( Allele.create(deletionBases, true) ); deletionAlleles.add( Allele.create(refByte, false) ); vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart + elementLength, deletionAlleles).make()); } - //} refPos += elementLength; break; } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java index 027c62e68..003b8197f 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java @@ -47,10 +47,8 @@ package org.broadinstitute.sting.gatk.walkers.haplotypecaller; import com.google.java.contract.Ensures; -import net.sf.samtools.*; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.CommandLineGATK; -import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.arguments.DbsnpArgumentCollection; import org.broadinstitute.sting.gatk.arguments.StandardCallerArgumentCollection; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; @@ -73,21 +71,23 @@ import org.broadinstitute.sting.utils.activeregion.ActiveRegion; import org.broadinstitute.sting.utils.activeregion.ActiveRegionReadState; import org.broadinstitute.sting.utils.activeregion.ActivityProfileState; import org.broadinstitute.sting.utils.clipping.ReadClipper; -import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; -import org.broadinstitute.variant.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.fragments.FragmentCollection; import org.broadinstitute.sting.utils.fragments.FragmentUtils; import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; +import org.broadinstitute.sting.utils.haplotypeBAMWriter.HaplotypeBAMWriter; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pairhmm.PairHMM; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; +import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.variantcontext.*; import org.broadinstitute.variant.variantcontext.writer.VariantContextWriter; +import org.broadinstitute.variant.vcf.*; import java.io.FileNotFoundException; import java.io.PrintStream; @@ -129,11 +129,11 @@ import java.util.*; * @since 8/22/11 */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) @PartitionBy(PartitionType.LOCUS) @BAQMode(ApplicationTime = ReadTransformer.ApplicationTime.FORBIDDEN) -@ActiveRegionTraversalParameters(extension=65, maxRegion=300) -@Downsample(by= DownsampleType.BY_SAMPLE, toCoverage=20) +@ActiveRegionTraversalParameters(extension=85, maxRegion=300) +@Downsample(by= DownsampleType.BY_SAMPLE, toCoverage=250) public class HaplotypeCaller extends ActiveRegionWalker implements AnnotatorCompatible { /** @@ -146,15 +146,39 @@ public class HaplotypeCaller extends ActiveRegionWalker implem protected PrintStream graphWriter = null; /** - * The assembled haplotypes will be written as BAM to this file if requested. Really for debugging purposes only. Note that the output here - * does not include uninformative reads so that not every input read is emitted to the bam. + * The assembled haplotypes will be written as BAM to this file if requested. Really for debugging purposes only. + * Note that the output here does not include uninformative reads so that not every input read is emitted to the bam. + * + * Turning on this mode may result in serious performance cost for the HC. It's really only approprate to + * use in specific areas where you want to better understand why the HC is making specific calls. + * + * The reads are written out containing a HC tag (integer) that encodes which haplotype each read best matches + * according to the haplotype caller's likelihood calculation. The use of this tag is primarily intended + * to allow good coloring of reads in IGV. Simply go to Color Alignments By > Tag and enter HC to more + * easily see which reads go with these haplotype. + * + * Note that the haplotypes (called or all, depending on mode) are emitted as single reads covering the entire + * active region, coming from read HC and a special read group. + * + * Note that only reads that are actually informative about the haplotypes are emitted. By informative we mean + * that there's a meaningful difference in the likelihood of the read coming from one haplotype compared to + * its next best haplotype. + * + * The best way to visualize the output of this mode is with IGV. Tell IGV to color the alignments by tag, + * and give it the HC tag, so you can see which reads support each haplotype. Finally, you can tell IGV + * to group by sample, which will separate the potential haplotypes from the reads. All of this can be seen + * in the following screenshot: https://www.dropbox.com/s/xvy7sbxpf13x5bp/haplotypecaller%20bamout%20for%20docs.png + * */ - @Hidden - @Output(fullName="bamOutput", shortName="bam", doc="File to which assembled haplotypes should be written", required = false) + @Output(fullName="bamOutput", shortName="bamout", doc="File to which assembled haplotypes should be written", required = false) protected StingSAMFileWriter bamWriter = null; - private SAMFileHeader bamHeader = null; - private long uniqueNameCounter = 1; - private final static String readGroupId = "ArtificialHaplotype"; + private HaplotypeBAMWriter haplotypeBAMWriter; + + /** + * The type of BAM output we want to see. + */ + @Output(fullName="bamWriterType", shortName="bamWriterType", doc="How should haplotypes be written to the BAM?", required = false) + public HaplotypeBAMWriter.Type bamWriterType = HaplotypeBAMWriter.Type.CALLED_HAPLOTYPES; /** * The PairHMM implementation to use for genotype likelihood calculations. The various implementations balance a tradeoff of accuracy and runtime. @@ -269,7 +293,7 @@ public class HaplotypeCaller extends ActiveRegionWalker implem private CachingIndexedFastaSequenceFile referenceReader; // reference base padding size - private static final int REFERENCE_PADDING = 900; + private static final int REFERENCE_PADDING = 500; // bases with quality less than or equal to this value are trimmed off the tails of the reads private static final byte MIN_TAIL_QUALITY = 20; @@ -305,9 +329,18 @@ public class HaplotypeCaller extends ActiveRegionWalker implem simpleUAC.STANDARD_CONFIDENCE_FOR_CALLING = Math.min( 4.0, UAC.STANDARD_CONFIDENCE_FOR_CALLING ); // low values used for isActive determination only, default/user-specified values used for actual calling simpleUAC.STANDARD_CONFIDENCE_FOR_EMITTING = Math.min( 4.0, UAC.STANDARD_CONFIDENCE_FOR_EMITTING ); // low values used for isActive determination only, default/user-specified values used for actual calling simpleUAC.CONTAMINATION_FRACTION = 0.0; + simpleUAC.CONTAMINATION_FRACTION_FILE=null; simpleUAC.exactCallsLog = null; UG_engine_simple_genotyper = new UnifiedGenotyperEngine(getToolkit(), simpleUAC, logger, null, null, samples, GATKVariantContextUtils.DEFAULT_PLOIDY); + // Currently, per-sample contamination level is only implemented for UG + if( UAC.CONTAMINATION_FRACTION_FILE !=null) { + throw new UserException("Per-Sample contamination level not supported in Haplotype Caller at this point"); + } + + // when we do implement per-sample contamination for HC, this will probably be needed. + // UAC.setSampleContamination(AlleleBiasedDownsamplingUtils.loadContaminationFile(UAC.CONTAMINATION_FRACTION_FILE, samples, logger)); + // initialize the output VCF header annotationEngine = new VariantAnnotatorEngine(Arrays.asList(annotationClassesToUse), annotationsToUse, annotationsToExclude, this, getToolkit()); @@ -340,12 +373,12 @@ public class HaplotypeCaller extends ActiveRegionWalker implem throw new UserException.CouldNotReadInputFile(getToolkit().getArguments().referenceFile, e); } - assemblyEngine = new SimpleDeBruijnAssembler( DEBUG, graphWriter, minKmer ); + assemblyEngine = new DeBruijnAssembler( DEBUG, graphWriter, minKmer ); likelihoodCalculationEngine = new LikelihoodCalculationEngine( (byte)gcpHMM, DEBUG, pairHMM ); genotypingEngine = new GenotypingEngine( DEBUG, annotationEngine, USE_FILTERED_READ_MAP_FOR_ANNOTATIONS ); if ( bamWriter != null ) - setupBamWriter(); + haplotypeBAMWriter = HaplotypeBAMWriter.create(bamWriterType, bamWriter, getToolkit().getSAMFileHeader()); } //--------------------------------------------------------------------------------------------------------------- @@ -465,17 +498,15 @@ public class HaplotypeCaller extends ActiveRegionWalker implem if( activeRegion.size() == 0 && UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ) { return 0; } // No reads here so nothing to do! if( UG_engine.getUAC().GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES && activeAllelesToGenotype.isEmpty() ) { return 0; } // No alleles found in this region so nothing to do! - finalizeActiveRegion( activeRegion ); // merge overlapping fragments, clip adapter and low qual tails - - // note this operation must be performed before we clip the reads down, as this must correspond to the full reference region - final GenomeLoc fullSpanBeforeClipping = getPaddedLoc(activeRegion); + finalizeActiveRegion(activeRegion); // merge overlapping fragments, clip adapter and low qual tails final Haplotype referenceHaplotype = new Haplotype(activeRegion.getActiveRegionReference(referenceReader), true); // Create the reference haplotype which is the bases from the reference that make up the active region - final byte[] fullReferenceWithPadding = activeRegion.getFullReference(referenceReader, REFERENCE_PADDING); - final List haplotypes = assemblyEngine.runLocalAssembly( activeRegion, referenceHaplotype, fullReferenceWithPadding, fullSpanBeforeClipping, MIN_PRUNE_FACTOR, activeAllelesToGenotype ); + final byte[] fullReferenceWithPadding = activeRegion.getActiveRegionReference(referenceReader, REFERENCE_PADDING); + final GenomeLoc paddedReferenceLoc = getPaddedLoc(activeRegion); + + final List haplotypes = assemblyEngine.runLocalAssembly( activeRegion, referenceHaplotype, fullReferenceWithPadding, paddedReferenceLoc, MIN_PRUNE_FACTOR, activeAllelesToGenotype ); if( haplotypes.size() == 1 ) { return 1; } // only the reference haplotype remains so nothing else to do! - activeRegion.hardClipToActiveRegion(); // only evaluate the parts of reads that are overlapping the active region final List filteredReads = filterNonPassingReads( activeRegion ); // filter out reads from genotyping which fail mapping quality based criteria if( activeRegion.size() == 0 ) { return 1; } // no reads remain after filtering so nothing else to do! @@ -490,38 +521,25 @@ public class HaplotypeCaller extends ActiveRegionWalker implem final List bestHaplotypes = ( UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ? likelihoodCalculationEngine.selectBestHaplotypes( haplotypes, stratifiedReadMap, maxNumHaplotypesInPopulation ) : haplotypes ); - for( final VariantContext call : genotypingEngine.assignGenotypeLikelihoods( UG_engine, - bestHaplotypes, - samplesList, - stratifiedReadMap, - perSampleFilteredReadList, - fullReferenceWithPadding, - fullSpanBeforeClipping, - activeRegion.getLocation(), - getToolkit().getGenomeLocParser(), - activeAllelesToGenotype ) ) { - annotationEngine.annotateDBs(metaDataTracker, getToolkit().getGenomeLocParser().createGenomeLoc(call), call); + final GenotypingEngine.CalledHaplotypes calledHaplotypes = genotypingEngine.assignGenotypeLikelihoods( UG_engine, + bestHaplotypes, + samplesList, + stratifiedReadMap, + perSampleFilteredReadList, + fullReferenceWithPadding, + paddedReferenceLoc, + activeRegion.getLocation(), + getToolkit().getGenomeLocParser(), + activeAllelesToGenotype ); + + for( final VariantContext call : calledHaplotypes.getCalls() ) { + // TODO -- uncomment this line once ART-based walkers have a proper RefMetaDataTracker. + // annotationEngine.annotateDBs(metaDataTracker, getToolkit().getGenomeLocParser().createGenomeLoc(call), call); vcfWriter.add( call ); } if ( bamWriter != null ) { - // write the haplotypes to the bam - for ( Haplotype haplotype : haplotypes ) - writeHaplotype(haplotype, fullSpanBeforeClipping, bestHaplotypes.contains(haplotype)); - - // we need to remap the Alleles back to the Haplotypes; inefficient but unfortunately this is a requirement currently - final Map alleleToHaplotypeMap = new HashMap(haplotypes.size()); - for ( final Haplotype haplotype : haplotypes ) - alleleToHaplotypeMap.put(Allele.create(haplotype.getBases()), haplotype); - - // next, output the interesting reads for each sample aligned against the appropriate haplotype - for ( final PerReadAlleleLikelihoodMap readAlleleLikelihoodMap : stratifiedReadMap.values() ) { - for ( Map.Entry> entry : readAlleleLikelihoodMap.getLikelihoodReadMap().entrySet() ) { - final Allele bestAllele = PerReadAlleleLikelihoodMap.getMostLikelyAllele(entry.getValue()); - if ( bestAllele != Allele.NO_CALL ) - writeReadAgainstHaplotype(entry.getKey(), alleleToHaplotypeMap.get(bestAllele), fullSpanBeforeClipping.getStart()); - } - } + haplotypeBAMWriter.writeReadsAlignedToHaplotypes(haplotypes, paddedReferenceLoc, bestHaplotypes, calledHaplotypes.getCalledHaplotypes(), stratifiedReadMap); } if( DEBUG ) { System.out.println("----------------------------------------------------------------------------------"); } @@ -573,7 +591,8 @@ public class HaplotypeCaller extends ActiveRegionWalker implem for( final GATKSAMRecord myRead : finalizedReadList ) { final GATKSAMRecord postAdapterRead = ( myRead.getReadUnmappedFlag() ? myRead : ReadClipper.hardClipAdaptorSequence( myRead ) ); if( postAdapterRead != null && !postAdapterRead.isEmpty() && postAdapterRead.getCigar().getReadLength() > 0 ) { - final GATKSAMRecord clippedRead = ReadClipper.hardClipLowQualEnds( postAdapterRead, MIN_TAIL_QUALITY ); + GATKSAMRecord clippedRead = ReadClipper.hardClipLowQualEnds( postAdapterRead, MIN_TAIL_QUALITY ); + clippedRead = ReadClipper.hardClipToRegion( clippedRead, activeRegion.getExtendedLoc().getStart(), activeRegion.getExtendedLoc().getStop() ); if( activeRegion.readOverlapsRegion(clippedRead) && clippedRead.getReadLength() > 0 ) { readsToUse.add(clippedRead); } @@ -594,9 +613,9 @@ public class HaplotypeCaller extends ActiveRegionWalker implem } private GenomeLoc getPaddedLoc( final org.broadinstitute.sting.utils.activeregion.ActiveRegion activeRegion ) { - final int padLeft = Math.max(activeRegion.getReadSpanLoc().getStart()-REFERENCE_PADDING, 1); - final int padRight = Math.min(activeRegion.getReadSpanLoc().getStop()+REFERENCE_PADDING, referenceReader.getSequenceDictionary().getSequence(activeRegion.getReadSpanLoc().getContig()).getSequenceLength()); - return getToolkit().getGenomeLocParser().createGenomeLoc(activeRegion.getReadSpanLoc().getContig(), padLeft, padRight); + final int padLeft = Math.max(activeRegion.getExtendedLoc().getStart()-REFERENCE_PADDING, 1); + final int padRight = Math.min(activeRegion.getExtendedLoc().getStop()+REFERENCE_PADDING, referenceReader.getSequenceDictionary().getSequence(activeRegion.getExtendedLoc().getContig()).getSequenceLength()); + return getToolkit().getGenomeLocParser().createGenomeLoc(activeRegion.getExtendedLoc().getContig(), padLeft, padRight); } private Map> splitReadsBySample( final List reads ) { @@ -615,92 +634,5 @@ public class HaplotypeCaller extends ActiveRegionWalker implem return returnMap; } - private void setupBamWriter() { - // prepare the bam header - bamHeader = new SAMFileHeader(); - bamHeader.setSequenceDictionary(getToolkit().getSAMFileHeader().getSequenceDictionary()); - bamHeader.setSortOrder(SAMFileHeader.SortOrder.coordinate); - // include the original read groups plus a new artificial one for the haplotypes - final List readGroups = new ArrayList(getToolkit().getSAMFileHeader().getReadGroups()); - final SAMReadGroupRecord rg = new SAMReadGroupRecord(readGroupId); - rg.setSample("HC"); - rg.setSequencingCenter("BI"); - readGroups.add(rg); - bamHeader.setReadGroups(readGroups); - - bamWriter.setPresorted(false); - bamWriter.writeHeader(bamHeader); - } - - private void writeHaplotype(final Haplotype haplotype, final GenomeLoc paddedRefLoc, final boolean isAmongBestHaplotypes) { - final GATKSAMRecord record = new GATKSAMRecord(bamHeader); - record.setReadBases(haplotype.getBases()); - record.setAlignmentStart(paddedRefLoc.getStart() + haplotype.getAlignmentStartHapwrtRef()); - record.setBaseQualities(Utils.dupBytes((byte) '!', haplotype.getBases().length)); - record.setCigar(haplotype.getCigar()); - record.setMappingQuality(isAmongBestHaplotypes ? 60 : 0); - record.setReadName("HC" + uniqueNameCounter++); - record.setReadUnmappedFlag(false); - record.setReferenceIndex(paddedRefLoc.getContigIndex()); - record.setAttribute(SAMTag.RG.toString(), readGroupId); - record.setFlags(16); - bamWriter.addAlignment(record); - } - - private void writeReadAgainstHaplotype(final GATKSAMRecord read, final Haplotype haplotype, final int referenceStart) { - - final SWPairwiseAlignment swPairwiseAlignment = new SWPairwiseAlignment(haplotype.getBases(), read.getReadBases(), 5.0, -10.0, -22.0, -1.2); - final int readStartOnHaplotype = swPairwiseAlignment.getAlignmentStart2wrt1(); - final int readStartOnReference = referenceStart + haplotype.getAlignmentStartHapwrtRef() + readStartOnHaplotype; - read.setAlignmentStart(readStartOnReference); - - final Cigar cigar = generateReadCigarFromHaplotype(read, readStartOnHaplotype, haplotype.getCigar()); - read.setCigar(cigar); - - bamWriter.addAlignment(read); - } - - private Cigar generateReadCigarFromHaplotype(final GATKSAMRecord read, final int readStartOnHaplotype, final Cigar haplotypeCigar) { - - int currentReadPos = 0; - int currentHapPos = 0; - final List readCigarElements = new ArrayList(); - - for ( final CigarElement cigarElement : haplotypeCigar.getCigarElements() ) { - - if ( cigarElement.getOperator() == CigarOperator.D ) { - if ( currentReadPos > 0 ) - readCigarElements.add(cigarElement); - } else if ( cigarElement.getOperator() == CigarOperator.M || cigarElement.getOperator() == CigarOperator.I ) { - - final int elementLength = cigarElement.getLength(); - final int nextReadPos = currentReadPos + elementLength; - final int nextHapPos = currentHapPos + elementLength; - - // do we want this element? - if ( currentReadPos > 0 ) { - // do we want the entire element? - if ( nextReadPos < read.getReadLength() ) { - readCigarElements.add(cigarElement); - currentReadPos = nextReadPos; - } - // otherwise, we can finish up and return the cigar - else { - readCigarElements.add(new CigarElement(read.getReadLength() - currentReadPos, cigarElement.getOperator())); - return new Cigar(readCigarElements); - } - } - // do we want part of the element to start? - else if ( currentReadPos == 0 && nextHapPos > readStartOnHaplotype ) { - currentReadPos = Math.min(nextHapPos - readStartOnHaplotype, read.getReadLength()); - readCigarElements.add(new CigarElement(currentReadPos, cigarElement.getOperator())); - } - - currentHapPos = nextHapPos; - } - } - - return new Cigar(readCigarElements); - } } \ No newline at end of file diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java index 73b8f8524..c7cc84b9c 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java @@ -60,6 +60,7 @@ import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.variant.vcf.VCFHeaderLine; import org.broadinstitute.variant.vcf.VCFHeaderLineType; @@ -104,7 +105,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-HaplotypeResolver.ACTIVE_WINDOW,stop= HaplotypeResolver.ACTIVE_WINDOW)) public class HaplotypeResolver extends RodWalker { diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java index 49e926e32..90c2e6a2a 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java @@ -52,10 +52,13 @@ import net.sf.samtools.Cigar; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; import org.apache.commons.lang.ArrayUtils; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.SWPairwiseAlignment; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.sam.AlignmentUtils; -import org.jgrapht.graph.DefaultDirectedGraph; +import org.broadinstitute.variant.variantcontext.Allele; +import org.broadinstitute.variant.variantcontext.VariantContext; import java.io.Serializable; import java.util.*; @@ -88,15 +91,17 @@ public class KBestPaths { private final int totalScore; // the graph from which this path originated - private final DefaultDirectedGraph graph; + private final DeBruijnAssemblyGraph graph; // used in the bubble state machine to apply Smith-Waterman to the bubble sequence - private final double SW_MATCH = 15.0; - private final double SW_MISMATCH = -15.0; - private final double SW_GAP = -25.0; - private final double SW_GAP_EXTEND = -1.2; + // these values were chosen via optimization against the NA12878 knowledge base + private static final double SW_MATCH = 20.0; + private static final double SW_MISMATCH = -15.0; + private static final double SW_GAP = -26.0; + private static final double SW_GAP_EXTEND = -1.1; + private static final byte[] STARTING_SW_ANCHOR_BYTES = "XXXXXXXXX".getBytes(); - public Path( final DeBruijnVertex initialVertex, final DefaultDirectedGraph graph ) { + public Path( final DeBruijnVertex initialVertex, final DeBruijnAssemblyGraph graph ) { lastVertex = initialVertex; edges = new ArrayList(0); totalScore = 0; @@ -119,6 +124,8 @@ public class KBestPaths { * @return true if the edge is found in this path */ public boolean containsEdge( final DeBruijnEdge edge ) { + if( edge == null ) { throw new IllegalArgumentException("Attempting to test null edge."); } + for( final DeBruijnEdge e : edges ) { if( e.equals(graph, edge) ) { return true; @@ -128,7 +135,14 @@ public class KBestPaths { return false; } - public int numInPath( final DefaultDirectedGraph graph, final DeBruijnEdge edge ) { + /** + * Calculate the number of times this edge appears in the path + * @param edge the given edge to test + * @return number of times this edge appears in the path + */ + public int numInPath( final DeBruijnEdge edge ) { + if( edge == null ) { throw new IllegalArgumentException("Attempting to test null edge."); } + int numInPath = 0; for( final DeBruijnEdge e : edges ) { if( e.equals(graph, edge) ) { @@ -139,13 +153,17 @@ public class KBestPaths { return numInPath; } - + /** + * Does this path contain a reference edge? + * @return true if the path contains a reference edge + */ public boolean containsRefEdge() { for( final DeBruijnEdge e : edges ) { if( e.isRef() ) { return true; } } return false; } + public List getEdges() { return edges; } public int getScore() { return totalScore; } @@ -153,41 +171,31 @@ public class KBestPaths { public DeBruijnVertex getLastVertexInPath() { return lastVertex; } /** - * The base sequence for this path. Pull the full sequence for the source of the path and then the suffix for all subsequent nodes + * The base sequence for this path. Pull the full sequence for source nodes and then the suffix for all subsequent nodes * @return non-null sequence of bases corresponding to this path */ @Ensures({"result != null"}) public byte[] getBases() { - if( edges.size() == 0 ) { return lastVertex.getSequence(); } + if( edges.size() == 0 ) { return graph.getAdditionalSequence(lastVertex); } - byte[] bases = graph.getEdgeSource( edges.get(0) ).getSequence(); + byte[] bases = graph.getAdditionalSequence(graph.getEdgeSource(edges.get(0))); for( final DeBruijnEdge e : edges ) { - bases = ArrayUtils.addAll(bases, graph.getEdgeTarget( e ).getSuffix()); + bases = ArrayUtils.addAll(bases, graph.getAdditionalSequence(graph.getEdgeTarget(e))); } return bases; } - /** - * Pull the added base sequence implied by visiting this node in a path - * @param graph the graph from which the vertex originated - * @param v the vertex whose sequence to grab - * @return non-null sequence of bases corresponding to this node in the graph - */ - @Ensures({"result != null"}) - public byte[] getAdditionalSequence( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - return ( edges.size()==0 || graph.getEdgeSource(edges.get(0)).equals(v) ? v.getSequence() : v.getSuffix() ); - } - /** * Calculate the cigar string for this path using a bubble traversal of the assembly graph and running a Smith-Waterman alignment on each bubble + * @return non-null Cigar string with reference length equal to the refHaplotype's reference length */ @Ensures("result != null") public Cigar calculateCigar() { final Cigar cigar = new Cigar(); // special case for paths that start on reference but not at the reference source node - if( edges.get(0).isRef() && !isRefSource(graph, edges.get(0)) ) { - for( final CigarElement ce : calculateCigarForCompleteBubble(graph, null, null, graph.getEdgeSource(edges.get(0))).getCigarElements() ) { + if( edges.get(0).isRef() && !graph.isRefSource(edges.get(0)) ) { + for( final CigarElement ce : calculateCigarForCompleteBubble(null, null, graph.getEdgeSource(edges.get(0))).getCigarElements() ) { cigar.add(ce); } } @@ -197,18 +205,18 @@ public class KBestPaths { for( final DeBruijnEdge e : edges ) { if( e.equals(graph, edges.get(0)) ) { - advanceBubbleStateMachine( bsm, graph, graph.getEdgeSource(e), null ); + advanceBubbleStateMachine( bsm, graph.getEdgeSource(e), null ); } - advanceBubbleStateMachine( bsm, graph, graph.getEdgeTarget(e), e ); + advanceBubbleStateMachine( bsm, graph.getEdgeTarget(e), e ); } // special case for paths that don't end on reference if( bsm.inBubble ) { - for( final CigarElement ce : calculateCigarForCompleteBubble(graph, bsm.bubbleBytes, bsm.lastSeenReferenceNode, null).getCigarElements() ) { + for( final CigarElement ce : calculateCigarForCompleteBubble(bsm.bubbleBytes, bsm.lastSeenReferenceNode, null).getCigarElements() ) { bsm.cigar.add(ce); } - } else if( edges.get(edges.size()-1).isRef() && !isRefSink(graph, edges.get(edges.size()-1)) ) { // special case for paths that end of the reference but haven't completed the entire reference circuit - for( final CigarElement ce : calculateCigarForCompleteBubble(graph, bsm.bubbleBytes, graph.getEdgeTarget(edges.get(edges.size()-1)), null).getCigarElements() ) { + } else if( edges.get(edges.size()-1).isRef() && !graph.isRefSink(edges.get(edges.size()-1)) ) { // special case for paths that end of the reference but haven't completed the entire reference circuit + for( final CigarElement ce : calculateCigarForCompleteBubble(bsm.bubbleBytes, graph.getEdgeTarget(edges.get(edges.size()-1)), null).getCigarElements() ) { bsm.cigar.add(ce); } } @@ -216,59 +224,72 @@ public class KBestPaths { return AlignmentUtils.consolidateCigar(bsm.cigar); } + /** + * Advance the bubble state machine by incorporating the next node in the path. + * @param bsm the current bubble state machine + * @param node the node to be incorporated + * @param e the edge which generated this node in the path + */ @Requires({"bsm != null", "graph != null", "node != null"}) - private void advanceBubbleStateMachine( final BubbleStateMachine bsm, final DefaultDirectedGraph graph, final DeBruijnVertex node, final DeBruijnEdge e ) { - if( isReferenceNode( graph, node ) ) { + private void advanceBubbleStateMachine( final BubbleStateMachine bsm, final DeBruijnVertex node, final DeBruijnEdge e ) { + if( graph.isReferenceNode( node ) ) { if( !bsm.inBubble ) { // just add the ref bases as M's in the Cigar string, and don't do anything else if( e !=null && !e.isRef() ) { - if( referencePathExists( graph, graph.getEdgeSource(e), node) ) { - for( final CigarElement ce : calculateCigarForCompleteBubble(graph, null, graph.getEdgeSource(e), node).getCigarElements() ) { + if( graph.referencePathExists( graph.getEdgeSource(e), node) ) { + for( final CigarElement ce : calculateCigarForCompleteBubble(null, graph.getEdgeSource(e), node).getCigarElements() ) { bsm.cigar.add(ce); } - bsm.cigar.add( new CigarElement( getAdditionalSequence(graph, node).length, CigarOperator.M) ); + bsm.cigar.add( new CigarElement( graph.getAdditionalSequence(node).length, CigarOperator.M) ); } else if ( graph.getEdgeSource(e).equals(graph.getEdgeTarget(e)) ) { // alt edge at ref node points to itself - bsm.cigar.add( new CigarElement( getAdditionalSequence(graph, node).length, CigarOperator.I) ); + bsm.cigar.add( new CigarElement( graph.getAdditionalSequence(node).length, CigarOperator.I) ); } else { bsm.inBubble = true; bsm.bubbleBytes = null; bsm.lastSeenReferenceNode = graph.getEdgeSource(e); - bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, getAdditionalSequence(graph, node) ); + bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, graph.getAdditionalSequence(node) ); } } else { - bsm.cigar.add( new CigarElement( getAdditionalSequence(graph, node).length, CigarOperator.M) ); + bsm.cigar.add( new CigarElement( graph.getAdditionalSequence(node).length, CigarOperator.M) ); } - } else if( bsm.lastSeenReferenceNode != null && !referencePathExists( graph, bsm.lastSeenReferenceNode, node ) ) { // add bases to the bubble string until we get back to the reference path - bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, getAdditionalSequence(graph, node) ); + } else if( bsm.lastSeenReferenceNode != null && !graph.referencePathExists( bsm.lastSeenReferenceNode, node ) ) { // add bases to the bubble string until we get back to the reference path + bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, graph.getAdditionalSequence(node) ); } else { // close the bubble and use a local SW to determine the Cigar string - for( final CigarElement ce : calculateCigarForCompleteBubble(graph, bsm.bubbleBytes, bsm.lastSeenReferenceNode, node).getCigarElements() ) { + for( final CigarElement ce : calculateCigarForCompleteBubble(bsm.bubbleBytes, bsm.lastSeenReferenceNode, node).getCigarElements() ) { bsm.cigar.add(ce); } bsm.inBubble = false; bsm.bubbleBytes = null; bsm.lastSeenReferenceNode = null; - bsm.cigar.add( new CigarElement( getAdditionalSequence(graph, node).length, CigarOperator.M) ); + bsm.cigar.add( new CigarElement( graph.getAdditionalSequence(node).length, CigarOperator.M) ); } } else { // non-ref vertex if( bsm.inBubble ) { // just keep accumulating until we get back to the reference path - bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, getAdditionalSequence(graph, node) ); + bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, graph.getAdditionalSequence(node) ); } else { // open up a bubble bsm.inBubble = true; bsm.bubbleBytes = null; bsm.lastSeenReferenceNode = (e != null ? graph.getEdgeSource(e) : null ); - bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, getAdditionalSequence(graph, node) ); + bsm.bubbleBytes = ArrayUtils.addAll( bsm.bubbleBytes, graph.getAdditionalSequence(node) ); } } } + /** + * Now that we have a completed bubble run a Smith-Waterman alignment to determine the cigar string for this bubble + * @param bubbleBytes the bytes that comprise the alternate allele path in this bubble + * @param fromVertex the vertex that marks the beginning of the reference path in this bubble (null indicates ref source vertex) + * @param toVertex the vertex that marks the end of the reference path in this bubble (null indicates ref sink vertex) + * @return the cigar string generated by running a SW alignment between the reference and alternate paths in this bubble + */ @Requires({"graph != null"}) - @Ensures({"result != null", "result.getReadLength() == bubbleBytes.length"}) - private Cigar calculateCigarForCompleteBubble( final DefaultDirectedGraph graph, final byte[] bubbleBytes, final DeBruijnVertex fromVertex, final DeBruijnVertex toVertex ) { - final byte[] refBytes = getReferenceBytes(this, graph, fromVertex, toVertex); + @Ensures({"result != null"}) + private Cigar calculateCigarForCompleteBubble( final byte[] bubbleBytes, final DeBruijnVertex fromVertex, final DeBruijnVertex toVertex ) { + final byte[] refBytes = graph.getReferenceBytes(fromVertex == null ? graph.getReferenceSourceVertex() : fromVertex, toVertex == null ? graph.getReferenceSinkVertex() : toVertex, fromVertex == null, toVertex == null); - final Cigar cigar = new Cigar(); + final Cigar returnCigar = new Cigar(); // add padding to anchor ref/alt bases in the SW matrix - byte[] padding = "XXXXXX".getBytes(); + byte[] padding = STARTING_SW_ANCHOR_BYTES; boolean goodAlignment = false; SWPairwiseAlignment swConsensus = null; while( !goodAlignment && padding.length < 1000 ) { @@ -280,27 +301,48 @@ public class KBestPaths { goodAlignment = true; } } - if( !goodAlignment && swConsensus != null ) { - throw new ReviewedStingException("SmithWaterman offset failure: " + (refBytes == null ? "-" : new String(refBytes)) + " against " + new String(bubbleBytes) + " = " + swConsensus.getCigar()); + if( !goodAlignment ) { + returnCigar.add(new CigarElement(1, CigarOperator.N)); + return returnCigar; } - if( swConsensus != null ) { - final Cigar swCigar = swConsensus.getCigar(); + final Cigar swCigar = swConsensus.getCigar(); + if( swCigar.numCigarElements() > 6 ) { // this bubble is too divergent from the reference + returnCigar.add(new CigarElement(1, CigarOperator.N)); + } else { + int skipElement = -1; + if( fromVertex == null ) { + for( int iii = 0; iii < swCigar.numCigarElements(); iii++ ) { + final CigarElement ce = swCigar.getCigarElement(iii); + if( ce.getOperator().equals(CigarOperator.D) ) { + skipElement = iii; + break; + } + } + } else if (toVertex == null ) { + for( int iii = swCigar.numCigarElements() - 1; iii >= 0; iii-- ) { + final CigarElement ce = swCigar.getCigarElement(iii); + if( ce.getOperator().equals(CigarOperator.D) ) { + skipElement = iii; + break; + } + } + } for( int iii = 0; iii < swCigar.numCigarElements(); iii++ ) { // now we need to remove the padding from the cigar string int length = swCigar.getCigarElement(iii).getLength(); if( iii == 0 ) { length -= padding.length; } if( iii == swCigar.numCigarElements() - 1 ) { length -= padding.length; } if( length > 0 ) { - cigar.add( new CigarElement(length, swCigar.getCigarElement(iii).getOperator()) ); + returnCigar.add(new CigarElement(length, (skipElement == iii ? CigarOperator.X : swCigar.getCigarElement(iii).getOperator()))); } } - if( (refBytes == null && cigar.getReferenceLength() != 0) || ( refBytes != null && cigar.getReferenceLength() != refBytes.length ) ) { - throw new ReviewedStingException("SmithWaterman cigar failure: " + (refBytes == null ? "-" : new String(refBytes)) + " against " + new String(bubbleBytes) + " = " + swConsensus.getCigar()); + if( (refBytes == null && returnCigar.getReferenceLength() != 0) || ( refBytes != null && returnCigar.getReferenceLength() != refBytes.length ) ) { + throw new IllegalStateException("SmithWaterman cigar failure: " + (refBytes == null ? "-" : new String(refBytes)) + " against " + new String(bubbleBytes) + " = " + swConsensus.getCigar()); } } - return cigar; + return returnCigar; } // class to keep track of the bubble state machine @@ -326,8 +368,18 @@ public class KBestPaths { } } - public static List getKBestPaths( final DefaultDirectedGraph graph, final int k ) { - if( k > MAX_PATHS_TO_HOLD/2 ) { throw new ReviewedStingException("Asked for more paths than MAX_PATHS_TO_HOLD!"); } + /** + * Traverse the graph and pull out the best k paths. + * Paths are scored via their comparator function. The default being PathComparatorTotalScore() + * @param graph the graph from which to pull paths + * @param k the number of paths to find + * @return a list with at most k top-scoring paths from the graph + */ + @Ensures({"result != null", "result.size() <= k"}) + public static List getKBestPaths( final DeBruijnAssemblyGraph graph, final int k ) { + if( graph == null ) { throw new IllegalArgumentException("Attempting to traverse a null graph."); } + if( k > MAX_PATHS_TO_HOLD/2 ) { throw new IllegalArgumentException("Asked for more paths than internal parameters allow for."); } + final ArrayList bestPaths = new ArrayList(); // run a DFS for best paths @@ -350,12 +402,14 @@ public class KBestPaths { // did we hit the end of a path? if ( allOutgoingEdgesHaveBeenVisited(path) ) { - if ( bestPaths.size() >= MAX_PATHS_TO_HOLD ) { - // clean out some low scoring paths - Collections.sort(bestPaths, new PathComparatorTotalScore() ); - for(int iii = 0; iii < 20; iii++) { bestPaths.remove(0); } // BUGBUG: assumes MAX_PATHS_TO_HOLD >> 20 + if( path.containsRefEdge() ) { + if ( bestPaths.size() >= MAX_PATHS_TO_HOLD ) { + // clean out some low scoring paths + Collections.sort(bestPaths, new PathComparatorTotalScore() ); + for(int iii = 0; iii < 20; iii++) { bestPaths.remove(0); } // BUGBUG: assumes MAX_PATHS_TO_HOLD >> 20 + } + bestPaths.add(path); } - bestPaths.add(path); } else if( n.val > 10000) { // do nothing, just return } else { @@ -376,227 +430,16 @@ public class KBestPaths { } } + /** + * @param path the path to test + * @return true if all the outgoing edges at the end of this path have already been visited + */ private static boolean allOutgoingEdgesHaveBeenVisited( final Path path ) { for( final DeBruijnEdge edge : path.graph.outgoingEdgesOf(path.lastVertex) ) { - if( !path.containsEdge(edge) ) { + if( !path.containsEdge(edge) ) { // TODO -- investigate allowing numInPath < 2 to allow cycles return false; } } return true; } - - /**************************************************************** - * Collection of graph functions used by KBestPaths * - ***************************************************************/ - - /** - * Test if the vertex is on a reference path in the graph. If so it is referred to as a reference node - * @param graph the graph from which the vertex originated - * @param v the vertex to test - * @return true if the vertex is on the reference path - */ - public static boolean isReferenceNode( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - for( final DeBruijnEdge e : graph.edgesOf(v) ) { - if( e.isRef() ) { return true; } - } - return false; - } - - /** - * Is this edge a source edge (the source vertex of the edge is a source node in the graph) - * @param graph the graph from which the edge originated - * @param e the edge to test - * @return true if the source vertex of the edge is a source node in the graph - */ - public static boolean isSource( final DefaultDirectedGraph graph, final DeBruijnEdge e ) { - return graph.inDegreeOf(graph.getEdgeSource(e)) == 0; - } - - /** - * Is this vertex a source vertex - * @param graph the graph from which the vertex originated - * @param v the vertex to test - * @return true if the vertex is a source vertex - */ - public static boolean isSource( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - return graph.inDegreeOf(v) == 0; - } - - /** - * Is this edge both a reference edge and a source edge for the reference path - * @param graph the graph from which the edge originated - * @param e the edge to test - * @return true if the edge is both a reference edge and a reference path source edge - */ - public static boolean isRefSource( final DefaultDirectedGraph graph, final DeBruijnEdge e ) { - for( final DeBruijnEdge edgeToTest : graph.incomingEdgesOf(graph.getEdgeSource(e)) ) { - if( edgeToTest.isRef() ) { return false; } - } - return true; - } - - /** - * Is this vertex both a reference node and a source node for the reference path - * @param graph the graph from which the vertex originated - * @param v the vertex to test - * @return true if the vertex is both a reference node and a reference path source node - */ - public static boolean isRefSource( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - for( final DeBruijnEdge edgeToTest : graph.incomingEdgesOf(v) ) { - if( edgeToTest.isRef() ) { return false; } - } - return true; - } - - /** - * Is this edge both a reference edge and a sink edge for the reference path - * @param graph the graph from which the edge originated - * @param e the edge to test - * @return true if the edge is both a reference edge and a reference path sink edge - */ - public static boolean isRefSink( final DefaultDirectedGraph graph, final DeBruijnEdge e ) { - for( final DeBruijnEdge edgeToTest : graph.outgoingEdgesOf(graph.getEdgeTarget(e)) ) { - if( edgeToTest.isRef() ) { return false; } - } - return true; - } - - /** - * Is this vertex both a reference node and a sink node for the reference path - * @param graph the graph from which the node originated - * @param v the node to test - * @return true if the vertex is both a reference node and a reference path sink node - */ - public static boolean isRefSink( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - for( final DeBruijnEdge edgeToTest : graph.outgoingEdgesOf(v) ) { - if( edgeToTest.isRef() ) { return false; } - } - return true; - } - - public static DeBruijnEdge getReferenceSourceEdge( final DefaultDirectedGraph graph ) { - for( final DeBruijnEdge e : graph.edgeSet() ) { - if( e.isRef() && isRefSource(graph, e) ) { - return e; - } - } - throw new ReviewedStingException("All reference graphs should have a source node"); - } - - public static DeBruijnVertex getReferenceSourceVertex( final DefaultDirectedGraph graph ) { - for( final DeBruijnVertex v : graph.vertexSet() ) { - if( isReferenceNode(graph, v) && isRefSource(graph, v) ) { - return v; - } - } - return null; - } - - public static DeBruijnEdge getReferenceSinkEdge( final DefaultDirectedGraph graph ) { - for( final DeBruijnEdge e : graph.edgeSet() ) { - if( e.isRef() && isRefSink(graph, e) ) { - return e; - } - } - throw new ReviewedStingException("All reference graphs should have a sink node"); - } - - public static DeBruijnVertex getReferenceSinkVertex( final DefaultDirectedGraph graph ) { - for( final DeBruijnVertex v : graph.vertexSet() ) { - if( isReferenceNode(graph, v) && isRefSink(graph, v) ) { - return v; - } - } - throw new ReviewedStingException("All reference graphs should have a sink node"); - } - - public static DeBruijnEdge getNextReferenceEdge( final DefaultDirectedGraph graph, final DeBruijnEdge e ) { - if( e == null ) { return null; } - for( final DeBruijnEdge edgeToTest : graph.outgoingEdgesOf(graph.getEdgeTarget(e)) ) { - if( edgeToTest.isRef() ) { - return edgeToTest; - } - } - return null; - } - - public static DeBruijnVertex getNextReferenceVertex( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - if( v == null ) { return null; } - for( final DeBruijnEdge edgeToTest : graph.outgoingEdgesOf(v) ) { - if( edgeToTest.isRef() ) { - return graph.getEdgeTarget(edgeToTest); - } - } - return null; - } - - public static DeBruijnEdge getPrevReferenceEdge( final DefaultDirectedGraph graph, final DeBruijnEdge e ) { - for( final DeBruijnEdge edgeToTest : graph.incomingEdgesOf(graph.getEdgeSource(e)) ) { - if( edgeToTest.isRef() ) { - return edgeToTest; - } - } - return null; - } - - public static DeBruijnVertex getPrevReferenceVertex( final DefaultDirectedGraph graph, final DeBruijnVertex v ) { - for( final DeBruijnEdge edgeToTest : graph.incomingEdgesOf(v) ) { - if( isReferenceNode(graph, graph.getEdgeSource(edgeToTest)) ) { - return graph.getEdgeSource(edgeToTest); - } - } - return null; - } - - public static boolean referencePathExists(final DefaultDirectedGraph graph, final DeBruijnEdge fromEdge, final DeBruijnEdge toEdge) { - DeBruijnEdge e = fromEdge; - if( e == null ) { - return false; - } - while( !e.equals(graph, toEdge) ) { - e = getNextReferenceEdge(graph, e); - if( e == null ) { - return false; - } - } - return true; - } - - public static boolean referencePathExists(final DefaultDirectedGraph graph, final DeBruijnVertex fromVertex, final DeBruijnVertex toVertex) { - DeBruijnVertex v = fromVertex; - if( v == null ) { - return false; - } - v = getNextReferenceVertex(graph, v); - if( v == null ) { - return false; - } - while( !v.equals(toVertex) ) { - v = getNextReferenceVertex(graph, v); - if( v == null ) { - return false; - } - } - return true; - } - - // fromVertex (exclusive) -> toVertex (exclusive) - public static byte[] getReferenceBytes( final Path path, final DefaultDirectedGraph graph, final DeBruijnVertex fromVertex, final DeBruijnVertex toVertex ) { - byte[] bytes = null; - if( fromVertex != null && toVertex != null && !referencePathExists(graph, fromVertex, toVertex) ) { - throw new ReviewedStingException("Asked for a reference path which doesn't exist. " + fromVertex + " --> " + toVertex); - } - DeBruijnVertex v = fromVertex; - if( v == null ) { - v = getReferenceSourceVertex(graph); - bytes = ArrayUtils.addAll( bytes, path.getAdditionalSequence(graph, v) ); - } - v = getNextReferenceVertex(graph, v); - while( (toVertex != null && !v.equals(toVertex)) || (toVertex == null && v != null) ) { - bytes = ArrayUtils.addAll( bytes, path.getAdditionalSequence(graph, v) ); - // advance along the reference path - v = getNextReferenceVertex(graph, v); - } - return bytes; - } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java index 655b3e529..a7d85b969 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java @@ -72,13 +72,10 @@ public class LikelihoodCalculationEngine { switch (hmmType) { case EXACT: - pairHMM = new ExactPairHMM(); + pairHMM = new Log10PairHMM(true); break; case ORIGINAL: - pairHMM = new OriginalPairHMM(); - break; - case CACHING: - pairHMM = new CachingPairHMM(); + pairHMM = new Log10PairHMM(false); break; case LOGLESS_CACHING: pairHMM = new LoglessCachingPairHMM(); @@ -112,7 +109,7 @@ public class LikelihoodCalculationEngine { Y_METRIC_LENGTH += 2; // initialize arrays to hold the probabilities of being in the match, insertion and deletion cases - pairHMM.initialize(X_METRIC_LENGTH, Y_METRIC_LENGTH); + pairHMM.initialize(Y_METRIC_LENGTH, X_METRIC_LENGTH); // for each sample's reads for( final Map.Entry> sampleEntry : perSampleReadList.entrySet() ) { @@ -128,7 +125,7 @@ public class LikelihoodCalculationEngine { final int numHaplotypes = haplotypes.size(); final Map alleleVersions = new HashMap(numHaplotypes); for ( final Haplotype haplotype : haplotypes ) { - alleleVersions.put(haplotype, Allele.create(haplotype.getBases())); + alleleVersions.put(haplotype, Allele.create(haplotype, true)); } final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = new PerReadAlleleLikelihoodMap(); @@ -136,11 +133,12 @@ public class LikelihoodCalculationEngine { final byte[] overallGCP = new byte[read.getReadLength()]; Arrays.fill( overallGCP, constantGCP ); // Is there a way to derive empirical estimates for this from the data? Haplotype previousHaplotypeSeen = null; - final byte[] readQuals = read.getBaseQualities(); + // NOTE -- must clone anything that gets modified here so we don't screw up future uses of the read + final byte[] readQuals = read.getBaseQualities().clone(); final byte[] readInsQuals = read.getBaseInsertionQualities(); final byte[] readDelQuals = read.getBaseDeletionQualities(); for( int kkk = 0; kkk < readQuals.length; kkk++ ) { - readQuals[kkk] = ( readQuals[kkk] > (byte) read.getMappingQuality() ? (byte) read.getMappingQuality() : readQuals[kkk] ); // cap base quality by mapping quality + readQuals[kkk] = (byte) Math.min( 0xff & readQuals[kkk], read.getMappingQuality()); // cap base quality by mapping quality, as in UG //readQuals[kkk] = ( readQuals[kkk] > readInsQuals[kkk] ? readInsQuals[kkk] : readQuals[kkk] ); // cap base quality by base insertion quality, needs to be evaluated //readQuals[kkk] = ( readQuals[kkk] > readDelQuals[kkk] ? readDelQuals[kkk] : readQuals[kkk] ); // cap base quality by base deletion quality, needs to be evaluated // TODO -- why is Q18 hard-coded here??? @@ -150,7 +148,7 @@ public class LikelihoodCalculationEngine { for( int jjj = 0; jjj < numHaplotypes; jjj++ ) { final Haplotype haplotype = haplotypes.get(jjj); - final int haplotypeStart = ( previousHaplotypeSeen == null ? 0 : computeFirstDifferingPosition(haplotype.getBases(), previousHaplotypeSeen.getBases()) ); + final int haplotypeStart = ( previousHaplotypeSeen == null ? 0 : PairHMM.findFirstPositionWhereHaplotypesDiffer(haplotype.getBases(), previousHaplotypeSeen.getBases()) ); previousHaplotypeSeen = haplotype; perReadAlleleLikelihoodMap.add(read, alleleVersions.get(haplotype), @@ -161,15 +159,6 @@ public class LikelihoodCalculationEngine { return perReadAlleleLikelihoodMap; } - private static int computeFirstDifferingPosition( final byte[] b1, final byte[] b2 ) { - for( int iii = 0; iii < b1.length && iii < b2.length; iii++ ) { - if( b1[iii] != b2[iii] ) { - return iii; - } - } - return Math.min(b1.length, b2.length); - } - @Requires({"alleleOrdering.size() > 0"}) @Ensures({"result.length == result[0].length", "result.length == alleleOrdering.size()"}) public static double[][] computeDiploidHaplotypeLikelihoods( final String sample, @@ -244,7 +233,7 @@ public class LikelihoodCalculationEngine { final List bestHaplotypesIndexList = new ArrayList(); bestHaplotypesIndexList.add( findReferenceIndex(haplotypes) ); // always start with the reference haplotype final List haplotypesAsAlleles = new ArrayList(); - for( final Haplotype h : haplotypes ) { haplotypesAsAlleles.add(Allele.create(h.getBases())); } + for( final Haplotype h : haplotypes ) { haplotypesAsAlleles.add(Allele.create(h, true)); } final double[][] haplotypeLikelihoodMatrix = computeDiploidHaplotypeLikelihoods( sampleKeySet, stratifiedReadMap, haplotypesAsAlleles ); // all samples pooled together diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ConstrainedMateFixingManager.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ConstrainedMateFixingManager.java index 65df6222c..5411c5d98 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ConstrainedMateFixingManager.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ConstrainedMateFixingManager.java @@ -153,6 +153,7 @@ public class ConstrainedMateFixingManager { * are assumes to not be allowed to move in the incoming read stream. */ final int maxInsertSizeForMovingReadPairs; + final int initialCapacity = 5000; final GenomeLocParser genomeLocParser; private GenomeLoc lastLocFlushed = null; @@ -161,12 +162,12 @@ public class ConstrainedMateFixingManager { /** read.name -> records */ HashMap forMateMatching = new HashMap(); - TreeSet waitingReads = new TreeSet(comparer); + PriorityQueue waitingReads = new PriorityQueue(initialCapacity, comparer); - private SAMRecord remove(TreeSet treeSet) { - final SAMRecord first = treeSet.first(); - if ( !treeSet.remove(first) ) - throw new UserException("Error caching SAM record " + first.getReadName() + ", which is usually caused by malformed SAM/BAM files in which multiple identical copies of a read are present."); + private SAMRecord remove(PriorityQueue queue) { + SAMRecord first = queue.poll(); + if (first == null) + throw new UserException("Error caching SAM record -- priority queue is empty, and yet there was an attempt to poll it -- which is usually caused by malformed SAM/BAM files in which multiple identical copies of a read are present."); return first; } @@ -243,8 +244,8 @@ public class ConstrainedMateFixingManager { // if the new read is on a different contig or we have too many reads, then we need to flush the queue and clear the map boolean tooManyReads = getNReadsInQueue() >= MAX_RECORDS_IN_MEMORY; - if ( (canFlush && tooManyReads) || (getNReadsInQueue() > 0 && !waitingReads.first().getReferenceIndex().equals(newRead.getReferenceIndex())) ) { - if ( DEBUG ) logger.warn("Flushing queue on " + (tooManyReads ? "too many reads" : ("move to new contig: " + newRead.getReferenceName() + " from " + waitingReads.first().getReferenceName())) + " at " + newRead.getAlignmentStart()); + if ( (canFlush && tooManyReads) || (getNReadsInQueue() > 0 && !waitingReads.peek().getReferenceIndex().equals(newRead.getReferenceIndex())) ) { + if ( DEBUG ) logger.warn("Flushing queue on " + (tooManyReads ? "too many reads" : ("move to new contig: " + newRead.getReferenceName() + " from " + waitingReads.peek().getReferenceName())) + " at " + newRead.getAlignmentStart()); while ( getNReadsInQueue() > 1 ) { // emit to disk @@ -307,7 +308,7 @@ public class ConstrainedMateFixingManager { if ( ++counter % EMIT_FREQUENCY == 0 ) { while ( ! waitingReads.isEmpty() ) { // there's something in the queue - SAMRecord read = waitingReads.first(); + SAMRecord read = waitingReads.peek(); if ( noReadCanMoveBefore(read.getAlignmentStart(), newRead) && (!pairedReadIsMovable(read) // we won't try to move such a read diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java index ad554a130..c7d24f475 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/IndelRealigner.java @@ -46,7 +46,6 @@ package org.broadinstitute.sting.gatk.walkers.indels; -import com.google.java.contract.Requires; import net.sf.samtools.*; import net.sf.samtools.util.RuntimeIOException; import net.sf.samtools.util.SequenceUtil; @@ -61,7 +60,10 @@ import org.broadinstitute.sting.gatk.iterators.ReadTransformer; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.BAQMode; import org.broadinstitute.sting.gatk.walkers.ReadWalker; -import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.baq.BAQ; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -69,13 +71,13 @@ import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.NWaySAMFileWriter; import org.broadinstitute.sting.utils.sam.ReadUtils; import org.broadinstitute.sting.utils.text.TextFormattingUtils; import org.broadinstitute.sting.utils.text.XReadLines; -import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.variant.variantcontext.VariantContext; import java.io.File; @@ -133,7 +135,7 @@ import java.util.*; * * @author ebanks */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) @BAQMode(QualityMode = BAQ.QualityMode.ADD_TAG, ApplicationTime = ReadTransformer.ApplicationTime.ON_OUTPUT) public class IndelRealigner extends ReadWalker { @@ -308,7 +310,7 @@ public class IndelRealigner extends ReadWalker { private boolean sawReadInCurrentInterval = false; // the reads and known indels that fall into the current interval - private final ReadBin readsToClean = new ReadBin(); + private ReadBin readsToClean; private final ArrayList readsNotToClean = new ArrayList(); private final ArrayList knownIndelsToTry = new ArrayList(); private final HashSet indelRodsSeen = new HashSet(); @@ -371,6 +373,7 @@ public class IndelRealigner extends ReadWalker { } public void initialize() { + readsToClean = new ReadBin(getToolkit().getGenomeLocParser(), REFERENCE_PADDING); if ( N_WAY_OUT == null && writer == null ) { throw new UserException.CommandLineException("Either -o or -nWayOut must be specified"); @@ -468,12 +471,14 @@ public class IndelRealigner extends ReadWalker { try { final String version = headerInfo.getString("org.broadinstitute.sting.gatk.version"); programRecord.setProgramVersion(version); - } catch (MissingResourceException e) {} + } catch (MissingResourceException e) { + // this is left empty on purpose (perhaps Andrey knows why?) + } programRecord.setCommandLine(getToolkit().createApproximateCommandLineArgumentString(getToolkit(), this)); return programRecord; } - private void emit(final SAMRecord read) { + private void emit(final GATKSAMRecord read) { // check to see whether the read was modified by looking at the temporary tag boolean wasModified = readsActuallyCleaned.contains(read); @@ -529,7 +534,7 @@ public class IndelRealigner extends ReadWalker { readsToClean.add(read); // add the rods to the list of known variants - populateKnownIndels(metaDataTracker, ref); + populateKnownIndels(metaDataTracker); } if ( readsToClean.size() + readsNotToClean.size() >= MAX_READS ) { @@ -538,6 +543,7 @@ public class IndelRealigner extends ReadWalker { } } else { // the read is past the current interval + logger.debug(currentInterval.toString() + "\t" + read.getAlignmentStart() ); cleanAndCallMap(ref, read, metaDataTracker, readLoc); } @@ -641,7 +647,7 @@ public class IndelRealigner extends ReadWalker { } } - private void populateKnownIndels(RefMetaDataTracker metaDataTracker, ReferenceContext ref) { + private void populateKnownIndels(RefMetaDataTracker metaDataTracker) { for ( final VariantContext vc : metaDataTracker.getValues(known) ) { if ( indelRodsSeen.contains(vc) ) continue; @@ -704,10 +710,8 @@ public class IndelRealigner extends ReadWalker { // if ( debugOn ) System.out.println("------\nChecking consenses...\n--------\n"); Consensus bestConsensus = null; - Iterator iter = altConsenses.iterator(); - while ( iter.hasNext() ) { - Consensus consensus = iter.next(); + for (Consensus consensus : altConsenses) { //logger.debug("Trying new consensus: " + consensus.cigar + " " + new String(consensus.str)); // if ( DEBUG ) { @@ -722,34 +726,34 @@ public class IndelRealigner extends ReadWalker { // if ( debugOn ) System.out.println("Consensus: "+consensus.str); - for ( int j = 0; j < altReads.size(); j++ ) { + for (int j = 0; j < altReads.size(); j++) { AlignedRead toTest = altReads.get(j); Pair altAlignment = findBestOffset(consensus.str, toTest, leftmostIndex); // the mismatch score is the min of its alignment vs. the reference and vs. the alternate int myScore = altAlignment.second; - if ( myScore > toTest.getAlignerMismatchScore() || myScore >= toTest.getMismatchScoreToReference() ) + if (myScore > toTest.getAlignerMismatchScore() || myScore >= toTest.getMismatchScoreToReference()) myScore = toTest.getMismatchScoreToReference(); - // keep track of reads that align better to the alternate consensus. - // By pushing alignments with equal scores to the alternate, it means we'll over-call (het -> hom non ref) but are less likely to under-call (het -> ref, het non ref -> het) + // keep track of reads that align better to the alternate consensus. + // By pushing alignments with equal scores to the alternate, it means we'll over-call (het -> hom non ref) but are less likely to under-call (het -> ref, het non ref -> het) else consensus.readIndexes.add(new Pair(j, altAlignment.first)); //logger.debug(consensus.cigar + " vs. " + toTest.getRead().getReadName() + "-" + toTest.getRead().getReadString() + " => " + myScore + " vs. " + toTest.getMismatchScoreToReference()); - if ( !toTest.getRead().getDuplicateReadFlag() ) + if (!toTest.getRead().getDuplicateReadFlag()) consensus.mismatchSum += myScore; // optimization: once the mismatch sum is higher than the best consensus, quit since this one can't win // THIS MUST BE DISABLED IF WE DECIDE TO ALLOW MORE THAN ONE ALTERNATE CONSENSUS! - if ( bestConsensus != null && consensus.mismatchSum > bestConsensus.mismatchSum ) + if (bestConsensus != null && consensus.mismatchSum > bestConsensus.mismatchSum) break; } //logger.debug("Mismatch sum of new consensus: " + consensus.mismatchSum); - if ( bestConsensus == null || bestConsensus.mismatchSum > consensus.mismatchSum) { + if (bestConsensus == null || bestConsensus.mismatchSum > consensus.mismatchSum) { // we do not need this alt consensus, release memory right away!! - if ( bestConsensus != null ) + if (bestConsensus != null) bestConsensus.readIndexes.clear(); bestConsensus = consensus; //logger.debug("New consensus " + bestConsensus.cigar + " is now best consensus"); @@ -767,7 +771,7 @@ public class IndelRealigner extends ReadWalker { final double improvement = (bestConsensus == null ? -1 : ((double)(totalRawMismatchSum - bestConsensus.mismatchSum))/10.0); if ( improvement >= LOD_THRESHOLD ) { - bestConsensus.cigar = AlignmentUtils.leftAlignIndel(bestConsensus.cigar, reference, bestConsensus.str, bestConsensus.positionOnReference, bestConsensus.positionOnReference); + bestConsensus.cigar = AlignmentUtils.leftAlignIndel(bestConsensus.cigar, reference, bestConsensus.str, bestConsensus.positionOnReference, bestConsensus.positionOnReference, true); // start cleaning the appropriate reads for ( Pair indexPair : bestConsensus.readIndexes ) { @@ -795,9 +799,9 @@ public class IndelRealigner extends ReadWalker { StringBuilder str = new StringBuilder(); str.append(reads.get(0).getReferenceName()); int position = bestConsensus.positionOnReference + bestConsensus.cigar.getCigarElement(0).getLength(); - str.append("\t" + (leftmostIndex + position - 1)); + str.append("\t").append(leftmostIndex + position - 1); CigarElement ce = bestConsensus.cigar.getCigarElement(1); - str.append("\t" + ce.getLength() + "\t" + ce.getOperator() + "\t"); + str.append("\t").append(ce.getLength()).append("\t").append(ce.getOperator()).append("\t"); int length = ce.getLength(); if ( ce.getOperator() == CigarOperator.D ) { for ( int i = 0; i < length; i++) @@ -806,7 +810,7 @@ public class IndelRealigner extends ReadWalker { for ( int i = 0; i < length; i++) str.append((char)bestConsensus.str[position+i]); } - str.append("\t" + (((double)(totalRawMismatchSum - bestConsensus.mismatchSum))/10.0) + "\n"); + str.append("\t").append((((double) (totalRawMismatchSum - bestConsensus.mismatchSum)) / 10.0)).append("\n"); try { indelOutput.write(str.toString()); indelOutput.flush(); @@ -912,7 +916,6 @@ public class IndelRealigner extends ReadWalker { final byte[] reference) { long totalRawMismatchSum = 0L; - for ( final GATKSAMRecord read : reads ) { // we can not deal with screwy records @@ -926,7 +929,7 @@ public class IndelRealigner extends ReadWalker { // first, move existing indels (for 1 indel reads only) to leftmost position within identical sequence int numBlocks = AlignmentUtils.getNumAlignmentBlocks(read); if ( numBlocks == 2 ) { - Cigar newCigar = AlignmentUtils.leftAlignIndel(unclipCigar(read.getCigar()), reference, read.getReadBases(), read.getAlignmentStart()-leftmostIndex, 0); + Cigar newCigar = AlignmentUtils.leftAlignIndel(unclipCigar(read.getCigar()), reference, read.getReadBases(), read.getAlignmentStart()-leftmostIndex, 0, true); aRead.setCigar(newCigar, false); } @@ -1277,23 +1280,22 @@ public class IndelRealigner extends ReadWalker { for ( int i=0; i < reference.length; i++ ) originalMismatchBases[i] = totalOriginalBases[i] = cleanedMismatchBases[i] = totalCleanedBases[i] = 0; - for (int i=0; i < reads.size(); i++) { - final AlignedRead read = reads.get(i); - if ( read.getRead().getAlignmentBlocks().size() > 1 ) - continue; + for (final AlignedRead read : reads) { + if (read.getRead().getAlignmentBlocks().size() > 1) + continue; int refIdx = read.getOriginalAlignmentStart() - leftmostIndex; final byte[] readStr = read.getReadBases(); final byte[] quals = read.getBaseQualities(); - for (int j=0; j < readStr.length; j++, refIdx++ ) { - if ( refIdx < 0 || refIdx >= reference.length ) { + for (int j = 0; j < readStr.length; j++, refIdx++) { + if (refIdx < 0 || refIdx >= reference.length) { //System.out.println( "Read: "+read.getRead().getReadName() + "; length = " + readStr.length() ); //System.out.println( "Ref left: "+ leftmostIndex +"; ref length=" + reference.length() + "; read alignment start: "+read.getOriginalAlignmentStart() ); break; } totalOriginalBases[refIdx] += quals[j]; - if ( readStr[j] != reference[refIdx] ) + if (readStr[j] != reference[refIdx]) originalMismatchBases[refIdx] += quals[j]; } @@ -1301,18 +1303,18 @@ public class IndelRealigner extends ReadWalker { refIdx = read.getAlignmentStart() - leftmostIndex; int altIdx = 0; Cigar c = read.getCigar(); - for (int j = 0 ; j < c.numCigarElements() ; j++) { + for (int j = 0; j < c.numCigarElements(); j++) { CigarElement ce = c.getCigarElement(j); int elementLength = ce.getLength(); - switch ( ce.getOperator() ) { + switch (ce.getOperator()) { case M: case EQ: case X: - for (int k = 0 ; k < elementLength ; k++, refIdx++, altIdx++ ) { - if ( refIdx >= reference.length ) + for (int k = 0; k < elementLength; k++, refIdx++, altIdx++) { + if (refIdx >= reference.length) break; totalCleanedBases[refIdx] += quals[altIdx]; - if ( readStr[altIdx] != reference[refIdx] ) + if (readStr[altIdx] != reference[refIdx]) cleanedMismatchBases[refIdx] += quals[altIdx]; } break; @@ -1347,8 +1349,7 @@ public class IndelRealigner extends ReadWalker { } if ( snpsOutput != null ) { if ( didMismatch ) { - sb.append(reads.get(0).getRead().getReferenceName() + ":"); - sb.append((leftmostIndex + i)); + sb.append(reads.get(0).getRead().getReferenceName()).append(":").append(leftmostIndex + i); if ( stillMismatches ) sb.append(" SAME_SNP\n"); else @@ -1602,52 +1603,4 @@ public class IndelRealigner extends ReadWalker { } } - private class ReadBin implements HasGenomeLocation { - - private final ArrayList reads = new ArrayList(); - private byte[] reference = null; - private GenomeLoc loc = null; - - public ReadBin() { } - - // Return false if we can't process this read bin because the reads are not correctly overlapping. - // This can happen if e.g. there's a large known indel with no overlapping reads. - public void add(GATKSAMRecord read) { - - GenomeLoc locForRead = getToolkit().getGenomeLocParser().createGenomeLoc(read); - if ( loc == null ) - loc = locForRead; - else if ( locForRead.getStop() > loc.getStop() ) - loc = getToolkit().getGenomeLocParser().createGenomeLoc(loc.getContig(), loc.getStart(), locForRead.getStop()); - - reads.add(read); - } - - public List getReads() { return reads; } - - @Requires("referenceReader.isUppercasingBases()") - public byte[] getReference(CachingIndexedFastaSequenceFile referenceReader) { - // set up the reference if we haven't done so yet - if ( reference == null ) { - // first, pad the reference to handle deletions in narrow windows (e.g. those with only 1 read) - int padLeft = Math.max(loc.getStart()-REFERENCE_PADDING, 1); - int padRight = Math.min(loc.getStop()+REFERENCE_PADDING, referenceReader.getSequenceDictionary().getSequence(loc.getContig()).getSequenceLength()); - loc = getToolkit().getGenomeLocParser().createGenomeLoc(loc.getContig(), padLeft, padRight); - reference = referenceReader.getSubsequenceAt(loc.getContig(), loc.getStart(), loc.getStop()).getBases(); - } - - return reference; - } - - public GenomeLoc getLocation() { return loc; } - - public int size() { return reads.size(); } - - public void clear() { - reads.clear(); - reference = null; - loc = null; - } - - } } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/LeftAlignIndels.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/LeftAlignIndels.java index 796b04923..ff21893f1 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/LeftAlignIndels.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/LeftAlignIndels.java @@ -55,6 +55,7 @@ import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -87,7 +88,7 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * * */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) public class LeftAlignIndels extends ReadWalker { @Output(required=false, doc="Output bam") @@ -110,7 +111,7 @@ public class LeftAlignIndels extends ReadWalker { // move existing indels (for 1 indel reads only) to leftmost position within identical sequence int numBlocks = AlignmentUtils.getNumAlignmentBlocks(read); if ( numBlocks == 2 ) { - Cigar newCigar = AlignmentUtils.leftAlignIndel(IndelRealigner.unclipCigar(read.getCigar()), ref.getBases(), read.getReadBases(), 0, 0); + Cigar newCigar = AlignmentUtils.leftAlignIndel(IndelRealigner.unclipCigar(read.getCigar()), ref.getBases(), read.getReadBases(), 0, 0, true); newCigar = IndelRealigner.reclipCigar(newCigar, read); read.setCigar(newCigar); } diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java index dce27eba7..e3d3c6640 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java @@ -48,14 +48,12 @@ package org.broadinstitute.sting.gatk.walkers.indels; import com.google.java.contract.Ensures; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; -import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.clipping.ReadClipper; import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.pairhmm.ExactPairHMM; -//import org.broadinstitute.sting.utils.pairhmm.LoglessCachingPairHMM; -import org.broadinstitute.sting.utils.pairhmm.OriginalPairHMM; +import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; +import org.broadinstitute.sting.utils.pairhmm.Log10PairHMM; import org.broadinstitute.sting.utils.pairhmm.PairHMM; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -68,6 +66,8 @@ import java.util.Arrays; import java.util.LinkedHashMap; import java.util.Map; +//import org.broadinstitute.sting.utils.pairhmm.LoglessCachingPairHMM; + public class PairHMMIndelErrorModel { public static final int BASE_QUAL_THRESHOLD = 20; @@ -116,12 +116,11 @@ public class PairHMMIndelErrorModel { switch (hmmType) { case EXACT: - pairHMM = new ExactPairHMM(); + pairHMM = new Log10PairHMM(true); break; case ORIGINAL: - pairHMM = new OriginalPairHMM(); + pairHMM = new Log10PairHMM(false); break; - case CACHING: case LOGLESS_CACHING: //TODO: still not tested so please do not use yet //pairHMM = new LoglessCachingPairHMM(); //TODO - add it back when the figure out how to use the protected LoglessCachingPairHMM class throw new UserException.BadArgumentValue("pairHMM"," this option (LOGLESS_CACHING in UG) is still under development"); @@ -344,8 +343,10 @@ public class PairHMMIndelErrorModel { } } else { - final byte[] readBases = Arrays.copyOfRange(unclippedReadBases,numStartSoftClippedBases, unclippedReadBases.length-numEndSoftClippedBases); - final byte[] readQuals = Arrays.copyOfRange(unclippedReadQuals,numStartSoftClippedBases, unclippedReadBases.length-numEndSoftClippedBases); + final int endOfCopy = unclippedReadBases.length - numEndSoftClippedBases; + final byte[] readBases = Arrays.copyOfRange(unclippedReadBases, numStartSoftClippedBases, endOfCopy); + final byte[] readQuals = Arrays.copyOfRange(unclippedReadQuals, numStartSoftClippedBases, endOfCopy); + int j=0; byte[] previousHaplotypeSeen = null; @@ -357,6 +358,16 @@ public class PairHMMIndelErrorModel { getContextHomopolymerLength(readBases,hrunProfile); fillGapProbabilities(hrunProfile, contextLogGapOpenProbabilities, contextLogGapContinuationProbabilities); + // get the base insertion and deletion qualities to use + final byte[] baseInsertionQualities, baseDeletionQualities; + if ( read.hasBaseIndelQualities() ) { + baseInsertionQualities = Arrays.copyOfRange(read.getBaseInsertionQualities(), numStartSoftClippedBases, endOfCopy); + baseDeletionQualities = Arrays.copyOfRange(read.getBaseDeletionQualities(), numStartSoftClippedBases, endOfCopy); + } else { + baseInsertionQualities = contextLogGapOpenProbabilities; + baseDeletionQualities = contextLogGapOpenProbabilities; + } + boolean firstHap = true; for (Allele a: haplotypeMap.keySet()) { @@ -386,7 +397,7 @@ public class PairHMMIndelErrorModel { if (previousHaplotypeSeen == null) { //no need to reallocate arrays for each new haplotype, as length won't change - pairHMM.initialize(X_METRIC_LENGTH, Y_METRIC_LENGTH); + pairHMM.initialize(Y_METRIC_LENGTH, X_METRIC_LENGTH); } int startIndexInHaplotype = 0; @@ -395,8 +406,7 @@ public class PairHMMIndelErrorModel { previousHaplotypeSeen = haplotypeBases.clone(); readLikelihood = pairHMM.computeReadLikelihoodGivenHaplotypeLog10(haplotypeBases, readBases, readQuals, - (read.hasBaseIndelQualities() ? read.getBaseInsertionQualities() : contextLogGapOpenProbabilities), - (read.hasBaseIndelQualities() ? read.getBaseDeletionQualities() : contextLogGapOpenProbabilities), + baseInsertionQualities, baseDeletionQualities, contextLogGapContinuationProbabilities, startIndexInHaplotype, firstHap); diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ReadBin.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ReadBin.java new file mode 100644 index 000000000..758256c82 --- /dev/null +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/ReadBin.java @@ -0,0 +1,123 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.indels; + +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.HasGenomeLocation; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +import java.util.ArrayList; +import java.util.List; + +/** +* User: carneiro +* Date: 2/16/13 +* Time: 11:15 PM +*/ +class ReadBin implements HasGenomeLocation { + + private final ArrayList reads = new ArrayList(); + private byte[] reference = null; + private GenomeLoc loc = null; + private final GenomeLocParser parser; + private final int referencePadding; + + public ReadBin(final GenomeLocParser parser, final int referencePadding) { + this.parser = parser; + this.referencePadding = referencePadding; + } + + // Return false if we can't process this read bin because the reads are not correctly overlapping. + // This can happen if e.g. there's a large known indel with no overlapping reads. + public void add(GATKSAMRecord read) { + + final int readStart = read.getSoftStart(); + final int readStop = read.getSoftEnd(); + if ( loc == null ) + loc = parser.createGenomeLoc(read.getReferenceName(), readStart, readStop); + else if ( readStop > loc.getStop() ) + loc = parser.createGenomeLoc(loc.getContig(), loc.getStart(), readStop); + + reads.add(read); + } + + public List getReads() { + return reads; + } + + @Requires("referenceReader.isUppercasingBases()") + public byte[] getReference(CachingIndexedFastaSequenceFile referenceReader) { + // set up the reference if we haven't done so yet + if ( reference == null ) { + // first, pad the reference to handle deletions in narrow windows (e.g. those with only 1 read) + int padLeft = Math.max(loc.getStart()- referencePadding, 1); + int padRight = Math.min(loc.getStop()+ referencePadding, referenceReader.getSequenceDictionary().getSequence(loc.getContig()).getSequenceLength()); + loc = parser.createGenomeLoc(loc.getContig(), loc.getContigIndex(), padLeft, padRight); + reference = referenceReader.getSubsequenceAt(loc.getContig(), loc.getStart(), loc.getStop()).getBases(); + } + + return reference; + } + + public GenomeLoc getLocation() { + return loc; + } + + public int size() { + return reads.size(); + } + + public void clear() { + reads.clear(); + reference = null; + loc = null; + } + +} diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java index 8a4263f3a..1ee04e317 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/indels/RealignerTargetCreator.java @@ -60,6 +60,7 @@ import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.variant.variantcontext.VariantContext; @@ -90,9 +91,12 @@ import java.util.TreeSet; *
  • Running the realigner over those intervals (see the IndelRealigner tool)
    • * *

    - * An important note: the input BAM(s), reference, and known indel file(s) should be the same ones to be used for the IndelRealigner step. + * Important note 1: the input BAM(s), reference, and known indel file(s) should be the same ones to be used for the IndelRealigner step. *

    - * Another important note: because reads produced from the 454 technology inherently contain false indels, the realigner will not currently work with them + * Important note 2: when multiple potential indels are found by the tool in the same general region, the tool will choose the most likely + * one for realignment to the exclusion of the others. This is a known limitation of the tool. + *

    + * Important note 3: because reads produced from the 454 technology inherently contain false indels, the realigner will not currently work with them * (or with reads from similar technologies). This tool also ignores MQ0 reads and reads with consecutive indel operators in the CIGAR string. * *

    Input

    @@ -117,7 +121,7 @@ import java.util.TreeSet; * * @author ebanks */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) @ReadFilters({MappingQualityZeroFilter.class, MappingQualityUnavailableFilter.class, BadMateFilter.class, Platform454Filter.class, BadCigarFilter.class}) @Reference(window=@Window(start=-1,stop=50)) @Allows(value={DataSource.READS, DataSource.REFERENCE}) diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java index 80c49ff19..54a324411 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/PhaseByTransmission.java @@ -57,7 +57,9 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.samples.Sample; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; @@ -122,7 +124,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) public class PhaseByTransmission extends RodWalker, HashMap> { @ArgumentCollection @@ -394,7 +396,7 @@ public class PhaseByTransmission extends RodWalker, HashMa int phredScoreTransmission = -1; if(transmissionProb != NO_TRANSMISSION_PROB){ - double dphredScoreTransmission = MathUtils.log10ProbabilityToPhredScale(Math.log10(1-(transmissionProb))); + double dphredScoreTransmission = QualityUtils.phredScaleLog10ErrorRate(Math.log10(1 - (transmissionProb))); phredScoreTransmission = dphredScoreTransmission < Byte.MAX_VALUE ? (byte)dphredScoreTransmission : Byte.MAX_VALUE; } //Handle null, missing and unavailable genotypes diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java index 2722e396c..9153ede70 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/phasing/ReadBackedPhasing.java @@ -57,6 +57,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.filters.MappingQualityZeroFilter; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.sting.utils.BaseUtils; @@ -118,7 +119,7 @@ import static org.broadinstitute.sting.utils.variant.GATKVCFUtils.getVCFHeadersF // Filter out all reads with zero mapping quality @ReadFilters({MappingQualityZeroFilter.class}) -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) public class ReadBackedPhasing extends RodWalker { @Argument(fullName="debug", shortName="debug", doc="If specified, print out very verbose debug information (if -l DEBUG is also specified)", required = false) protected boolean DEBUG = false; @@ -1063,7 +1064,7 @@ public class ReadBackedPhasing extends RodWalker * */ -@DocumentedGATKFeature( groupName = "Validation Utilities", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VALIDATION, extraDocs = {CommandLineGATK.class} ) public class ValidationSiteSelector extends RodWalker { public enum AF_COMPUTATION_MODE { diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java index 279e5f218..f2120213a 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/ApplyRecalibration.java @@ -59,6 +59,7 @@ import org.broadinstitute.sting.gatk.walkers.PartitionType; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.variant.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -107,7 +108,7 @@ import java.util.*; * */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) @PartitionBy(PartitionType.LOCUS) public class ApplyRecalibration extends RodWalker implements TreeReducible { diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java index d8d79e26c..57d9c219c 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantRecalibrator.java @@ -59,6 +59,7 @@ import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.R.RScriptExecutor; import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.variant.vcf.VCFHeaderLine; @@ -125,7 +126,7 @@ import java.util.*; * */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) @PartitionBy(PartitionType.NONE) public class VariantRecalibrator extends RodWalker, ExpandingArrayList> implements TreeReducible> { diff --git a/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RegenotypeVariants.java b/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RegenotypeVariants.java index c8fc27e6a..85d25aecf 100644 --- a/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RegenotypeVariants.java +++ b/protected/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RegenotypeVariants.java @@ -60,6 +60,7 @@ import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyper; import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.variantcontext.*; @@ -98,7 +99,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) public class RegenotypeVariants extends RodWalker implements TreeReducible { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); diff --git a/protected/java/src/org/broadinstitute/sting/utils/pairhmm/LoglessCachingPairHMM.java b/protected/java/src/org/broadinstitute/sting/utils/pairhmm/LoglessCachingPairHMM.java index bfef529df..24d6e1220 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/pairhmm/LoglessCachingPairHMM.java +++ b/protected/java/src/org/broadinstitute/sting/utils/pairhmm/LoglessCachingPairHMM.java @@ -46,20 +46,25 @@ package org.broadinstitute.sting.utils.pairhmm; +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; import org.broadinstitute.sting.utils.QualityUtils; -import java.util.Arrays; - /** * Created with IntelliJ IDEA. * User: rpoplin, carneiro * Date: 10/16/12 */ - -public class LoglessCachingPairHMM extends CachingPairHMM { - +public class LoglessCachingPairHMM extends PairHMM { protected static final double SCALE_FACTOR_LOG10 = 300.0; + double[][] constantMatrix = null; // The cache + double[][] distanceMatrix = null; // The cache + boolean constantsAreInitialized = false; + + /** + * Cached data structure that describes the first row's edge condition in the HMM + */ protected static final double [] firstRowConstantMatrix = { QualityUtils.qualToProb((byte) (DEFAULT_GOP + DEFAULT_GOP)), QualityUtils.qualToProb(DEFAULT_GCP), @@ -69,63 +74,48 @@ public class LoglessCachingPairHMM extends CachingPairHMM { 1.0 }; + /** + * {@inheritDoc} + */ @Override - public void initialize( final int READ_MAX_LENGTH, final int HAPLOTYPE_MAX_LENGTH ) { + public void initialize( final int haplotypeMaxLength, final int readMaxLength) { + super.initialize(haplotypeMaxLength, readMaxLength); - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = READ_MAX_LENGTH + 2; - final int Y_METRIC_LENGTH = HAPLOTYPE_MAX_LENGTH + 2; - - matchMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - XMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - YMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - - for( int iii=0; iii < X_METRIC_LENGTH; iii++ ) { - Arrays.fill(matchMetricArray[iii], 0.0); - Arrays.fill(XMetricArray[iii], 0.0); - Arrays.fill(YMetricArray[iii], 0.0); - } - - // the initial condition - matchMetricArray[1][1] = Math.pow(10.0, SCALE_FACTOR_LOG10); // Math.log10(1.0); - - constantMatrix = new double[X_METRIC_LENGTH][6]; - distanceMatrix = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - - // fill in the first row - for( int jjj = 2; jjj < Y_METRIC_LENGTH; jjj++ ) { - updateCell(1, jjj, 1.0, firstRowConstantMatrix, matchMetricArray, XMetricArray, YMetricArray); - } + constantMatrix = new double[X_METRIC_MAX_LENGTH][6]; + distanceMatrix = new double[X_METRIC_MAX_LENGTH][Y_METRIC_MAX_LENGTH]; } + /** + * {@inheritDoc} + */ @Override - public double computeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, - final byte[] readBases, - final byte[] readQuals, - final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP, - final int hapStartIndex, - final boolean recacheReadValues ) { - - if( recacheReadValues ) { - initializeConstants( insertionGOP, deletionGOP, overallGCP ); - } + public double subComputeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, + final byte[] readBases, + final byte[] readQuals, + final byte[] insertionGOP, + final byte[] deletionGOP, + final byte[] overallGCP, + final int hapStartIndex, + final boolean recacheReadValues ) { + if ( ! constantsAreInitialized || recacheReadValues ) + initializeConstants( haplotypeBases.length, readBases.length, insertionGOP, deletionGOP, overallGCP ); initializeDistanceMatrix( haplotypeBases, readBases, readQuals, hapStartIndex ); - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = readBases.length + 2; - final int Y_METRIC_LENGTH = haplotypeBases.length + 2; + // NOTE NOTE NOTE -- because of caching we need to only operate over X and Y according to this + // read and haplotype lengths, not the max lengths + final int readXMetricLength = readBases.length + 2; + final int hapYMetricLength = haplotypeBases.length + 2; - for (int i = 2; i < X_METRIC_LENGTH; i++) { - for (int j = hapStartIndex+1; j < Y_METRIC_LENGTH; j++) { + for (int i = 2; i < readXMetricLength; i++) { + // +1 here is because hapStartIndex is 0-based, but our matrices are 1 based + for (int j = hapStartIndex+1; j < hapYMetricLength; j++) { updateCell(i, j, distanceMatrix[i][j], constantMatrix[i], matchMetricArray, XMetricArray, YMetricArray); } } // final probability is the log10 sum of the last element in all three state arrays - final int endI = X_METRIC_LENGTH - 1; - final int endJ = Y_METRIC_LENGTH - 1; + final int endI = readXMetricLength - 1; + final int endJ = hapYMetricLength - 1; return Math.log10( matchMetricArray[endI][endJ] + XMetricArray[endI][endJ] + YMetricArray[endI][endJ] ) - SCALE_FACTOR_LOG10; } @@ -160,13 +150,32 @@ public class LoglessCachingPairHMM extends CachingPairHMM { /** * Initializes the matrix that holds all the constants related to quality scores. * + * @param haplotypeSize the number of bases in the haplotype we are testing + * @param readSize the number of bases in the read we are testing * @param insertionGOP insertion quality scores of the read * @param deletionGOP deletion quality scores of the read * @param overallGCP overall gap continuation penalty */ - public void initializeConstants( final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP ) { + @Requires({ + "haplotypeSize > 0", + "readSize > 0", + "insertionGOP != null && insertionGOP.length == readSize", + "deletionGOP != null && deletionGOP.length == readSize", + "overallGCP != null && overallGCP.length == readSize" + }) + @Ensures("constantsAreInitialized") + private void initializeConstants( final int haplotypeSize, + final int readSize, + final byte[] insertionGOP, + final byte[] deletionGOP, + final byte[] overallGCP ) { + // the initial condition -- must be here because it needs that actual read and haplotypes, not the maximum in init + matchMetricArray[1][1] = Math.pow(10.0, SCALE_FACTOR_LOG10) / getNPotentialXStarts(haplotypeSize, readSize); + + // fill in the first row + for( int jjj = 2; jjj < Y_METRIC_MAX_LENGTH; jjj++ ) { + updateCell(1, jjj, 1.0, firstRowConstantMatrix, matchMetricArray, XMetricArray, YMetricArray); + } final int l = insertionGOP.length; constantMatrix[1] = firstRowConstantMatrix; @@ -181,6 +190,9 @@ public class LoglessCachingPairHMM extends CachingPairHMM { } constantMatrix[l+1][4] = 1.0; constantMatrix[l+1][5] = 1.0; + + // note that we initialized the constants + constantsAreInitialized = true; } /** diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/BQSRReadTransformer.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/BQSRReadTransformer.java index c85072fa2..113ea2222 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/BQSRReadTransformer.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/BQSRReadTransformer.java @@ -66,6 +66,13 @@ public class BQSRReadTransformer extends ReadTransformer { public ApplicationTime initializeSub(final GenomeAnalysisEngine engine, final Walker walker) { this.enabled = engine.hasBQSRArgumentSet(); if ( enabled ) { + // TODO -- See important note below about applying BQSR to a reduced BAM file: + // If it is important to make sure that BQSR is not applied (as opposed to having the covariates computed) against a reduced bam file, + // we need to figure out how to make this work. The problem is that the ReadTransformers are initialized before the ReadDataSource + // inside the GenomeAnalysisEngine, so we generate a NPE when trying to retrieve the SAMFileHeaders. Ultimately, I don't think this is + // a necessary check anyways since we disallow running BaseRecalibrator on reduced bams (so we can't generate the recal tables to use here). + // Although we could add this check to the apply() method below, it's kind of ugly and inefficient. + // The call here would be: RecalUtils.checkForInvalidRecalBams(engine.getSAMFileHeaders(), engine.getArguments().ALLOW_BQSR_ON_REDUCED_BAMS); final BQSRArgumentSet args = engine.getBQSRArgumentSet(); this.bqsr = new BaseRecalibration(args.getRecalFile(), args.getQuantizationLevels(), args.shouldDisableIndelQuals(), args.getPreserveQscoresLessThan(), args.shouldEmitOriginalQuals(), args.getGlobalQScorePrior()); } diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java index bb62cd74d..419dbaca6 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/BaseRecalibration.java @@ -52,7 +52,6 @@ import net.sf.samtools.SAMUtils; import org.apache.log4j.Logger; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.collections.NestedIntegerArray; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.recalibration.covariates.Covariate; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -174,7 +173,7 @@ public class BaseRecalibration { double recalibratedQualDouble = hierarchicalBayesianQualityEstimate( epsilon, empiricalQualRG, empiricalQualQS, empiricalQualCovs ); // recalibrated quality is bound between 1 and MAX_QUAL - final byte recalibratedQual = QualityUtils.boundQual(MathUtils.fastRound(recalibratedQualDouble), QualityUtils.MAX_RECALIBRATED_Q_SCORE); + final byte recalibratedQual = QualityUtils.boundQual(MathUtils.fastRound(recalibratedQualDouble), RecalDatum.MAX_RECALIBRATED_Q_SCORE); // return the quantized version of the recalibrated quality final byte recalibratedQualityScore = quantizationInfo.getQuantizedQuals().get(recalibratedQual); diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java index 913e35e08..85379b900 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/QualQuantizer.java @@ -162,7 +162,7 @@ public class QualQuantizer { "nObservations >= 0", "nErrors >= 0", "nErrors <= nObservations", - "fixedQual >= -1 && fixedQual <= QualityUtils.MAX_QUAL_SCORE", + "fixedQual >= -1 && fixedQual <= QualityUtils.MAX_SAM_QUAL_SCORE", "mergeOrder >= 0"}) protected final class QualInterval implements Comparable { final int qStart, qEnd, fixedQual, level; @@ -224,10 +224,10 @@ public class QualQuantizer { /** * @return the QUAL of the error rate of this interval, or the fixed qual if this interval was created with a fixed qual. */ - @Ensures("result >= 0 && result <= QualityUtils.MAX_QUAL_SCORE") + @Ensures("result >= 0 && result <= QualityUtils.MAX_SAM_QUAL_SCORE") public byte getQual() { if ( ! hasFixedQual() ) - return QualityUtils.probToQual(1-getErrorRate(), 0); + return QualityUtils.errorProbToQual(getErrorRate()); else return (byte)fixedQual; } diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/QuantizationInfo.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/QuantizationInfo.java index eb4f61266..464390b99 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/QuantizationInfo.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/QuantizationInfo.java @@ -76,7 +76,7 @@ public class QuantizationInfo { } public QuantizationInfo(final RecalibrationTables recalibrationTables, final int quantizationLevels) { - final Long [] qualHistogram = new Long[QualityUtils.MAX_QUAL_SCORE+1]; // create a histogram with the empirical quality distribution + final Long [] qualHistogram = new Long[QualityUtils.MAX_SAM_QUAL_SCORE +1]; // create a histogram with the empirical quality distribution for (int i = 0; i < qualHistogram.length; i++) qualHistogram[i] = 0L; @@ -100,7 +100,7 @@ public class QuantizationInfo { } public void noQuantization() { - this.quantizationLevels = QualityUtils.MAX_QUAL_SCORE; + this.quantizationLevels = QualityUtils.MAX_SAM_QUAL_SCORE; for (int i = 0; i < this.quantizationLevels; i++) quantizedQuals.set(i, (byte) i); } @@ -124,7 +124,7 @@ public class QuantizationInfo { quantizedTable.addColumn(RecalUtils.QUANTIZED_COUNT_COLUMN_NAME); quantizedTable.addColumn(RecalUtils.QUANTIZED_VALUE_COLUMN_NAME); - for (int qual = 0; qual <= QualityUtils.MAX_QUAL_SCORE; qual++) { + for (int qual = 0; qual <= QualityUtils.MAX_SAM_QUAL_SCORE; qual++) { quantizedTable.set(qual, RecalUtils.QUALITY_SCORE_COLUMN_NAME, qual); quantizedTable.set(qual, RecalUtils.QUANTIZED_COUNT_COLUMN_NAME, empiricalQualCounts.get(qual)); quantizedTable.set(qual, RecalUtils.QUANTIZED_VALUE_COLUMN_NAME, quantizedQuals.get(qual)); diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalDatum.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalDatum.java index be537f294..ea3781204 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalDatum.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalDatum.java @@ -74,10 +74,10 @@ package org.broadinstitute.sting.utils.recalibration; import com.google.java.contract.Ensures; import com.google.java.contract.Invariant; import com.google.java.contract.Requires; +import net.sf.samtools.SAMUtils; import org.apache.commons.math.optimization.fitting.GaussianFunction; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; -import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; /** @@ -100,6 +100,7 @@ import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; "numMismatches <= numObservations" }) public class RecalDatum { + public final static byte MAX_RECALIBRATED_Q_SCORE = SAMUtils.MAX_PHRED_SCORE; private static final double UNINITIALIZED = -1.0; /** @@ -337,7 +338,7 @@ public class RecalDatum { // This is the old and busted point estimate approach: //final double empiricalQual = -10 * Math.log10(getEmpiricalErrorRate()); - empiricalQuality = Math.min(empiricalQual, (double) QualityUtils.MAX_RECALIBRATED_Q_SCORE); + empiricalQuality = Math.min(empiricalQual, (double) MAX_RECALIBRATED_Q_SCORE); } //static final boolean DEBUG = false; @@ -369,7 +370,12 @@ public class RecalDatum { return Qemp; } - static private final double[] log10QempPriorCache = new double[QualityUtils.MAX_GATK_USABLE_Q_SCORE + 1]; + /** + * Quals above this value should be capped down to this value (because they are too high) + * in the base quality score recalibrator + */ + public final static byte MAX_GATK_USABLE_Q_SCORE = 40; + static private final double[] log10QempPriorCache = new double[MAX_GATK_USABLE_Q_SCORE + 1]; static { // f(x) = a + b*exp(-((x - c)^2 / (2*d^2))) // Note that b is the height of the curve's peak, c is the position of the center of the peak, and d controls the width of the "bell". @@ -379,7 +385,7 @@ public class RecalDatum { final double GF_d = 0.5; // with these parameters, deltas can shift at most ~20 Q points final GaussianFunction gaussian = new GaussianFunction(GF_a, GF_b, GF_c, GF_d); - for ( int i = 0; i <= QualityUtils.MAX_GATK_USABLE_Q_SCORE; i++ ) { + for ( int i = 0; i <= MAX_GATK_USABLE_Q_SCORE; i++ ) { double log10Prior = Math.log10(gaussian.value((double) i)); if ( Double.isInfinite(log10Prior) ) log10Prior = -Double.MAX_VALUE; @@ -388,7 +394,7 @@ public class RecalDatum { } static protected double log10QempPrior(final double Qempirical, final double Qreported) { - final int difference = Math.min(Math.abs((int) (Qempirical - Qreported)), QualityUtils.MAX_GATK_USABLE_Q_SCORE); + final int difference = Math.min(Math.abs((int) (Qempirical - Qreported)), MAX_GATK_USABLE_Q_SCORE); //if ( DEBUG ) // System.out.println(String.format("Qemp = %f, log10Priors = %f", Qempirical, log10QempPriorCache[difference])); return log10QempPriorCache[difference]; diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalUtils.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalUtils.java index f7c3440e4..ce2869e94 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalUtils.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalUtils.java @@ -46,10 +46,14 @@ package org.broadinstitute.sting.utils.recalibration; +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; +import net.sf.samtools.SAMFileHeader; import org.apache.log4j.Logger; import org.broadinstitute.sting.gatk.report.GATKReport; import org.broadinstitute.sting.gatk.report.GATKReportTable; import org.broadinstitute.sting.gatk.walkers.bqsr.RecalibrationArgumentCollection; +import org.broadinstitute.sting.gatk.walkers.compression.reducereads.ReduceReads; import org.broadinstitute.sting.utils.classloader.JVMUtils; import org.broadinstitute.sting.utils.recalibration.covariates.*; import org.broadinstitute.sting.utils.BaseUtils; @@ -57,7 +61,6 @@ import org.broadinstitute.sting.utils.R.RScriptExecutor; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.classloader.PluginManager; import org.broadinstitute.sting.utils.collections.NestedIntegerArray; -import org.broadinstitute.sting.utils.collections.NestedHashMap; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -421,7 +424,7 @@ public class RecalUtils { private static void writeCSV(final PrintStream deltaTableFile, final RecalibrationTables recalibrationTables, final String recalibrationMode, final Covariate[] requestedCovariates, final boolean printHeader) { - final NestedHashMap deltaTable = new NestedHashMap(); + final NestedIntegerArray deltaTable = createDeltaTable(recalibrationTables, requestedCovariates.length); // add the quality score table to the delta table final NestedIntegerArray qualTable = recalibrationTables.getQualityScoreTable(); @@ -468,24 +471,57 @@ public class RecalUtils { covariateNameMap.put(covariate, parseCovariateName(covariate)); // print each data line - for (final NestedHashMap.Leaf leaf : deltaTable.getAllLeaves()) { + for (final NestedIntegerArray.Leaf leaf : deltaTable.getAllLeaves()) { final List deltaKeys = generateValuesFromKeys(leaf.keys, requestedCovariates, covariateNameMap); - final RecalDatum deltaDatum = (RecalDatum)leaf.value; + final RecalDatum deltaDatum = leaf.value; deltaTableFile.print(Utils.join(",", deltaKeys)); deltaTableFile.print("," + deltaDatum.stringForCSV()); deltaTableFile.println("," + recalibrationMode); } } - protected static List generateValuesFromKeys(final List keys, final Covariate[] covariates, final Map covariateNameMap) { + /* + * Return an initialized nested integer array with appropriate dimensions for use with the delta tables + * + * @param recalibrationTables the recal tables + * @param numCovariates the total number of covariates being used + * @return a non-null nested integer array + */ + @Requires("recalibrationTables != null && numCovariates > 0") + @Ensures("result != null") + private static NestedIntegerArray createDeltaTable(final RecalibrationTables recalibrationTables, final int numCovariates) { + + final int[] dimensionsForDeltaTable = new int[4]; + + // initialize the dimensions with those of the qual table to start with + final NestedIntegerArray qualTable = recalibrationTables.getQualityScoreTable(); + final int[] dimensionsOfQualTable = qualTable.getDimensions(); + dimensionsForDeltaTable[0] = dimensionsOfQualTable[0]; // num read groups + dimensionsForDeltaTable[1] = numCovariates + 1; // num covariates + dimensionsForDeltaTable[2] = dimensionsOfQualTable[1]; + dimensionsForDeltaTable[3] = dimensionsOfQualTable[2]; + + // now, update the dimensions based on the optional covariate tables as needed + for ( int i = RecalibrationTables.TableType.OPTIONAL_COVARIATE_TABLES_START.ordinal(); i < numCovariates; i++ ) { + final NestedIntegerArray covTable = recalibrationTables.getTable(i); + final int[] dimensionsOfCovTable = covTable.getDimensions(); + dimensionsForDeltaTable[2] = Math.max(dimensionsForDeltaTable[2], dimensionsOfCovTable[2]); + dimensionsForDeltaTable[3] = Math.max(dimensionsForDeltaTable[3], dimensionsOfCovTable[3]); + } + + return new NestedIntegerArray(dimensionsForDeltaTable); + } + + protected static List generateValuesFromKeys(final int[] keys, final Covariate[] covariates, final Map covariateNameMap) { final List values = new ArrayList(4); - values.add(covariates[RecalibrationTables.TableType.READ_GROUP_TABLE.ordinal()].formatKey((Integer)keys.get(0))); - final int covariateIndex = (Integer)keys.get(1); + values.add(covariates[RecalibrationTables.TableType.READ_GROUP_TABLE.ordinal()].formatKey(keys[0])); + + final int covariateIndex = keys[1]; + final int covariateKey = keys[2]; final Covariate covariate = covariateIndex == covariates.length ? covariates[RecalibrationTables.TableType.QUALITY_SCORE_TABLE.ordinal()] : covariates[covariateIndex]; - final int covariateKey = (Integer)keys.get(2); values.add(covariate.formatKey(covariateKey)); values.add(covariateNameMap.get(covariate)); - values.add(EventType.eventFrom((Integer)keys.get(3)).prettyPrint()); + values.add(EventType.eventFrom(keys[3]).prettyPrint()); return values; } @@ -499,20 +535,14 @@ public class RecalUtils { * @param deltaKey the key to the table * @param recalDatum the recal datum to combine with the accuracyDatum element in the table */ - private static void addToDeltaTable(final NestedHashMap deltaTable, final int[] deltaKey, final RecalDatum recalDatum) { - Object[] wrappedKey = wrapKeys(deltaKey); - final RecalDatum deltaDatum = (RecalDatum)deltaTable.get(wrappedKey); // check if we already have a RecalDatum for this key + private static void addToDeltaTable(final NestedIntegerArray deltaTable, final int[] deltaKey, final RecalDatum recalDatum) { + final RecalDatum deltaDatum = deltaTable.get(deltaKey); // check if we already have a RecalDatum for this key if (deltaDatum == null) - deltaTable.put(new RecalDatum(recalDatum), wrappedKey); // if we don't have a key yet, create a new one with the same values as the curent datum + // if we don't have a key yet, create a new one with the same values as the current datum + deltaTable.put(new RecalDatum(recalDatum), deltaKey); else - deltaDatum.combine(recalDatum); // if we do have a datum, combine it with this one. - } - - private static Object[] wrapKeys(final int[] keys) { - final Object[] wrappedKeys = new Object[keys.length]; - for (int i = 0; i < keys.length; i++) - wrappedKeys[i] = keys[i]; - return wrappedKeys; + // if we do have a datum, combine it with this one + deltaDatum.combine(recalDatum); } /** @@ -847,7 +877,6 @@ public class RecalUtils { } } - /** * creates a datum object with one observation and one or zero error * @@ -858,4 +887,20 @@ public class RecalUtils { private static RecalDatum createDatumObject(final byte reportedQual, final double isError) { return new RecalDatum(1, isError, reportedQual); } + + /** + * Checks for invalid BAMs that are being used with BQSR and fails with a UserException if it finds one + * + * @param headers sam file headers being passed into the GATK engine + * @param allowBqsrOnReducedBams should we allow BQSR on reduced bams? + */ + public static void checkForInvalidRecalBams(final List headers, final boolean allowBqsrOnReducedBams) { + // for now, the only check we make is against reduced bams + if ( !allowBqsrOnReducedBams ) { + for ( final SAMFileHeader header : headers ) { + if ( header.getProgramRecord(ReduceReads.PROGRAM_RECORD_NAME) != null ) + throw new UserException.BadInput("base quality score recalibration should absolutely not be run on reduced BAM files! Please run ReduceReads only after BQSR has been performed"); + } + } + } } diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationReport.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationReport.java index f10c26ddc..a3fec6a22 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationReport.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/RecalibrationReport.java @@ -263,11 +263,11 @@ public class RecalibrationReport { * Parses the quantization table from the GATK Report and turns it into a map of original => quantized quality scores * * @param table the GATKReportTable containing the quantization mappings - * @return an ArrayList with the quantization mappings from 0 to MAX_QUAL_SCORE + * @return an ArrayList with the quantization mappings from 0 to MAX_SAM_QUAL_SCORE */ private QuantizationInfo initializeQuantizationTable(GATKReportTable table) { - final Byte[] quals = new Byte[QualityUtils.MAX_QUAL_SCORE + 1]; - final Long[] counts = new Long[QualityUtils.MAX_QUAL_SCORE + 1]; + final Byte[] quals = new Byte[QualityUtils.MAX_SAM_QUAL_SCORE + 1]; + final Long[] counts = new Long[QualityUtils.MAX_SAM_QUAL_SCORE + 1]; for ( int i = 0; i < table.getNumRows(); i++ ) { final byte originalQual = (byte)i; final Object quantizedObject = table.get(i, RecalUtils.QUANTIZED_VALUE_COLUMN_NAME); @@ -322,6 +322,9 @@ public class RecalibrationReport { else if (argument.equals("deletions_default_quality")) RAC.DELETIONS_DEFAULT_QUALITY = Byte.parseByte((String) value); + else if (argument.equals("maximum_cycle_value")) + RAC.MAXIMUM_CYCLE_VALUE = Integer.parseInt((String) value); + else if (argument.equals("low_quality_tail")) RAC.LOW_QUAL_TAIL = Byte.parseByte((String) value); diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/CycleCovariate.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/CycleCovariate.java index bccaea827..bcb42f7ef 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/CycleCovariate.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/CycleCovariate.java @@ -136,9 +136,6 @@ public class CycleCovariate implements StandardCovariate { final int MAX_CYCLE_FOR_INDELS = readLength - CUSHION_FOR_INDELS - 1; for (int i = 0; i < readLength; i++) { - if ( cycle > MAXIMUM_CYCLE_VALUE ) - throw new UserException("The maximum allowed value for the cycle is " + MAXIMUM_CYCLE_VALUE + ", but a larger cycle was detected in read " + read.getReadName() + ". Please use the --maximum_cycle_value argument to increase this value (at the expense of requiring more memory to run)"); - final int substitutionKey = keyFromCycle(cycle); final int indelKey = (i < CUSHION_FOR_INDELS || i > MAX_CYCLE_FOR_INDELS) ? -1 : substitutionKey; values.addCovariate(substitutionKey, indelKey, indelKey, i); @@ -268,9 +265,12 @@ public class CycleCovariate implements StandardCovariate { return (MAXIMUM_CYCLE_VALUE << 1) + 1; } - private static int keyFromCycle(final int cycle) { + private int keyFromCycle(final int cycle) { // no negative values because values must fit into the first few bits of the long int result = Math.abs(cycle); + if ( result > MAXIMUM_CYCLE_VALUE ) + throw new UserException("The maximum allowed value for the cycle is " + MAXIMUM_CYCLE_VALUE + ", but a larger cycle (" + result + ") was detected. Please use the --maximum_cycle_value argument to increase this value (at the expense of requiring more memory to run)"); + result = result << 1; // shift so we can add the "sign" bit if ( cycle < 0 ) result++; // negative cycles get the lower-most bit set diff --git a/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/QualityScoreCovariate.java b/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/QualityScoreCovariate.java index 4d5af87a8..46284b27e 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/QualityScoreCovariate.java +++ b/protected/java/src/org/broadinstitute/sting/utils/recalibration/covariates/QualityScoreCovariate.java @@ -119,6 +119,6 @@ public class QualityScoreCovariate implements RequiredCovariate { @Override public int maximumKeyValue() { - return QualityUtils.MAX_QUAL_SCORE; + return QualityUtils.MAX_SAM_QUAL_SCORE; } } \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtilsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtilsUnitTest.java index 8257122e1..dd131b797 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtilsUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtilsUnitTest.java @@ -46,10 +46,18 @@ package org.broadinstitute.sting.gatk.downsampling; +import org.apache.log4j.Logger; import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.Assert; import org.testng.annotations.Test; +import java.io.File; +import java.util.HashMap; +import java.util.HashSet; +import java.util.Map; +import java.util.Set; + /** * Basic unit test for AlleleBiasedDownsamplingUtils @@ -126,4 +134,75 @@ public class AlleleBiasedDownsamplingUtilsUnitTest extends BaseTest { } return true; } + + + @Test + public void testLoadContaminationFile1(){ + Logger logger=org.apache.log4j.Logger.getRootLogger(); + + final String ArtificalBAMLocation = privateTestDir + "ArtificallyContaminatedBams/"; + final File ContamFile1=new File(ArtificalBAMLocation+"contamination.case.1.txt"); + + Map Contam1=new HashMap(); + Set Samples1=new HashSet(); + + Contam1.put("NA11918",0.15); + Samples1.addAll(Contam1.keySet()); + testLoadFile(ContamFile1,Samples1,Contam1,logger); + + Contam1.put("NA12842",0.13); + Samples1.addAll(Contam1.keySet()); + testLoadFile(ContamFile1,Samples1,Contam1,logger); + + Samples1.add("DUMMY"); + testLoadFile(ContamFile1,Samples1,Contam1,logger); + } + + private static void testLoadFile(final File file, final Set Samples, final Map map, Logger logger){ + Map loadedMap = AlleleBiasedDownsamplingUtils.loadContaminationFile(file,0.0,Samples,logger); + Assert.assertTrue(loadedMap.equals(map)); + } + + @Test + public void testLoadContaminationFiles(){ + Logger logger=org.apache.log4j.Logger.getRootLogger(); + final String ArtificalBAMLocation = privateTestDir + "ArtificallyContaminatedBams/"; + + for(int i=1; i<=5; i++){ + File ContamFile=new File(ArtificalBAMLocation+String.format("contamination.case.%d.txt",i)); + Assert.assertTrue(AlleleBiasedDownsamplingUtils.loadContaminationFile(ContamFile,0.0,null,logger).size()==2); + } + + } + + @Test(expectedExceptions = UserException.MalformedFile.class) + public void testLoadBrokenContaminationFile1(){ + testLoadBrokenContaminationFile(1); + } + + @Test(expectedExceptions = UserException.MalformedFile.class) + public void testLoadBrokenContaminationFile2(){ + testLoadBrokenContaminationFile(2); + } + @Test(expectedExceptions = UserException.MalformedFile.class) + public void testLoadBrokenContaminationFile3(){ + testLoadBrokenContaminationFile(3); + } + + @Test(expectedExceptions = UserException.MalformedFile.class) + public void testLoadBrokenContaminationFile4(){ + testLoadBrokenContaminationFile(4); + } + + + public void testLoadBrokenContaminationFile(final int i){ + Logger logger=org.apache.log4j.Logger.getRootLogger(); + final String ArtificalBAMLocation = privateTestDir + "ArtificallyContaminatedBams/"; + + File ContaminationFile=new File(ArtificalBAMLocation+String.format("contamination.case.broken.%d.txt",i)); + AlleleBiasedDownsamplingUtils.loadContaminationFile(ContaminationFile,0.0,null,logger); + + } + + } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java index f7907649d..2149091af 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/bqsr/BQSRIntegrationTest.java @@ -94,26 +94,27 @@ public class BQSRIntegrationTest extends WalkerTest { } } + private static final String HiSeqBam = privateTestDir + "HiSeq.1mb.1RG.bam"; + private static final String HiSeqInterval = "chr1:10,000,000-10,100,000"; + @DataProvider(name = "BQSRTest") public Object[][] createBQSRTestData() { - String HiSeqBam = privateTestDir + "HiSeq.1mb.1RG.bam"; - String HiSeqInterval = "chr1:10,000,000-10,100,000"; return new Object[][]{ - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, "", "6b3f252718f59cf9fd3f7612f73a35bf")}, - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov ContextCovariate", "863576ac9ff0b0e02f2e84aef15923a7")}, - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov CycleCovariate", "03e28f48201a35c70d1cf48e9f45364f")}, - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --indels_context_size 4", "6e3c5635d387a1c428a7c9c88ad26488")}, - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --low_quality_tail 5", "6507adcb94bacde4cdee9caa9f14f24b")}, - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --quantizing_levels 6", "399bbb4bf80764dfc644b2f95d824615")}, - {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --mismatches_context_size 4", "34d70899253c2b3343ca9ae944291c30")}, - {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", "", "e61fa47bfc08433f0cd55558e2081548")}, - {new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-10,200,000", "", "5c2622c63225b8b04990baf0ae4de07c")}, - {new BQSRTest(b36KGReference, validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.1RG.bam", "1:10,000,000-10,200,000", "", "ee7191d83d7d5bb957dc4595883c32f1")}, - {new BQSRTest(b36KGReference, validationDataLocation + "originalQuals.1kg.chr1.1-1K.1RG.bam", "1:1-1,000", " -OQ", "da92f4730356f479c2c2b71497cfac6d")}, - {new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-20,000,000", " --solid_recal_mode REMOVE_REF_BIAS", "8075595113b48c0c7ead08ce41bef9fe")}, - {new BQSRTest(b36KGReference, privateTestDir + "NA19240.chr1.BFAST.SOLID.hasCSNoCall.bam", "1:50,000-80,000", " --solid_nocall_strategy LEAVE_READ_UNRECALIBRATED", "be05834841c5690c66910270521d5c32")}, - {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", " -knownSites:anyNameABCD,VCF " + privateTestDir + "vcfexample3.vcf", "e61fa47bfc08433f0cd55558e2081548")}, - {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", " -knownSites:bed " + validationDataLocation + "bqsrKnownTest.bed", "8ee0b498dbbc95ce76393a0f089fec92")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, "", "61fd466b5e94d2d67e116f6f67c9f939")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov ContextCovariate", "e08b5bcdb64f4beea03730e5631a14ca")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov CycleCovariate", "448a45dc154c95d1387cb5cdddb67071")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --indels_context_size 4", "c1e7999e445d51bbe2e775dac5325643")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --low_quality_tail 5", "a57c16918cdfe12d55a89c21bf195279")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --quantizing_levels 6", "836dccacf48ccda6b2843d07e8f1ef4d")}, + {new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --mismatches_context_size 4", "0fb2aedc2f8d66b5821cb570f15a8c4d")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", "", "c9953f020a65c1603a6d71aeeb1b95f3")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-10,200,000", "", "85a120b7d86b61597b86b9e93decbdfc")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.1RG.bam", "1:10,000,000-10,200,000", "", "5248dc49aec0323c74b496bb4928c73c")}, + {new BQSRTest(b36KGReference, validationDataLocation + "originalQuals.1kg.chr1.1-1K.1RG.bam", "1:1-1,000", " -OQ", "cb52f267e0010f849f50b0bf1de474a1")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-20,000,000", " --solid_recal_mode REMOVE_REF_BIAS", "1425a5063ee757dbfc013df24e65a67a")}, + {new BQSRTest(b36KGReference, privateTestDir + "NA19240.chr1.BFAST.SOLID.hasCSNoCall.bam", "1:50,000-80,000", " --solid_nocall_strategy LEAVE_READ_UNRECALIBRATED", "c1c3cda8caceed619d3d439c3990cd26")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", " -knownSites:anyNameABCD,VCF " + privateTestDir + "vcfexample3.vcf", "c9953f020a65c1603a6d71aeeb1b95f3")}, + {new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", " -knownSites:bed " + validationDataLocation + "bqsrKnownTest.bed", "5bfff0c699345cca12a9b33acf95588f")}, }; } @@ -150,7 +151,7 @@ public class BQSRIntegrationTest extends WalkerTest { " -sortAllCols" + " --plot_pdf_file /dev/null" + " --intermediate_csv_file %s", - Arrays.asList("dd6e0e1e3f53f8ae0c8f5de21ded6ee9")); + Arrays.asList("90ad19143024684e3c4410dc8fd2bd9d")); executeTest("testBQSR-CSVfile", spec); } @@ -169,6 +170,19 @@ public class BQSRIntegrationTest extends WalkerTest { executeTest("testBQSRFailWithSolidNoCall", spec); } + @Test + public void testBQSRFailWithReducedBam() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + " -T BaseRecalibrator" + + " -R " + b37KGReference + + " -I " + privateTestDir + "bamExample.ReducedRead.ADAnnotation.bam" + + " -L 1:67,225,396-67,288,518" + + " -o /dev/null", + 0, + UserException.class); + executeTest("testBQSRFailWithReducedBam", spec); + } + private static class PRTest { final String args; final String md5; @@ -206,10 +220,41 @@ public class BQSRIntegrationTest extends WalkerTest { " -R " + hg18Reference + " -I " + privateTestDir + "HiSeq.1mb.1RG.bam" + " -nct " + nct + + " --no_pg_tag" + " -BQSR " + privateTestDir + "HiSeq.20mb.1RG.table" + params.args + " -o %s", Arrays.asList(params.md5)); executeTest("testPrintReads-"+params.args, spec).getFirst(); } + + @Test + public void testPRNoFailWithHighMaxCycle() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + " -T PrintReads" + + " -R " + hg18Reference + + " -I " + HiSeqBam + + " -L " + HiSeqInterval + + " --no_pg_tag" + + " -BQSR " + privateTestDir + "HiSeq.1mb.1RG.highMaxCycle.table" + + " -o /dev/null", + 0, + Arrays.asList()); + executeTest("testPRNoFailWithHighMaxCycle", spec); + } + + @Test + public void testPRFailWithLowMaxCycle() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + " -T PrintReads" + + " -R " + hg18Reference + + " -I " + HiSeqBam + + " -L " + HiSeqInterval + + " --no_pg_tag" + + " -BQSR " + privateTestDir + "HiSeq.1mb.1RG.lowMaxCycle.table" + + " -o /dev/null", + 0, + UserException.class); + executeTest("testPRFailWithLowMaxCycle", spec); + } } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java index 67fe13141..7f41836fa 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/BaseCountsUnitTest.java @@ -47,60 +47,56 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; -// the imports for unit testing. - - import org.broadinstitute.sting.BaseTest; import org.testng.Assert; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; import java.util.ArrayList; +import java.util.Arrays; import java.util.List; /** * Basic unit test for BaseCounts in reduced reads */ public class BaseCountsUnitTest extends BaseTest { - private class SingleTest { + + private class BaseCountsTest { public String bases; public byte mostCountBase; public int mostCommonCount; - private SingleTest(String bases, char mostCountBase, int mostCommonCount) { + private BaseCountsTest(String bases, char mostCountBase, int mostCommonCount) { this.mostCommonCount = mostCommonCount; this.mostCountBase = (byte)mostCountBase; this.bases = bases; } } + @DataProvider(name = "counting") + public Object[][] createCountingData() { + List params = new ArrayList(); - @DataProvider(name = "data") - public Object[][] createData1() { - List params = new ArrayList(); - - params.add(new SingleTest("A", 'A', 1 )); - params.add(new SingleTest("AA", 'A', 2 )); - params.add(new SingleTest("AC", 'A', 1 )); - params.add(new SingleTest("AAC", 'A', 2 )); - params.add(new SingleTest("AAA", 'A', 3 )); - params.add(new SingleTest("AAAN", 'A', 3 )); - params.add(new SingleTest("AAANNNN", 'N', 4 )); - params.add(new SingleTest("AACTG", 'A', 2 )); - params.add(new SingleTest("D", 'D', 1 )); - params.add(new SingleTest("DDAAD", 'D', 3)); - params.add(new SingleTest("", (char)BaseCounts.MAX_BASE_WITH_NO_COUNTS, 0 )); - params.add(new SingleTest("AAIIIAI", 'I', 4 )); + params.add(new BaseCountsTest("A", 'A', 1 )); + params.add(new BaseCountsTest("AA", 'A', 2 )); + params.add(new BaseCountsTest("AC", 'A', 1 )); + params.add(new BaseCountsTest("AAC", 'A', 2 )); + params.add(new BaseCountsTest("AAA", 'A', 3 )); + params.add(new BaseCountsTest("AAAN", 'A', 3 )); + params.add(new BaseCountsTest("AAANNNN", 'N', 4 )); + params.add(new BaseCountsTest("AACTG", 'A', 2 )); + params.add(new BaseCountsTest("D", 'D', 1 )); + params.add(new BaseCountsTest("DDAAD", 'D', 3)); + params.add(new BaseCountsTest("", (char)BaseCounts.MAX_BASE_WITH_NO_COUNTS, 0 )); + params.add(new BaseCountsTest("AAIIIAI", 'I', 4 )); List params2 = new ArrayList(); - for ( SingleTest x : params ) params2.add(new Object[]{x}); + for ( BaseCountsTest x : params ) params2.add(new Object[]{x}); return params2.toArray(new Object[][]{}); } - - - @Test(dataProvider = "data", enabled = true) - public void testCounting(SingleTest params) { + @Test(dataProvider = "counting", enabled = true) + public void testCounting(BaseCountsTest params) { BaseCounts counts = new BaseCounts(); for ( byte base : params.bases.getBytes() ) @@ -110,5 +106,96 @@ public class BaseCountsUnitTest extends BaseTest { Assert.assertEquals(counts.totalCount(), params.bases.length(), name); Assert.assertEquals(counts.countOfBase(counts.baseIndexWithMostCounts()), params.mostCommonCount, name); Assert.assertEquals((char)counts.baseWithMostCounts(), (char)params.mostCountBase, name); + + // test the static creation + final int[] countsArray = new int[] { counts.countOfBase(BaseIndex.A), counts.countOfBase(BaseIndex.C), + counts.countOfBase(BaseIndex.G), counts.countOfBase(BaseIndex.T)}; + final BaseCounts countsFromArray = BaseCounts.createWithCounts(countsArray); + Assert.assertEquals(counts.countOfBase(BaseIndex.A), countsFromArray.countOfBase(BaseIndex.A)); + Assert.assertEquals(counts.countOfBase(BaseIndex.C), countsFromArray.countOfBase(BaseIndex.C)); + Assert.assertEquals(counts.countOfBase(BaseIndex.G), countsFromArray.countOfBase(BaseIndex.G)); + Assert.assertEquals(counts.countOfBase(BaseIndex.T), countsFromArray.countOfBase(BaseIndex.T)); + Assert.assertEquals(ACGTcounts(counts), countsFromArray.totalCount()); + + // test addition + counts.add(countsFromArray); + Assert.assertEquals(counts.countOfBase(BaseIndex.A), 2 * countsFromArray.countOfBase(BaseIndex.A)); + Assert.assertEquals(counts.countOfBase(BaseIndex.C), 2 * countsFromArray.countOfBase(BaseIndex.C)); + Assert.assertEquals(counts.countOfBase(BaseIndex.G), 2 * countsFromArray.countOfBase(BaseIndex.G)); + Assert.assertEquals(counts.countOfBase(BaseIndex.T), 2 * countsFromArray.countOfBase(BaseIndex.T)); + Assert.assertEquals(ACGTcounts(counts), 2 * countsFromArray.totalCount()); + + // test subtraction + counts.sub(countsFromArray); + Assert.assertEquals(counts.countOfBase(BaseIndex.A), countsFromArray.countOfBase(BaseIndex.A)); + Assert.assertEquals(counts.countOfBase(BaseIndex.C), countsFromArray.countOfBase(BaseIndex.C)); + Assert.assertEquals(counts.countOfBase(BaseIndex.G), countsFromArray.countOfBase(BaseIndex.G)); + Assert.assertEquals(counts.countOfBase(BaseIndex.T), countsFromArray.countOfBase(BaseIndex.T)); + Assert.assertEquals(ACGTcounts(counts), countsFromArray.totalCount()); + + // test decrementing + if ( counts.countOfBase(BaseIndex.A) > 0 ) { + counts.decr((byte)'A'); + Assert.assertEquals(counts.countOfBase(BaseIndex.A), countsFromArray.countOfBase(BaseIndex.A) - 1); + } + } + + private static int ACGTcounts(final BaseCounts baseCounts) { + return baseCounts.totalCountWithoutIndels() - baseCounts.countOfBase(BaseIndex.N); + } + + + ////////////////////////////////// + // TEST FOR QUALS IN BASECOUNTS // + ////////////////////////////////// + + private class BaseCountsQualsTest { + public final List quals; + + private BaseCountsQualsTest(final List quals) { + this.quals = quals; + } + } + + @DataProvider(name = "quals") + public Object[][] createQualsData() { + List tests = new ArrayList(); + + final int[] quals = new int[]{ 0, 5, 10, 15, 20, 30, 40, 50 }; + + for ( final int qual1 : quals ) { + for ( final int qual2 : quals ) { + for ( final int qual3 : quals ) { + tests.add(new Object[]{new BaseCountsQualsTest(Arrays.asList(qual1, qual2, qual3))}); + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "quals", enabled = true) + public void testQuals(BaseCountsQualsTest test) { + BaseCounts counts = new BaseCounts(); + + for ( int qual : test.quals ) + counts.incr(BaseIndex.A, (byte)qual); + + final int actualSum = (int)counts.getSumQuals((byte)'A'); + final int expectedSum = qualSum(test.quals); + Assert.assertEquals(actualSum, expectedSum); + + final int actualAverage = (int)counts.averageQuals((byte)'A'); + Assert.assertEquals(actualAverage, expectedSum / test.quals.size()); + + // test both proportion methods + Assert.assertEquals(counts.baseCountProportion(BaseIndex.A), counts.baseCountProportion((byte)'A')); + } + + private static int qualSum(final List quals) { + int sum = 0; + for ( final int qual : quals ) + sum += qual; + return sum; } } \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElementUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElementUnitTest.java index b6af954a0..c48c7cdc7 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElementUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/HeaderElementUnitTest.java @@ -131,4 +131,69 @@ public class HeaderElementUnitTest extends BaseTest { Assert.assertFalse(headerElement.isVariantFromMismatches(0.05)); Assert.assertEquals(headerElement.isVariant(0.05, 0.05), test.isClip); } + + + private class AllelesTest { + public final int[] counts; + public final double proportion; + + private AllelesTest(final int[] counts, final double proportion) { + this.counts = counts; + this.proportion = proportion; + } + } + + @DataProvider(name = "alleles") + public Object[][] createAllelesData() { + List tests = new ArrayList(); + + final int[] counts = new int[]{ 0, 5, 10, 15, 20 }; + final double [] proportions = new double[]{ 0.0, 0.05, 0.10, 0.50, 1.0 }; + + for ( final int count1 : counts ) { + for ( final int count2 : counts ) { + for ( final int count3 : counts ) { + for ( final int count4 : counts ) { + for ( final double proportion : proportions ) { + tests.add(new Object[]{new AllelesTest(new int[]{count1, count2, count3, count4}, proportion)}); + } + } + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "alleles", enabled = true) + public void testAlleles(AllelesTest test) { + + HeaderElement headerElement = new HeaderElement(1000, 0); + for ( int i = 0; i < test.counts.length; i++ ) { + BaseIndex base = BaseIndex.values()[i]; + for ( int j = 0; j < test.counts[i]; j++ ) + headerElement.addBase(base.b, byte20, byte10, byte10, byte20, minBaseQual, minMappingQual, false); + } + + final int nAllelesSeen = headerElement.getNumberOfAlleles(test.proportion); + final int nAllelesExpected = calculateExpectedAlleles(test.counts, test.proportion); + + Assert.assertEquals(nAllelesSeen, nAllelesExpected); + } + + private static int calculateExpectedAlleles(final int[] counts, final double proportion) { + double total = 0.0; + for ( final int count : counts ) { + total += count; + } + + final int minCount = (int)(proportion * total); + + int result = 0; + for ( final int count : counts ) { + if ( count > 0 && count >= minCount ) + result++; + } + return result; + } } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java index 85d6844d3..970829162 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsIntegrationTest.java @@ -74,40 +74,40 @@ public class ReduceReadsIntegrationTest extends WalkerTest { @Test(enabled = true) public void testDefaultCompression() { - RRTest("testDefaultCompression ", L, "98080d3c53f441564796fc143cf510da"); + RRTest("testDefaultCompression ", L, "17908e8515217c4693d303ed68108ccc"); } @Test(enabled = true) public void testInsertionsAtEdgeOfConsensus() { String base = String.format("-T ReduceReads -npt -R %s -I %s ", REF, INSERTIONS_AT_EDGE_OF_CONSENSUS_BAM) + " -o %s "; - executeTest("testInsertionsAtEdgeOfConsensus", new WalkerTestSpec(base, Arrays.asList("2a6e08a0206bd8ec7671224c4a55dae0"))); + executeTest("testInsertionsAtEdgeOfConsensus", new WalkerTestSpec(base, Arrays.asList("3103667fc68c3136a8cfa8e22429f94e"))); } @Test(enabled = true) public void testMultipleIntervals() { String intervals = "-L 20:10,100,000-10,100,500 -L 20:10,200,000-10,200,500 -L 20:10,300,000-10,300,500 -L 20:10,400,000-10,500,000 -L 20:10,500,050-10,500,060 -L 20:10,600,000-10,600,015 -L 20:10,700,000-10,700,110"; - RRTest("testMultipleIntervals ", intervals, "c5dcdf4edf368b5b897d66f76034d9f0"); + RRTest("testMultipleIntervals ", intervals, "497c5e36c2beaad2fcdbd02a0b9c121b"); } @Test(enabled = true) public void testHighCompression() { - RRTest("testHighCompression ", " -cs 10 -minvar 0.3 -mindel 0.3 " + L, "27cb99e87eda5e46187e56f50dd37f26"); + RRTest("testHighCompression ", " -cs 10 -minvar 0.3 -mindel 0.3 " + L, "0ff4142e4d7b6a9a9c76012246ad9e2d"); } @Test(enabled = true) public void testLowCompression() { - RRTest("testLowCompression ", " -cs 30 -minvar 0.01 -mindel 0.01 -minmap 5 -minqual 5 " + L, "4e7f111688d49973c35669855b7a2eaf"); + RRTest("testLowCompression ", " -cs 30 -minvar 0.01 -mindel 0.01 -minmap 5 -minqual 5 " + L, "7890a37444a0e05b902f63a83238ce37"); } @Test(enabled = true) public void testIndelCompression() { - RRTest("testIndelCompression ", " -cs 50 -L 20:10,100,500-10,100,600 ", "f6c9ea83608f35f113cf1f62a77ee6d0"); + RRTest("testIndelCompression ", " -cs 50 -L 20:10,100,500-10,100,600 ", "f58ae2154e0e5716be0e850b7605856e"); } @Test(enabled = true) public void testFilteredDeletionCompression() { String base = String.format("-T ReduceReads -npt -R %s -I %s ", REF, DELETION_BAM) + " -o %s "; - executeTest("testFilteredDeletionCompression", new WalkerTestSpec(base, Arrays.asList("122e4e60c4412a31d0aeb3cce879e841"))); + executeTest("testFilteredDeletionCompression", new WalkerTestSpec(base, Arrays.asList("bfe0693aea74634f1035a9bd11302517"))); } /** @@ -121,7 +121,7 @@ public class ReduceReadsIntegrationTest extends WalkerTest { @Test(enabled = true) public void testAddingReadAfterTailingTheStash() { String base = String.format("-T ReduceReads %s -npt -R %s -I %s", STASH_L, REF, STASH_BAM) + " -o %s "; - executeTest("testAddingReadAfterTailingTheStash", new WalkerTestSpec(base, Arrays.asList("647b0f0f95730de8e6bc4f74186ad4df"))); + executeTest("testAddingReadAfterTailingTheStash", new WalkerTestSpec(base, Arrays.asList("f118e83c394d21d901a24230379864fc"))); } /** @@ -131,13 +131,13 @@ public class ReduceReadsIntegrationTest extends WalkerTest { @Test(enabled = true) public void testDivideByZero() { String base = String.format("-T ReduceReads %s -npt -R %s -I %s", DIVIDEBYZERO_L, REF, DIVIDEBYZERO_BAM) + " -o %s "; - executeTest("testDivideByZero", new WalkerTestSpec(base, Arrays.asList("2c87985972dd43ee9dd50b463d93a511"))); + executeTest("testDivideByZero", new WalkerTestSpec(base, Arrays.asList("bd5198a3e21034887b741faaaa3964bf"))); } @Test(enabled = true) public void testCoReduction() { String base = String.format("-T ReduceReads %s -npt -R %s -I %s -I %s", COREDUCTION_L, REF, COREDUCTION_BAM_A, COREDUCTION_BAM_B) + " -o %s "; - executeTest("testCoReduction", new WalkerTestSpec(base, Arrays.asList("5c30fde961a1357bf72c15144c01981b"))); + executeTest("testCoReduction", new WalkerTestSpec(base, Arrays.asList("13c44a9afa92ae728bf55b7075cc5de3"))); } /** @@ -147,7 +147,7 @@ public class ReduceReadsIntegrationTest extends WalkerTest { @Test(enabled = true) public void testReadOffContig() { String base = String.format("-T ReduceReads -npt -R %s -I %s ", REF, OFFCONTIG_BAM) + " -o %s "; - executeTest("testReadOffContig", new WalkerTestSpec(base, Arrays.asList("2f17c1a78e9d0138217fdb83cede8f68"))); + executeTest("testReadOffContig", new WalkerTestSpec(base, Arrays.asList("922be8b1151dd0d92602af93b77f7a51"))); } } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsUnitTest.java new file mode 100644 index 000000000..b9399bb1b --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/ReduceReadsUnitTest.java @@ -0,0 +1,111 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. 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BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.compression.reducereads; + +import it.unimi.dsi.fastutil.objects.Object2LongOpenHashMap; +import it.unimi.dsi.fastutil.objects.ObjectArrayList; +import it.unimi.dsi.fastutil.objects.ObjectOpenHashSet; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.Random; + + +public class ReduceReadsUnitTest extends BaseTest { + + Random random = new Random(987743); + Object2LongOpenHashMap hash = new Object2LongOpenHashMap(); + long nextNumber = 0L; + + /** + * Combinatorial unit test data provider example. + * + * Creates data for testMyData test function, containing two arguments, start and size at each value + * + * @return Object[][] for testng DataProvider + */ + @DataProvider(name = "ReadNameProvider") + public Object[][] readNameProvider() { + final int readNameLength = 4; + final int nReads = 100000; + final int charVariety = 20; + ObjectArrayList tests = new ObjectArrayList(); + ObjectOpenHashSet truthSet = new ObjectOpenHashSet(); + byte[] bytes = new byte[readNameLength]; + for ( int i = 0; i basicReads = new ArrayList(20); + private final ObjectList basicReads = new ObjectArrayList(20); private IndexedFastaSequenceFile seq; private SAMFileHeader header; @@ -242,40 +247,67 @@ public class SlidingWindowUnitTest extends BaseTest { read.setReadBases(Utils.dupBytes((byte) 'A', readLength)); read.setBaseQualities(Utils.dupBytes((byte)30, readLength)); read.setMappingQuality(30); + read.setReadNegativeStrandFlag(i % 40 == 20); basicReads.add(read); } } private class ConsensusCreationTest { - public final int expectedNumberOfReads; + public final int expectedNumberOfReads, expectedNumberOfReadsWithHetCompression; public final List myReads = new ArrayList(20); - private ConsensusCreationTest(final List locs, final boolean readsShouldBeLowQuality, final boolean variantBaseShouldBeLowQuality, final int expectedNumberOfReads) { + private ConsensusCreationTest(final List locs, final boolean readsShouldBeLowQuality, final boolean variantBaseShouldBeLowQuality, final int expectedNumberOfReads, final int expectedNumberOfReadsWithHetCompression) { this.expectedNumberOfReads = expectedNumberOfReads; + this.expectedNumberOfReadsWithHetCompression = expectedNumberOfReadsWithHetCompression; // first, add the basic reads to the collection myReads.addAll(basicReads); // then add the permuted reads for ( final GenomeLoc loc : locs ) - myReads.add(createVariantRead(loc, readsShouldBeLowQuality, variantBaseShouldBeLowQuality)); + myReads.add(createVariantRead(loc, readsShouldBeLowQuality, variantBaseShouldBeLowQuality, CigarOperator.M)); } - private GATKSAMRecord createVariantRead(final GenomeLoc loc, final boolean readShouldBeLowQuality, final boolean variantBaseShouldBeLowQuality) { + private ConsensusCreationTest(final List locs, final CigarOperator operator, final int expectedNumberOfReads, final int expectedNumberOfReadsWithHetCompression) { + this.expectedNumberOfReads = expectedNumberOfReads; + this.expectedNumberOfReadsWithHetCompression = expectedNumberOfReadsWithHetCompression; + + // first, add the basic reads to the collection + myReads.addAll(basicReads); + + // then add the permuted reads + for ( final GenomeLoc loc : locs ) + myReads.add(createVariantRead(loc, false, false, operator)); + } + + private GATKSAMRecord createVariantRead(final GenomeLoc loc, final boolean readShouldBeLowQuality, + final boolean variantBaseShouldBeLowQuality, final CigarOperator operator) { final int startPos = loc.getStart() - 50; final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead" + startPos, 0, startPos, readLength); + final byte[] bases = Utils.dupBytes((byte) 'A', readLength); - // create a mismatch - bases[50] = 'C'; + // create a mismatch if requested + if ( operator == CigarOperator.M ) + bases[50] = 'C'; read.setReadBases(bases); + final byte[] baseQuals = Utils.dupBytes((byte) 30, readLength); if ( variantBaseShouldBeLowQuality ) baseQuals[50] = (byte)10; read.setBaseQualities(baseQuals); final byte mappingQual = readShouldBeLowQuality ? (byte)10 : (byte)30; read.setMappingQuality(mappingQual); + + if ( operator != CigarOperator.M ) { + final List elements = new ArrayList(3); + elements.add(new CigarElement(operator == CigarOperator.D ? 50 : 51, CigarOperator.M)); + elements.add(new CigarElement(1, operator)); + elements.add(new CigarElement(operator == CigarOperator.D ? 50 : 48, CigarOperator.M)); + read.setCigar(new Cigar(elements)); + } + return read; } } @@ -291,41 +323,61 @@ public class SlidingWindowUnitTest extends BaseTest { List tests = new ArrayList(); // test high quality reads and bases - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(), false, false, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), false, false, 9)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), false, false, 10)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), false, false, 10)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), false, false, 11)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(), false, false, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), false, false, 9, 5)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), false, false, 10, 10)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), false, false, 10, 10)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), false, false, 11, 11)}); // test low quality reads - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(), true, false, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), true, false, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), true, false, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), true, false, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), true, false, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(), true, false, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), true, false, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), true, false, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), true, false, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), true, false, 1, 1)}); // test low quality bases - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(), false, true, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), false, true, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), false, true, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), false, true, 1)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), false, true, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(), false, true, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), false, true, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), false, true, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), false, true, 1, 1)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), false, true, 1, 1)}); // test mixture - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc1100), true, false, 2)}); - tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc1100), false, true, 3)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc1100), true, false, 2, 2)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc1100), false, true, 3, 3)}); + + // test I/D operators + // TODO -- uncomment this test when the deletion bug is fixed! + // tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), CigarOperator.D, 9, 5)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), CigarOperator.D, 10, 10)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), CigarOperator.D, 10, 10)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), CigarOperator.D, 11, 11)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290), CigarOperator.I, 9, 9)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc295), CigarOperator.I, 10, 10)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc309), CigarOperator.I, 10, 10)}); + tests.add(new Object[]{new ConsensusCreationTest(Arrays.asList(loc290, loc310), CigarOperator.I, 11, 11)}); return tests.toArray(new Object[][]{}); } @Test(dataProvider = "ConsensusCreation", enabled = true) public void testConsensusCreationTest(ConsensusCreationTest test) { - final SlidingWindow slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, 20, 20, 100, ReduceReads.DownsampleStrategy.Normal, false, 1, false); + // test WITHOUT het compression allowed + SlidingWindow slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, 20, 20, 100, ReduceReads.DownsampleStrategy.Normal, false, false); for ( final GATKSAMRecord read : test.myReads ) slidingWindow.addRead(read); - final Pair, CompressionStash> result = slidingWindow.close(); + Pair, CompressionStash> result = slidingWindow.close(); Assert.assertEquals(result.getFirst().size(), test.expectedNumberOfReads); + + // test WITH het compression allowed + slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, 20, 20, 100, ReduceReads.DownsampleStrategy.Normal, false, true); + for ( final GATKSAMRecord read : test.myReads ) + slidingWindow.addRead(read); + result = slidingWindow.close(); + + Assert.assertEquals(result.getFirst().size(), test.expectedNumberOfReadsWithHetCompression); } @@ -353,8 +405,8 @@ public class SlidingWindowUnitTest extends BaseTest { @Test(dataProvider = "Downsampling", enabled = true) public void testDownsamplingTest(DSTest test) { - final SlidingWindow slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, 20, 20, test.dcov, ReduceReads.DownsampleStrategy.Normal, false, 1, false); - final List result = slidingWindow.downsampleVariantRegion(basicReads); + final SlidingWindow slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, 20, 20, test.dcov, ReduceReads.DownsampleStrategy.Normal, false, false); + final ObjectList result = slidingWindow.downsampleVariantRegion(basicReads); Assert.assertEquals(result.size(), Math.min(test.dcov, basicReads.size())); } @@ -401,10 +453,10 @@ public class SlidingWindowUnitTest extends BaseTest { @Test(dataProvider = "ConsensusQuals", enabled = true) public void testConsensusQualsTest(QualsTest test) { - final SlidingWindow slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, minUsableConsensusQual, 20, 100, ReduceReads.DownsampleStrategy.Normal, false, 1, false); + final SlidingWindow slidingWindow = new SlidingWindow("1", 0, 10, header, new GATKSAMReadGroupRecord("test"), 0, 0.05, 0.05, minUsableConsensusQual, 20, 100, ReduceReads.DownsampleStrategy.Normal, false, false); for ( final GATKSAMRecord read : test.myReads ) slidingWindow.addRead(read); - final Pair, CompressionStash> result = slidingWindow.close(); + final Pair, CompressionStash> result = slidingWindow.close(); Assert.assertEquals(result.getFirst().size(), 1); final GATKSAMRecord read = result.getFirst().iterator().next(); diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java index c94130d18..1ed28dec2 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/compression/reducereads/SyntheticReadUnitTest.java @@ -46,6 +46,8 @@ package org.broadinstitute.sting.gatk.walkers.compression.reducereads; +import it.unimi.dsi.fastutil.bytes.ByteArrayList; +import it.unimi.dsi.fastutil.objects.ObjectArrayList; import net.sf.samtools.SAMFileHeader; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; @@ -54,9 +56,6 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.testng.Assert; import org.testng.annotations.Test; -import java.util.Arrays; -import java.util.Random; - public class SyntheticReadUnitTest extends BaseTest { final SAMFileHeader artificialSAMHeader = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1); final GATKSAMReadGroupRecord artificialGATKRG = new GATKSAMReadGroupRecord("synthetic"); @@ -66,35 +65,32 @@ public class SyntheticReadUnitTest extends BaseTest { final int artificialRefStart = 1; final double artificialMappingQuality = 60; - final Random random = new Random(8854875); - - @Test public void testBaseCounts() { BaseIndex [] bases = new BaseIndex[] {BaseIndex.A,BaseIndex.A,BaseIndex.A,BaseIndex.A}; - Byte[] quals = new Byte[] {20, 20, 20, 20 }; + byte[] quals = new byte[] {20, 20, 20, 20 }; TestRead [] testReads = new TestRead [] { - new TestRead(bases, quals, new Byte[] {100, 100, 100, 101}, new byte [] {100, 0, 0, 1}), - new TestRead(bases, quals, new Byte[] {1, 100, 100, 0}, new byte [] {1, 99, 99, -1}), - new TestRead(bases, quals, new Byte[] {127, 100, 0, 1}, new byte [] {127, -27, -127, -126}), - new TestRead(bases, quals, new Byte[] {1, 127, 51, 126}, new byte [] {1, 126, 50, 125})}; + new TestRead(bases, quals, new byte[] {100, 100, 100, 101}, new byte [] {100, 0, 0, 1}), + new TestRead(bases, quals, new byte[] {1, 100, 100, 0}, new byte [] {1, 99, 99, -1}), + new TestRead(bases, quals, new byte[] {127, 100, 0, 1}, new byte [] {127, -27, -127, -126}), + new TestRead(bases, quals, new byte[] {1, 127, 51, 126}, new byte [] {1, 126, 50, 125})}; for (TestRead testRead : testReads) { - SyntheticRead syntheticRead = new SyntheticRead(Arrays.asList(testRead.getBases()), Arrays.asList(testRead.getCounts()), Arrays.asList(testRead.getQuals()), Arrays.asList(testRead.getInsQuals()), Arrays.asList(testRead.getDelQuals()), artificialMappingQuality, GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, artificialSAMHeader, artificialGATKRG, artificialContig, artificialContigIndex, artificialReadName, artificialRefStart, false, false); + SyntheticRead syntheticRead = new SyntheticRead(new ObjectArrayList(testRead.getBases()), new ByteArrayList(testRead.getCounts()), new ByteArrayList(testRead.getQuals()), new ByteArrayList(testRead.getInsQuals()), new ByteArrayList(testRead.getDelQuals()), artificialMappingQuality, GATKSAMRecord.REDUCED_READ_CONSENSUS_TAG, artificialSAMHeader, artificialGATKRG, artificialContig, artificialContigIndex, artificialReadName, artificialRefStart, false, false); Assert.assertEquals(syntheticRead.convertBaseCounts(), testRead.getExpectedCounts()); } } private class TestRead { BaseIndex[] bases; - Byte[] quals; - Byte[] insQuals; - Byte[] delQuals; - Byte[] counts; - byte [] expectedCounts; + byte[] quals; + byte[] insQuals; + byte[] delQuals; + byte[] counts; + byte[] expectedCounts; - private TestRead(BaseIndex[] bases, Byte[] quals, Byte[] counts, byte[] expectedCounts) { + private TestRead(BaseIndex[] bases, byte[] quals, byte[] counts, byte[] expectedCounts) { this.bases = bases; this.quals = quals; this.insQuals = quals; @@ -107,19 +103,19 @@ private class TestRead { return bases; } - public Byte[] getQuals() { + public byte[] getQuals() { return quals; } - public Byte[] getInsQuals() { + public byte[] getInsQuals() { return insQuals; } - public Byte[] getDelQuals() { + public byte[] getDelQuals() { return delQuals; } - public Byte[] getCounts() { + public byte[] getCounts() { return counts; } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistributionIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistributionIntegrationTest.java new file mode 100644 index 000000000..53153c100 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/diagnostics/targets/BaseCoverageDistributionIntegrationTest.java @@ -0,0 +1,90 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. 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BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.diagnostics.targets; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.Arrays; + +/** + * @author Mauricio Carneiro + * @since 2/6/13 + */ +public class BaseCoverageDistributionIntegrationTest extends WalkerTest { + final static String REF = hg18Reference; + final String bam = validationDataLocation + "small_bam_for_countloci.withRG.bam"; + + @DataProvider(name = "BasicArguments") + public Object[][] basicArgumentsDataProvider() { + return new Object[][] { + // Tests simple counting on one interval with everything in the same contig including tallying of uncovered bases. + {"testSingleInterval ", "-L chr1:90000-100000", "45368696dc008d1a07fb2b05fbafd1f4"}, + // Tests specially the tallying of uncovered bases across multiple intervals. Makes sure it's only adding the bases present in the intervals requested. + {"testMultipleIntervals ", "-L chr1:10-20 -L chr1:40-100 -L chr1:10,000-11,000 -L chr1:40,000-60,000 -L chr1:76,000-99,000 ", "45dafe59e5e54451b88c914d6ecbddc6"}, + // Tests adding the entire genome around every covered base as uncovered. Especially tests the tally in the beginning and end of the run, adding up all chromosomes not visited (this test file only has reads on chr1). + {"testNoIntervals ", "", "c399f780f0b7da6be2614d837c368d1c"}, + + // the following three tests are equivalent but now include the filtered distribution option. These tests are aimed at the filtered distribution output. + {"testFilteredSingleInterval ", "-fd -L chr1:90000-100000", "7017cf191bf54e85111972a882e1d5fa"}, + {"testFilteredMultipleIntervals ", "-fd -L chr1:10-20 -L chr1:40-100 -L chr1:10,000-11,000 -L chr1:40,000-60,000 -L chr1:76,000-99,000 ", "75d11cc02210676d6c19939fb0b9ab2e"}, + {"testFilteredNoIntervals ", "-fd ", "e7abfa6c7be493de4557a64f66688148"}, + }; + } + + @Test(dataProvider = "BasicArguments", enabled = true) + private void BaseCoverageDistributionTest(String testName, String args, String md5) { + String base = String.format("-T BaseCoverageDistribution -R %s -I %s ", REF, bam) + " -o %s "; + WalkerTestSpec spec = new WalkerTestSpec(base + args, Arrays.asList(md5)); + executeTest(testName, spec); + } + + + + +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/BiasedDownsamplingIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/BiasedDownsamplingIntegrationTest.java new file mode 100644 index 000000000..77c9f96c9 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/BiasedDownsamplingIntegrationTest.java @@ -0,0 +1,299 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.testng.annotations.Test; + +import java.util.Arrays; +import java.util.Random; + +public class BiasedDownsamplingIntegrationTest extends WalkerTest { + + private final static String baseCommand1 = "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; + private final static String baseCommand2 = "-T UnifiedGenotyper -R " + hg19Reference + " --no_cmdline_in_header -glm BOTH -L 20:1,000,000-5,000,000"; + private final static String baseCommand3 = "-T UnifiedGenotyper -R " + hg19Reference + " --no_cmdline_in_header -glm BOTH -L 20:4,000,000-5,000,000"; + private final String ArtificalBAMLocation = privateTestDir + "ArtificallyContaminatedBams/"; + + // -------------------------------------------------------------------------------------------------------------- + // + // testing UnifiedGenotyper contamination down-sampling + // + // -------------------------------------------------------------------------------------------------------------- + + @Test(enabled = false) + public void testContaminationDownsamplingFlat() { + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand1 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -contamination 0.20", 1, + Arrays.asList("1f9071466fc40f4c6a0f58ac8e9135fb")); + executeTest("test contamination_percentage_to_filter 0.20", spec); + } + + @Test(enabled = false) + public void testContaminationDownsamplingFlatAndPerSample() { + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand1 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 --contamination_fraction_per_sample_file " + ArtificalBAMLocation + "NA12878.NA19240.contam.txt --contamination_fraction_to_filter 0.10", 1, + Arrays.asList("53395814dd6990448a01a294ccd69bd2")); + executeTest("test contamination_percentage_to_filter per-sample and .20 overall", spec); + } + + @Test(enabled = false) + public void testContaminationDownsamplingPerSampleOnly() { + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand1 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -contaminationFile " + ArtificalBAMLocation + "NA19240.contam.txt", 1, + Arrays.asList("4af83a883ecc03a23b0aa6dd4b8f1ceb")); + executeTest("test contamination_percentage_to_filter per-sample", spec); + } + + + // -------------------------------------------------------------------------------------------------------------- + // + // testing UnifiedGenotyper contamination down-sampling on BAMs with artificially created contaminated. + // + // -------------------------------------------------------------------------------------------------------------- + + @Test(enabled = false) + private void testDefaultContamination() { + final String bam1 = "NA11918.with.1.NA12842.reduced.bam"; + final String bam2 = "NA12842.with.1.NA11918.reduced.bam"; + + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand2 + " -I " + ArtificalBAMLocation + bam1 + " -I " + ArtificalBAMLocation + bam2 + " -o %s ", 1, + Arrays.asList("e2e5a8dd313f8d7e382e7d49dfac59a2")); + executeTest("test contamination on Artificial Contamination (flat) on " + bam1 + " and " + bam2 + " with default downsampling.", spec); + } + + private void testFlatContamination(final String bam1, final String bam2, final Double downsampling, final String md5) { + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand2 + " -I " + ArtificalBAMLocation + bam1 + " -I " + ArtificalBAMLocation + bam2 + " -o %s -contamination " + downsampling.toString(), 1, + Arrays.asList(md5)); + executeTest("test contamination on Artificial Contamination (flat) on " + bam1 + " and " + bam2 + " downsampling " + downsampling.toString(), spec); + } + + @Test(enabled = false) + public void testFlatContaminationCase1() { + testFlatContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.05, "e2e5a8dd313f8d7e382e7d49dfac59a2"); + } + + @Test(enabled = false) + public void testFlatContaminationCase2() { + testFlatContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.1, "549737002f98775fea8f46e7ea174dde"); + } + + @Test(enabled = false) + public void testFlatContaminationCase3() { + testFlatContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.2, "529d82c2a33fcc303a5dc55de2d56979"); + } + + @Test(enabled = false) + public void testFlatContaminationCase4() { + testFlatContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.2.NA11918.reduced.bam", 0.1, "b5689972fbb7d230a372ee5f0da1c6d7"); + } + + @Test(enabled = false) + public void testFlatContaminationCase5() { + testFlatContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.2.NA11918.reduced.bam", 0.2, "9dceee2e921b53fbc1ce137a7e0b7b74"); + } + + @Test(enabled = false) + public void testFlatContaminationCase6() { + testFlatContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.2.NA11918.reduced.bam", 0.3, "d6a74061033503af80dcaea065bfa075"); + } + + @Test(enabled = false) + public void testFlatContaminationCase7() { + testFlatContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.1, "7d1b5efab58a1b8f9d99fcf5af82f15a"); + } + + @Test(enabled = false) + public void testFlatContaminationCase8() { + testFlatContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.2, "a7f8d5c79626aff59d7f426f79d8816e"); + } + + @Test(enabled = false) + public void testFlatContaminationCase9() { + testFlatContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.3, "fcf482398b7c908e3e2d1e4d5da6377b"); + } + + private void testPerSampleContamination(String bam1, String bam2, String persampleFile, final String md5) { + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand2 + " -I " + ArtificalBAMLocation + bam1 + " -I " + ArtificalBAMLocation + bam2 + " -o %s -contaminationFile " + persampleFile, 1, + Arrays.asList(md5)); + executeTest("test contamination on Artificial Contamination (per-sample) on " + bam1 + " and " + bam2 + " with " + persampleFile, spec); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase1() { + testPerSampleContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.1.txt", "e00278527a294833259e9e411728e395"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase2() { + testPerSampleContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.2.txt", "a443e793f0b0e2ffce1b751634d706e2"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase3() { + testPerSampleContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.3.txt", "e11d83a7815ce757afbcf7689568cb25"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase4() { + testPerSampleContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.4.txt", "615042eeeffe042bd1c86279d34f80b6"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase5() { + testPerSampleContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.1.txt", "9bc99fc79ca34744bf26cb19ee4ef44d"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase6() { + testPerSampleContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.2.txt", "143626fe5fce765d6c997a64f058a813"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase7() { + testPerSampleContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.3.txt", "f2593674cef894eda4e0be9cf3158f57"); + } + + @Test(enabled = false) + public void testPerSampleContaminationCase8() { + testPerSampleContamination("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.4.txt", "fb7ce0740767ae3896b3e552026da1e4"); + } + + + private void testPerSampleEqualsFlat(final String bam1, final String bam2, final String persampleFile, final Double downsampling, final String md5) { + final String command = baseCommand3 + " -I " + ArtificalBAMLocation + bam1 + " -I " + ArtificalBAMLocation + bam2 + " -o %s "; + + WalkerTestSpec spec = new WalkerTestSpec( command +" -contaminationFile " + persampleFile, 1, Arrays.asList(md5)); + final Random rnd = GenomeAnalysisEngine.getRandomGenerator(); + + rnd.setSeed(123451); // so that the two test cases have a hope of giving the same result + executeTest("test contamination on Artificial Contamination, with per-sample file on " + bam1 + " and " + bam2 + " with " + persampleFile, spec); + + spec = new WalkerTestSpec(command + "-contamination " + downsampling.toString(), 1, Arrays.asList(md5)); + + rnd.setSeed(123451); // so that the two test cases have a hope of giving the same result + executeTest("test contamination on Artificial Contamination, with flat contamination on " + bam1 + " and " + bam2 + " with " + downsampling.toString(), spec); + + } + + // verify that inputing a file with an effectively flat contamination level is equivalent to handing in a flat contamination level + + @Test(enabled = false) + public void testPerSampleEqualsFlatContaminationCase1() { + testPerSampleEqualsFlat("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.6.txt", 0.0, ""); + } + + @Test(enabled = false) + public void testPerSampleEqualsFlatContaminationCase2() { + testPerSampleEqualsFlat("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.7.txt", 0.15, ""); + } + + @Test(enabled = false) + public void testPerSampleEqualsFlatContaminationCase3() { + testPerSampleEqualsFlat("NA11918.with.2.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", ArtificalBAMLocation + "contamination.case.8.txt", 0.3, ""); + } + + + // -------------------------------------------------------------------------------------------------------------- + // + // testing HaplotypeCaller Contamination Removal + // + // -------------------------------------------------------------------------------------------------------------- + + + @Test(enabled = false) + public void testHCContaminationDownsamplingFlat() { + final String baseCommand = "-T HaplotypeCaller -R " + b36KGReference + " --no_cmdline_in_header --dbsnp " + b36dbSNP129; + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -contamination 0.20", 1, + Arrays.asList("c3a253467ead7b1cfe9fd9dd310828b1")); + executeTest("HC calling with contamination_percentage_to_filter 0.20", spec); + } + + // HaplotypeCaller can only (currently) use flat contamination reduction, not per-sample. Until that is implemented, this test + @Test(enabled = false) + public void testHCCannotProcessPerSampleContamination() { + final String baseCommand = "-T HaplotypeCaller -R " + hg19Reference + " --no_cmdline_in_header -L 20:3,000,000-5,000,000"; + final String bam1 = "NA11918.with.1.NA12842.reduced.bam"; + final String perSampleFile = ArtificalBAMLocation + "contamination.case.1.txt"; + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand + " -I " + ArtificalBAMLocation + bam1 + " -o %s -contaminationFile " + perSampleFile, 1, + UserException.class); + executeTest("HC should fail on per-Sample contamination removal.", spec); + } + + + private void testHCFlatContamination(final String bam1, final String bam2, final Double downsampling, final String md5) { + final String baseCommand = "-T HaplotypeCaller -R " + hg19Reference + " --no_cmdline_in_header -L 20:3,000,000-5,000,000"; + + WalkerTestSpec spec = new WalkerTestSpec( + baseCommand + " -I " + ArtificalBAMLocation + bam1 + " -I " + ArtificalBAMLocation + bam2 + " -o %s -contamination " + downsampling.toString(), 1, + Arrays.asList(md5)); + executeTest("HC test contamination on Artificial Contamination (flat) on " + bam1 + " and " + bam2 + " downsampling " + downsampling.toString(), spec); + } + + @Test(enabled = false) + public void testHCFlatContaminationCase1() { + testHCFlatContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.05, "c3e695381d8627e3922d8c642b66c3ce"); + } + + @Test(enabled = false) + public void testHCFlatContaminationCase2() { + testHCFlatContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.1, "002d2b45336d88d7c04e19f9f26e29d9"); + } + + @Test(enabled = false) + public void testHCFlatContaminationCase3() { + testHCFlatContamination("NA11918.with.1.NA12842.reduced.bam", "NA12842.with.1.NA11918.reduced.bam", 0.2, "1809a33ac112d1a3bd7a071c566794dd"); + } + +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngineUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngineUnitTest.java new file mode 100644 index 000000000..23596db83 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngineUnitTest.java @@ -0,0 +1,105 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + + +// the imports for unit testing. + + +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.gatk.arguments.GATKArgumentCollection; +import org.broadinstitute.sting.utils.MathUtils; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.BeforeMethod; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.*; + +public class UnifiedGenotyperEngineUnitTest extends BaseTest { + private final static double TOLERANCE = 1e-5; + private UnifiedGenotyperEngine ugEngine; + + @BeforeClass + public void setUp() throws Exception { + final GenomeAnalysisEngine engine = new GenomeAnalysisEngine(); + engine.setArguments(new GATKArgumentCollection()); + final UnifiedArgumentCollection args = new UnifiedArgumentCollection(); + final Set fakeSamples = Collections.singleton("fake"); + ugEngine = new UnifiedGenotyperEngine(engine, fakeSamples, args); + } + + private UnifiedGenotyperEngine getEngine() { + return ugEngine; + } + + @DataProvider(name = "ReferenceQualityCalculation") + public Object[][] makeReferenceQualityCalculation() { + List tests = new ArrayList(); + + // this functionality can be adapted to provide input data for whatever you might want in your data + final double p = Math.log10(0.5); + for ( final double theta : Arrays.asList(0.1, 0.01, 0.001) ) { + for ( final int depth : Arrays.asList(0, 1, 2, 10, 100, 1000, 10000) ) { + final double log10PofNonRef = Math.log10(theta / 2.0) + MathUtils.log10BinomialProbability(depth, 0, p); + final double log10POfRef = MathUtils.log10OneMinusX(Math.pow(10.0, log10PofNonRef)); + tests.add(new Object[]{depth, theta, log10POfRef}); + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ReferenceQualityCalculation") + public void testReferenceQualityCalculation(final int depth, final double theta, final double expected) { + final double ref = getEngine().estimateLog10ReferenceConfidenceForOneSample(depth, theta); + Assert.assertTrue(MathUtils.goodLog10Probability(ref), "Reference calculation wasn't a well formed log10 prob " + ref); + Assert.assertEquals(ref, expected, TOLERANCE, "Failed reference confidence for single sample"); + } +} \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidySuite1IntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidySuite1IntegrationTest.java new file mode 100644 index 000000000..ef9f483ff --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidySuite1IntegrationTest.java @@ -0,0 +1,84 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import static org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperGeneralPloidyTestExecutor.*; + +/** + * Created by IntelliJ IDEA. + * User: delangel + * Date: 4/5/12 + * Time: 11:28 AM + * To change this template use File | Settings | File Templates. + */ +public class UnifiedGenotyperGeneralPloidySuite1IntegrationTest extends WalkerTest { + + private final UnifiedGenotyperGeneralPloidyTestExecutor executor = new UnifiedGenotyperGeneralPloidyTestExecutor(); + + @Test(enabled = true) + public void testSNP_ACS_Pools() { + executor.PC_LSV_Test_short(" -maxAltAlleles 1 -ploidy 6 -out_mode EMIT_ALL_CONFIDENT_SITES", "LSV_SNP_ACS", "SNP", "df0e67c975ef74d593f1c704daab1705"); + } + + @Test(enabled = true) + public void testBOTH_GGA_Pools() { + executor.PC_LSV_Test(String.format(" -maxAltAlleles 2 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s", LSV_ALLELES), "LSV_BOTH_GGA", "BOTH", "71f16e19b7d52e8edee46f4121e59f54"); + } + + @Test(enabled = true) + public void testINDEL_GGA_Pools() { + executor.PC_LSV_Test(String.format(" -maxAltAlleles 1 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s", LSV_ALLELES), "LSV_INDEL_GGA", "INDEL", "3f7d763c654f1d708323f369ea4a099b"); + } + + @Test(enabled = true) + public void testINDEL_maxAltAlleles2_ploidy1_Pools_noRef() { + executor.PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 1", "LSV_INDEL_DISC_NOREF_p1", "INDEL", "5812da66811887d834d0379a33e655c0"); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidySuite2IntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidySuite2IntegrationTest.java new file mode 100644 index 000000000..dc9220b7e --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidySuite2IntegrationTest.java @@ -0,0 +1,72 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import static org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperGeneralPloidyTestExecutor.*; + +public class UnifiedGenotyperGeneralPloidySuite2IntegrationTest extends WalkerTest { + + private final UnifiedGenotyperGeneralPloidyTestExecutor executor = new UnifiedGenotyperGeneralPloidyTestExecutor(); + + @Test(enabled = true) + public void testINDEL_maxAltAlleles2_ploidy3_Pools_noRef() { + executor.PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 3","LSV_INDEL_DISC_NOREF_p3","INDEL","3a321896c4b8b6457973c76c486da4d4"); + } + + @Test(enabled = true) + public void testMT_SNP_DISCOVERY_sp4() { + executor.PC_MT_Test(CEUTRIO_BAM, " -maxAltAlleles 1 -ploidy 8", "MT_SNP_DISCOVERY_sp4","3fc6f4d458313616727c60e49c0e852b"); + } + + @Test(enabled = true) + public void testMT_SNP_GGA_sp10() { + executor.PC_MT_Test(CEUTRIO_BAM, String.format(" -maxAltAlleles 1 -ploidy 20 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",NA12891_CALLS), "MT_SNP_GGA_sp10", "1bebbc0f28bff6fd64736ccca8839df8"); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyTestExecutor.java similarity index 76% rename from protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyIntegrationTest.java rename to protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyTestExecutor.java index df870f96f..53d32832b 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyIntegrationTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyTestExecutor.java @@ -47,90 +47,47 @@ package org.broadinstitute.sting.gatk.walkers.genotyper; import org.broadinstitute.sting.WalkerTest; -import org.testng.annotations.Test; import java.util.Arrays; -/** - * Created by IntelliJ IDEA. - * User: delangel - * Date: 4/5/12 - * Time: 11:28 AM - * To change this template use File | Settings | File Templates. - */ -public class UnifiedGenotyperGeneralPloidyIntegrationTest extends WalkerTest { +public class UnifiedGenotyperGeneralPloidyTestExecutor extends WalkerTest { final static String REF = b37KGReference; - final String CEUTRIO_BAM = "/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WGS.b37.list"; - final String LSV_BAM = validationDataLocation +"93pools_NA12878_ref_chr20_40m_41m.bam"; - final String REFSAMPLE_MT_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12878.snp.vcf"; - final String REFSAMPLE_NAME = "NA12878"; - final String MTINTERVALS = "MT:1-1000"; - final String LSVINTERVALS = "20:40,500,000-41,000,000"; - final String LSVINTERVALS_SHORT = "20:40,500,000-40,501,000"; - final String NA12891_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12891.snp.vcf"; - final String NA12878_WG_CALLS = comparisonDataLocation + "Unvalidated/NA12878/CEUTrio.HiSeq.WGS.b37_decoy.recal.ts_95.snp_indel_combined.vcf"; - final String LSV_ALLELES = validationDataLocation + "ALL.chr20_40m_41m.largeScaleValidationSites.vcf"; + final static String CEUTRIO_BAM = "/humgen/gsa-hpprojects/NA12878Collection/bams/CEUTrio.HiSeq.WGS.b37.list"; + final static String LSV_BAM = validationDataLocation +"93pools_NA12878_ref_chr20_40m_41m.bam"; + final static String REFSAMPLE_MT_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12878.snp.vcf"; + final static String REFSAMPLE_NAME = "NA12878"; + final static String MTINTERVALS = "MT:1-1000"; + final static String LSVINTERVALS = "20:40,500,000-41,000,000"; + final static String LSVINTERVALS_SHORT = "20:40,500,000-40,501,000"; + final static String NA12891_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12891.snp.vcf"; + final static String NA12878_WG_CALLS = comparisonDataLocation + "Unvalidated/NA12878/CEUTrio.HiSeq.WGS.b37_decoy.recal.ts_95.snp_indel_combined.vcf"; + final static String LSV_ALLELES = validationDataLocation + "ALL.chr20_40m_41m.largeScaleValidationSites.vcf"; - private void PC_MT_Test(String bam, String args, String name, String md5) { + public void PC_MT_Test(String bam, String args, String name, String md5) { final String base = String.format("-T UnifiedGenotyper -dcov 10000 -R %s -I %s -L %s --reference_sample_calls %s -refsample %s -ignoreLane ", REF, bam, MTINTERVALS, REFSAMPLE_MT_CALLS, REFSAMPLE_NAME) + " --no_cmdline_in_header -o %s"; final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); executeTest("testPoolCaller:"+name+" args=" + args, spec); } - private void PC_LSV_Test(String args, String name, String model, String md5) { + public void PC_LSV_Test(String args, String name, String model, String md5) { final String base = String.format("-T UnifiedGenotyper -dcov 10000 -R %s -I %s -L %s --reference_sample_calls %s -refsample %s -glm %s -ignoreLane ", REF, LSV_BAM, LSVINTERVALS, NA12878_WG_CALLS, REFSAMPLE_NAME, model) + " --no_cmdline_in_header -o %s"; final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); executeTest("testPoolCaller:"+name+" args=" + args, spec); } - private void PC_LSV_Test_short(String args, String name, String model, String md5) { + public void PC_LSV_Test_short(String args, String name, String model, String md5) { final String base = String.format("-T UnifiedGenotyper -dcov 10000 -R %s -I %s -L %s --reference_sample_calls %s -refsample %s -glm %s -ignoreLane ", REF, LSV_BAM, LSVINTERVALS_SHORT, NA12878_WG_CALLS, REFSAMPLE_NAME, model) + " --no_cmdline_in_header -o %s"; final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); executeTest("testPoolCaller:"+name+" args=" + args, spec); } - private void PC_LSV_Test_NoRef(String args, String name, String model, String md5) { + public void PC_LSV_Test_NoRef(String args, String name, String model, String md5) { final String base = String.format("-T UnifiedGenotyper -dcov 10000 -R %s -I %s -L %s -glm %s -ignoreLane", REF, LSV_BAM, LSVINTERVALS, model) + " --no_cmdline_in_header -o %s"; final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); executeTest("testPoolCaller:"+name+" args=" + args, spec); } - - @Test(enabled = true) - public void testSNP_ACS_Pools() { - PC_LSV_Test_short(" -maxAltAlleles 1 -ploidy 6 -out_mode EMIT_ALL_CONFIDENT_SITES","LSV_SNP_ACS","SNP","df0e67c975ef74d593f1c704daab1705"); - } - - @Test(enabled = true) - public void testBOTH_GGA_Pools() { - PC_LSV_Test(String.format(" -maxAltAlleles 2 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",LSV_ALLELES),"LSV_BOTH_GGA","BOTH","d1c113a17e36762d27eb27fd12528e52"); - } - - @Test(enabled = true) - public void testINDEL_GGA_Pools() { - PC_LSV_Test(String.format(" -maxAltAlleles 1 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",LSV_ALLELES),"LSV_INDEL_GGA","INDEL","ab043eed87fadbe5761a55a4912b19ac"); - } - - @Test(enabled = true) - public void testINDEL_maxAltAlleles2_ploidy3_Pools_noRef() { - PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 3","LSV_INDEL_DISC_NOREF_p3","INDEL","95d48e0680019d5406ff9adb8f2ff3ca"); - } - - @Test(enabled = true) - public void testINDEL_maxAltAlleles2_ploidy1_Pools_noRef() { - PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 1","LSV_INDEL_DISC_NOREF_p1","INDEL","8a4ddd64c4e9c42b4a8622582fcfa9c9"); - } - - @Test(enabled = true) - public void testMT_SNP_DISCOVERY_sp4() { - PC_MT_Test(CEUTRIO_BAM, " -maxAltAlleles 1 -ploidy 8", "MT_SNP_DISCOVERY_sp4","3fc6f4d458313616727c60e49c0e852b"); - } - - @Test(enabled = true) - public void testMT_SNP_GGA_sp10() { - PC_MT_Test(CEUTRIO_BAM, String.format(" -maxAltAlleles 1 -ploidy 20 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",NA12891_CALLS), "MT_SNP_GGA_sp10", "1bebbc0f28bff6fd64736ccca8839df8"); - } } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIndelCallingIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIndelCallingIntegrationTest.java new file mode 100644 index 000000000..670666fe2 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIndelCallingIntegrationTest.java @@ -0,0 +1,197 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import java.io.File; +import java.util.Arrays; +import java.util.List; + +public class UnifiedGenotyperIndelCallingIntegrationTest extends WalkerTest { + + private final static String baseCommandIndels = "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm INDEL -mbq 20 -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; + private final static String baseCommandIndelsb37 = "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm INDEL -mbq 20 --dbsnp " + b37dbSNP132; + + // -------------------------------------------------------------------------------------------------------------- + // + // testing indel caller + // + // -------------------------------------------------------------------------------------------------------------- + // Basic indel testing with SLX data + @Test + public void testSimpleIndels() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndels + + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam" + + " -o %s" + + " -L 1:10,000,000-10,500,000", + 1, + Arrays.asList("1cb469b9cc8e6c70430021540bf1af8b")); + + executeTest(String.format("test indel caller in SLX"), spec); + } + + // Basic indel testing with SLX data + @Test + public void testIndelsWithLowMinAlleleCnt() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndels + + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam" + + " -o %s" + + " -minIndelCnt 1" + + " -L 1:10,000,000-10,100,000", + 1, + Arrays.asList("c7e59f9ab718df4c604626a0f51af606")); + + executeTest(String.format("test indel caller in SLX with low min allele count"), spec); + } + + @Test + public void testMultiTechnologyIndels() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndels + + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam" + + " -o %s" + + " -L 1:10,000,000-10,500,000", + 1, + Arrays.asList("4bebbe4ed4a7554285a3b4bb7311101c")); + + executeTest(String.format("test indel calling, multiple technologies"), spec); + } + + @Test + public void testWithIndelAllelesPassedIn1() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, + Arrays.asList("86880ec78755ae91cb5bb34a0631a32c")); + executeTest("test MultiSample Pilot2 indels with alleles passed in", spec); + } + + @Test + public void testWithIndelAllelesPassedIn2() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndels + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, + Arrays.asList("2584d5e3ade1b548f1fe9cdcafbe1b28")); + executeTest("test MultiSample Pilot2 indels with alleles passed in and emitting all sites", spec); + } + + @Test(timeOut = 20*1000*60) // this guy can take a long time because it's two steps, so give it 12 minutes + public void testMultiSampleIndels1() { + // since we're going to test the MD5s with GGA only do one here + WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( + baseCommandIndels + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, + Arrays.asList("")); + List result = executeTest("test MultiSample Pilot1 CEU indels", spec1).getFirst(); + + WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( + baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + result.get(0).getAbsolutePath() + " -I " + validationDataLocation + + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L " + result.get(0).getAbsolutePath(), 1, + Arrays.asList("08b3a85be00c8f6a4fefd3c671463ecf")); + executeTest("test MultiSample Pilot1 CEU indels using GENOTYPE_GIVEN_ALLELES", spec2); + } + + @Test + public void testGGAwithNoEvidenceInReads() { + final String vcf = "small.indel.test.vcf"; + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndelsb37 + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + privateTestDir + vcf + " -I " + validationDataLocation + + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam -o %s -L " + validationDataLocation + vcf, 1, + Arrays.asList("d76eacc4021b78ccc0a9026162e814a7")); + executeTest("test GENOTYPE_GIVEN_ALLELES with no evidence in reads", spec); + } + + @Test + public void testBaseIndelQualityScores() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommandIndelsb37 + + " -I " + privateTestDir + "NA12878.100kb.BQSRv2.example.bam" + + " -o %s" + + " -L 20:10,000,000-10,100,000", + 1, + Arrays.asList("8a7966e4b67334bca6083670c5a16b67")); + + executeTest(String.format("test UG with base indel quality scores"), spec); + } + + // -------------------------------------------------------------------------------------------------------------- + // + // testing MinIndelFraction + // + // -------------------------------------------------------------------------------------------------------------- + + final static String assessMinIndelFraction = baseCommandIndelsb37 + " -I " + validationDataLocation + + "978604.bam -L 1:978,586-978,626 -o %s --sites_only -rf Sample -goodSM 7377 -goodSM 22-0022 -goodSM 134 -goodSM 344029-53 -goodSM 14030"; + + @Test + public void testMinIndelFraction0() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + assessMinIndelFraction + " -minIndelFrac 0.0", 1, + Arrays.asList("556c214366e82e4682e753ce93307a4e")); + executeTest("test minIndelFraction 0.0", spec); + } + + @Test + public void testMinIndelFraction25() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + assessMinIndelFraction + " -minIndelFrac 0.25", 1, + Arrays.asList("1df02b805d9dfbd532fa3632875a989d")); + executeTest("test minIndelFraction 0.25", spec); + } + + @Test + public void testMinIndelFraction100() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + assessMinIndelFraction + " -minIndelFrac 1", 1, + Arrays.asList("3f07efb768e08650a7ce333edd4f9a52")); + executeTest("test minIndelFraction 1.0", spec); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java index 45a42d018..ca965a042 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java @@ -51,10 +51,8 @@ import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.utils.exceptions.UserException; import org.testng.annotations.Test; -import java.io.File; import java.util.Arrays; import java.util.Collections; -import java.util.List; // ********************************************************************************** // // Note that this class also serves as an integration test for the VariantAnnotator! // @@ -63,128 +61,8 @@ import java.util.List; public class UnifiedGenotyperIntegrationTest extends WalkerTest { private final static String baseCommand = "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; - private final static String baseCommandIndels = "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm INDEL -mbq 20 -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; - private final static String baseCommandIndelsb37 = "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm INDEL -mbq 20 --dbsnp " + b37dbSNP132; private final static String baseCommandNoCmdLineHeaderStdout = "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "bamExample.ReducedRead.ADAnnotation.bam"; - // -------------------------------------------------------------------------------------------------------------- - // - // testing normal calling - // - // -------------------------------------------------------------------------------------------------------------- - @Test - public void testMultiSamplePilot1() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000", 1, - Arrays.asList("847605f4efafef89529fe0e496315edd")); - executeTest("test MultiSample Pilot1", spec); - } - - @Test - public void testWithAllelesPassedIn1() { - WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( - baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, - Arrays.asList("5b31b811072a4df04524e13604015f9b")); - executeTest("test MultiSample Pilot2 with alleles passed in", spec1); - } - - @Test - public void testWithAllelesPassedIn2() { - WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( - baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, - Arrays.asList("d9992e55381afb43742cc9b30fcd7538")); - executeTest("test MultiSample Pilot2 with alleles passed in and emitting all sites", spec2); - } - - @Test - public void testSingleSamplePilot2() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1, - Arrays.asList("dff4412a074940d26994f9552476b209")); - executeTest("test SingleSample Pilot2", spec); - } - - @Test - public void testMultipleSNPAlleles() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm BOTH --dbsnp " + b37dbSNP129 + " -I " + privateTestDir + "multiallelic.snps.bam -o %s -L " + privateTestDir + "multiallelic.snps.intervals", 1, - Arrays.asList("35479a79e1ce7c15493bd77e58cadcaa")); - executeTest("test Multiple SNP alleles", spec); - } - - @Test - public void testBadRead() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm BOTH -I " + privateTestDir + "badRead.test.bam -o %s -L 1:22753424-22753464", 1, - Arrays.asList("d915535c1458733f09f82670092fcab6")); - executeTest("test bad read", spec); - } - - @Test - public void testReverseTrim() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm INDEL -I " + validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam -o %s -L 20:10289124 -L 20:10090289", 1, - Arrays.asList("1e61de694b51d7c0f26da5179ee6bb0c")); - executeTest("test reverse trim", spec); - } - - @Test - public void testMismatchedPLs() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm INDEL -I " + privateTestDir + "mismatchedPLs.bam -o %s -L 1:24020341", 1, - Arrays.asList("935ee705ffe8cc6bf1d9efcceea271c8")); - executeTest("test mismatched PLs", spec); - } - - // -------------------------------------------------------------------------------------------------------------- - // - // testing compressed output - // - // -------------------------------------------------------------------------------------------------------------- - - private final static String COMPRESSED_OUTPUT_MD5 = "e6e33f0ebabab027eabed51fe9a08da9"; - - @Test - public void testCompressedOutput() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1, - Arrays.asList("gz"), Arrays.asList(COMPRESSED_OUTPUT_MD5)); - executeTest("test compressed output", spec); - } - - // -------------------------------------------------------------------------------------------------------------- - // - // testing parallelization - // - // -------------------------------------------------------------------------------------------------------------- - - @Test - public void testParallelization() { - - // Note that we need to turn off any randomization for this to work, so no downsampling and no annotations - - String md5 = "d408b4661b820ed86272415b8ea08780"; - - WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( - baseCommand + " -dt NONE -G none --contamination_fraction_to_filter 0.0 -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000", 1, - Arrays.asList(md5)); - executeTest("test parallelization (single thread)", spec1); - - GenomeAnalysisEngine.resetRandomGenerator(); - - WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( - baseCommand + " -dt NONE -G none --contamination_fraction_to_filter 0.0 -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000 -nt 2", 1, - Arrays.asList(md5)); - executeTest("test parallelization (2 threads)", spec2); - - GenomeAnalysisEngine.resetRandomGenerator(); - - WalkerTest.WalkerTestSpec spec3 = new WalkerTest.WalkerTestSpec( - baseCommand + " -dt NONE -G none --contamination_fraction_to_filter 0.0 -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000 -nt 4", 1, - Arrays.asList(md5)); - executeTest("test parallelization (4 threads)", spec3); - } - // -------------------------------------------------------------------------------------------------------------- // // testing parameters @@ -268,12 +146,12 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { // -------------------------------------------------------------------------------------------------------------- @Test public void testHeterozyosity1() { - testHeterozosity( 0.01, "bdc8760d7ae1e01c0510b12c1e6fcfa3" ); + testHeterozosity( 0.01, "ffc1f83a045dc09360e11de7a8efd159" ); } @Test public void testHeterozyosity2() { - testHeterozosity( 1.0 / 1850, "f508f06a47305e11e62776615cb14fe3" ); + testHeterozosity( 1.0 / 1850, "5426a98df9f5fd70aef295d889c4e4f1" ); } private void testHeterozosity(final double arg, final String md5) { @@ -283,6 +161,54 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { executeTest(String.format("test heterozyosity[%s]", arg), spec); } + // -------------------------------------------------------------------------------------------------------------- + // + // testing compressed output + // + // -------------------------------------------------------------------------------------------------------------- + + private final static String COMPRESSED_OUTPUT_MD5 = "d5a7326fdcf6d441b73c381912ad3a2a"; + + @Test + public void testCompressedOutput() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1, + Arrays.asList("gz"), Arrays.asList(COMPRESSED_OUTPUT_MD5)); + executeTest("test compressed output", spec); + } + + // -------------------------------------------------------------------------------------------------------------- + // + // testing parallelization + // + // -------------------------------------------------------------------------------------------------------------- + + @Test + public void testParallelization() { + + // Note that we need to turn off any randomization for this to work, so no downsampling and no annotations + + String md5 = "d408b4661b820ed86272415b8ea08780"; + + WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( + baseCommand + " -dt NONE -G none --contamination_fraction_to_filter 0.0 -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000", 1, + Arrays.asList(md5)); + executeTest("test parallelization (single thread)", spec1); + + GenomeAnalysisEngine.resetRandomGenerator(); + + WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( + baseCommand + " -dt NONE -G none --contamination_fraction_to_filter 0.0 -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000 -nt 2", 1, + Arrays.asList(md5)); + executeTest("test parallelization (2 threads)", spec2); + + GenomeAnalysisEngine.resetRandomGenerator(); + + WalkerTest.WalkerTestSpec spec3 = new WalkerTest.WalkerTestSpec( + baseCommand + " -dt NONE -G none --contamination_fraction_to_filter 0.0 -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,075,000 -nt 4", 1, + Arrays.asList(md5)); + executeTest("test parallelization (4 threads)", spec3); + } // -------------------------------------------------------------------------------------------------------------- // @@ -297,7 +223,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -o %s" + " -L 1:10,000,000-10,100,000", 1, - Arrays.asList("13d91059f58fb50a07a6a34b9438a45b")); + Arrays.asList("68961b19a29ae224059c33ef41cdcb58")); executeTest(String.format("test multiple technologies"), spec); } @@ -316,114 +242,11 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { " -L 1:10,000,000-10,100,000" + " -baq CALCULATE_AS_NECESSARY", 1, - Arrays.asList("07d8b77a5f6697f3a47a4f1efb0dcf50")); + Arrays.asList("9fcb234f7573209dec4dae86db091efd")); executeTest(String.format("test calling with BAQ"), spec); } - // -------------------------------------------------------------------------------------------------------------- - // - // testing indel caller - // - // -------------------------------------------------------------------------------------------------------------- - // Basic indel testing with SLX data - @Test - public void testSimpleIndels() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndels + - " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam" + - " -o %s" + - " -L 1:10,000,000-10,500,000", - 1, - Arrays.asList("0f026d2e568172cf32813cc54ea7ba23")); - - executeTest(String.format("test indel caller in SLX"), spec); - } - - // Basic indel testing with SLX data - @Test - public void testIndelsWithLowMinAlleleCnt() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndels + - " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam" + - " -o %s" + - " -minIndelCnt 1" + - " -L 1:10,000,000-10,100,000", - 1, - Arrays.asList("e7ad858e9d6617534761918561f3ed4c")); - - executeTest(String.format("test indel caller in SLX with low min allele count"), spec); - } - - @Test - public void testMultiTechnologyIndels() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndels + - " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.allTechs.bam" + - " -o %s" + - " -L 1:10,000,000-10,500,000", - 1, - Arrays.asList("8231ae37b52b927db9fc1e5c221b0ba0")); - - executeTest(String.format("test indel calling, multiple technologies"), spec); - } - - @Test - public void testWithIndelAllelesPassedIn1() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + - "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, - Arrays.asList("9430fe36789a791fcff6162f768ae563")); - executeTest("test MultiSample Pilot2 indels with alleles passed in", spec); - } - - @Test - public void testWithIndelAllelesPassedIn2() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndels + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " - + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + - "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, - Arrays.asList("8d8dbf483526b0b309f5728619a74a86")); - executeTest("test MultiSample Pilot2 indels with alleles passed in and emitting all sites", spec); - } - - @Test - public void testMultiSampleIndels1() { - WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( - baseCommandIndels + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, - Arrays.asList("a47810de2f6ef8087f4644064a0814bc")); - List result = executeTest("test MultiSample Pilot1 CEU indels", spec1).getFirst(); - - WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( - baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + result.get(0).getAbsolutePath() + " -I " + validationDataLocation + - "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, - Arrays.asList("53b8d2b0fa63c5d1019855e8e0db28f0")); - executeTest("test MultiSample Pilot1 CEU indels using GENOTYPE_GIVEN_ALLELES", spec2); - } - - @Test - public void testGGAwithNoEvidenceInReads() { - final String vcf = "small.indel.test.vcf"; - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndelsb37 + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + privateTestDir + vcf + " -I " + validationDataLocation + - "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam -o %s -L " + validationDataLocation + vcf, 1, - Arrays.asList("d76eacc4021b78ccc0a9026162e814a7")); - executeTest("test GENOTYPE_GIVEN_ALLELES with no evidence in reads", spec); - } - - @Test - public void testBaseIndelQualityScores() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommandIndelsb37 + - " -I " + privateTestDir + "NA12878.100kb.BQSRv2.example.bam" + - " -o %s" + - " -L 20:10,000,000-10,100,000", - 1, - Arrays.asList("1e0d2c15546c3b0959b00ffb75488b56")); - - executeTest(String.format("test UG with base indel quality scores"), spec); - } - // -------------------------------------------------------------------------------------------------------------- // // testing SnpEff @@ -440,39 +263,6 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { executeTest("testSnpEffAnnotationRequestedWithoutRodBinding", spec); } - // -------------------------------------------------------------------------------------------------------------- - // - // testing MinIndelFraction - // - // -------------------------------------------------------------------------------------------------------------- - - final static String assessMinIndelFraction = baseCommandIndelsb37 + " -I " + validationDataLocation - + "978604.bam -L 1:978,586-978,626 -o %s --sites_only -rf Sample -goodSM 7377 -goodSM 22-0022 -goodSM 134 -goodSM 344029-53 -goodSM 14030"; - - @Test - public void testMinIndelFraction0() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - assessMinIndelFraction + " -minIndelFrac 0.0", 1, - Arrays.asList("db3026c49a3de7a5cb9a3d77635d0706")); - executeTest("test minIndelFraction 0.0", spec); - } - - @Test - public void testMinIndelFraction25() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - assessMinIndelFraction + " -minIndelFrac 0.25", 1, - Arrays.asList("7ab8e5ee15ab98d6756b0eea0f4d3798")); - executeTest("test minIndelFraction 0.25", spec); - } - - @Test - public void testMinIndelFraction100() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - assessMinIndelFraction + " -minIndelFrac 1", 1, - Arrays.asList("3f07efb768e08650a7ce333edd4f9a52")); - executeTest("test minIndelFraction 1.0", spec); - } - // -------------------------------------------------------------------------------------------------------------- // // testing Ns in CIGAR @@ -486,52 +276,4 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest { Arrays.asList("4d36969d4f8f1094f1fb6e7e085c19f6")); executeTest("test calling on reads with Ns in CIGAR", spec); } - - // -------------------------------------------------------------------------------------------------------------- - // - // testing reduced reads - // - // -------------------------------------------------------------------------------------------------------------- - - @Test - public void testReducedBam() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "bamExample.ReducedRead.ADAnnotation.bam -o %s -L 1:67,225,396-67,288,518", 1, - Arrays.asList("8b9a9fc2e7150acbe2dac91b4620f304")); - executeTest("test calling on a ReducedRead BAM", spec); - } - - @Test - public void testReducedBamSNPs() { - testReducedCalling("SNP", "b5991dddbfb59366614ff8819062649f"); - } - - @Test - public void testReducedBamINDELs() { - testReducedCalling("INDEL", "a85c110fcac9574a54c7daccb1e2d5ae"); - } - - - private void testReducedCalling(final String model, final String md5) { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.reduced.bam -o %s -L 20:10,000,000-11,000,000 -glm " + model, 1, - Arrays.asList(md5)); - executeTest("test calling on a ReducedRead BAM with " + model, spec); - } - - // -------------------------------------------------------------------------------------------------------------- - // - // testing contamination down-sampling - // - // -------------------------------------------------------------------------------------------------------------- - - @Test - public void testContaminationDownsampling() { - WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 --contamination_fraction_to_filter 0.20", 1, - Arrays.asList("1f9071466fc40f4c6a0f58ac8e9135fb")); - executeTest("test contamination_percentage_to_filter 0.20", spec); - } - - } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperNormalCallingIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperNormalCallingIntegrationTest.java new file mode 100644 index 000000000..49083e45b --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperNormalCallingIntegrationTest.java @@ -0,0 +1,126 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import java.util.Arrays; + +public class UnifiedGenotyperNormalCallingIntegrationTest extends WalkerTest{ + + private final static String baseCommand = "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH -minIndelFrac 0.0 --dbsnp " + b36dbSNP129; + + // -------------------------------------------------------------------------------------------------------------- + // + // testing normal calling + // + // -------------------------------------------------------------------------------------------------------------- + @Test + public void testMultiSamplePilot1() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000", 1, + Arrays.asList("2f15ef1ead56d875a3f1d53772f52b3a")); + executeTest("test MultiSample Pilot1", spec); + } + + @Test + public void testWithAllelesPassedIn1() { + WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( + baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, + Arrays.asList("5b31b811072a4df04524e13604015f9b")); + executeTest("test MultiSample Pilot2 with alleles passed in", spec1); + } + + @Test + public void testWithAllelesPassedIn2() { + WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( + baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, + Arrays.asList("d9992e55381afb43742cc9b30fcd7538")); + executeTest("test MultiSample Pilot2 with alleles passed in and emitting all sites", spec2); + } + + @Test + public void testSingleSamplePilot2() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1, + Arrays.asList("33ab66c2f062cfa1f7fcc077165f778c")); + executeTest("test SingleSample Pilot2", spec); + } + + @Test + public void testMultipleSNPAlleles() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm BOTH --dbsnp " + b37dbSNP129 + " -I " + privateTestDir + "multiallelic.snps.bam -o %s -L " + privateTestDir + "multiallelic.snps.intervals", 1, + Arrays.asList("9fac00485419878749b03706ae6b852f")); + executeTest("test Multiple SNP alleles", spec); + } + + @Test + public void testBadRead() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm BOTH -I " + privateTestDir + "badRead.test.bam -o %s -L 1:22753424-22753464", 1, + Arrays.asList("d915535c1458733f09f82670092fcab6")); + executeTest("test bad read", spec); + } + + @Test + public void testReverseTrim() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm INDEL -I " + validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam -o %s -L 20:10289124 -L 20:10090289", 1, + Arrays.asList("eb9604b77a7d6baab60c81ac3db5e47b")); + executeTest("test reverse trim", spec); + } + + @Test + public void testMismatchedPLs() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -glm INDEL -I " + privateTestDir + "mismatchedPLs.bam -o %s -L 1:24020341", 1, + Arrays.asList("de2c5707c1805d17d70acaecd36b7372")); + executeTest("test mismatched PLs", spec); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperReducedReadsIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperReducedReadsIntegrationTest.java new file mode 100644 index 000000000..d65020dcc --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperReducedReadsIntegrationTest.java @@ -0,0 +1,87 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.genotyper; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import java.util.Arrays; + +public class UnifiedGenotyperReducedReadsIntegrationTest extends WalkerTest { + + // -------------------------------------------------------------------------------------------------------------- + // + // testing reduced reads + // + // -------------------------------------------------------------------------------------------------------------- + + @Test + public void testReducedBam() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "bamExample.ReducedRead.ADAnnotation.bam -o %s -L 1:67,225,396-67,288,518", 1, + Arrays.asList("8b9a9fc2e7150acbe2dac91b4620f304")); + executeTest("test calling on a ReducedRead BAM", spec); + } + + @Test + public void testReducedBamSNPs() { + testReducedCalling("SNP", "b5991dddbfb59366614ff8819062649f"); + } + + @Test + public void testReducedBamINDELs() { + testReducedCalling("INDEL", "acde5694a74f867256a54a26cbebbf21"); + } + + + private void testReducedCalling(final String model, final String md5) { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T UnifiedGenotyper -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.reduced.bam -o %s -L 20:10,000,000-11,000,000 -glm " + model, 1, + Arrays.asList(md5)); + executeTest("test calling on a ReducedRead BAM with " + model, spec); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssemblerUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblerUnitTest.java similarity index 73% rename from protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssemblerUnitTest.java rename to protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblerUnitTest.java index 24915d34b..f4a6d5494 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssemblerUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblerUnitTest.java @@ -52,19 +52,21 @@ package org.broadinstitute.sting.gatk.walkers.haplotypecaller; * Date: 3/27/12 */ +import net.sf.samtools.Cigar; +import net.sf.samtools.CigarElement; +import net.sf.samtools.CigarOperator; import org.broadinstitute.sting.BaseTest; -import org.broadinstitute.sting.gatk.contexts.AlignmentContext; -import org.broadinstitute.sting.gatk.walkers.genotyper.ArtificialReadPileupTestProvider; import org.broadinstitute.sting.utils.Haplotype; -import org.jgrapht.graph.DefaultDirectedGraph; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.sam.AlignmentUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.testng.Assert; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; -import java.io.PrintStream; import java.util.*; -public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { +public class DeBruijnAssemblerUnitTest extends BaseTest { private class MergeNodesWithNoVariationTestProvider extends TestDataProvider { @@ -77,16 +79,16 @@ public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { KMER_LENGTH = kmer; } - public DefaultDirectedGraph expectedGraph() { + public DeBruijnAssemblyGraph expectedGraph() { DeBruijnVertex v = new DeBruijnVertex(sequence, KMER_LENGTH); - DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); graph.addVertex(v); return graph; } - public DefaultDirectedGraph calcGraph() { + public DeBruijnAssemblyGraph calcGraph() { - DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); final int kmersInSequence = sequence.length - KMER_LENGTH + 1; for (int i = 0; i < kmersInSequence - 1; i++) { // get the kmers @@ -95,9 +97,9 @@ public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { final byte[] kmer2 = new byte[KMER_LENGTH]; System.arraycopy(sequence, i+1, kmer2, 0, KMER_LENGTH); - SimpleDeBruijnAssembler.addKmersToGraph(graph, kmer1, kmer2, false); + graph.addKmersToGraph(kmer1, kmer2, false); } - SimpleDeBruijnAssembler.mergeNodes(graph); + DeBruijnAssembler.mergeNodes(graph); return graph; } } @@ -124,8 +126,8 @@ public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { @Test(enabled = true) public void testPruneGraph() { - DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); - DefaultDirectedGraph expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); + DeBruijnAssemblyGraph expectedGraph = new DeBruijnAssemblyGraph(); DeBruijnVertex v = new DeBruijnVertex("ATGG".getBytes(), 1); DeBruijnVertex v2 = new DeBruijnVertex("ATGGA".getBytes(), 1); @@ -154,12 +156,12 @@ public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { expectedGraph.addEdge(v3, v4, new DeBruijnEdge(false, 5)); expectedGraph.addEdge(v4, v5, new DeBruijnEdge(false, 3)); - SimpleDeBruijnAssembler.pruneGraph(graph, 2); + DeBruijnAssembler.pruneGraph(graph, 2); Assert.assertTrue(graphEquals(graph, expectedGraph)); - graph = new DefaultDirectedGraph(DeBruijnEdge.class); - expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); + graph = new DeBruijnAssemblyGraph(); + expectedGraph = new DeBruijnAssemblyGraph(); graph.addVertex(v); graph.addVertex(v2); @@ -182,103 +184,12 @@ public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { expectedGraph.addEdge(v3, v4, new DeBruijnEdge(false, 5)); expectedGraph.addEdge(v4, v5, new DeBruijnEdge(false, 3)); - SimpleDeBruijnAssembler.pruneGraph(graph, 2); + DeBruijnAssembler.pruneGraph(graph, 2); Assert.assertTrue(graphEquals(graph, expectedGraph)); } - @Test(enabled = true) - public void testEliminateNonRefPaths() { - DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); - DefaultDirectedGraph expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); - - DeBruijnVertex v = new DeBruijnVertex("ATGG".getBytes(), 1); - DeBruijnVertex v2 = new DeBruijnVertex("ATGGA".getBytes(), 1); - DeBruijnVertex v3 = new DeBruijnVertex("ATGGT".getBytes(), 1); - DeBruijnVertex v4 = new DeBruijnVertex("ATGGG".getBytes(), 1); - DeBruijnVertex v5 = new DeBruijnVertex("ATGGC".getBytes(), 1); - DeBruijnVertex v6 = new DeBruijnVertex("ATGGCCCCCC".getBytes(), 1); - - graph.addVertex(v); - graph.addVertex(v2); - graph.addVertex(v3); - graph.addVertex(v4); - graph.addVertex(v5); - graph.addVertex(v6); - graph.addEdge(v, v2, new DeBruijnEdge(false)); - graph.addEdge(v2, v3, new DeBruijnEdge(true)); - graph.addEdge(v3, v4, new DeBruijnEdge(true)); - graph.addEdge(v4, v5, new DeBruijnEdge(true)); - graph.addEdge(v5, v6, new DeBruijnEdge(false)); - - expectedGraph.addVertex(v2); - expectedGraph.addVertex(v3); - expectedGraph.addVertex(v4); - expectedGraph.addVertex(v5); - expectedGraph.addEdge(v2, v3, new DeBruijnEdge()); - expectedGraph.addEdge(v3, v4, new DeBruijnEdge()); - expectedGraph.addEdge(v4, v5, new DeBruijnEdge()); - - SimpleDeBruijnAssembler.eliminateNonRefPaths(graph); - - Assert.assertTrue(graphEquals(graph, expectedGraph)); - - - - - graph = new DefaultDirectedGraph(DeBruijnEdge.class); - expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); - - graph.addVertex(v); - graph.addVertex(v2); - graph.addVertex(v3); - graph.addVertex(v4); - graph.addVertex(v5); - graph.addVertex(v6); - graph.addEdge(v, v2, new DeBruijnEdge(true)); - graph.addEdge(v2, v3, new DeBruijnEdge(true)); - graph.addEdge(v4, v5, new DeBruijnEdge(false)); - graph.addEdge(v5, v6, new DeBruijnEdge(false)); - - expectedGraph.addVertex(v); - expectedGraph.addVertex(v2); - expectedGraph.addVertex(v3); - expectedGraph.addEdge(v, v2, new DeBruijnEdge()); - expectedGraph.addEdge(v2, v3, new DeBruijnEdge()); - - SimpleDeBruijnAssembler.eliminateNonRefPaths(graph); - - Assert.assertTrue(graphEquals(graph, expectedGraph)); - - - - graph = new DefaultDirectedGraph(DeBruijnEdge.class); - expectedGraph = new DefaultDirectedGraph(DeBruijnEdge.class); - - graph.addVertex(v); - graph.addVertex(v2); - graph.addVertex(v3); - graph.addVertex(v4); - graph.addVertex(v5); - graph.addVertex(v6); - graph.addEdge(v, v2, new DeBruijnEdge(true)); - graph.addEdge(v2, v3, new DeBruijnEdge(true)); - graph.addEdge(v4, v5, new DeBruijnEdge(false)); - graph.addEdge(v5, v6, new DeBruijnEdge(false)); - graph.addEdge(v4, v2, new DeBruijnEdge(false)); - - expectedGraph.addVertex(v); - expectedGraph.addVertex(v2); - expectedGraph.addVertex(v3); - expectedGraph.addEdge(v, v2, new DeBruijnEdge()); - expectedGraph.addEdge(v2, v3, new DeBruijnEdge()); - - SimpleDeBruijnAssembler.eliminateNonRefPaths(graph); - - Assert.assertTrue(graphEquals(graph, expectedGraph)); - } - - private boolean graphEquals(DefaultDirectedGraph g1, DefaultDirectedGraph g2) { + private boolean graphEquals(DeBruijnAssemblyGraph g1, DeBruijnAssemblyGraph g2) { if( !(g1.vertexSet().containsAll(g2.vertexSet()) && g2.vertexSet().containsAll(g1.vertexSet())) ) { return false; } @@ -298,4 +209,58 @@ public class SimpleDeBruijnAssemblerUnitTest extends BaseTest { } return true; } + + @Test(enabled = true) + public void testReferenceCycleGraph() { + String refCycle = "ATCGAGGAGAGCGCCCCGAGATATATATATATATATTTGCGAGCGCGAGCGTTTTAAAAATTTTAGACGGAGAGATATATATATATGGGAGAGGGGATATATATATATCCCCCC"; + String noCycle = "ATCGAGGAGAGCGCCCCGAGATATTATTTGCGAGCGCGAGCGTTTTAAAAATTTTAGACGGAGAGATGGGAGAGGGGATATATAATATCCCCCC"; + final DeBruijnAssemblyGraph g1 = DeBruijnAssembler.createGraphFromSequences(new ArrayList(), 10, new Haplotype(refCycle.getBytes(), true), false); + final DeBruijnAssemblyGraph g2 = DeBruijnAssembler.createGraphFromSequences(new ArrayList(), 10, new Haplotype(noCycle.getBytes(), true), false); + + Assert.assertTrue(g1 == null, "Reference cycle graph should return null during creation."); + Assert.assertTrue(g2 != null, "Reference non-cycle graph should not return null during creation."); + } + + @Test(enabled = true) + public void testLeftAlignCigarSequentially() { + String preRefString = "GATCGATCGATC"; + String postRefString = "TTT"; + String refString = "ATCGAGGAGAGCGCCCCG"; + String indelString1 = "X"; + String indelString2 = "YZ"; + int refIndel1 = 10; + int refIndel2 = 12; + + for ( final int indelSize1 : Arrays.asList(1, 2, 3, 4) ) { + for ( final int indelOp1 : Arrays.asList(1, -1) ) { + for ( final int indelSize2 : Arrays.asList(1, 2, 3, 4) ) { + for ( final int indelOp2 : Arrays.asList(1, -1) ) { + + Cigar expectedCigar = new Cigar(); + expectedCigar.add(new CigarElement(refString.length(), CigarOperator.M)); + expectedCigar.add(new CigarElement(indelSize1, (indelOp1 > 0 ? CigarOperator.I : CigarOperator.D))); + expectedCigar.add(new CigarElement((indelOp1 < 0 ? refIndel1 - indelSize1 : refIndel1), CigarOperator.M)); + expectedCigar.add(new CigarElement(refString.length(), CigarOperator.M)); + expectedCigar.add(new CigarElement(indelSize2 * 2, (indelOp2 > 0 ? CigarOperator.I : CigarOperator.D))); + expectedCigar.add(new CigarElement((indelOp2 < 0 ? (refIndel2 - indelSize2) * 2 : refIndel2 * 2), CigarOperator.M)); + expectedCigar.add(new CigarElement(refString.length(), CigarOperator.M)); + + Cigar givenCigar = new Cigar(); + givenCigar.add(new CigarElement(refString.length() + refIndel1/2, CigarOperator.M)); + givenCigar.add(new CigarElement(indelSize1, (indelOp1 > 0 ? CigarOperator.I : CigarOperator.D))); + givenCigar.add(new CigarElement((indelOp1 < 0 ? (refIndel1/2 - indelSize1) : refIndel1/2) + refString.length() + refIndel2/2 * 2, CigarOperator.M)); + givenCigar.add(new CigarElement(indelSize2 * 2, (indelOp2 > 0 ? CigarOperator.I : CigarOperator.D))); + givenCigar.add(new CigarElement((indelOp2 < 0 ? (refIndel2/2 - indelSize2) * 2 : refIndel2/2 * 2) + refString.length(), CigarOperator.M)); + + String theRef = preRefString + refString + Utils.dupString(indelString1, refIndel1) + refString + Utils.dupString(indelString2, refIndel2) + refString + postRefString; + String theRead = refString + Utils.dupString(indelString1, refIndel1 + indelOp1 * indelSize1) + refString + Utils.dupString(indelString2, refIndel2 + indelOp2 * indelSize2) + refString; + + Cigar calculatedCigar = DeBruijnAssembler.leftAlignCigarSequentially(AlignmentUtils.consolidateCigar(givenCigar), theRef.getBytes(), theRead.getBytes(), preRefString.length(), 0); + Assert.assertEquals(AlignmentUtils.consolidateCigar(calculatedCigar).toString(), AlignmentUtils.consolidateCigar(expectedCigar).toString(), "Cigar strings do not match!"); + } + } + } + } + } + } diff --git a/protected/java/src/org/broadinstitute/sting/utils/pairhmm/CachingPairHMM.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblyGraphUnitTest.java similarity index 52% rename from protected/java/src/org/broadinstitute/sting/utils/pairhmm/CachingPairHMM.java rename to protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblyGraphUnitTest.java index 32cad4bca..5a1497236 100644 --- a/protected/java/src/org/broadinstitute/sting/utils/pairhmm/CachingPairHMM.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnAssemblyGraphUnitTest.java @@ -44,160 +44,80 @@ * 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. */ -package org.broadinstitute.sting.utils.pairhmm; +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; -import org.broadinstitute.sting.utils.MathUtils; -import org.broadinstitute.sting.utils.QualityUtils; - -import java.util.Arrays; +import org.broadinstitute.sting.BaseTest; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; /** * Created with IntelliJ IDEA. - * User: rpoplin, carneiro - * Date: 10/16/12 + * User: rpoplin + * Date: 2/8/13 */ -public class CachingPairHMM extends OriginalPairHMM { +public class DeBruijnAssemblyGraphUnitTest { + private class GetReferenceBytesTestProvider extends BaseTest.TestDataProvider { + public byte[] refSequence; + public byte[] altSequence; + public int KMER_LENGTH; - double[][] constantMatrix = null; // The cache in the CachingPairHMM - double[][] distanceMatrix = null; // The cache in the CachingPairHMM - - protected static final double [] firstRowConstantMatrix = { - QualityUtils.qualToProbLog10((byte) (DEFAULT_GOP + DEFAULT_GOP)), - QualityUtils.qualToProbLog10(DEFAULT_GCP), - QualityUtils.qualToErrorProbLog10(DEFAULT_GOP), - QualityUtils.qualToErrorProbLog10(DEFAULT_GCP), - 0.0, - 0.0 - }; - - @Override - public void initialize( final int READ_MAX_LENGTH, final int HAPLOTYPE_MAX_LENGTH ) { - - super.initialize(READ_MAX_LENGTH, HAPLOTYPE_MAX_LENGTH); - - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = READ_MAX_LENGTH + 2; - final int Y_METRIC_LENGTH = HAPLOTYPE_MAX_LENGTH + 2; - - constantMatrix = new double[X_METRIC_LENGTH][6]; - distanceMatrix = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - - // fill in the first row - for( int jjj = 2; jjj < Y_METRIC_LENGTH; jjj++ ) { - updateCell(1, jjj, 0.0, firstRowConstantMatrix, matchMetricArray, XMetricArray, YMetricArray); + public GetReferenceBytesTestProvider(String ref, String alt, int kmer) { + super(GetReferenceBytesTestProvider.class, String.format("Testing reference bytes. kmer = %d, ref = %s, alt = %s", kmer, ref, alt)); + refSequence = ref.getBytes(); + altSequence = alt.getBytes(); + KMER_LENGTH = kmer; } - } - @Override - public double computeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, - final byte[] readBases, - final byte[] readQuals, - final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP, - final int hapStartIndex, - final boolean recacheReadValues ) { - - if( recacheReadValues ) { - initializeConstants( insertionGOP, deletionGOP, overallGCP ); + public byte[] expectedReferenceBytes() { + return refSequence; } - initializeDistanceMatrix( haplotypeBases, readBases, readQuals, hapStartIndex ); - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = readBases.length + 2; - final int Y_METRIC_LENGTH = haplotypeBases.length + 2; - - for (int i = 2; i < X_METRIC_LENGTH; i++) { - for (int j = hapStartIndex+1; j < Y_METRIC_LENGTH; j++) { - updateCell(i, j, distanceMatrix[i][j], constantMatrix[i], matchMetricArray, XMetricArray, YMetricArray); - } - } - - // final probability is the log10 sum of the last element in all three state arrays - final int endI = X_METRIC_LENGTH - 1; - final int endJ = Y_METRIC_LENGTH - 1; - return MathUtils.approximateLog10SumLog10(matchMetricArray[endI][endJ], XMetricArray[endI][endJ], YMetricArray[endI][endJ]); - } - - /** - * Initializes the matrix that holds all the constants related to the editing - * distance between the read and the haplotype. - * - * @param haplotypeBases the bases of the haplotype - * @param readBases the bases of the read - * @param readQuals the base quality scores of the read - * @param startIndex where to start updating the distanceMatrix (in case this read is similar to the previous read) - */ - public void initializeDistanceMatrix( final byte[] haplotypeBases, - final byte[] readBases, - final byte[] readQuals, - final int startIndex ) { - - // initialize the pBaseReadLog10 matrix for all combinations of read x haplotype bases - // Abusing the fact that java initializes arrays with 0.0, so no need to fill in rows and columns below 2. - - for (int i = 0; i < readBases.length; i++) { - final byte x = readBases[i]; - final byte qual = readQuals[i]; - for (int j = startIndex; j < haplotypeBases.length; j++) { - final byte y = haplotypeBases[j]; - distanceMatrix[i+2][j+2] = ( x == y || x == (byte) 'N' || y == (byte) 'N' ? - QualityUtils.qualToProbLog10(qual) : QualityUtils.qualToErrorProbLog10(qual) ); + public byte[] calculatedReferenceBytes() { + DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); + graph.addSequenceToGraph(refSequence, KMER_LENGTH, true); + if( altSequence.length > 0 ) { + graph.addSequenceToGraph(altSequence, KMER_LENGTH, false); } + return graph.getReferenceBytes(graph.getReferenceSourceVertex(), graph.getReferenceSinkVertex(), true, true); } } - /** - * Initializes the matrix that holds all the constants related to quality scores. - * - * @param insertionGOP insertion quality scores of the read - * @param deletionGOP deletion quality scores of the read - * @param overallGCP overall gap continuation penalty - */ - public void initializeConstants( final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP ) { + @DataProvider(name = "GetReferenceBytesTestProvider") + public Object[][] GetReferenceBytesTests() { + new GetReferenceBytesTestProvider("GGTTAACC", "", 3); + new GetReferenceBytesTestProvider("GGTTAACC", "", 4); + new GetReferenceBytesTestProvider("GGTTAACC", "", 5); + new GetReferenceBytesTestProvider("GGTTAACC", "", 6); + new GetReferenceBytesTestProvider("GGTTAACC", "", 7); + new GetReferenceBytesTestProvider("GGTTAACCATGCAGACGGGAGGCTGAGCGAGAGTTTT", "", 6); + new GetReferenceBytesTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", "", 66); + new GetReferenceBytesTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", "", 76); - final int l = insertionGOP.length; - constantMatrix[1] = firstRowConstantMatrix; - for (int i = 0; i < l; i++) { - final int qualIndexGOP = Math.min(insertionGOP[i] + deletionGOP[i], Byte.MAX_VALUE); - constantMatrix[i+2][0] = QualityUtils.qualToProbLog10((byte) qualIndexGOP); - constantMatrix[i+2][1] = QualityUtils.qualToProbLog10(overallGCP[i]); - constantMatrix[i+2][2] = QualityUtils.qualToErrorProbLog10(insertionGOP[i]); - constantMatrix[i+2][3] = QualityUtils.qualToErrorProbLog10(overallGCP[i]); - constantMatrix[i+2][4] = QualityUtils.qualToErrorProbLog10(deletionGOP[i]); - constantMatrix[i+2][5] = QualityUtils.qualToErrorProbLog10(overallGCP[i]); - } - constantMatrix[l+1][4] = 0.0; - constantMatrix[l+1][5] = 0.0; + new GetReferenceBytesTestProvider("GGTTAACC", "GGTTAACC", 3); + new GetReferenceBytesTestProvider("GGTTAACC", "GGTTAACC", 4); + new GetReferenceBytesTestProvider("GGTTAACC", "GGTTAACC", 5); + new GetReferenceBytesTestProvider("GGTTAACC", "GGTTAACC", 6); + new GetReferenceBytesTestProvider("GGTTAACC", "GGTTAACC", 7); + new GetReferenceBytesTestProvider("GGTTAACCATGCAGACGGGAGGCTGAGCGAGAGTTTT", "GGTTAACCATGCAGACGGGAGGCTGAGCGAGAGTTTT", 6); + new GetReferenceBytesTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", "AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", 66); + new GetReferenceBytesTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", "AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", 76); + + new GetReferenceBytesTestProvider("GGTTAACC", "AAAAAAAAAAAAA", 3); + new GetReferenceBytesTestProvider("GGTTAACC", "AAAAAAAAAAAAA", 4); + new GetReferenceBytesTestProvider("GGTTAACC", "AAAAAAAAAAAAA", 5); + new GetReferenceBytesTestProvider("GGTTAACC", "AAAAAAAAAAAAA", 6); + new GetReferenceBytesTestProvider("GGTTAACC", "AAAAAAAAAAAAA", 7); + new GetReferenceBytesTestProvider("GGTTAACCATGCAGACGGGAGGCTGAGCGAGAGTTTT", "AAAAAAAAAAAAA", 6); + new GetReferenceBytesTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", "AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA", 66); + new GetReferenceBytesTestProvider("AATACCATTGGAGTTTTTTTCCAGGTTAAGATGGTGCATTGAATCCACCCATCTACTTTTGCTCCTCCCAAAACTCACTAAAACTATTATAAAGGGATTTTGTTTAAAGACACAAACTCATGAGGACAGAGAGAACAGAGTAGACAATAGTGGGGGAAAAATAAGTTGGAAGATAGAAAACAGATGGGTGAGTGGTAATCGACTCAGCAGCCCCAAGAAAGCTGAAACCCAGGGAAAGTTAAGAGTAGCCCTATTTTCATGGCAAAATCCAAGGGGGGGTGGGGAAAGAAAGAAAAACAGAAAAAAAAATGGGAATTGGCAGTCCTAGATATCTCTGGTACTGGGCAAGCCAAAGAATCAGGATAACTGGGTGAAAGGTGATTGGGAAGCAGTTAAAATCTTAGTTCCCCTCTTCCACTCTCCGAGCAGCAGGTTTCTCTCTCTCATCAGGCAGAGGGCTGGAGAT", "AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA", 76); + + return GetReferenceBytesTestProvider.getTests(GetReferenceBytesTestProvider.class); } - /** - * Updates a cell in the HMM matrix - * - * The read and haplotype indices are offset by one because the state arrays have an extra column to hold the - * initial conditions - - * @param indI row index in the matrices to update - * @param indJ column index in the matrices to update - * @param prior the likelihood editing distance matrix for the read x haplotype - * @param constants an array with the six constants relevant to this location - * @param matchMetricArray the matches likelihood matrix - * @param XMetricArray the insertions likelihood matrix - * @param YMetricArray the deletions likelihood matrix - */ - private void updateCell( final int indI, final int indJ, final double prior, final double[] constants, - final double[][] matchMetricArray, final double[][] XMetricArray, final double[][] YMetricArray ) { - - matchMetricArray[indI][indJ] = prior + - MathUtils.approximateLog10SumLog10( matchMetricArray[indI - 1][indJ - 1] + constants[0], - XMetricArray[indI - 1][indJ - 1] + constants[1], - YMetricArray[indI - 1][indJ - 1] + constants[1] ); - XMetricArray[indI][indJ] = MathUtils.approximateLog10SumLog10( matchMetricArray[indI - 1][indJ] + constants[2], - XMetricArray[indI - 1][indJ] + constants[3]); - YMetricArray[indI][indJ] = MathUtils.approximateLog10SumLog10( matchMetricArray[indI][indJ - 1] + constants[4], - YMetricArray[indI][indJ - 1] + constants[5]); + @Test(dataProvider = "GetReferenceBytesTestProvider", enabled = true) + public void testGetReferenceBytes(GetReferenceBytesTestProvider cfg) { + Assert.assertEquals(cfg.calculatedReferenceBytes(), cfg.expectedReferenceBytes(), "Reference sequences do not match"); } } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerComplexAndSymbolicVariantsIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerComplexAndSymbolicVariantsIntegrationTest.java new file mode 100644 index 000000000..3e57663f8 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerComplexAndSymbolicVariantsIntegrationTest.java @@ -0,0 +1,98 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; 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BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.Test; + +import static org.broadinstitute.sting.gatk.walkers.haplotypecaller.HaplotypeCallerIntegrationTest.*; + +import java.util.Arrays; + +public class HaplotypeCallerComplexAndSymbolicVariantsIntegrationTest extends WalkerTest { + + private void HCTestComplexVariants(String bam, String args, String md5) { + final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10028767-10028967 -L 20:10431524-10431924 -L 20:10723661-10724061 -L 20:10903555-10903955 --no_cmdline_in_header -o %s -minPruning 4"; + final WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testHaplotypeCallerComplexVariants: args=" + args, spec); + } + + @Test + public void testHaplotypeCallerMultiSampleComplex() { + HCTestComplexVariants(privateTestDir + "AFR.complex.variants.bam", "", "a960722c1ae2b6f774d3443a7e5ac27d"); + } + + private void HCTestSymbolicVariants(String bam, String args, String md5) { + final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:5947969-5948369 -L 20:61091236-61091636 --no_cmdline_in_header -o %s -minPruning 1"; + final WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testHaplotypeCallerSymbolicVariants: args=" + args, spec); + } + + // TODO -- need a better symbolic allele test + @Test + public void testHaplotypeCallerSingleSampleSymbolic() { + HCTestSymbolicVariants(NA12878_CHR20_BAM, "", "56f2ef9acc6c0d267cf2b7a447d87fb7"); + } + + private void HCTestComplexGGA(String bam, String args, String md5) { + final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " --no_cmdline_in_header -o %s -minPruning 3 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + validationDataLocation + "combined.phase1.chr20.raw.indels.sites.vcf"; + final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); + executeTest("testHaplotypeCallerComplexGGA: args=" + args, spec); + } + + @Test + public void testHaplotypeCallerMultiSampleGGAComplex() { + HCTestComplexGGA(NA12878_CHR20_BAM, "-L 20:119673-119823 -L 20:121408-121538", + "417174e043dbb8b86cc3871da9b50536"); + } + + @Test + public void testHaplotypeCallerMultiSampleGGAMultiAllelic() { + HCTestComplexGGA(NA12878_CHR20_BAM, "-L 20:133041-133161 -L 20:300207-300337", + "f2df7a8f53ce449e4a8e8f8496e7c745"); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java index ad682734c..4988fbe77 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java @@ -54,11 +54,11 @@ import java.util.Collections; public class HaplotypeCallerIntegrationTest extends WalkerTest { final static String REF = b37KGReference; - final String NA12878_BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam"; - final String NA12878_CHR20_BAM = validationDataLocation + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam"; - final String CEUTRIO_BAM = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam"; - final String NA12878_RECALIBRATED_BAM = privateTestDir + "NA12878.100kb.BQSRv2.example.bam"; - final String INTERVALS_FILE = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals"; + final static String NA12878_BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam"; + final static String NA12878_CHR20_BAM = validationDataLocation + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam"; + final static String CEUTRIO_BAM = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam"; + final static String NA12878_RECALIBRATED_BAM = privateTestDir + "NA12878.100kb.BQSRv2.example.bam"; + final static String INTERVALS_FILE = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals"; private void HCTest(String bam, String args, String md5) { final String base = String.format("-T HaplotypeCaller -R %s -I %s -L %s", REF, bam, INTERVALS_FILE) + " --no_cmdline_in_header -o %s -minPruning 3"; @@ -68,12 +68,12 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest { @Test public void testHaplotypeCallerMultiSample() { - HCTest(CEUTRIO_BAM, "", "72ce6a5e46644dfd73aeffba9d6131ea"); + HCTest(CEUTRIO_BAM, "", "aac5517a0a64ad291b6b00825d982f7f"); } @Test public void testHaplotypeCallerSingleSample() { - HCTest(NA12878_BAM, "", "f9d696391f1f337092d70e3abcd32bfb"); + HCTest(NA12878_BAM, "", "3bfab723fb0f3a65998d82152b67ed15"); } @Test(enabled = false) @@ -84,47 +84,7 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest { @Test public void testHaplotypeCallerMultiSampleGGA() { HCTest(CEUTRIO_BAM, "--max_alternate_alleles 3 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + validationDataLocation + "combined.phase1.chr20.raw.indels.sites.vcf", - "4e8beb2cdc3d77427f14acf37cea2bd0"); - } - - private void HCTestComplexGGA(String bam, String args, String md5) { - final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " --no_cmdline_in_header -o %s -minPruning 3 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + validationDataLocation + "combined.phase1.chr20.raw.indels.sites.vcf"; - final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); - executeTest("testHaplotypeCallerComplexGGA: args=" + args, spec); - } - - @Test - public void testHaplotypeCallerMultiSampleGGAComplex() { - HCTestComplexGGA(NA12878_CHR20_BAM, "-L 20:119673-119823 -L 20:121408-121538", - "75e1df0dcf3728fd2b6e4735c4cc88ce"); - } - - @Test - public void testHaplotypeCallerMultiSampleGGAMultiAllelic() { - HCTestComplexGGA(NA12878_CHR20_BAM, "-L 20:133041-133161 -L 20:300207-300337", - "1d244f2adbc72a0062eb673d56cbb5a8"); - } - - private void HCTestComplexVariants(String bam, String args, String md5) { - final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10028767-10028967 -L 20:10431524-10431924 -L 20:10723661-10724061 -L 20:10903555-10903955 --no_cmdline_in_header -o %s -minPruning 4"; - final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); - executeTest("testHaplotypeCallerComplexVariants: args=" + args, spec); - } - - @Test - public void testHaplotypeCallerMultiSampleComplex() { - HCTestComplexVariants(privateTestDir + "AFR.complex.variants.bam", "", "a1bc844f62a9cb60dbb70d00ad36b85d"); - } - - private void HCTestSymbolicVariants(String bam, String args, String md5) { - final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:5947969-5948369 -L 20:61091236-61091636 --no_cmdline_in_header -o %s -minPruning 1"; - final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); - executeTest("testHaplotypeCallerSymbolicVariants: args=" + args, spec); - } - - @Test - public void testHaplotypeCallerSingleSampleSymbolic() { - HCTestSymbolicVariants(NA12878_CHR20_BAM, "", "23956e572f19ff26d25bbdfaa307675b"); + "283524b3e3397634d4cf0dc2b8723002"); } private void HCTestIndelQualityScores(String bam, String args, String md5) { @@ -135,25 +95,24 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest { @Test public void testHaplotypeCallerSingleSampleIndelQualityScores() { - HCTestIndelQualityScores(NA12878_RECALIBRATED_BAM, "", "1255f466aa2d288f015cd55d8fece1ac"); + HCTestIndelQualityScores(NA12878_RECALIBRATED_BAM, "", "f1f867dbbe3747f16a0d9e5f11e6ed64"); } - // That problem bam came from a user on the forum and it spotted a problem where the ReadClipper + // This problem bam came from a user on the forum and it spotted a problem where the ReadClipper // was modifying the GATKSamRecord and that was screwing up the traversal engine from map call to // map call. So the test is there for consistency but not for correctness. I'm not sure we can trust - // any of the calls in that region because it is so messy. The only thing I would maybe be worried about is - // that the three calls that are missing happen to all be the left most calls in the region + // any of the calls in that region because it is so messy. @Test public void HCTestProblematicReadsModifiedInActiveRegions() { final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, privateTestDir + "haplotype-problem-4.bam") + " --no_cmdline_in_header -o %s -minPruning 3 -L 4:49139026-49139965"; - final WalkerTestSpec spec = new WalkerTestSpec(base, Arrays.asList("103c91c4a78164949e166d3d27eb459b")); + final WalkerTestSpec spec = new WalkerTestSpec(base, Arrays.asList("ccd30e226f097a40cdeebaa035a290a7")); executeTest("HCTestProblematicReadsModifiedInActiveRegions: ", spec); } @Test public void HCTestStructuralIndels() { final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, privateTestDir + "AFR.structural.indels.bam") + " --no_cmdline_in_header -o %s -minPruning 6 -L 20:8187565-8187800 -L 20:18670537-18670730"; - final WalkerTestSpec spec = new WalkerTestSpec(base, Arrays.asList("87fe31a4bbd68a9eb5d5910db5011c82")); + final WalkerTestSpec spec = new WalkerTestSpec(base, Arrays.asList("a17e95c1191e3aef7892586fe38ca050")); executeTest("HCTestStructuralIndels: ", spec); } @@ -175,7 +134,7 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest { public void HCTestReducedBam() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-T HaplotypeCaller -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "bamExample.ReducedRead.ADAnnotation.bam -o %s -L 1:67,225,396-67,288,518", 1, - Arrays.asList("0fa19ec5cf737a3445544b59ecc995e9")); + Arrays.asList("adb08cb25e902cfe0129404a682b2169")); executeTest("HC calling on a ReducedRead BAM", spec); } @@ -183,7 +142,7 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest { public void testReducedBamWithReadsNotFullySpanningDeletion() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( "-T HaplotypeCaller -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "reduced.readNotFullySpanningDeletion.bam -o %s -L 1:167871297", 1, - Arrays.asList("5f4cbdcc9bffee6bba258dfac89492ed")); + Arrays.asList("6debe567cd5ed7eb5756b6605a151f56")); executeTest("test calling on a ReducedRead BAM where the reads do not fully span a deletion", spec); } } diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerModesIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerModesIntegrationTest.java new file mode 100644 index 000000000..27b429353 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerModesIntegrationTest.java @@ -0,0 +1,85 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.haplotypecaller; + +import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.haplotypeBAMWriter.HaplotypeBAMWriter; +import org.testng.annotations.Test; + +import java.util.Arrays; +import java.util.Collections; + +public class HaplotypeCallerModesIntegrationTest extends WalkerTest { + // -------------------------------------------------------------------------------------------------------------- + // + // testing that writing a BAM works + // + // I don't really care about the MD5s, so I'm just not providing them here, so they don't have to be + // updated. These tests are basically ensuring that the code doesn't just randomly blow up. + // + // TODO -- what i'd really like to ensure here isn't the MD5 but that the BAMs can be read by the GATK or IGV + // + // -------------------------------------------------------------------------------------------------------------- + + @Test + public void HCTestBamWriterCalledHaplotypes() { + HCTestBamWriter(HaplotypeBAMWriter.Type.CALLED_HAPLOTYPES, ""); // current MD5 = 9a2b6157f14b44b872a77f4e75c56023 + } + + @Test + public void HCTestBamWriterAllHaplotypes() { + HCTestBamWriter(HaplotypeBAMWriter.Type.ALL_POSSIBLE_HAPLOTYPES, ""); // current MD5 = 06d885d82be81b8eef13bbfcd8041189 + } + + public void HCTestBamWriter(final HaplotypeBAMWriter.Type type, final String md5) { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T HaplotypeCaller -R " + b37KGReference + " --no_cmdline_in_header -I " + privateTestDir + "PCRFree.2x250.Illumina.20_10_11.bam -o /dev/null " + + "-bamout %s -L 20:10,000,000-10,010,000 -bamWriterType " + type, 1, + Arrays.asList(md5)); + executeTest("HC writing bams with mode " + type, spec); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPathsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPathsUnitTest.java index a39ca23e3..53400b790 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPathsUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPathsUnitTest.java @@ -82,7 +82,7 @@ public class KBestPathsUnitTest { @Test(dataProvider = "BasicBubbleDataProvider") public void testBasicBubbleData(final int refBubbleLength, final int altBubbleLength) { // Construct the assembly graph - DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); final int KMER_LENGTH = 3; final String preRef = "ATGG"; final String postRef = new String(Utils.dupBytes((byte) 'A', KMER_LENGTH-1)) + "GGGGC"; @@ -142,7 +142,7 @@ public class KBestPathsUnitTest { @Test(dataProvider = "TripleBubbleDataProvider") public void testTripleBubbleData(final int refBubbleLength, final int altBubbleLength, final boolean offRefBeginning, final boolean offRefEnding) { // Construct the assembly graph - DefaultDirectedGraph graph = new DefaultDirectedGraph(DeBruijnEdge.class); + DeBruijnAssemblyGraph graph = new DeBruijnAssemblyGraph(); final int KMER_LENGTH = 3; final String preAltOption = "ATCGATCGATCGATCGATCG"; final String postAltOption = "CCCC"; @@ -211,7 +211,7 @@ public class KBestPathsUnitTest { if( offRefBeginning ) { expectedCigar.add(new CigarElement(preAltOption.length(), CigarOperator.I)); } - expectedCigar.add(new CigarElement(preRef.length() - ( offRefBeginning ? KMER_LENGTH - 1 : 0 ), CigarOperator.M)); + expectedCigar.add(new CigarElement(preRef.length() - (KMER_LENGTH - 1), CigarOperator.M)); // first bubble if( refBubbleLength > altBubbleLength ) { expectedCigar.add(new CigarElement(refBubbleLength - altBubbleLength, CigarOperator.D)); diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/indels/ReadBinUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/indels/ReadBinUnitTest.java new file mode 100644 index 000000000..bc65f1a48 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/indels/ReadBinUnitTest.java @@ -0,0 +1,111 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.gatk.walkers.indels; + +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.ReadUtils; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +/** + * User: carneiro + * Date: 2/16/13 + * Time: 11:48 PM + */ +public class ReadBinUnitTest { + private GenomeLocParser parser; + private ReadBin readBin; + + private final int readLength = 100; // all reads will have the same size + private final int referencePadding = 10; // standard reference padding + + @BeforeClass + public void init() { + parser = new GenomeLocParser(ArtificialSAMUtils.createArtificialSamHeader().getSequenceDictionary()); + readBin = new ReadBin(parser, referencePadding); + } + + @DataProvider(name = "reads") + public Object[][] reads() { + + return new Object[][]{ + {"20S80M", 80}, + {"80M20S", 1}, + {"20S60M20S", 50}, + {"100M", 500} + }; + } + + /** + * Tests the GenomeLoc variable in the ReadBin after adding arbitrary reads + * + * @param cigarString the read's cigar string + * @param alignmentStart the read's alignment start + */ + @Test(enabled = true, dataProvider = "reads") + public void testAddingReads(String cigarString, int alignmentStart) { + final GATKSAMRecord read = createReadAndAddToBin(cigarString, alignmentStart); + final GenomeLoc readLoc = parser.createGenomeLoc(read.getReferenceName(), read.getReferenceIndex(), read.getSoftStart(), read.getSoftEnd()); + Assert.assertEquals(readBin.getLocation(), readLoc); + readBin.clear(); + } + + public GATKSAMRecord createReadAndAddToBin(String cigarString, int alignmentStart) { + final GATKSAMRecord read = ReadUtils.createRandomRead(readLength); + read.setCigarString(cigarString); + read.setAlignmentStart(alignmentStart); + readBin.add(read); + return read; + } +} + + diff --git a/protected/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java b/protected/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java index 31ed3dcc8..6d38940bc 100644 --- a/protected/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariantsUnitTest.java @@ -62,6 +62,27 @@ import java.util.*; */ public class CombineVariantsUnitTest { + public static int VCF4headerStringCount = 16; + + public static String VCF4headerStrings = + "##fileformat=VCFv4.0\n"+ + "##filedate=2010-06-21\n"+ + "##reference=NCBI36\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##INFO=\n"+ + "##FILTER=\n"+ + "##FORMAT=\n"+ + "##FORMAT=\n"+ + "##FORMAT=\n"+ + "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\n"; + // this header is a small subset of the header in VCFHeaderUnitTest: VCF4headerStrings public static String VCF4headerStringsSmallSubset = "##fileformat=VCFv4.0\n" + @@ -159,34 +180,34 @@ public class CombineVariantsUnitTest { @Test public void testHeadersWhereOneIsAStrictSubsetOfTheOther() { - VCFHeader one = createHeader(VCFHeaderUnitTest.VCF4headerStrings); + VCFHeader one = createHeader(VCF4headerStrings); VCFHeader two = createHeader(VCF4headerStringsSmallSubset); ArrayList headers = new ArrayList(); headers.add(one); headers.add(two); Set lines = VCFUtils.smartMergeHeaders(headers, false); - Assert.assertEquals(lines.size(), VCFHeaderUnitTest.VCF4headerStringCount); + Assert.assertEquals(lines.size(), VCF4headerStringCount); } @Test(expectedExceptions=IllegalStateException.class) public void testHeadersInfoDifferentValues() { - VCFHeader one = createHeader(VCFHeaderUnitTest.VCF4headerStrings); + VCFHeader one = createHeader(VCF4headerStrings); VCFHeader two = createHeader(VCF4headerStringsBrokenInfo); ArrayList headers = new ArrayList(); headers.add(one); headers.add(two); Set lines = VCFUtils.smartMergeHeaders(headers, false); - Assert.assertEquals(lines.size(), VCFHeaderUnitTest.VCF4headerStringCount); + Assert.assertEquals(lines.size(), VCF4headerStringCount); } @Test public void testHeadersFormatDifferentValues() { - VCFHeader one = createHeader(VCFHeaderUnitTest.VCF4headerStrings); + VCFHeader one = createHeader(VCF4headerStrings); VCFHeader two = createHeader(VCF4headerStringsBrokenFormat); ArrayList headers = new ArrayList(); headers.add(one); headers.add(two); Set lines = VCFUtils.smartMergeHeaders(headers, false); - Assert.assertEquals(lines.size(), VCFHeaderUnitTest.VCF4headerStringCount); + Assert.assertEquals(lines.size(), VCF4headerStringCount); } } diff --git a/protected/java/test/org/broadinstitute/sting/utils/ContigComparatorUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/ContigComparatorUnitTest.java new file mode 100644 index 000000000..e5df1a349 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/utils/ContigComparatorUnitTest.java @@ -0,0 +1,124 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.utils; + +import net.sf.picard.reference.IndexedFastaSequenceFile; +import net.sf.samtools.SAMSequenceDictionary; +import net.sf.samtools.SAMSequenceRecord; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.FileNotFoundException; +import java.util.*; + +public class ContigComparatorUnitTest extends BaseTest { + SAMSequenceDictionary dictForFails; + + @BeforeClass + public void setup() throws FileNotFoundException { + // sequence + final IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(b37KGReference)); + final GenomeLocParser genomeLocParser = new GenomeLocParser(seq); + dictForFails = genomeLocParser.getContigs(); + } + + @DataProvider(name = "MyDataProvider") + public Object[][] makeMyDataProvider() throws Exception { + List tests = new ArrayList(); + + for ( final String ref : Arrays.asList(b37KGReference, hg18Reference) ) { + final IndexedFastaSequenceFile seq = new CachingIndexedFastaSequenceFile(new File(ref)); + final GenomeLocParser genomeLocParser = new GenomeLocParser(seq); + final SAMSequenceDictionary dict = genomeLocParser.getContigs(); + + for ( final SAMSequenceRecord rec1 : dict.getSequences() ) { + for ( final SAMSequenceRecord rec2 : dict.getSequences() ) { + final int expected = Integer.valueOf(rec1.getSequenceIndex()).compareTo(rec2.getSequenceIndex()); + tests.add(new Object[]{dict, rec1.getSequenceName(), rec2.getSequenceName(), expected}); + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "MyDataProvider") + public void testMyData(final SAMSequenceDictionary dict, final String contig1, final String contig2, final int expected) { + final ContigComparator comparator = new ContigComparator(dict); + final int actual = comparator.compare(contig1, contig2); + if ( expected == 0 ) + Assert.assertEquals(actual, expected, "Failed comparison of equals contigs"); + else if ( expected < 0 ) + Assert.assertTrue(actual < 0, "Failed comparison of contigs where expected < 0 "); + else + Assert.assertTrue(actual > 0, "Failed comparison of contigs where expected > 0 "); + } + + @Test(expectedExceptions = IllegalArgumentException.class) + public void testBadCallWithUnknownContig1() { + final ContigComparator comparator = new ContigComparator(dictForFails); + final int actual = comparator.compare("1", "chr1"); + } + + @Test(expectedExceptions = IllegalArgumentException.class) + public void testBadCallWithUnknownContig2() { + final ContigComparator comparator = new ContigComparator(dictForFails); + final int actual = comparator.compare("chr1", "1"); + } + + @Test(expectedExceptions = IllegalArgumentException.class) + public void testBadCallWithNullContig() { + final ContigComparator comparator = new ContigComparator(dictForFails); + final int actual = comparator.compare(null, "chr1"); + } + +} diff --git a/protected/java/test/org/broadinstitute/sting/utils/SWPairwiseAlignmentUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/SWPairwiseAlignmentUnitTest.java new file mode 100644 index 000000000..6d3c310b7 --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/utils/SWPairwiseAlignmentUnitTest.java @@ -0,0 +1,94 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.utils; + +import org.broadinstitute.sting.BaseTest; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.ArrayList; +import java.util.List; + +public class SWPairwiseAlignmentUnitTest extends BaseTest { + @DataProvider(name = "ComplexReadAlignedToRef") + public Object[][] makeComplexReadAlignedToRef() { + List tests = new ArrayList(); + + final String ref1 = "ACTGACTGACTG"; + tests.add(new Object[]{"AAAGGACTGACTG", ref1, 1, "12M"}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ComplexReadAlignedToRef", enabled = true) + public void testReadAlignedToRefComplexAlignment(final String reference, final String read, final int expectedStart, final String expectedCigar) { + final SWPairwiseAlignment sw = new SWPairwiseAlignment(reference.getBytes(), read.getBytes()); + Assert.assertEquals(sw.getAlignmentStart2wrt1(), expectedStart); + Assert.assertEquals(sw.getCigar().toString(), expectedCigar); + } + + // TODO + // TODO + // TODO this example demonstrates some kind of failure mode of SW that results in the read not being aligned + // TODO to the reference at all. It has something to do with the specific parameters provided to the + // TODO SW code. With the default parameters the result is the one expected. With the specified parameters + // TODO the code fails + // TODO + // TODO + @Test(enabled = false) + public void testOddNoAlignment() { + final String reference = "AAAGACTACTG"; + final String read = "AACGGACACTG"; + final int expectedStart = 0; + final String expectedCigar = "11M"; + final SWPairwiseAlignment sw = new SWPairwiseAlignment(reference.getBytes(), read.getBytes(), 5.0, -10.0, -22.0, -1.2); + sw.printAlignment(reference.getBytes(), read.getBytes()); + Assert.assertEquals(sw.getAlignmentStart2wrt1(), expectedStart); + Assert.assertEquals(sw.getCigar().toString(), expectedCigar); + } +} diff --git a/protected/java/test/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMapUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMapUnitTest.java new file mode 100644 index 000000000..84bdfd19b --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMapUnitTest.java @@ -0,0 +1,241 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.utils.genotyper; + +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.variant.variantcontext.Allele; +import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.variant.variantcontext.Allele; +import org.broadinstitute.sting.utils.Utils; +import java.util.Map; +import java.util.List; +import org.testng.Assert; +import org.testng.annotations.Test; +import net.sf.picard.reference.IndexedFastaSequenceFile; +import net.sf.samtools.SAMFileHeader; +import net.sf.samtools.SAMFileReader; +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.activeregion.ActiveRegion; +import org.broadinstitute.sting.utils.activeregion.ActivityProfileState; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; +import org.broadinstitute.sting.utils.sam.ArtificialBAMBuilder; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.sam.GATKSamRecordFactory; +import org.broadinstitute.variant.variantcontext.Allele; +import org.broadinstitute.variant.variantcontext.VariantContext; +import org.broadinstitute.variant.variantcontext.VariantContextBuilder; +import org.broadinstitute.variant.vcf.VCFCodec; +import java.io.File; +import java.io.FileNotFoundException; +import java.util.*; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; + +public class PerReadAlleleLikelihoodMapUnitTest extends BaseTest { + + // example genome loc parser for this test, can be deleted if you don't use the reference + private GenomeLocParser genomeLocParser; + + // example fasta index file, can be deleted if you don't use the reference + private IndexedFastaSequenceFile seq; + + @BeforeClass + public void setup() throws FileNotFoundException { + // sequence + seq = new CachingIndexedFastaSequenceFile(new File(b37KGReference)); + genomeLocParser = new GenomeLocParser(seq); + } + + @Test() + public void testMultiAlleleWithHomLiks() { + final SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(seq.getSequenceDictionary()); + final GenomeLoc myLocation = genomeLocParser.createGenomeLoc("1", 10); + + final int pileupSize = 100; + final int readLength = 10; + final List reads = new LinkedList(); + for ( int i = 0; i < pileupSize; i++ ) { + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead" + i, 0, 1, readLength); + final byte[] bases = Utils.dupBytes((byte)'A', readLength); + bases[0] = (byte)(i % 2 == 0 ? 'A' : 'C'); // every other read the first base is a C + + // set the read's bases and quals + read.setReadBases(bases); + read.setBaseQualities(Utils.dupBytes((byte)30, readLength)); + reads.add(read); + } + + // create a pileup with all reads having offset 0 + final ReadBackedPileup pileup = new ReadBackedPileupImpl(myLocation, reads, 0); + Allele base_A = Allele.create(BaseUtils.Base.A.base); + Allele base_C = Allele.create(BaseUtils.Base.C.base); + Allele base_T = Allele.create(BaseUtils.Base.T.base); + + PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = new PerReadAlleleLikelihoodMap(); + for ( final PileupElement e : pileup ) { + for ( final Allele allele : Arrays.asList(base_A,base_C,base_T) ) { + Double likelihood = allele == base_A ? -0.04 : -3.0; + perReadAlleleLikelihoodMap.add(e,allele,likelihood); + } + } + + Assert.assertEquals(perReadAlleleLikelihoodMap.size(),pileup.depthOfCoverage()); + Assert.assertEquals(perReadAlleleLikelihoodMap.getAlleleStratifiedReadMap().keySet().size(),3); + Map> shouldBeAllA = perReadAlleleLikelihoodMap.getAlleleStratifiedReadMap(); + Assert.assertEquals(shouldBeAllA.get(base_A).size(),pileup.depthOfCoverage()); + Assert.assertEquals(shouldBeAllA.get(base_C).size(),0); + Assert.assertEquals(shouldBeAllA.get(base_T).size(),0); + } + + + @Test() + public void testMultiAlleleWithHetLiks() { + final SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(seq.getSequenceDictionary()); + final GenomeLoc myLocation = genomeLocParser.createGenomeLoc("1", 10); + + final int pileupSize = 100; + final int readLength = 10; + final List reads = new LinkedList(); + for ( int i = 0; i < pileupSize; i++ ) { + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead" + i, 0, 1, readLength); + final byte[] bases = Utils.dupBytes((byte)'A', readLength); + bases[0] = (byte)(i % 2 == 0 ? 'A' : 'C'); // every other base is a C + + // set the read's bases and quals + read.setReadBases(bases); + read.setBaseQualities(Utils.dupBytes((byte)30, readLength)); + reads.add(read); + } + + // create a pileup with all reads having offset 0 + final ReadBackedPileup pileup = new ReadBackedPileupImpl(myLocation, reads, 0); + Allele base_A = Allele.create(BaseUtils.Base.A.base); + Allele base_C = Allele.create(BaseUtils.Base.C.base); + Allele base_T = Allele.create(BaseUtils.Base.T.base); + + PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = new PerReadAlleleLikelihoodMap(); + int idx = 0; + for ( final PileupElement e : pileup ) { + for ( final Allele allele : Arrays.asList(base_A,base_C,base_T) ) { + Double likelihood; + if ( idx % 2 == 0 ) + likelihood = allele == base_A ? -0.04 : -3.0; + else + likelihood = allele == base_C ? -0.04 : -3.0; + perReadAlleleLikelihoodMap.add(e,allele,likelihood); + } + idx++; + } + + Assert.assertEquals(perReadAlleleLikelihoodMap.size(),pileup.depthOfCoverage()); + Assert.assertEquals(perReadAlleleLikelihoodMap.getAlleleStratifiedReadMap().keySet().size(),3); + Map> halfAhalfC = perReadAlleleLikelihoodMap.getAlleleStratifiedReadMap(); + Assert.assertEquals(halfAhalfC.get(base_A).size(),pileup.depthOfCoverage()/2); + Assert.assertEquals(halfAhalfC.get(base_C).size(),pileup.depthOfCoverage()/2); + Assert.assertEquals(halfAhalfC.get(base_T).size(),0); + + // make sure the likelihoods are retrievable + + idx = 0; + for ( final PileupElement e : pileup ) { + Assert.assertTrue(perReadAlleleLikelihoodMap.containsPileupElement(e)); + Map likelihoods = perReadAlleleLikelihoodMap.getLikelihoodsAssociatedWithPileupElement(e); + for ( final Allele allele : Arrays.asList(base_A,base_C,base_T) ) { + Double expLik; + if ( idx % 2 == 0 ) + expLik = allele == base_A ? -0.04 : -3.0; + else + expLik = allele == base_C ? -0.04 : -3.0; + Assert.assertEquals(likelihoods.get(allele),expLik); + } + idx++; + } + + // and test downsampling for good measure + + final List excessReads = new LinkedList(); + int prevSize = perReadAlleleLikelihoodMap.size(); + for ( int i = 0; i < 10 ; i++ ) { + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myExcessRead" + i, 0, 1, readLength); + final byte[] bases = Utils.dupBytes((byte)'A', readLength); + bases[0] = (byte)(i % 2 == 0 ? 'A' : 'C'); // every other base is a C + + // set the read's bases and quals + read.setReadBases(bases); + read.setBaseQualities(Utils.dupBytes((byte)30, readLength)); + for ( final Allele allele : Arrays.asList(base_A,base_C,base_T) ) { + perReadAlleleLikelihoodMap.add(read,allele,allele==base_A ? -0.04 : -3.0); + } + Assert.assertEquals(perReadAlleleLikelihoodMap.size(),1+prevSize); + prevSize = perReadAlleleLikelihoodMap.size(); + } + + Assert.assertEquals(perReadAlleleLikelihoodMap.size(),pileup.depthOfCoverage()+10); + Assert.assertEquals(perReadAlleleLikelihoodMap.getAlleleStratifiedReadMap().get(base_A).size(),60); + perReadAlleleLikelihoodMap.performPerAlleleDownsampling(0.1,null); + Assert.assertEquals(perReadAlleleLikelihoodMap.size(),(int) (0.9*(pileup.depthOfCoverage()+10))); + + Map> downsampledStrat = perReadAlleleLikelihoodMap.getAlleleStratifiedReadMap(); + Assert.assertEquals(downsampledStrat.get(base_A).size(),(int) (pileup.depthOfCoverage()/2) - 1); + Assert.assertEquals(downsampledStrat.get(base_C).size(),(int) (pileup.depthOfCoverage()/2)); + Assert.assertEquals(downsampledStrat.get(base_T).size(),0); + + + } +} \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerIntegrationTest.java b/protected/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerIntegrationTest.java new file mode 100644 index 000000000..555c02cde --- /dev/null +++ b/protected/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerIntegrationTest.java @@ -0,0 +1,99 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. 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This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.utils.nanoScheduler; + +import org.broadinstitute.sting.WalkerTest; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; + +// ********************************************************************************** // +// Note that this class also serves as an integration test for the VariantAnnotator! // +// ********************************************************************************** // + +public class NanoSchedulerIntegrationTest extends WalkerTest { + @DataProvider(name = "NanoSchedulerUGTest") + public Object[][] createNanoSchedulerUGTest() { + List tests = new ArrayList(); + + for ( final int nt : Arrays.asList(1, 2) ) + for ( final int nct : Arrays.asList(1, 2) ) { +// tests.add(new Object[]{ "SNP", "a1c7546f32a8919a3f3a70a04b2e8322", nt, nct }); +//// tests.add(new Object[]{ "INDEL", "0a6d2be79f4f8a4b0eb788cc4751b31b", nt, nct }); + tests.add(new Object[]{ "BOTH", "85fc5d6dfeb60ed89763470f4b4c981e", nt, nct }); + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = true, dataProvider = "NanoSchedulerUGTest") + private void testNanoSchedulerUGTest(final String glm, final String md5, final int nt, final int nct ) { + WalkerTestSpec spec = new WalkerTestSpec( + buildCommandLine( + "-T UnifiedGenotyper -R " + b37KGReference, + "--no_cmdline_in_header -G", + //"--dbsnp " + b37dbSNP132, + "-I " + privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", + "-L 20:10,000,000-10,100,000", + "-glm " + glm, + "--contamination_fraction_to_filter 0.0", + "-nt " + nt, + "-nct " + nct, + "-o %s" + ), + 1, + Arrays.asList(md5) + ); + executeTest(String.format("testUG-glm:%s-nt%d-nct%d", glm, nt, nct), spec); + } + + + +} diff --git a/protected/java/test/org/broadinstitute/sting/utils/pairhmm/PairHMMUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/pairhmm/PairHMMUnitTest.java index 87e208af4..c94674c98 100644 --- a/protected/java/test/org/broadinstitute/sting/utils/pairhmm/PairHMMUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/utils/pairhmm/PairHMMUnitTest.java @@ -50,20 +50,31 @@ package org.broadinstitute.sting.utils.pairhmm; // the imports for unit testing. import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.Utils; import org.testng.Assert; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; -import java.util.*; +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; +import java.util.Random; public class PairHMMUnitTest extends BaseTest { + private final static boolean ALLOW_READS_LONGER_THAN_HAPLOTYPE = true; + private final static boolean DEBUG = false; final static boolean EXTENSIVE_TESTING = true; - PairHMM exactHMM = new ExactPairHMM(); // the log truth implementation - PairHMM originalHMM = new OriginalPairHMM(); // the reference implementation - PairHMM cachingHMM = new CachingPairHMM(); - PairHMM loglessHMM = new LoglessCachingPairHMM(); + final PairHMM exactHMM = new Log10PairHMM(true); // the log truth implementation + final PairHMM originalHMM = new Log10PairHMM(false); // the reference implementation + final PairHMM loglessHMM = new LoglessCachingPairHMM(); + + private List getHMMs() { + return Arrays.asList(exactHMM, originalHMM, loglessHMM); + } // -------------------------------------------------------------------------------- // @@ -71,11 +82,12 @@ public class PairHMMUnitTest extends BaseTest { // // -------------------------------------------------------------------------------- - private class BasicLikelihoodTestProvider extends TestDataProvider { + private class BasicLikelihoodTestProvider { final String ref, read; final byte[] refBasesWithContext, readBasesWithContext; final int baseQual, insQual, delQual, gcp; final int expectedQual; + final boolean left, right; final static String CONTEXT = "ACGTAATGACGATTGCA"; final static String LEFT_FLANK = "GATTTATCATCGAGTCTGC"; final static String RIGHT_FLANK = "CATGGATCGTTATCAGCTATCTCGAGGGATTCACTTAACAGTTTTA"; @@ -85,7 +97,6 @@ public class PairHMMUnitTest extends BaseTest { } public BasicLikelihoodTestProvider(final String ref, final String read, final int baseQual, final int insQual, final int delQual, final int expectedQual, final int gcp, final boolean left, final boolean right) { - super(BasicLikelihoodTestProvider.class, String.format("ref=%s read=%s b/i/d/c quals = %d/%d/%d/%d l/r flank = %b/%b e[qual]=%d", ref, read, baseQual, insQual, delQual, gcp, left, right, expectedQual)); this.baseQual = baseQual; this.delQual = delQual; this.insQual = insQual; @@ -93,13 +104,30 @@ public class PairHMMUnitTest extends BaseTest { this.read = read; this.ref = ref; this.expectedQual = expectedQual; + this.left = left; + this.right = right; refBasesWithContext = asBytes(ref, left, right); readBasesWithContext = asBytes(read, false, false); } - public double expectedLogL() { - return (expectedQual / -10.0) + 0.03 ; + @Override + public String toString() { + return String.format("ref=%s read=%s b/i/d/c quals = %d/%d/%d/%d l/r flank = %b/%b e[qual]=%d", ref, read, baseQual, insQual, delQual, gcp, left, right, expectedQual); + } + + public double expectedLogL(final PairHMM hmm) { + return (expectedQual / -10.0) + 0.03 + + hmm.getNPotentialXStartsLikelihoodPenaltyLog10(refBasesWithContext.length, readBasesWithContext.length); + } + + public double getTolerance(final PairHMM hmm) { + if ( hmm instanceof LoglessCachingPairHMM ) + return toleranceFromExact(); + if ( hmm instanceof Log10PairHMM ) { + return ((Log10PairHMM)hmm).isDoingExactLog10Calculations() ? toleranceFromExact() : toleranceFromReference(); + } else + return toleranceFromTheoretical(); } public double toleranceFromTheoretical() { @@ -107,7 +135,7 @@ public class PairHMMUnitTest extends BaseTest { } public double toleranceFromReference() { - return 1E-4; + return 1E-3; // has to be very tolerant -- this approximation is quite approximate } public double toleranceFromExact() { @@ -115,7 +143,7 @@ public class PairHMMUnitTest extends BaseTest { } public double calcLogL( final PairHMM pairHMM, boolean anchorIndel ) { - pairHMM.initialize(readBasesWithContext.length, refBasesWithContext.length); + pairHMM.initialize(refBasesWithContext.length, readBasesWithContext.length); return pairHMM.computeReadLikelihoodGivenHaplotypeLog10( refBasesWithContext, readBasesWithContext, qualAsBytes(baseQual, false, anchorIndel), qualAsBytes(insQual, true, anchorIndel), qualAsBytes(delQual, true, anchorIndel), @@ -157,6 +185,8 @@ public class PairHMMUnitTest extends BaseTest { final List gcps = EXTENSIVE_TESTING ? Arrays.asList(8, 10, 20) : Arrays.asList(10); final List sizes = EXTENSIVE_TESTING ? Arrays.asList(2,3,4,5,7,8,9,10,20,30,35) : Arrays.asList(2); + final List tests = new ArrayList(); + for ( final int baseQual : baseQuals ) { for ( final int indelQual : indelQuals ) { for ( final int gcp : gcps ) { @@ -167,7 +197,7 @@ public class PairHMMUnitTest extends BaseTest { final String ref = new String(new byte[]{refBase}); final String read = new String(new byte[]{readBase}); final int expected = refBase == readBase ? 0 : baseQual; - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp); + tests.add(new Object[]{new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp)}); } } @@ -183,10 +213,10 @@ public class PairHMMUnitTest extends BaseTest { final String ref = insertionP ? small : big; final String read = insertionP ? big : small; - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp); - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp, true, false); - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp, false, true); - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp, true, true); + tests.add(new Object[]{new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp)}); + tests.add(new Object[]{new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp, true, false)}); + tests.add(new Object[]{new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp, false, true)}); + tests.add(new Object[]{new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, expected, gcp, true, true)}); } } } @@ -194,19 +224,20 @@ public class PairHMMUnitTest extends BaseTest { } } - return BasicLikelihoodTestProvider.getTests(BasicLikelihoodTestProvider.class); + return tests.toArray(new Object[][]{}); } - final Random random = new Random(87860573); @DataProvider(name = "OptimizedLikelihoodTestProvider") public Object[][] makeOptimizedLikelihoodTests() { - // context on either side is ACGTTGCA REF ACGTTGCA - // test all combinations + GenomeAnalysisEngine.resetRandomGenerator(); + final Random random = GenomeAnalysisEngine.getRandomGenerator(); final List baseQuals = EXTENSIVE_TESTING ? Arrays.asList(10, 30, 40, 60) : Arrays.asList(30); final List indelQuals = EXTENSIVE_TESTING ? Arrays.asList(20, 40, 60) : Arrays.asList(40); final List gcps = EXTENSIVE_TESTING ? Arrays.asList(10, 20, 30) : Arrays.asList(10); final List sizes = EXTENSIVE_TESTING ? Arrays.asList(3, 20, 50, 90, 160) : Arrays.asList(2); + final List tests = new ArrayList(); + for ( final int baseQual : baseQuals ) { for ( final int indelQual : indelQuals ) { for ( final int gcp : gcps ) { @@ -220,45 +251,51 @@ public class PairHMMUnitTest extends BaseTest { for( int iii = 0; iii < readSize; iii++) { read += (char) BaseUtils.BASES[random.nextInt(4)]; } - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, -0, gcp); - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, -0, gcp, true, false); - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, -0, gcp, false, true); - new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, -0, gcp, true, true); + + for ( final boolean leftFlank : Arrays.asList(true, false) ) + for ( final boolean rightFlank : Arrays.asList(true, false) ) + tests.add(new Object[]{new BasicLikelihoodTestProvider(ref, read, baseQual, indelQual, indelQual, -0, gcp, leftFlank, rightFlank)}); } } } } } - return BasicLikelihoodTestProvider.getTests(BasicLikelihoodTestProvider.class); + return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "BasicLikelihoodTestProvider", enabled = true) + @Test(enabled = !DEBUG, dataProvider = "BasicLikelihoodTestProvider") public void testBasicLikelihoods(BasicLikelihoodTestProvider cfg) { - double exactLogL = cfg.calcLogL( exactHMM, true ); - double calculatedLogL = cfg.calcLogL( originalHMM, true ); - double optimizedLogL = cfg.calcLogL( cachingHMM, true ); - double loglessLogL = cfg.calcLogL( loglessHMM, true ); - double expectedLogL = cfg.expectedLogL(); - //logger.warn(String.format("Test: logL calc=%.2f optimized=%.2f logless=%.2f expected=%.2f for %s", calculatedLogL, optimizedLogL, loglessLogL, expectedLogL, cfg.toString())); - Assert.assertEquals(exactLogL, expectedLogL, cfg.toleranceFromTheoretical()); - Assert.assertEquals(calculatedLogL, expectedLogL, cfg.toleranceFromTheoretical()); - Assert.assertEquals(optimizedLogL, calculatedLogL, cfg.toleranceFromReference()); - Assert.assertEquals(loglessLogL, exactLogL, cfg.toleranceFromExact()); + if ( ALLOW_READS_LONGER_THAN_HAPLOTYPE || cfg.read.length() <= cfg.ref.length() ) { + final double exactLogL = cfg.calcLogL( exactHMM, true ); + for ( final PairHMM hmm : getHMMs() ) { + double actualLogL = cfg.calcLogL( hmm, true ); + double expectedLogL = cfg.expectedLogL(hmm); + + // compare to our theoretical expectation with appropriate tolerance + Assert.assertEquals(actualLogL, expectedLogL, cfg.toleranceFromTheoretical(), "Failed with hmm " + hmm); + // compare to the exact reference implementation with appropriate tolerance + Assert.assertEquals(actualLogL, exactLogL, cfg.getTolerance(hmm), "Failed with hmm " + hmm); + Assert.assertTrue(MathUtils.goodLog10Probability(actualLogL), "Bad log10 likelihood " + actualLogL); + } + } } - @Test(dataProvider = "OptimizedLikelihoodTestProvider", enabled = true) + @Test(enabled = !DEBUG, dataProvider = "OptimizedLikelihoodTestProvider") public void testOptimizedLikelihoods(BasicLikelihoodTestProvider cfg) { - double exactLogL = cfg.calcLogL( exactHMM, false ); - double calculatedLogL = cfg.calcLogL( originalHMM, false ); - double optimizedLogL = cfg.calcLogL( cachingHMM, false ); - double loglessLogL = cfg.calcLogL( loglessHMM, false ); - //logger.warn(String.format("Test: logL calc=%.2f optimized=%.2f logless=%.2f expected=%.2f for %s", calculatedLogL, optimizedLogL, loglessLogL, expectedLogL, cfg.toString())); - Assert.assertEquals(optimizedLogL, calculatedLogL, cfg.toleranceFromReference()); - Assert.assertEquals(loglessLogL, exactLogL, cfg.toleranceFromExact()); + if ( ALLOW_READS_LONGER_THAN_HAPLOTYPE || cfg.read.length() <= cfg.ref.length() ) { + double exactLogL = cfg.calcLogL( exactHMM, false ); + + for ( final PairHMM hmm : getHMMs() ) { + double calculatedLogL = cfg.calcLogL( hmm, false ); + // compare to the exact reference implementation with appropriate tolerance + Assert.assertEquals(calculatedLogL, exactLogL, cfg.getTolerance(hmm), String.format("Test: logL calc=%.2f expected=%.2f for %s with hmm %s", calculatedLogL, exactLogL, cfg.toString(), hmm)); + Assert.assertTrue(MathUtils.goodLog10Probability(calculatedLogL), "Bad log10 likelihood " + calculatedLogL); + } + } } - @Test + @Test(enabled = !DEBUG) public void testMismatchInEveryPositionInTheReadWithCenteredHaplotype() { byte[] haplotype1 = "TTCTCTTCTGTTGTGGCTGGTT".getBytes(); @@ -277,7 +314,7 @@ public class PairHMMUnitTest extends BaseTest { byte[] mread = Arrays.copyOfRange(haplotype1,offset,haplotype1.length-offset); // change single base at position k to C. If it's a C, change to T mread[k] = ( mread[k] == (byte)'C' ? (byte)'T' : (byte)'C'); - originalHMM.initialize(mread.length, haplotype1.length); + originalHMM.initialize(haplotype1.length, mread.length); double res1 = originalHMM.computeReadLikelihoodGivenHaplotypeLog10( haplotype1, mread, quals, gop, gop, @@ -285,11 +322,12 @@ public class PairHMMUnitTest extends BaseTest { System.out.format("H:%s\nR: %s\n Pos:%d Result:%4.2f\n",new String(haplotype1), new String(mread), k,res1); - Assert.assertEquals(res1, -2.0, 1e-2); + // - log10 is because of number of start positions + Assert.assertEquals(res1, -2.0 - Math.log10(originalHMM.getNPotentialXStarts(haplotype1.length, mread.length)), 1e-2); } } - @Test + @Test(enabled = ! DEBUG) public void testMismatchInEveryPositionInTheRead() { byte[] haplotype1 = "TTCTCTTCTGTTGTGGCTGGTT".getBytes(); @@ -308,7 +346,7 @@ public class PairHMMUnitTest extends BaseTest { byte[] mread = Arrays.copyOfRange(haplotype1,offset,haplotype1.length); // change single base at position k to C. If it's a C, change to T mread[k] = ( mread[k] == (byte)'C' ? (byte)'T' : (byte)'C'); - originalHMM.initialize(mread.length, haplotype1.length); + originalHMM.initialize(haplotype1.length, mread.length); double res1 = originalHMM.computeReadLikelihoodGivenHaplotypeLog10( haplotype1, mread, quals, gop, gop, @@ -316,7 +354,298 @@ public class PairHMMUnitTest extends BaseTest { System.out.format("H:%s\nR: %s\n Pos:%d Result:%4.2f\n",new String(haplotype1), new String(mread), k,res1); - Assert.assertEquals(res1, -2.0, 1e-2); + // - log10 is because of number of start positions + Assert.assertEquals(res1, -2.0 - Math.log10(originalHMM.getNPotentialXStarts(haplotype1.length, mread.length)), 1e-2); } } + + @DataProvider(name = "HMMProvider") + public Object[][] makeHMMProvider() { + List tests = new ArrayList(); + + for ( final int readSize : Arrays.asList(1, 2, 5, 10) ) { + for ( final int refSize : Arrays.asList(1, 2, 5, 10) ) { + if ( refSize > readSize ) { + for ( final PairHMM hmm : getHMMs() ) + tests.add(new Object[]{hmm, readSize, refSize}); + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "HMMProvider") + void testMultipleReadMatchesInHaplotype(final PairHMM hmm, final int readSize, final int refSize) { + byte[] readBases = Utils.dupBytes((byte)'A', readSize); + byte[] refBases = ("CC" + new String(Utils.dupBytes((byte)'A', refSize)) + "GGA").getBytes(); + byte baseQual = 20; + byte insQual = 37; + byte delQual = 37; + byte gcp = 10; + hmm.initialize(refBases.length, readBases.length); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + Utils.dupBytes(baseQual, readBases.length), + Utils.dupBytes(insQual, readBases.length), + Utils.dupBytes(delQual, readBases.length), + Utils.dupBytes(gcp, readBases.length), 0, true); + Assert.assertTrue(d <= 0.0, "Likelihoods should be <= 0 but got "+ d); + } + + @Test(enabled = !DEBUG, dataProvider = "HMMProvider") + void testAllMatchingRead(final PairHMM hmm, final int readSize, final int refSize) { + byte[] readBases = Utils.dupBytes((byte)'A', readSize); + byte[] refBases = Utils.dupBytes((byte)'A', refSize); + byte baseQual = 20; + byte insQual = 100; + byte delQual = 100; + byte gcp = 100; + hmm.initialize(refBases.length, readBases.length); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + Utils.dupBytes(baseQual, readBases.length), + Utils.dupBytes(insQual, readBases.length), + Utils.dupBytes(delQual, readBases.length), + Utils.dupBytes(gcp, readBases.length), 0, true); + final double expected = Math.log10(Math.pow(1.0 - QualityUtils.qualToErrorProb(baseQual), readBases.length)); + Assert.assertEquals(d, expected, 1e-3, "Likelihoods should sum to just the error prob of the read"); + } + + @DataProvider(name = "HMMProviderWithBigReads") + public Object[][] makeBigReadHMMProvider() { + List tests = new ArrayList(); + + final String read1 = "ACCAAGTAGTCACCGT"; + final String ref1 = "ACCAAGTAGTCACCGTAACG"; + + for ( final int nReadCopies : Arrays.asList(1, 2, 10, 20, 50) ) { + for ( final int nRefCopies : Arrays.asList(1, 2, 10, 20, 100) ) { + if ( nRefCopies > nReadCopies ) { + for ( final PairHMM hmm : getHMMs() ) { + final String read = Utils.dupString(read1, nReadCopies); + final String ref = Utils.dupString(ref1, nRefCopies); + tests.add(new Object[]{hmm, read, ref}); + } + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "HMMProviderWithBigReads") + void testReallyBigReads(final PairHMM hmm, final String read, final String ref) { + byte[] readBases = read.getBytes(); + byte[] refBases = ref.getBytes(); + byte baseQual = 30; + byte insQual = 40; + byte delQual = 40; + byte gcp = 10; + hmm.initialize(refBases.length, readBases.length); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + Utils.dupBytes(baseQual, readBases.length), + Utils.dupBytes(insQual, readBases.length), + Utils.dupBytes(delQual, readBases.length), + Utils.dupBytes(gcp, readBases.length), 0, true); + Assert.assertTrue(MathUtils.goodLog10Probability(d), "Likelihoods = " + d +" was bad for a read with " + read.length() + " bases and ref with " + ref.length() + " bases"); + } + + @Test(enabled = !DEBUG) + void testPreviousBadValue() { + byte[] readBases = "A".getBytes(); + byte[] refBases = "AT".getBytes(); + byte baseQual = 30; + byte insQual = 40; + byte delQual = 40; + byte gcp = 10; + + exactHMM.initialize(refBases.length, readBases.length); + double d = exactHMM.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + Utils.dupBytes(baseQual, readBases.length), + Utils.dupBytes(insQual, readBases.length), + Utils.dupBytes(delQual, readBases.length), + Utils.dupBytes(gcp, readBases.length), 0, true); + //exactHMM.dumpMatrices(); + + loglessHMM.initialize(refBases.length, readBases.length); + double logless = loglessHMM.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + Utils.dupBytes(baseQual, readBases.length), + Utils.dupBytes(insQual, readBases.length), + Utils.dupBytes(delQual, readBases.length), + Utils.dupBytes(gcp, readBases.length), 0, true); + loglessHMM.dumpMatrices(); + } + + @DataProvider(name = "JustHMMProvider") + public Object[][] makeJustHMMProvider() { + List tests = new ArrayList(); + + for ( final PairHMM hmm : getHMMs() ) { + tests.add(new Object[]{hmm}); + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "JustHMMProvider") + void testMaxLengthsBiggerThanProvidedRead(final PairHMM hmm) { + for ( int nExtraMaxSize = 0; nExtraMaxSize < 100; nExtraMaxSize++ ) { + byte[] readBases = "CTATCTTAGTAAGCCCCCATACCTGCAAATTTCAGGATGTCTCCTCCAAAAATCAACA".getBytes(); + byte[] refBases = "CTATCTTAGTAAGCCCCCATACCTGCAAATTTCAGGATGTCTCCTCCAAAAATCAAAACTTCTGAGAAAAAAAAAAAAAATTAAATCAAACCCTGATTCCTTAAAGGTAGTAAAAAAACATCATTCTTTCTTAGTGGAATAGAAACTAGGTCAAAAGAACAGTGATTC".getBytes(); + byte gcp = 10; + + byte[] quals = new byte[]{35,34,31,32,35,34,32,31,36,30,31,32,36,34,33,32,32,32,33,32,30,35,33,35,36,36,33,33,33,32,32,32,37,33,36,35,33,32,34,31,36,35,35,35,35,33,34,31,31,30,28,27,26,29,26,25,29,29}; + byte[] insQual = new byte[]{46,46,46,46,46,47,45,46,45,48,47,44,45,48,46,43,43,42,48,48,45,47,47,48,48,47,48,45,38,47,45,39,47,48,47,47,48,46,49,48,49,48,46,47,48,44,44,43,39,32,34,36,46,48,46,44,45,45}; + byte[] delQual = new byte[]{44,44,44,43,45,44,43,42,45,46,45,43,44,47,45,40,40,40,45,46,43,45,45,44,46,46,46,43,35,44,43,36,44,45,46,46,44,44,47,43,47,45,45,45,46,45,45,46,44,35,35,35,45,47,45,44,44,43}; + + final int maxHaplotypeLength = refBases.length + nExtraMaxSize; + final int maxReadLength = readBases.length + nExtraMaxSize; + + hmm.initialize(maxHaplotypeLength, maxReadLength); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + quals, + insQual, + delQual, + Utils.dupBytes(gcp, readBases.length), 0, true); + Assert.assertTrue(MathUtils.goodLog10Probability(d), "Likelihoods = " + d +" was bad for a read with " + readBases.length + " bases and ref with " + refBases.length + " bases"); + } + } + + @DataProvider(name = "HaplotypeIndexingProvider") + public Object[][] makeHaplotypeIndexingProvider() { + List tests = new ArrayList(); + + final String root1 = "ACGTGTCAAACCGGGTT"; + final String root2 = "ACGTGTCACACTGGGTT"; // differs in two locations + + final String read1 = "ACGTGTCACACTGGATT"; // 1 diff from 2, 2 diff from root1 + final String read2 = root1; // same as root1 + final String read3 = root2; // same as root2 + final String read4 = "ACGTGTCACACTGGATTCGAT"; + final String read5 = "CCAGTAACGTGTCACACTGGATTCGAT"; + +// for ( final String read : Arrays.asList(read2) ) { + for ( final String read : Arrays.asList(read1, read2, read3, read4, read5) ) { + for ( final PairHMM hmm : getHMMs() ) { +// int readLength = read.length(); { + for ( int readLength = 10; readLength < read.length(); readLength++ ) { + final String myRead = read.substring(0, readLength); + tests.add(new Object[]{hmm, root1, root2, myRead}); + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "HaplotypeIndexingProvider") + void testHaplotypeIndexing(final PairHMM hmm, final String root1, final String root2, final String read) { + final double TOLERANCE = 1e-9; + final String prefix = "AACCGGTTTTTGGGCCCAAACGTACGTACAGTTGGTCAACATCGATCAGGTTCCGGAGTAC"; + + final int maxReadLength = read.length(); + final int maxHaplotypeLength = prefix.length() + root1.length(); + + // the initialization occurs once, at the start of the evalution of reads + hmm.initialize(maxHaplotypeLength, maxReadLength); + + for ( int prefixStart = prefix.length(); prefixStart >= 0; prefixStart-- ) { + final String myPrefix = prefix.substring(prefixStart, prefix.length()); + final String hap1 = myPrefix + root1; + final String hap2 = myPrefix + root2; + + final int hapStart = PairHMM.findFirstPositionWhereHaplotypesDiffer(hap1.getBytes(), hap2.getBytes()); + + final double actual1 = testHaplotypeIndexingCalc(hmm, hap1, read, 0, true); + final double actual2 = testHaplotypeIndexingCalc(hmm, hap2, read, hapStart, false); + final double expected2 = testHaplotypeIndexingCalc(hmm, hap2, read, 0, true); + Assert.assertEquals(actual2, expected2, TOLERANCE, "Caching calculation failed for read " + read + " against haplotype with prefix '" + myPrefix + + "' expected " + expected2 + " but got " + actual2 + " with hapStart of " + hapStart); + } + } + + private double testHaplotypeIndexingCalc(final PairHMM hmm, final String hap, final String read, final int hapStart, final boolean recache) { + final byte[] readBases = read.getBytes(); + final byte[] baseQuals = Utils.dupBytes((byte)30, readBases.length); + final byte[] insQuals = Utils.dupBytes((byte)45, readBases.length); + final byte[] delQuals = Utils.dupBytes((byte)40, readBases.length); + final byte[] gcp = Utils.dupBytes((byte)10, readBases.length); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( + hap.getBytes(), readBases, baseQuals, insQuals, delQuals, gcp, + hapStart, recache); + Assert.assertTrue(MathUtils.goodLog10Probability(d), "Likelihoods = " + d + " was bad for read " + read + " and ref " + hap + " with hapStart " + hapStart); + return d; + } + + @Test(enabled = !DEBUG) + public void testFindFirstPositionWhereHaplotypesDiffer() { + for ( int haplotypeSize1 = 10; haplotypeSize1 < 30; haplotypeSize1++ ) { + for ( int haplotypeSize2 = 10; haplotypeSize2 < 50; haplotypeSize2++ ) { + final int maxLength = Math.max(haplotypeSize1, haplotypeSize2); + final int minLength = Math.min(haplotypeSize1, haplotypeSize2); + for ( int differingSite = 0; differingSite < maxLength + 1; differingSite++) { + for ( final boolean oneIsDiff : Arrays.asList(true, false) ) { + final byte[] hap1 = Utils.dupBytes((byte)'A', haplotypeSize1); + final byte[] hap2 = Utils.dupBytes((byte)'A', haplotypeSize2); + + final int expected = oneIsDiff + ? makeDiff(hap1, differingSite, minLength) + : makeDiff(hap2, differingSite, minLength); + final int actual = PairHMM.findFirstPositionWhereHaplotypesDiffer(hap1, hap2); + Assert.assertEquals(actual, expected, "Bad differing site for " + new String(hap1) + " vs. " + new String(hap2)); + } + } + } + } + } + + private int makeDiff(final byte[] bytes, final int site, final int minSize) { + if ( site < bytes.length ) { + bytes[site] = 'C'; + return Math.min(site, minSize); + } else + return minSize; + } + + @DataProvider(name = "UninitializedHMMs") + public Object[][] makeUninitializedHMMs() { + List tests = new ArrayList(); + + tests.add(new Object[]{new LoglessCachingPairHMM()}); + tests.add(new Object[]{new Log10PairHMM(true)}); + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = true, expectedExceptions = IllegalStateException.class, dataProvider = "UninitializedHMMs") + public void testNoInitializeCall(final PairHMM hmm) { + byte[] readBases = "A".getBytes(); + byte[] refBases = "AT".getBytes(); + byte[] baseQuals = Utils.dupBytes((byte)30, readBases.length); + + // didn't call initialize => should exception out + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + baseQuals, baseQuals, baseQuals, baseQuals, 0, true); + } + + @Test(enabled = true, expectedExceptions = IllegalArgumentException.class, dataProvider = "JustHMMProvider") + public void testHapTooLong(final PairHMM hmm) { + byte[] readBases = "AAA".getBytes(); + byte[] refBases = "AAAT".getBytes(); + byte[] baseQuals = Utils.dupBytes((byte)30, readBases.length); + + hmm.initialize(3, 3); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + baseQuals, baseQuals, baseQuals, baseQuals, 0, true); + } + + @Test(enabled = true, expectedExceptions = IllegalArgumentException.class, dataProvider = "JustHMMProvider") + public void testReadTooLong(final PairHMM hmm) { + byte[] readBases = "AAA".getBytes(); + byte[] refBases = "AAAT".getBytes(); + byte[] baseQuals = Utils.dupBytes((byte)30, readBases.length); + + hmm.initialize(3, 2); + double d = hmm.computeReadLikelihoodGivenHaplotypeLog10( refBases, readBases, + baseQuals, baseQuals, baseQuals, baseQuals, 0, true); + } } \ No newline at end of file diff --git a/protected/java/test/org/broadinstitute/sting/utils/recalibration/QualQuantizerUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/recalibration/QualQuantizerUnitTest.java index 8f228c154..696cf846f 100644 --- a/protected/java/test/org/broadinstitute/sting/utils/recalibration/QualQuantizerUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/utils/recalibration/QualQuantizerUnitTest.java @@ -90,7 +90,7 @@ public class QualQuantizerUnitTest extends BaseTest { this.exError = exError; this.exTotal = exTotal; this.exErrorRate = (leftE + rightE + 1) / (1.0 * (leftN + rightN + 1)); - this.exQual = QualityUtils.probToQual(1-this.exErrorRate, 0); + this.exQual = QualityUtils.errorProbToQual(this.exErrorRate); } } diff --git a/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalDatumUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalDatumUnitTest.java index da78932d1..5b7b95be9 100644 --- a/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalDatumUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalDatumUnitTest.java @@ -50,7 +50,6 @@ package org.broadinstitute.sting.utils.recalibration; // the imports for unit testing. -import org.apache.commons.lang.ArrayUtils; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.QualityUtils; @@ -58,7 +57,6 @@ import org.testng.Assert; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; -import java.util.ArrayList; import java.util.Arrays; import java.util.Collections; @@ -207,8 +205,8 @@ public class RecalDatumUnitTest extends BaseTest { @Test public void testlog10QempPrior() { - for ( int Qemp = 0; Qemp <= QualityUtils.MAX_QUAL_SCORE; Qemp++ ) { - for ( int Qrep = 0; Qrep <= QualityUtils.MAX_QUAL_SCORE; Qrep++ ) { + for ( int Qemp = 0; Qemp <= QualityUtils.MAX_SAM_QUAL_SCORE; Qemp++ ) { + for ( int Qrep = 0; Qrep <= QualityUtils.MAX_SAM_QUAL_SCORE; Qrep++ ) { final double log10prior = RecalDatum.log10QempPrior(Qemp, Qrep); Assert.assertTrue(log10prior < 0.0); Assert.assertFalse(Double.isInfinite(log10prior)); @@ -219,7 +217,7 @@ public class RecalDatumUnitTest extends BaseTest { final int Qrep = 20; int maxQemp = -1; double maxQempValue = -Double.MAX_VALUE; - for ( int Qemp = 0; Qemp <= QualityUtils.MAX_QUAL_SCORE; Qemp++ ) { + for ( int Qemp = 0; Qemp <= QualityUtils.MAX_SAM_QUAL_SCORE; Qemp++ ) { final double log10prior = RecalDatum.log10QempPrior(Qemp, Qrep); if ( log10prior > maxQempValue ) { maxQemp = Qemp; diff --git a/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalibrationReportUnitTest.java b/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalibrationReportUnitTest.java index e82f1338a..7d1e51385 100644 --- a/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalibrationReportUnitTest.java +++ b/protected/java/test/org/broadinstitute/sting/utils/recalibration/RecalibrationReportUnitTest.java @@ -67,7 +67,7 @@ public class RecalibrationReportUnitTest { final Random random = new Random(); final int nObservations = random.nextInt(maxObservations); final int nErrors = Math.min(random.nextInt(maxErrors), nObservations); - final int qual = random.nextInt(QualityUtils.MAX_QUAL_SCORE); + final int qual = random.nextInt(QualityUtils.MAX_SAM_QUAL_SCORE); return new RecalDatum((long)nObservations, (double)nErrors, (byte)qual); } @@ -75,10 +75,10 @@ public class RecalibrationReportUnitTest { public void testOutput() { final int length = 100; - List quals = new ArrayList(QualityUtils.MAX_QUAL_SCORE + 1); - List counts = new ArrayList(QualityUtils.MAX_QUAL_SCORE + 1); + List quals = new ArrayList(QualityUtils.MAX_SAM_QUAL_SCORE + 1); + List counts = new ArrayList(QualityUtils.MAX_SAM_QUAL_SCORE + 1); - for (int i = 0; i<= QualityUtils.MAX_QUAL_SCORE; i++) { + for (int i = 0; i<= QualityUtils.MAX_SAM_QUAL_SCORE; i++) { quals.add((byte) i); counts.add(1L); } diff --git a/protected/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala b/protected/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala new file mode 100644 index 000000000..fdbd7ca1f --- /dev/null +++ b/protected/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala @@ -0,0 +1,117 @@ +/* +* By downloading the PROGRAM you agree to the following terms of use: +* +* BROAD INSTITUTE - SOFTWARE LICENSE AGREEMENT - FOR ACADEMIC NON-COMMERCIAL RESEARCH PURPOSES ONLY +* +* This Agreement is made between the Broad Institute, Inc. with a principal address at 7 Cambridge Center, Cambridge, MA 02142 (BROAD) and the LICENSEE and is effective at the date the downloading is completed (EFFECTIVE DATE). +* +* WHEREAS, LICENSEE desires to license the PROGRAM, as defined hereinafter, and BROAD wishes to have this PROGRAM utilized in the public interest, subject only to the royalty-free, nonexclusive, nontransferable license rights of the United States Government pursuant to 48 CFR 52.227-14; and +* WHEREAS, LICENSEE desires to license the PROGRAM and BROAD desires to grant a license on the following terms and conditions. +* NOW, THEREFORE, in consideration of the promises and covenants made herein, the parties hereto agree as follows: +* +* 1. DEFINITIONS +* 1.1 PROGRAM shall mean copyright in the object code and source code known as GATK2 and related documentation, if any, as they exist on the EFFECTIVE DATE and can be downloaded from http://www.broadinstitute/GATK on the EFFECTIVE DATE. +* +* 2. LICENSE +* 2.1 Grant. Subject to the terms of this Agreement, BROAD hereby grants to LICENSEE, solely for academic non-commercial research purposes, a non-exclusive, non-transferable license to: (a) download, execute and display the PROGRAM and (b) create bug fixes and modify the PROGRAM. +* The LICENSEE may apply the PROGRAM in a pipeline to data owned by users other than the LICENSEE and provide these users the results of the PROGRAM provided LICENSEE does so for academic non-commercial purposes only. For clarification purposes, academic sponsored research is not a commercial use under the terms of this Agreement. +* 2.2 No Sublicensing or Additional Rights. LICENSEE shall not sublicense or distribute the PROGRAM, in whole or in part, without prior written permission from BROAD. LICENSEE shall ensure that all of its users agree to the terms of this Agreement. LICENSEE further agrees that it shall not put the PROGRAM on a network, server, or other similar technology that may be accessed by anyone other than the LICENSEE and its employees and users who have agreed to the terms of this agreement. +* 2.3 License Limitations. Nothing in this Agreement shall be construed to confer any rights upon LICENSEE by implication, estoppel, or otherwise to any computer software, trademark, intellectual property, or patent rights of BROAD, or of any other entity, except as expressly granted herein. LICENSEE agrees that the PROGRAM, in whole or part, shall not be used for any commercial purpose, including without limitation, as the basis of a commercial software or hardware product or to provide services. LICENSEE further agrees that the PROGRAM shall not be copied or otherwise adapted in order to circumvent the need for obtaining a license for use of the PROGRAM. +* +* 3. OWNERSHIP OF INTELLECTUAL PROPERTY +* LICENSEE acknowledges that title to the PROGRAM shall remain with BROAD. The PROGRAM is marked with the following BROAD copyright notice and notice of attribution to contributors. LICENSEE shall retain such notice on all copies. LICENSEE agrees to include appropriate attribution if any results obtained from use of the PROGRAM are included in any publication. +* Copyright 2012 Broad Institute, Inc. +* Notice of attribution: The GATK2 program was made available through the generosity of Medical and Population Genetics program at the Broad Institute, Inc. +* LICENSEE shall not use any trademark or trade name of BROAD, or any variation, adaptation, or abbreviation, of such marks or trade names, or any names of officers, faculty, students, employees, or agents of BROAD except as states above for attribution purposes. +* +* 4. INDEMNIFICATION +* LICENSEE shall indemnify, defend, and hold harmless BROAD, and their respective officers, faculty, students, employees, associated investigators and agents, and their respective successors, heirs and assigns, (Indemnitees), against any liability, damage, loss, or expense (including reasonable attorneys fees and expenses) incurred by or imposed upon any of the Indemnitees in connection with any claims, suits, actions, demands or judgments arising out of any theory of liability (including, without limitation, actions in the form of tort, warranty, or strict liability and regardless of whether such action has any factual basis) pursuant to any right or license granted under this Agreement. +* +* 5. NO REPRESENTATIONS OR WARRANTIES +* THE PROGRAM IS DELIVERED AS IS. BROAD MAKES NO REPRESENTATIONS OR WARRANTIES OF ANY KIND CONCERNING THE PROGRAM OR THE COPYRIGHT, EXPRESS OR IMPLIED, INCLUDING, WITHOUT LIMITATION, WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE, NONINFRINGEMENT, OR THE ABSENCE OF LATENT OR OTHER DEFECTS, WHETHER OR NOT DISCOVERABLE. BROAD EXTENDS NO WARRANTIES OF ANY KIND AS TO PROGRAM CONFORMITY WITH WHATEVER USER MANUALS OR OTHER LITERATURE MAY BE ISSUED FROM TIME TO TIME. +* IN NO EVENT SHALL BROAD OR ITS RESPECTIVE DIRECTORS, OFFICERS, EMPLOYEES, AFFILIATED INVESTIGATORS AND AFFILIATES BE LIABLE FOR INCIDENTAL OR CONSEQUENTIAL DAMAGES OF ANY KIND, INCLUDING, WITHOUT LIMITATION, ECONOMIC DAMAGES OR INJURY TO PROPERTY AND LOST PROFITS, REGARDLESS OF WHETHER BROAD SHALL BE ADVISED, SHALL HAVE OTHER REASON TO KNOW, OR IN FACT SHALL KNOW OF THE POSSIBILITY OF THE FOREGOING. +* +* 6. ASSIGNMENT +* This Agreement is personal to LICENSEE and any rights or obligations assigned by LICENSEE without the prior written consent of BROAD shall be null and void. +* +* 7. MISCELLANEOUS +* 7.1 Export Control. LICENSEE gives assurance that it will comply with all United States export control laws and regulations controlling the export of the PROGRAM, including, without limitation, all Export Administration Regulations of the United States Department of Commerce. Among other things, these laws and regulations prohibit, or require a license for, the export of certain types of software to specified countries. +* 7.2 Termination. LICENSEE shall have the right to terminate this Agreement for any reason upon prior written notice to BROAD. If LICENSEE breaches any provision hereunder, and fails to cure such breach within thirty (30) days, BROAD may terminate this Agreement immediately. Upon termination, LICENSEE shall provide BROAD with written assurance that the original and all copies of the PROGRAM have been destroyed, except that, upon prior written authorization from BROAD, LICENSEE may retain a copy for archive purposes. +* 7.3 Survival. The following provisions shall survive the expiration or termination of this Agreement: Articles 1, 3, 4, 5 and Sections 2.2, 2.3, 7.3, and 7.4. +* 7.4 Notice. Any notices under this Agreement shall be in writing, shall specifically refer to this Agreement, and shall be sent by hand, recognized national overnight courier, confirmed facsimile transmission, confirmed electronic mail, or registered or certified mail, postage prepaid, return receipt requested. All notices under this Agreement shall be deemed effective upon receipt. +* 7.5 Amendment and Waiver; Entire Agreement. This Agreement may be amended, supplemented, or otherwise modified only by means of a written instrument signed by all parties. Any waiver of any rights or failure to act in a specific instance shall relate only to such instance and shall not be construed as an agreement to waive any rights or fail to act in any other instance, whether or not similar. This Agreement constitutes the entire agreement among the parties with respect to its subject matter and supersedes prior agreements or understandings between the parties relating to its subject matter. +* 7.6 Binding Effect; Headings. This Agreement shall be binding upon and inure to the benefit of the parties and their respective permitted successors and assigns. All headings are for convenience only and shall not affect the meaning of any provision of this Agreement. +* 7.7 Governing Law. This Agreement shall be construed, governed, interpreted and applied in accordance with the internal laws of the Commonwealth of Massachusetts, U.S.A., without regard to conflict of laws principles. +*/ + +package org.broadinstitute.sting.queue.pipeline.examples + +import org.testng.annotations.{DataProvider, Test} +import org.broadinstitute.sting.queue.pipeline.{PipelineTest, PipelineTestSpec} +import org.broadinstitute.sting.BaseTest + +class ExampleUnifiedGenotyperPipelineTest { + @Test(timeOut=36000000) + def testUnifiedGenotyper() { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper" + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam", + " -filter QD", + " -filterExpression 'QD < 2.0'").mkString + spec.jobRunners = PipelineTest.allJobRunners + PipelineTest.executeTest(spec) + } + + @DataProvider(name = "ugIntervals") + def getUnifiedGenotyperIntervals = + Array( + Array("gatk_intervals", BaseTest.validationDataLocation + "intervalTest.intervals"), + Array("bed_intervals", BaseTest.validationDataLocation + "intervalTest.bed"), + Array("vcf_intervals", BaseTest.validationDataLocation + "intervalTest.1.vcf") + ).asInstanceOf[Array[Array[Object]]] + + @Test(dataProvider = "ugIntervals", timeOut=36000000) + def testUnifiedGenotyperWithIntervals(intervalsName: String, intervalsPath: String) { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper_with_" + intervalsName + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -I " + BaseTest.validationDataLocation + "OV-0930.normal.chunk.bam", + " -R " + BaseTest.hg18Reference, + " -L " + intervalsPath).mkString + spec.jobRunners = Seq("Lsf706") + PipelineTest.executeTest(spec) + } + + @Test(timeOut=36000000) + def testUnifiedGenotyperNoGCOpt() { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper_no_gc_opt" + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam", + " -noGCOpt").mkString + spec.jobRunners = PipelineTest.allJobRunners + PipelineTest.executeTest(spec) + } + + @DataProvider(name="resMemReqParams") + def getResMemReqParam = Array(Array("mem_free"), Array("virtual_free")).asInstanceOf[Array[Array[Object]]] + + @Test(dataProvider = "resMemReqParams", timeOut=36000000) + def testUnifiedGenotyperResMemReqParam(reqParam: String) { + val spec = new PipelineTestSpec + spec.name = "unifiedgenotyper_" + reqParam + spec.args = Array( + " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", + " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", + " -I " + BaseTest.publicTestDir + "exampleBAM.bam", + " -resMemReqParam " + reqParam).mkString + spec.jobRunners = Seq("GridEngine") + PipelineTest.executeTest(spec) + } +} diff --git a/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java b/public/java/src/org/broadinstitute/sting/alignment/CheckAlignment.java similarity index 96% rename from public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java rename to public/java/src/org/broadinstitute/sting/alignment/CheckAlignment.java index 32126f0e3..93b4d5e6f 100644 --- a/public/java/src/org/broadinstitute/sting/alignment/AlignmentValidation.java +++ b/public/java/src/org/broadinstitute/sting/alignment/CheckAlignment.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.util.Iterator; @@ -48,8 +49,8 @@ import java.util.Iterator; * @author mhanna * @version 0.1 */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) -public class AlignmentValidation extends ReadWalker { +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) +public class CheckAlignment extends ReadWalker { /** * The supporting BWT index generated using BWT. */ diff --git a/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java b/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java index e2444f38a..08aa5f8b3 100644 --- a/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java +++ b/public/java/src/org/broadinstitute/sting/commandline/CommandLineProgram.java @@ -62,6 +62,11 @@ public abstract class CommandLineProgram { @Argument(fullName = "help", shortName = "h", doc = "Generate this help message", required = false) public Boolean help = false; + /** This is used to indicate if they've asked for the version information */ + @Argument(fullName = "version", shortName = "version", doc ="Output version information", required = false) + public Boolean version = false; + + /** our logging output patterns */ private static final String patternString = "%-5p %d{HH:mm:ss,SSS} %C{1} - %m %n"; @@ -199,6 +204,9 @@ public abstract class CommandLineProgram { parser.addArgumentSource(clp.getArgumentSourceName(argumentSource), argumentSource); parsedArgs = parser.parse(args); + if (isVersionPresent(parser)) + printVersionAndExit(); + if (isHelpPresent(parser)) printHelpAndExit(clp, parser); @@ -315,6 +323,26 @@ public abstract class CommandLineProgram { System.exit(0); } + /** + * Do a cursory search for the argument "version". + * + * @param parser Parser + * + * @return True if version is present; false otherwise. + */ + private static boolean isVersionPresent(ParsingEngine parser) { + return parser.isArgumentPresent("version"); + } + + /** + * Print help and exit. + */ + private static void printVersionAndExit() { + System.out.println(CommandLineGATK.getVersionNumber().toString()); + System.exit(0); + } + + private static void errorPrintf(String format, Object... s) { String formatted = String.format(format, s); diff --git a/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java b/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java index 63c7ef723..5fc0ccd3e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java +++ b/public/java/src/org/broadinstitute/sting/gatk/CommandLineGATK.java @@ -50,7 +50,7 @@ import java.util.*; * gatk all the parsed out information. Pretty much anything dealing with the underlying system should go here, * the gatk engine should deal with any data related information. */ -@DocumentedGATKFeature(groupName = "GATK Engine") +@DocumentedGATKFeature(groupName = HelpConstants.DOCS_CAT_ENGINE) public class CommandLineGATK extends CommandLineExecutable { @Argument(fullName = "analysis_type", shortName = "T", doc = "Type of analysis to run") private String analysisName = null; diff --git a/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java b/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java index de5a96237..85c94cc92 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/GenomeAnalysisEngine.java @@ -48,6 +48,7 @@ import org.broadinstitute.sting.gatk.io.stubs.Stub; import org.broadinstitute.sting.gatk.iterators.ReadTransformer; import org.broadinstitute.sting.gatk.iterators.ReadTransformersMode; import org.broadinstitute.sting.gatk.phonehome.GATKRunReport; +import org.broadinstitute.sting.gatk.refdata.tracks.IndexDictionaryUtils; import org.broadinstitute.sting.gatk.refdata.tracks.RMDTrackBuilder; import org.broadinstitute.sting.gatk.refdata.utils.RMDTriplet; import org.broadinstitute.sting.gatk.resourcemanagement.ThreadAllocation; @@ -254,13 +255,16 @@ public class GenomeAnalysisEngine { // Prepare the data for traversal. initializeDataSources(); - // initialize sampleDB - initializeSampleDB(); - // initialize and validate the interval list initializeIntervals(); validateSuppliedIntervals(); + // check to make sure that all sequence dictionaries are compatible with the reference's sequence dictionary + validateDataSourcesAgainstReference(readsDataSource, referenceDataSource.getReference(), rodDataSources); + + // initialize sampleDB + initializeSampleDB(); + // our microscheduler, which is in charge of running everything MicroScheduler microScheduler = createMicroscheduler(); threadEfficiencyMonitor = microScheduler.getThreadEfficiencyMonitor(); @@ -271,7 +275,9 @@ public class GenomeAnalysisEngine { // create the output streams initializeOutputStreams(microScheduler.getOutputTracker()); + logger.info("Creating shard strategy for " + readsDataSource.getReaderIDs().size() + " BAM files"); Iterable shardStrategy = getShardStrategy(readsDataSource,microScheduler.getReference(),intervals); + logger.info("Done creating shard strategy"); // execute the microscheduler, storing the results return microScheduler.execute(this.walker, shardStrategy); @@ -552,7 +558,7 @@ public class GenomeAnalysisEngine { if (readsDataSource.getSortOrder() != SAMFileHeader.SortOrder.coordinate) throw new UserException.MissortedBAM(SAMFileHeader.SortOrder.coordinate, "Locus walkers can only traverse coordinate-sorted data. Please resort your input BAM file(s) or set the Sort Order tag in the header appropriately."); if(intervals == null) - return readsDataSource.createShardIteratorOverMappedReads(referenceDataSource.getReference().getSequenceDictionary(),new LocusShardBalancer()); + return readsDataSource.createShardIteratorOverMappedReads(new LocusShardBalancer()); else return readsDataSource.createShardIteratorOverIntervals(intervals,new LocusShardBalancer()); } @@ -560,7 +566,7 @@ public class GenomeAnalysisEngine { if (readsDataSource.getSortOrder() != SAMFileHeader.SortOrder.coordinate) throw new UserException.MissortedBAM(SAMFileHeader.SortOrder.coordinate, "Active region walkers can only traverse coordinate-sorted data. Please resort your input BAM file(s) or set the Sort Order tag in the header appropriately."); if(intervals == null) - return readsDataSource.createShardIteratorOverMappedReads(referenceDataSource.getReference().getSequenceDictionary(),new LocusShardBalancer()); + return readsDataSource.createShardIteratorOverMappedReads(new LocusShardBalancer()); else return readsDataSource.createShardIteratorOverIntervals(((ActiveRegionWalker)walker).extendIntervals(intervals, this.genomeLocParser, this.getReferenceDataSource().getReference()), new LocusShardBalancer()); } @@ -751,9 +757,8 @@ public class GenomeAnalysisEngine { * @param reads Reads data source. * @param reference Reference data source. * @param rods a collection of the reference ordered data tracks - * @param manager manager */ - private void validateSourcesAgainstReference(SAMDataSource reads, ReferenceSequenceFile reference, Collection rods, RMDTrackBuilder manager) { + private void validateDataSourcesAgainstReference(SAMDataSource reads, ReferenceSequenceFile reference, Collection rods) { if ((reads.isEmpty() && (rods == null || rods.isEmpty())) || reference == null ) return; @@ -770,11 +775,12 @@ public class GenomeAnalysisEngine { } // compare the reads to the reference - SequenceDictionaryUtils.validateDictionaries(logger, getArguments().unsafe, "reads", readsDictionary, "reference", referenceDictionary); + SequenceDictionaryUtils.validateDictionaries(logger, getArguments().unsafe, "reads", readsDictionary, + "reference", referenceDictionary, true, intervals); } for (ReferenceOrderedDataSource rod : rods) - manager.validateTrackSequenceDictionary(rod.getName(),rod.getSequenceDictionary(),referenceDictionary); + IndexDictionaryUtils.validateTrackSequenceDictionary(rod.getName(), rod.getSequenceDictionary(), referenceDictionary, getArguments().unsafe); } /** @@ -856,9 +862,6 @@ public class GenomeAnalysisEngine { genomeLocParser, flashbackData())); - // validation: check to make sure everything the walker needs is present, and that all sequence dictionaries match. - validateSourcesAgainstReference(readsDataSource, referenceDataSource.getReference(), dataSources, builder); - return dataSources; } @@ -882,10 +885,10 @@ public class GenomeAnalysisEngine { /** * Returns the unmerged SAM file header for an individual reader. * @param reader The reader. - * @return Header for that reader. + * @return Header for that reader or null if not available. */ public SAMFileHeader getSAMFileHeader(SAMReaderID reader) { - return readsDataSource.getHeader(reader); + return readsDataSource == null ? null : readsDataSource.getHeader(reader); } /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java b/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java index bcf3e7044..a3e19b944 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java +++ b/public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java @@ -176,7 +176,7 @@ public class GATKArgumentCollection { @Argument(fullName = "fix_misencoded_quality_scores", shortName="fixMisencodedQuals", doc="Fix mis-encoded base quality scores", required = false) public boolean FIX_MISENCODED_QUALS = false; - @Argument(fullName = "allow_potentially_misencoded_quality_scores", shortName="allowPotentiallyMisencodedQuals", doc="Do not fail when encountered base qualities that are too high and seemingly indicate a problem with the base quality encoding of the BAM file", required = false) + @Argument(fullName = "allow_potentially_misencoded_quality_scores", shortName="allowPotentiallyMisencodedQuals", doc="Do not fail when encountering base qualities that are too high and that seemingly indicate a problem with the base quality encoding of the BAM file", required = false) public boolean ALLOW_POTENTIALLY_MISENCODED_QUALS = false; // -------------------------------------------------------------------------------------------------------------- @@ -245,6 +245,14 @@ public class GATKArgumentCollection { @Argument(fullName = "globalQScorePrior", shortName = "globalQScorePrior", doc = "The global Qscore Bayesian prior to use in the BQSR. If specified, this value will be used as the prior for all mismatch quality scores instead of the actual reported quality score", required = false) public double globalQScorePrior = -1.0; + /** + * For the sake of your data, please only use this option if you know what you are doing. It is absolutely not recommended practice + * to run base quality score recalibration on reduced BAM files. + */ + @Advanced + @Argument(fullName = "allow_bqsr_on_reduced_bams_despite_repeated_warnings", shortName="allowBqsrOnReducedBams", doc="Do not fail when running base quality score recalibration on a reduced BAM file even though we highly recommend against it", required = false) + public boolean ALLOW_BQSR_ON_REDUCED_BAMS = false; + // -------------------------------------------------------------------------------------------------------------- // // Other utility arguments diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java index 8d7cfbaa7..adb668ff9 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/BAMScheduler.java @@ -28,7 +28,6 @@ package org.broadinstitute.sting.gatk.datasources.reads; import net.sf.picard.util.PeekableIterator; import net.sf.samtools.GATKBAMFileSpan; import net.sf.samtools.GATKChunk; -import net.sf.samtools.SAMSequenceDictionary; import net.sf.samtools.SAMSequenceRecord; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; @@ -53,14 +52,15 @@ public class BAMScheduler implements Iterator { private PeekableIterator locusIterator; private GenomeLoc currentLocus; - public static BAMScheduler createOverMappedReads(final SAMDataSource dataSource, final SAMSequenceDictionary referenceSequenceDictionary, final GenomeLocParser parser) { - BAMScheduler scheduler = new BAMScheduler(dataSource); - GenomeLocSortedSet intervals = new GenomeLocSortedSet(parser); - for(SAMSequenceRecord sequence: referenceSequenceDictionary.getSequences()) { - // Match only on sequence name; trust startup validation to make sure all the sequences match. - if(dataSource.getHeader().getSequenceDictionary().getSequence(sequence.getSequenceName()) != null) - intervals.add(parser.createOverEntireContig(sequence.getSequenceName())); - } + /* + * Creates BAMScheduler using contigs from the given BAM data source. + * + * @param dataSource BAM source + * @return non-null BAM scheduler + */ + public static BAMScheduler createOverMappedReads(final SAMDataSource dataSource) { + final BAMScheduler scheduler = new BAMScheduler(dataSource); + final GenomeLocSortedSet intervals = GenomeLocSortedSet.createSetFromSequenceDictionary(dataSource.getHeader().getSequenceDictionary()); scheduler.populateFilteredIntervalList(intervals); return scheduler; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java index aec41e340..57b409dcd 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/GATKBAMIndex.java @@ -25,17 +25,18 @@ package org.broadinstitute.sting.gatk.datasources.reads; +import net.sf.samtools.seekablestream.SeekableBufferedStream; +import net.sf.samtools.seekablestream.SeekableFileStream; + import net.sf.samtools.*; -import org.broadinstitute.sting.gatk.CommandLineGATK; + import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.exceptions.UserException; -import java.io.File; -import java.io.FileInputStream; -import java.io.IOException; +import java.io.*; import java.nio.ByteBuffer; import java.nio.ByteOrder; -import java.nio.channels.FileChannel; import java.util.ArrayList; import java.util.Arrays; import java.util.List; @@ -70,6 +71,9 @@ public class GATKBAMIndex { private final File mFile; + //TODO: figure out a good value for this buffer size + private final int BUFFERED_STREAM_BUFFER_SIZE = 8192; + /** * Number of sequences stored in this index. */ @@ -80,8 +84,8 @@ public class GATKBAMIndex { */ private final long[] sequenceStartCache; - private FileInputStream fileStream; - private FileChannel fileChannel; + private SeekableFileStream fileStream; + private SeekableBufferedStream bufferedStream; public GATKBAMIndex(final File file) { mFile = file; @@ -264,7 +268,7 @@ public class GATKBAMIndex { */ protected int getMaxAddressibleGenomicLocation() { return BIN_GENOMIC_SPAN; - } + } protected void skipToSequence(final int referenceSequence) { // Find the offset in the file of the last sequence whose position has been determined. Start here @@ -279,7 +283,6 @@ public class GATKBAMIndex { for (int i = sequenceIndex; i < referenceSequence; i++) { sequenceStartCache[i] = position(); - // System.out.println("# Sequence TID: " + i); final int nBins = readInteger(); // System.out.println("# nBins: " + nBins); @@ -292,15 +295,18 @@ public class GATKBAMIndex { final int nLinearBins = readInteger(); // System.out.println("# nLinearBins: " + nLinearBins); skipBytes(8 * nLinearBins); + } sequenceStartCache[referenceSequence] = position(); } + + private void openIndexFile() { try { - fileStream = new FileInputStream(mFile); - fileChannel = fileStream.getChannel(); + fileStream = new SeekableFileStream(mFile); + bufferedStream = new SeekableBufferedStream(fileStream,BUFFERED_STREAM_BUFFER_SIZE); } catch (IOException exc) { throw new ReviewedStingException("Unable to open index file (" + exc.getMessage() +")" + mFile, exc); @@ -309,7 +315,7 @@ public class GATKBAMIndex { private void closeIndexFile() { try { - fileChannel.close(); + bufferedStream.close(); fileStream.close(); } catch (IOException exc) { @@ -352,19 +358,45 @@ public class GATKBAMIndex { } private void read(final ByteBuffer buffer) { + final int bytesRequested = buffer.limit(); + try { - int bytesExpected = buffer.limit(); - int bytesRead = fileChannel.read(buffer); + + //BufferedInputStream cannot read directly into a byte buffer, so we read into an array + //and put the result into the bytebuffer after the if statement. // We have a rigid expectation here to read in exactly the number of bytes we've limited - // our buffer to -- if we read in fewer bytes than this, or encounter EOF (-1), the index + // our buffer to -- if there isn't enough data in the file, the index // must be truncated or otherwise corrupt: - if ( bytesRead < bytesExpected ) { + if(bytesRequested > bufferedStream.length() - bufferedStream.position()){ + throw new UserException.MalformedFile(mFile, String.format("Premature end-of-file while reading BAM index file %s. " + + "It's likely that this file is truncated or corrupt -- " + + "Please try re-indexing the corresponding BAM file.", + mFile)); + } + + int totalBytesRead = 0; + // This while loop must terminate since we demand that we read at least one byte from the file at each iteration + while (totalBytesRead < bytesRequested) { + // bufferedStream.read may return less than the requested amount of byte despite + // not reaching the end of the file, hence the loop. + int bytesRead = bufferedStream.read(byteArray, totalBytesRead, bytesRequested-totalBytesRead); + + // We have a rigid expectation here to read in exactly the number of bytes we've limited + // our buffer to -- if we encounter EOF (-1), the index + // must be truncated or otherwise corrupt: + if (bytesRead <= 0) { throw new UserException.MalformedFile(mFile, String.format("Premature end-of-file while reading BAM index file %s. " + "It's likely that this file is truncated or corrupt -- " + "Please try re-indexing the corresponding BAM file.", mFile)); + } + totalBytesRead += bytesRead; } + if(totalBytesRead != bytesRequested) + throw new RuntimeException("Read amount different from requested amount. This should not happen."); + + buffer.put(byteArray, 0, bytesRequested); } catch(IOException ex) { throw new ReviewedStingException("Index: unable to read bytes from index file " + mFile); @@ -378,10 +410,13 @@ public class GATKBAMIndex { */ private ByteBuffer buffer = null; + //BufferedStream don't read into ByteBuffers, so we need this temporary array + private byte[] byteArray=null; private ByteBuffer getBuffer(final int size) { if(buffer == null || buffer.capacity() < size) { // Allocate a new byte buffer. For now, make it indirect to make sure it winds up on the heap for easier debugging. buffer = ByteBuffer.allocate(size); + byteArray = new byte[size]; buffer.order(ByteOrder.LITTLE_ENDIAN); } buffer.clear(); @@ -391,7 +426,13 @@ public class GATKBAMIndex { private void skipBytes(final int count) { try { - fileChannel.position(fileChannel.position() + count); + + //try to skip forward the requested amount. + long skipped = bufferedStream.skip(count); + + if( skipped != count ) { //if not managed to skip the requested amount + throw new ReviewedStingException("Index: unable to reposition file channel of index file " + mFile); + } } catch(IOException ex) { throw new ReviewedStingException("Index: unable to reposition file channel of index file " + mFile); @@ -400,7 +441,8 @@ public class GATKBAMIndex { private void seek(final long position) { try { - fileChannel.position(position); + //to seek a new position, move the fileChannel, and reposition the bufferedStream + bufferedStream.seek(position); } catch(IOException ex) { throw new ReviewedStingException("Index: unable to reposition of file channel of index file " + mFile); @@ -413,10 +455,10 @@ public class GATKBAMIndex { */ private long position() { try { - return fileChannel.position(); + return bufferedStream.position(); } catch (IOException exc) { throw new ReviewedStingException("Unable to read position from index file " + mFile, exc); } - } + } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/IntervalSharder.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/IntervalSharder.java index f7ca7593f..048ce17f5 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/IntervalSharder.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/IntervalSharder.java @@ -26,7 +26,6 @@ package org.broadinstitute.sting.gatk.datasources.reads; import net.sf.picard.util.PeekableIterator; -import net.sf.samtools.SAMSequenceDictionary; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.GenomeLocSortedSet; @@ -51,8 +50,8 @@ public class IntervalSharder implements Iterator { return new IntervalSharder(BAMScheduler.createOverAllReads(dataSource,parser),parser); } - public static IntervalSharder shardOverMappedReads(final SAMDataSource dataSource, final SAMSequenceDictionary sequenceDictionary, final GenomeLocParser parser) { - return new IntervalSharder(BAMScheduler.createOverMappedReads(dataSource,sequenceDictionary,parser),parser); + public static IntervalSharder shardOverMappedReads(final SAMDataSource dataSource, final GenomeLocParser parser) { + return new IntervalSharder(BAMScheduler.createOverMappedReads(dataSource),parser); } public static IntervalSharder shardOverIntervals(final SAMDataSource dataSource, final GenomeLocSortedSet loci) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java index d52e55d6d..1223dd2af 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSource.java @@ -1060,10 +1060,12 @@ public class SAMDataSource { /** * Creates a BAM schedule over all mapped reads in the BAM file, when a 'mapped' read is defined as any * read that has been assigned - * @return + * + * @param shardBalancer shard balancer object + * @return non-null initialized version of the shard balancer */ - public Iterable createShardIteratorOverMappedReads(final SAMSequenceDictionary sequenceDictionary, final ShardBalancer shardBalancer) { - shardBalancer.initialize(this,IntervalSharder.shardOverMappedReads(this,sequenceDictionary,genomeLocParser),genomeLocParser); + public Iterable createShardIteratorOverMappedReads(final ShardBalancer shardBalancer) { + shardBalancer.initialize(this,IntervalSharder.shardOverMappedReads(this,genomeLocParser),genomeLocParser); return shardBalancer; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/utilities/FindLargeShards.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/utilities/FindLargeShards.java index 14bec213e..66463e576 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/utilities/FindLargeShards.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reads/utilities/FindLargeShards.java @@ -26,12 +26,10 @@ package org.broadinstitute.sting.gatk.datasources.reads.utilities; import net.sf.picard.reference.IndexedFastaSequenceFile; -import net.sf.samtools.SAMSequenceRecord; import org.apache.log4j.Logger; import org.broadinstitute.sting.commandline.CommandLineProgram; import org.broadinstitute.sting.commandline.Input; import org.broadinstitute.sting.commandline.Output; -import org.broadinstitute.sting.gatk.datasources.reads.BAMScheduler; import org.broadinstitute.sting.gatk.datasources.reads.FilePointer; import org.broadinstitute.sting.gatk.datasources.reads.IntervalSharder; import org.broadinstitute.sting.gatk.datasources.reads.SAMDataSource; @@ -98,14 +96,11 @@ public class FindLargeShards extends CommandLineProgram { SAMDataSource dataSource = new SAMDataSource(bamReaders,new ThreadAllocation(),null,genomeLocParser); // intervals - GenomeLocSortedSet intervalSortedSet = null; - if(intervals != null) + final GenomeLocSortedSet intervalSortedSet; + if ( intervals != null ) intervalSortedSet = IntervalUtils.sortAndMergeIntervals(genomeLocParser, IntervalUtils.parseIntervalArguments(genomeLocParser, intervals), IntervalMergingRule.ALL); - else { - intervalSortedSet = new GenomeLocSortedSet(genomeLocParser); - for(SAMSequenceRecord entry: refReader.getSequenceDictionary().getSequences()) - intervalSortedSet.add(genomeLocParser.createGenomeLoc(entry.getSequenceName(),1,entry.getSequenceLength())); - } + else + intervalSortedSet = GenomeLocSortedSet.createSetFromSequenceDictionary(refReader.getSequenceDictionary()); logger.info(String.format("PROGRESS: Calculating mean and variance: Contig\tRegion.Start\tRegion.Stop\tSize")); diff --git a/public/java/src/org/broadinstitute/sting/gatk/datasources/reference/ReferenceDataSource.java b/public/java/src/org/broadinstitute/sting/gatk/datasources/reference/ReferenceDataSource.java index cb70d2b88..79100e89a 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/datasources/reference/ReferenceDataSource.java +++ b/public/java/src/org/broadinstitute/sting/gatk/datasources/reference/ReferenceDataSource.java @@ -67,18 +67,20 @@ public class ReferenceDataSource { throw new UserException("The fasta file you specified (" + fastaFile.getAbsolutePath() + ") does not exist."); final boolean isGzipped = fastaFile.getAbsolutePath().endsWith(".gz"); + if ( isGzipped ) { + throw new UserException.CannotHandleGzippedRef(); + } final File indexFile = new File(fastaFile.getAbsolutePath() + ".fai"); // determine the name for the dict file - final String fastaExt = (fastaFile.getAbsolutePath().endsWith("fa") ? ".fa" : ".fasta" ) + (isGzipped ? ".gz" : ""); + final String fastaExt = fastaFile.getAbsolutePath().endsWith("fa") ? ".fa" : ".fasta"; final File dictFile = new File(fastaFile.getAbsolutePath().replace(fastaExt, ".dict")); /* * if index file does not exist, create it manually */ if (!indexFile.exists()) { - if ( isGzipped ) throw new UserException.CouldNotCreateReferenceFAIorDictForGzippedRef(fastaFile); logger.info(String.format("Index file %s does not exist. Trying to create it now.", indexFile.getAbsolutePath())); FSLockWithShared indexLock = new FSLockWithShared(indexFile,true); @@ -115,7 +117,6 @@ public class ReferenceDataSource { * This has been filed in trac as (PIC-370) Want programmatic interface to CreateSequenceDictionary */ if (!dictFile.exists()) { - if ( isGzipped ) throw new UserException.CouldNotCreateReferenceFAIorDictForGzippedRef(fastaFile); logger.info(String.format("Dict file %s does not exist. Trying to create it now.", dictFile.getAbsolutePath())); diff --git a/public/java/src/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtils.java b/public/java/src/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtils.java index 6bfa56828..6785375ba 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtils.java +++ b/public/java/src/org/broadinstitute/sting/gatk/downsampling/AlleleBiasedDownsamplingUtils.java @@ -27,14 +27,22 @@ package org.broadinstitute.sting.gatk.downsampling; import net.sf.samtools.SAMReadGroupRecord; import org.broadinstitute.sting.utils.*; +import org.broadinstitute.sting.utils.collections.DefaultHashMap; +import org.broadinstitute.sting.utils.exceptions.StingException; +import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.pileup.*; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.BaseUtils; +import org.broadinstitute.sting.utils.text.XReadLines; import org.broadinstitute.variant.variantcontext.Allele; +import java.io.File; +import java.io.IOException; import java.io.PrintStream; import java.util.*; +import org.apache.log4j.Logger; + public class AlleleBiasedDownsamplingUtils { /** @@ -257,4 +265,90 @@ public class AlleleBiasedDownsamplingUtils { log.println(String.format("%s\t%s\t%s\t%s", read.getReadName(), readGroup.getSample(), readGroup.getLibrary(), readGroup.getPlatformUnit())); } } + + + /** + * Create sample-contamination maps from file + * + * @param ContaminationFractionFile Filename containing two columns: SampleID and Contamination + * @param AvailableSampleIDs Set of Samples of interest (no reason to include every sample in file) or null to turn off checking + * @param logger for logging output + * @return sample-contamination Map + */ + + public static DefaultHashMap loadContaminationFile(File ContaminationFractionFile, final Double defaultContaminationFraction, final Set AvailableSampleIDs, Logger logger) throws StingException { + DefaultHashMap sampleContamination = new DefaultHashMap(defaultContaminationFraction); + Set nonSamplesInContaminationFile = new HashSet(sampleContamination.keySet()); + try { + + XReadLines reader = new XReadLines(ContaminationFractionFile, true); + for (String line : reader) { + + if (line.length() == 0) { + continue; + } + + StringTokenizer st = new StringTokenizer(line); + + String fields[] = new String[2]; + try { + fields[0] = st.nextToken(); + fields[1] = st.nextToken(); + } catch(NoSuchElementException e){ + throw new UserException.MalformedFile("Contamination file must have exactly two columns. Offending line:\n" + line); + } + if(st.hasMoreTokens()) { + throw new UserException.MalformedFile("Contamination file must have exactly two columns. Offending line:\n" + line); + } + + if (fields[0].length() == 0 || fields[1].length() == 0) { + throw new UserException.MalformedFile("Contamination file can not have empty strings in either column. Offending line:\n" + line); + } + + if (sampleContamination.containsKey(fields[0])) { + throw new UserException.MalformedFile("Contamination file contains duplicate entries for input name " + fields[0]); + } + + try { + final Double contamination = Double.valueOf(fields[1]); + if (contamination < 0 || contamination > 1){ + throw new UserException.MalformedFile("Contamination file contains unacceptable contamination value (must be 0<=x<=1): " + line); + } + if (AvailableSampleIDs==null || AvailableSampleIDs.contains(fields[0])) {// only add samples if they are in the sampleSet (or if it is null) + sampleContamination.put(fields[0], contamination); + } + else { + nonSamplesInContaminationFile.add(fields[0]); + } + } catch (NumberFormatException e) { + throw new UserException.MalformedFile("Contamination file contains unparsable double in the second field. Offending line: " + line); + } + } + + + //output to the user info lines telling which samples are in the Contamination File + if (sampleContamination.size() > 0) { + logger.info(String.format("The following samples were found in the Contamination file and will be processed at the contamination level therein: %s", sampleContamination.keySet().toString())); + + //output to the user info lines telling which samples are NOT in the Contamination File + if(AvailableSampleIDs!=null){ + Set samplesNotInContaminationFile = new HashSet(AvailableSampleIDs); + samplesNotInContaminationFile.removeAll(sampleContamination.keySet()); + if (samplesNotInContaminationFile.size() > 0) + logger.info(String.format("The following samples were NOT found in the Contamination file and will be processed at the default contamination level: %s", samplesNotInContaminationFile.toString())); + } + } + + //output to the user Samples that do not have lines in the Contamination File + if (nonSamplesInContaminationFile.size() > 0) { + logger.info(String.format("The following entries were found in the Contamination file but were not SAMPLEIDs. They will be ignored: %s", nonSamplesInContaminationFile.toString())); + } + + return sampleContamination; + + } catch (IOException e) { + throw new StingException("I/O Error while reading sample-contamination file " + ContaminationFractionFile.getName() + ": " + e.getMessage()); + } + + } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/examples/CoverageBySample.java b/public/java/src/org/broadinstitute/sting/gatk/examples/CoverageBySample.java deleted file mode 100644 index bbc53f99d..000000000 --- a/public/java/src/org/broadinstitute/sting/gatk/examples/CoverageBySample.java +++ /dev/null @@ -1,107 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.sting.gatk.examples; - -import net.sf.samtools.SAMReadGroupRecord; -import org.broadinstitute.sting.commandline.Output; -import org.broadinstitute.sting.gatk.CommandLineGATK; -import org.broadinstitute.sting.gatk.contexts.AlignmentContext; -import org.broadinstitute.sting.gatk.contexts.ReferenceContext; -import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; -import org.broadinstitute.sting.gatk.walkers.LocusWalker; -import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; -import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; - -import java.io.PrintStream; -import java.util.HashMap; -import java.util.HashSet; -import java.util.List; -import java.util.Map; - -/** - * Computes the coverage per sample for every position (use with -L argument!). - */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) -public class CoverageBySample extends LocusWalker { - @Output - protected PrintStream out; - - private HashSet sampleNames = new HashSet(); - - public boolean requiresReads() { return true; } - - public void initialize() { - - List read_groups = this.getToolkit().getSAMFileHeader().getReadGroups(); - - for ( SAMReadGroupRecord record : read_groups ) { - String sample = record.getSample(); - if ( sample != null ) - sampleNames.add(sample); - } - } - - public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { - - HashMap depthBySample = new HashMap(); - for ( String sample : sampleNames ) - depthBySample.put(sample, 0); - - ReadBackedPileup pileup = context.getPileup(); - for ( PileupElement p : pileup ) { - - SAMReadGroupRecord readGroup = p.getRead().getReadGroup(); - if ( readGroup == null ) - continue; - - String sample = readGroup.getSample(); - if ( sample != null ) { - int oldDepth = depthBySample.get(sample); - depthBySample.put(sample, oldDepth + 1); - } - } - - for ( Map.Entry sample : depthBySample.entrySet() ) { - out.printf(" %s %8d%n", sample.getKey(), sample.getValue()); - } - - return 1; - } - - - public void onTraversalDone(Integer result) { - out.println("Processed " + result + " loci."); - } - - public Integer reduceInit() { - return 0; - } - - public Integer reduce(Integer value, Integer sum) { - return sum + value; - } -} diff --git a/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java b/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java index df25ccdad..7b56852d3 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java +++ b/public/java/src/org/broadinstitute/sting/gatk/examples/GATKPaperGenotyper.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.genotyper.DiploidGenotype; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import java.io.PrintStream; @@ -47,7 +48,7 @@ import java.io.PrintStream; * * @author aaron */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) public class GATKPaperGenotyper extends LocusWalker implements TreeReducible { public static final double HUMAN_SNP_HETEROZYGOSITY = 1e-3; diff --git a/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java index 7b4892977..2ea2633ee 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/executive/HierarchicalMicroScheduler.java @@ -139,6 +139,8 @@ public class HierarchicalMicroScheduler extends MicroScheduler implements Hierar } public Object execute( Walker walker, Iterable shardStrategy ) { + super.startingExecution(); + // Fast fail for walkers not supporting TreeReducible interface. if (!( walker instanceof TreeReducible )) throw new IllegalArgumentException("The GATK can currently run in parallel only with TreeReducible walkers"); diff --git a/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java index 4c0358d40..415049228 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/executive/LinearMicroScheduler.java @@ -80,6 +80,7 @@ public class LinearMicroScheduler extends MicroScheduler { * @param shardStrategy A strategy for sharding the data. */ public Object execute(Walker walker, Iterable shardStrategy) { + super.startingExecution(); walker.initialize(); Accumulator accumulator = Accumulator.create(engine,walker); diff --git a/public/java/src/org/broadinstitute/sting/gatk/executive/MicroScheduler.java b/public/java/src/org/broadinstitute/sting/gatk/executive/MicroScheduler.java index 371cce778..dc9dfd77e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/executive/MicroScheduler.java +++ b/public/java/src/org/broadinstitute/sting/gatk/executive/MicroScheduler.java @@ -300,6 +300,17 @@ public abstract class MicroScheduler implements MicroSchedulerMBean { */ public abstract Object execute(Walker walker, Iterable shardStrategy); + /** + * Tells this MicroScheduler that the execution of one of the subclass of this object as started + * + * Must be called when the implementation of execute actually starts up + * + * Currently only starts the progress meter timer running, but other start up activities could be incorporated + */ + protected void startingExecution() { + progressMeter.start(); + } + /** * Retrieves the object responsible for tracking and managing output. * @return An output tracker, for loading data in and extracting results. Will not be null. diff --git a/public/java/src/org/broadinstitute/sting/gatk/filters/MalformedReadFilter.java b/public/java/src/org/broadinstitute/sting/gatk/filters/MalformedReadFilter.java index 0f2353ce5..366e927dc 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/filters/MalformedReadFilter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/filters/MalformedReadFilter.java @@ -28,6 +28,7 @@ package org.broadinstitute.sting.gatk.filters; import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMRecord; import net.sf.samtools.SAMSequenceRecord; +import net.sf.samtools.SAMTagUtil; import org.broadinstitute.sting.commandline.Argument; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -59,9 +60,14 @@ public class MalformedReadFilter extends ReadFilter { !checkCigarDisagreesWithAlignment(read); } - private static boolean checkHasReadGroup(SAMRecord read) { - if ( read.getReadGroup() == null ) - throw new UserException.ReadMissingReadGroup(read); + private static boolean checkHasReadGroup(final SAMRecord read) { + if ( read.getReadGroup() == null ) { + // there are 2 possibilities: either the RG tag is missing or it is not defined in the header + final String rgID = (String)read.getAttribute(SAMTagUtil.getSingleton().RG); + if ( rgID == null ) + throw new UserException.ReadMissingReadGroup(read); + throw new UserException.ReadHasUndefinedReadGroup(read, rgID); + } return true; } diff --git a/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java b/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java index af46c2a42..2387312b9 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java +++ b/public/java/src/org/broadinstitute/sting/gatk/filters/ReadFilter.java @@ -29,12 +29,13 @@ import net.sf.picard.filter.SamRecordFilter; import net.sf.samtools.SAMRecord; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; /** * A SamRecordFilter that also depends on the header. */ @DocumentedGATKFeature( - groupName = "Read filters", + groupName = HelpConstants.DOCS_CAT_RF, summary = "GATK Engine arguments that filter or transfer incoming SAM/BAM data files" ) public abstract class ReadFilter implements SamRecordFilter { /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/filters/ReassignOneMappingQualityFilter.java b/public/java/src/org/broadinstitute/sting/gatk/filters/ReassignOneMappingQualityFilter.java new file mode 100644 index 000000000..c894dd801 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/gatk/filters/ReassignOneMappingQualityFilter.java @@ -0,0 +1,88 @@ +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + +package org.broadinstitute.sting.gatk.filters; + +import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.commandline.Argument; + +/** + * A read filter (transformer) that changes a given read mapping quality to a different value. + * + *

    + * This 'filter' will change a certain read mapping quality to a different value without affecting reads that + * have other mapping qualities. This is intended primarily for users of RNA-Seq data handling programs such + * as TopHat, which use MAPQ = 255 to designate uniquely aligned reads. According to convention, 255 normally + * designates "unknown" quality, and most GATK tools automatically ignore such reads. By reassigning a different + * mapping quality to those specific reads, users of TopHat and other tools can circumvent this problem without + * affecting the rest of their dataset. + *

    + * + *

    + * This differs from the ReassignMappingQuality filter by its selectivity -- only one mapping quality is targeted. + * ReassignMappingQuality will change ALL mapping qualities to a single one, and is typically used for datasets + * that have no assigned mapping qualities. + *

    + * + * + *

    Input

    + *

    + * BAM file(s) + *

    + * + * + *

    Output

    + *

    + * BAM file(s) with one read mapping quality selectively reassigned as desired + *

    + * + *

    Examples

    + * 
    + *    java
+ *      -jar GenomeAnalysisTK.jar
+ *      -rf ReassignOneMappingQuality
+ *      -RMQF 255
+ *      -RMQT 60
+ *
    + * + * @author vdauwera + * @since 2/19/13 + */ + +public class ReassignOneMappingQualityFilter extends ReadFilter { + + @Argument(fullName = "reassign_mapping_quality_from", shortName = "RMQF", doc = "Original mapping quality", required = false) + public int reassignMappingQualityFrom = 255; + + @Argument(fullName = "reassign_mapping_quality_to", shortName = "RMQT", doc = "Desired mapping quality", required = false) + public int reassignMappingQualityTo = 60; + + public boolean filterOut(SAMRecord rec) { + if (rec.getMappingQuality() == reassignMappingQualityFrom) + rec.setMappingQuality(reassignMappingQualityTo); + return false; + } +} + diff --git a/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java b/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java index 277ffc082..02f2f9f02 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java +++ b/public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java @@ -81,7 +81,7 @@ public class GATKRunReport { /** * number of milliseconds before the S3 put operation is timed-out: */ - private static final long S3_PUT_TIME_OUT = 10 * 1000; + private static final long S3_PUT_TIME_OUT = 30 * 1000; /** * The root file system directory where we keep common report data diff --git a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java index 17f9ef561..e0b5dd4cb 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java +++ b/public/java/src/org/broadinstitute/sting/gatk/refdata/tracks/IndexDictionaryUtils.java @@ -101,7 +101,7 @@ public class IndexDictionaryUtils { Set trackSequences = new TreeSet(); for (SAMSequenceRecord dictionaryEntry : trackDict.getSequences()) trackSequences.add(dictionaryEntry.getSequenceName()); - SequenceDictionaryUtils.validateDictionaries(logger, validationExclusionType, trackName, trackDict, "reference", referenceDict); + SequenceDictionaryUtils.validateDictionaries(logger, validationExclusionType, trackName, trackDict, "reference", referenceDict, false, null); } } } diff --git a/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java b/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java index 5d2aa6be3..64c6d5094 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java +++ b/public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java @@ -109,7 +109,8 @@ public class TraverseActiveRegions extends TraversalEngine * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Requires(value={}) @Allows(value={DataSource.READS, DataSource.REFERENCE}) @Reference(window=@Window(start=-50,stop=50)) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java index c5a6fd624..c5703afc8 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java @@ -25,6 +25,8 @@ package org.broadinstitute.sting.gatk.walkers.annotator; +import com.google.java.contract.Ensures; +import com.google.java.contract.Requires; import org.broadinstitute.sting.commandline.RodBinding; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; @@ -235,6 +237,16 @@ public class VariantAnnotatorEngine { return builder.genotypes(annotateGenotypes(null, null, null, vc, perReadAlleleLikelihoodMap)).make(); } + /** + * Annotate the ID field and other DBs for the given Variant Context + * + * @param tracker ref meta data tracker (cannot be null) + * @param loc location of the vc + * @param vc variant context to annotate + * @return non-null annotated version of vc + */ + @Requires({"tracker != null && loc != null && vc != null"}) + @Ensures("result != null") public VariantContext annotateDBs(final RefMetaDataTracker tracker, final GenomeLoc loc, VariantContext vc) { final Map newInfoAnnotations = new HashMap(0); vc = annotateDBs(tracker, loc, vc, newInfoAnnotations); @@ -247,6 +259,17 @@ public class VariantAnnotatorEngine { return vc; } + /** + * Annotate the ID field and other DBs for the given Variant Context + * + * @param tracker ref meta data tracker (cannot be null) + * @param loc location of the vc + * @param vc variant context to annotate + * @param infoAnnotations info annotation map to populate + * @return non-null annotated version of vc + */ + @Requires({"tracker != null && loc != null && vc != null && infoAnnotations != null"}) + @Ensures("result != null") private VariantContext annotateDBs(final RefMetaDataTracker tracker, final GenomeLoc loc, VariantContext vc, final Map infoAnnotations) { for ( Map.Entry, String> dbSet : dbAnnotations.entrySet() ) { if ( dbSet.getValue().equals(VCFConstants.DBSNP_KEY) ) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java index 1415c1d7c..f640c99c8 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/VariantAnnotatorAnnotation.java @@ -26,13 +26,14 @@ package org.broadinstitute.sting.gatk.walkers.annotator.interfaces; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; import java.util.List; import java.util.Set; -@DocumentedGATKFeature(enable = true, groupName = "VariantAnnotator annotations", summary = "VariantAnnotator annotations") +@DocumentedGATKFeature(enable = true, groupName = HelpConstants.DOCS_CAT_ANNOT, summary = "Annotations available to VariantAnnotator and the variant callers (some restrictions apply)") public abstract class VariantAnnotatorAnnotation { // return the INFO keys public abstract List getKeyNames(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java index 09b2cba80..2e85fe8f9 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/BeagleOutputToVCF.java @@ -35,6 +35,7 @@ import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.beagle.BeagleFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.variant.vcf.*; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; @@ -74,7 +75,7 @@ import static java.lang.Math.log10;

    Note that Beagle produces some of these files compressed as .gz, so gunzip must be run on them before walker is run in order to decompress them

    */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) public class BeagleOutputToVCF extends RodWalker { @ArgumentCollection diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java index 15527d34a..937c3abc0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/ProduceBeagleInput.java @@ -38,6 +38,7 @@ import org.broadinstitute.sting.gatk.walkers.variantrecalibration.VQSRCalibratio import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.VCFFilterHeaderLine; @@ -78,7 +79,7 @@ import java.util.*; * */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) public class ProduceBeagleInput extends RodWalker { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java index 3ef688d02..ab0ce79fd 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/beagle/VariantsToBeagleUnphased.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.variant.vcf.VCFHeaderLine; @@ -56,7 +57,7 @@ import java.util.Set; * in input variant file. Will additionally hold back a fraction of the sites for evaluation, marking the * genotypes at that sites as missing, and writing the truth of these sites to a second VCF file */ -@DocumentedGATKFeature( groupName = "Variant Discovery Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARDISC, extraDocs = {CommandLineGATK.class} ) public class VariantsToBeagleUnphased extends RodWalker { @Input(fullName="variants", shortName = "V", doc="Input VCF file", required=true) public RodBinding variants; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java index 79ff97333..0681ebf1e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CallableLoci.java @@ -38,6 +38,7 @@ import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.utils.*; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.BaseUtils; @@ -123,7 +124,7 @@ import java.io.PrintStream; * @author Mark DePristo * @since May 7, 2010 */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @By(DataSource.REFERENCE) public class CallableLoci extends LocusWalker { @Output diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java index 6f1c9d020..3844db38c 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/CompareCallableLoci.java @@ -38,6 +38,7 @@ import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; import java.util.Arrays; @@ -46,7 +47,7 @@ import java.util.List; /** * Test routine for new VariantContext object */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class CompareCallableLoci extends RodWalker, long[][]> { @Output protected PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverage.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverage.java index d9e5e3e98..3bd114aa1 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverage.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverage.java @@ -50,6 +50,7 @@ import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.File; import java.io.PrintStream; @@ -59,7 +60,7 @@ import java.util.*; * Toolbox for assessing sequence coverage by a wide array of metrics, partitioned by sample, read group, or library * *

    - * DepthOfCoverage processes a set of bam files to determine coverage at different levels of partitioning and + * Coverage processes a set of bam files to determine coverage at different levels of partitioning and * aggregation. Coverage can be analyzed per locus, per interval, per gene, or in total; can be partitioned by * sample, by read group, by technology, by center, or by library; and can be summarized by mean, median, quartiles, * and/or percentage of bases covered to or beyond a threshold. @@ -101,7 +102,7 @@ import java.util.*; * 

      * java -Xmx2g -jar GenomeAnalysisTK.jar \
  *   -R ref.fasta \
- *   -T DepthOfCoverage \
+ *   -T Coverage \
  *   -o file_name_base \
  *   -I input_bams.list
  *   [-geneList refSeq.sorted.txt] \
@@ -116,7 +117,7 @@ import java.util.*;
 // todo -- alter logarithmic scaling to spread out bins more
 // todo -- allow for user to set linear binning (default is logarithmic)
 // todo -- formatting --> do something special for end bins in getQuantile(int[] foo), this gets mushed into the end+-1 bins for now
-@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} )
+@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} )
 @By(DataSource.REFERENCE)
 @PartitionBy(PartitionType.NONE)
 @Downsample(by= DownsampleType.NONE, toCoverage=Integer.MAX_VALUE)
diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java
index 84520b24b..9a6ef61d8 100644
--- a/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java
+++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/coverage/GCContentByInterval.java
@@ -35,6 +35,7 @@ import org.broadinstitute.sting.utils.BaseUtils;
 import org.broadinstitute.sting.utils.GenomeLoc;
 import org.broadinstitute.sting.utils.collections.Pair;
 import org.broadinstitute.sting.utils.help.DocumentedGATKFeature;
+import org.broadinstitute.sting.utils.help.HelpConstants;
 
 import java.io.PrintStream;
 import java.util.List;
@@ -63,7 +64,7 @@ import java.util.List;
  *
    * */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Allows(value = {DataSource.REFERENCE}) @Requires(value = {DataSource.REFERENCE}) @By(DataSource.REFERENCE) diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java index 13dc238cd..76f5478a4 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ErrorRatePerCycle.java @@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -93,7 +94,7 @@ import java.io.PrintStream; * * @author Kiran Garimella, Mark DePristo */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class ErrorRatePerCycle extends LocusWalker { @Output PrintStream out; @Argument(fullName="min_base_quality_score", shortName="mbq", doc="Minimum base quality required to consider a base for calling", required=false) @@ -199,7 +200,7 @@ public class ErrorRatePerCycle extends LocusWalker { final int mismatches = (Integer)table.get(key, "mismatches"); final int count = (Integer)table.get(key, "counts"); final double errorRate = (mismatches + 1) / (1.0*(count + 1)); - final int qual = QualityUtils.probToQual(1-errorRate, 0.0); + final int qual = QualityUtils.errorProbToQual(errorRate); table.set(key, "qual", qual); table.set(key, "errorrate", errorRate); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java index 368e0bb5c..de7ac3e41 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadGroupProperties.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.report.GATKReportTable; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.utils.Median; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.io.PrintStream; @@ -97,7 +98,7 @@ import java.util.Map; * * @author Mark DePristo */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class ReadGroupProperties extends ReadWalker { @Output public PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java index 4965521ce..ccad7f0b2 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diagnostics/ReadLengthDistribution.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.report.GATKReport; import org.broadinstitute.sting.gatk.report.GATKReportTable; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.io.PrintStream; @@ -71,7 +72,7 @@ import java.util.List; * @author Kiran Garimela */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class ReadLengthDistribution extends ReadWalker { @Output public PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java index b7a1fc1bf..d1903c2bb 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/diffengine/DiffObjects.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.File; import java.io.PrintStream; @@ -134,7 +135,7 @@ import java.util.List; * @author Mark DePristo * @since 7/4/11 */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class DiffObjects extends RodWalker { /** * Writes out a file of the DiffEngine format: diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceMaker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceMaker.java index 8a5b3530e..e881315b9 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceMaker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaAlternateReferenceMaker.java @@ -35,6 +35,7 @@ import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.variantcontext.VariantContext; import java.util.Collections; @@ -81,7 +82,7 @@ import java.util.List; * * */ -@DocumentedGATKFeature( groupName = "Companion Utilities", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_REFUTILS, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-1,stop=50)) @Requires(value={DataSource.REFERENCE}) public class FastaAlternateReferenceMaker extends FastaReferenceMaker { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceMaker.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceMaker.java index ed3ebe173..f2f5fb5fe 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceMaker.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaReferenceMaker.java @@ -35,6 +35,7 @@ import org.broadinstitute.sting.gatk.walkers.RefWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; @@ -67,7 +68,7 @@ import java.io.PrintStream; * * */ -@DocumentedGATKFeature( groupName = "Companion Utilities", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_REFUTILS, extraDocs = {CommandLineGATK.class} ) public class FastaReferenceMaker extends RefWalker, GenomeLoc> { @Output PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java index ee2530e8b..9fbaca14e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/fasta/FastaStats.java @@ -33,13 +33,14 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RefWalker; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; /** * Calculates basic statistics about the reference sequence itself */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class FastaStats extends RefWalker { @Output PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltration.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltration.java index 091d5e428..61a847f4c 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltration.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/filters/VariantFiltration.java @@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.variant.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; @@ -78,7 +79,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-50,stop=50)) public class VariantFiltration extends RodWalker { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileup.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CheckPileup.java similarity index 91% rename from public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileup.java rename to public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CheckPileup.java index a23ff27ff..533c7be73 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileup.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CheckPileup.java @@ -42,6 +42,7 @@ import org.broadinstitute.sting.utils.codecs.sampileup.SAMPileupFeature; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import java.io.PrintStream; @@ -52,9 +53,9 @@ import java.util.Arrays; * each overlapping read, and quality score) to the reference pileup data generated by samtools. Samtools' pileup data * should be specified using the command-line argument '-pileup:SAMPileup '. */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires(value={DataSource.READS,DataSource.REFERENCE}) -public class ValidatingPileup extends LocusWalker implements TreeReducible { +public class CheckPileup extends LocusWalker implements TreeReducible { @Input(fullName = "pileup", doc="The SAMPileup containing the expected output", required = true) RodBinding pileup; @@ -120,15 +121,15 @@ public class ValidatingPileup extends LocusWalker impl } // Given result of map function - public ValidationStats reduceInit() { return new ValidationStats(); } - public ValidationStats reduce(Integer value, ValidationStats sum) { + public CheckPileupStats reduceInit() { return new CheckPileupStats(); } + public CheckPileupStats reduce(Integer value, CheckPileupStats sum) { sum.nLoci++; sum.nBases += value; return sum; } - public ValidationStats treeReduce( ValidationStats lhs, ValidationStats rhs ) { - ValidationStats combined = new ValidationStats(); + public CheckPileupStats treeReduce( CheckPileupStats lhs, CheckPileupStats rhs ) { + CheckPileupStats combined = new CheckPileupStats(); combined.nLoci = lhs.nLoci + rhs.nLoci; combined.nBases = lhs.nBases + rhs.nBases; return combined; @@ -155,11 +156,11 @@ public class ValidatingPileup extends LocusWalker impl } } -class ValidationStats { +class CheckPileupStats { public long nLoci = 0; public long nBases = 0; - public ValidationStats() { + public CheckPileupStats() { } public String toString() { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountBases.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountBases.java index 148e699ae..503cdb6d6 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountBases.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountBases.java @@ -32,6 +32,7 @@ import org.broadinstitute.sting.gatk.walkers.DataSource; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; /** @@ -52,13 +53,12 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * java -Xmx2g -jar GenomeAnalysisTK.jar \ * -R ref.fasta \ * -T CountBases \ - * -o output.txt \ * -I input.bam \ * [-L input.intervals] * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS, DataSource.REFERENCE}) public class CountBases extends ReadWalker { public Integer map(ReferenceContext ref, GATKSAMRecord read, RefMetaDataTracker tracker) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountIntervals.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountIntervals.java index 0423c6f0a..3b8eba398 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountIntervals.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountIntervals.java @@ -38,6 +38,7 @@ import org.broadinstitute.sting.gatk.walkers.RefWalker; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; import java.util.Collections; @@ -48,7 +49,7 @@ import java.util.List; * very useful since overlapping intervals get merged, so you can count the number of intervals the GATK merges down to. * This was its very first use. */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class CountIntervals extends RefWalker { @Output PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java index 093241533..f2bd791c1 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountLoci.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.walkers.LocusWalker; import org.broadinstitute.sting.gatk.walkers.NanoSchedulable; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; @@ -65,7 +66,7 @@ import java.io.PrintStream; * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class CountLoci extends LocusWalker implements TreeReducible, NanoSchedulable { @Output(doc="Write count to this file instead of STDOUT") PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java index 1545bff83..6fb4b84d6 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountMales.java @@ -34,12 +34,13 @@ import org.broadinstitute.sting.gatk.walkers.DataSource; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; /** * Walks over the input data set, calculating the number of reads seen from male samples for diagnostic purposes. */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS, DataSource.REFERENCE}) public class CountMales extends ReadWalker { public Integer map(ReferenceContext ref, GATKSAMRecord read, RefMetaDataTracker tracker) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java index a0f943f7e..c01a1df89 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODs.java @@ -45,6 +45,7 @@ import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.collections.ExpandingArrayList; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; import java.util.*; @@ -73,7 +74,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class CountRODs extends RodWalker, Long>> implements TreeReducible, Long>>, NanoSchedulable { @Output public PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java index 77490be93..303f1704f 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountRODsByRef.java @@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.RefWalker; import org.broadinstitute.sting.utils.collections.ExpandingArrayList; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.util.Collections; import java.util.List; @@ -65,7 +66,7 @@ import java.util.List; * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class CountRODsByRef extends RefWalker, Long>> { /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java index a614b131f..8b0646092 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReadEvents.java @@ -35,6 +35,7 @@ import org.broadinstitute.sting.gatk.walkers.DataSource; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -66,7 +67,7 @@ import java.util.Map; * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS, DataSource.REFERENCE}) public class CountReadEvents extends ReadWalker> , Map>> { @Output (doc = "GATKReport table output") diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java index 4c2a5b9dd..1a3984014 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountReads.java @@ -33,6 +33,7 @@ import org.broadinstitute.sting.gatk.walkers.NanoSchedulable; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; /** @@ -63,7 +64,7 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS, DataSource.REFERENCE}) public class CountReads extends ReadWalker implements NanoSchedulable { public Integer map(ReferenceContext ref, GATKSAMRecord read, RefMetaDataTracker tracker) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java index cabc2f467..40b78588f 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/CountTerminusEvent.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.util.List; @@ -63,7 +64,7 @@ import java.util.List; * [-L input.intervals] * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS, DataSource.REFERENCE}) public class CountTerminusEvent extends ReadWalker, Pair> { public Pair map(ReferenceContext ref, GATKSAMRecord read, RefMetaDataTracker tracker) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java index f4156f395..7ec93e582 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ErrorThrowing.java @@ -38,12 +38,13 @@ import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; /** * a walker that simply throws errors. Allows us to test that the engine is behaving as expected with error handling */ @Hidden -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_TEST, extraDocs = {CommandLineGATK.class} ) public class ErrorThrowing extends RefWalker implements TreeReducible, NanoSchedulable { @Input(fullName="exception", shortName = "E", doc="Java class of exception to throw", required=true) public String exceptionToThrow; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/FlagStat.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/FlagStat.java index d8a307ead..d0a3f3508 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/FlagStat.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/FlagStat.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.walkers.NanoSchedulable; import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.io.PrintStream; @@ -72,7 +73,7 @@ import java.text.NumberFormat; * reads with QC failure flag set, number of duplicates, percentage mapped, etc. * @author aaron */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS}) public class FlagStat extends ReadWalker implements NanoSchedulable { @Output diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/Pileup.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/Pileup.java index c931ab8c2..0790f2ced 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/Pileup.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/Pileup.java @@ -39,6 +39,7 @@ import org.broadinstitute.sting.gatk.walkers.NanoSchedulable; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; @@ -54,7 +55,7 @@ import java.util.List; * Associated command: * samtools pileup [-f in.ref.fasta] [-t in.ref_list] [-l in.site_list] [-iscg] [-T theta] [-N nHap] [-r pairDiffRate] */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class Pileup extends LocusWalker implements TreeReducible, NanoSchedulable { private static final String verboseDelimiter = "@"; // it's ugly to use "@" but it's literally the only usable character not allowed in read names diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/PrintRODs.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/PrintRODs.java index dc6dde849..aada50daa 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/PrintRODs.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/PrintRODs.java @@ -35,6 +35,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; @@ -42,7 +43,7 @@ import java.io.PrintStream; * Prints out all of the RODs in the input data set. Data is rendered using the toString() method * of the given ROD. */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class PrintRODs extends RodWalker { @Input(fullName="input", shortName = "input", doc="The input ROD which should be printed out.", required=true) public RodBinding input; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java index 84a28b05a..395945f03 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/QCRef.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.walkers.RefWalker; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import java.io.PrintStream; @@ -61,7 +62,7 @@ import java.io.PrintStream; * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) public class QCRef extends RefWalker { @Output public PrintStream out; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java index f45bf638c..cc8b3401e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/qc/ReadClippingStats.java @@ -40,6 +40,7 @@ import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -56,7 +57,7 @@ import java.util.Arrays; * Walks over the input reads, printing out statistics about the read length, number of clipping events, and length * of the clipping to the output stream. */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_QC, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS}) public class ReadClippingStats extends ReadWalker { @Output diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/ClipReads.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/ClipReads.java index 91059edfd..f7b125828 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/ClipReads.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/ClipReads.java @@ -47,6 +47,7 @@ import org.broadinstitute.sting.utils.clipping.ClippingRepresentation; import org.broadinstitute.sting.utils.clipping.ReadClipper; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.io.File; @@ -153,7 +154,7 @@ import java.util.regex.Pattern; * @author Mark DePristo * @since 2010 */ -@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) @Requires({DataSource.READS}) public class ClipReads extends ReadWalker { /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/PrintReads.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/PrintReads.java index 1f913edc9..8a1178574 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/PrintReads.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/PrintReads.java @@ -28,17 +28,22 @@ package org.broadinstitute.sting.gatk.walkers.readutils; import net.sf.samtools.SAMFileWriter; import net.sf.samtools.SAMReadGroupRecord; import org.broadinstitute.sting.commandline.Argument; +import org.broadinstitute.sting.commandline.Hidden; import org.broadinstitute.sting.commandline.Output; import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; import org.broadinstitute.sting.gatk.iterators.ReadTransformer; import org.broadinstitute.sting.gatk.iterators.ReadTransformersMode; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.baq.BAQ; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import java.io.File; @@ -90,14 +95,14 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) @ReadTransformersMode(ApplicationTime = ReadTransformer.ApplicationTime.HANDLED_IN_WALKER) @BAQMode(QualityMode = BAQ.QualityMode.ADD_TAG, ApplicationTime = ReadTransformer.ApplicationTime.HANDLED_IN_WALKER) @Requires({DataSource.READS, DataSource.REFERENCE}) public class PrintReads extends ReadWalker implements NanoSchedulable { @Output(doc="Write output to this BAM filename instead of STDOUT", required = true) - SAMFileWriter out; + StingSAMFileWriter out; @Argument(fullName = "readGroup", shortName = "readGroup", doc="Exclude all reads with this read group from the output", required = false) String readGroup = null; @@ -137,18 +142,27 @@ public class PrintReads extends ReadWalker impleme */ @Argument(fullName="simplify", shortName="s", doc="Simplify all reads.", required=false) public boolean simplifyReads = false; - + + @Hidden + @Argument(fullName = "no_pg_tag", shortName = "npt", doc ="", required = false) + private boolean NO_PG_TAG = false; List readTransformers = Collections.emptyList(); private TreeSet samplesToChoose = new TreeSet(); private boolean SAMPLES_SPECIFIED = false; + + public static final String PROGRAM_RECORD_NAME = "GATK PrintReads"; // The name that will go in the @PG tag Random random; + /** * The initialize function. */ public void initialize() { + final boolean keep_records = true; + final GenomeAnalysisEngine toolkit = getToolkit(); + if ( platform != null ) platform = platform.toUpperCase(); @@ -167,9 +181,14 @@ public class PrintReads extends ReadWalker impleme if(!samplesToChoose.isEmpty()) { SAMPLES_SPECIFIED = true; } - + random = GenomeAnalysisEngine.getRandomGenerator(); + final boolean preSorted = true; + if (getToolkit() != null && getToolkit().getArguments().BQSR_RECAL_FILE != null && !NO_PG_TAG ) { + Utils.setupWriter(out, toolkit, toolkit.getSAMFileHeader(), !preSorted, keep_records, this, PROGRAM_RECORD_NAME); + } + } /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/SplitSamFile.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/SplitSamFile.java index 73b2bddfc..c64924f09 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/SplitSamFile.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/readutils/SplitSamFile.java @@ -39,6 +39,7 @@ import org.broadinstitute.sting.gatk.walkers.ReadWalker; import org.broadinstitute.sting.gatk.walkers.Requires; import org.broadinstitute.sting.gatk.walkers.WalkerName; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -51,7 +52,7 @@ import java.util.Map; * Divides the input data set into separate BAM files, one for each sample in the input data set. The split * files are named concatenating the sample name to the end of the provided outputRoot command-line argument. */ -@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_DATA, extraDocs = {CommandLineGATK.class} ) @WalkerName("SplitSamFile") @Requires({DataSource.READS}) public class SplitSamFile extends ReadWalker> { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmplicons.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmplicons.java index 78c55d1c4..45c5fe090 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmplicons.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/validation/ValidationAmplicons.java @@ -45,6 +45,7 @@ import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.variantcontext.VariantContext; import java.io.File; @@ -116,7 +117,7 @@ import java.util.List; * @author chartl * @since July 2011 */ -@DocumentedGATKFeature( groupName = "Validation Utilities", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VALIDATION, extraDocs = {CommandLineGATK.class} ) @Requires(value={DataSource.REFERENCE}) public class ValidationAmplicons extends RodWalker { /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java index e24c725a6..a3e480bd0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/varianteval/VariantEval.java @@ -48,6 +48,7 @@ import org.broadinstitute.sting.gatk.walkers.varianteval.util.SortableJexlVCMatc import org.broadinstitute.sting.gatk.walkers.varianteval.util.VariantEvalUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.VCFHeader; @@ -114,7 +115,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-50, stop=50)) @PartitionBy(PartitionType.NONE) public class VariantEval extends RodWalker implements TreeReducible { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariants.java index 0d87bb921..e5fe46a07 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/CombineVariants.java @@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.gatk.walkers.annotator.ChromosomeCountConstants; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; @@ -113,7 +114,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-50,stop=50)) public class CombineVariants extends RodWalker implements TreeReducible { /** diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java index c2785e920..f285fb797 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/FilterLiftedVariants.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.variant.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; @@ -46,7 +47,7 @@ import java.util.*; /** * Filters a lifted-over VCF file for ref bases that have been changed. */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=0,stop=100)) public class FilterLiftedVariants extends RodWalker { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java index 17f75229a..65ec7a4f0 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LeftAlignVariants.java @@ -39,6 +39,7 @@ import org.broadinstitute.sting.gatk.walkers.Reference; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.variant.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; @@ -79,7 +80,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-200,stop=200)) public class LeftAlignVariants extends RodWalker { @@ -163,7 +164,7 @@ public class LeftAlignVariants extends RodWalker { Cigar originalCigar = new Cigar(elements); // left align the CIGAR - Cigar newCigar = AlignmentUtils.leftAlignIndel(originalCigar, refSeq, originalIndel, 0, 0); + Cigar newCigar = AlignmentUtils.leftAlignIndel(originalCigar, refSeq, originalIndel, 0, 0, true); // update if necessary and write if ( !newCigar.equals(originalCigar) && newCigar.numCigarElements() > 1 ) { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java index b78038953..0a7ad5b7b 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/LiftoverVariants.java @@ -39,6 +39,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; @@ -55,7 +56,7 @@ import java.util.*; /** * Lifts a VCF file over from one build to another. Note that the resulting VCF could be mis-sorted. */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) public class LiftoverVariants extends RodWalker { @ArgumentCollection diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java index 896f36e6c..6948c4f3c 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/RandomlySplitVariants.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.variant.vcf.VCFHeaderLine; @@ -51,7 +52,7 @@ import java.util.*; /** * Takes a VCF file, randomly splits variants into two different sets, and outputs 2 new VCFs with the results. */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) public class RandomlySplitVariants extends RodWalker { @ArgumentCollection diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java index e4d182d13..17aaa7513 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectHeaders.java @@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.TreeReducible; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.interval.IntervalMergingRule; import org.broadinstitute.sting.utils.interval.IntervalSetRule; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; @@ -104,7 +105,7 @@ import java.util.*; * */ @SuppressWarnings("unused") -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) public class SelectHeaders extends RodWalker implements TreeReducible { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java index 4d30408d8..9c209ae2c 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java @@ -38,6 +38,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.ChromosomeCountConstants; import org.broadinstitute.sting.utils.MendelianViolation; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; @@ -178,7 +179,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) public class SelectVariants extends RodWalker implements TreeReducible { @ArgumentCollection protected StandardVariantContextInputArgumentCollection variantCollection = new StandardVariantContextInputArgumentCollection(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java index 4b9f2c6c1..a242f9310 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/ValidateVariants.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.variant.vcf.VCFConstants; import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; @@ -74,7 +75,7 @@ import java.util.Set; * * */ -@DocumentedGATKFeature( groupName = "Validation Utilities", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VALIDATION, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=0,stop=100)) public class ValidateVariants extends RodWalker { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java index 5bf5b96e3..02089eb6c 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantValidationAssessor.java @@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; @@ -83,7 +84,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Validation Utilities", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VALIDATION, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=0,stop=40)) public class VariantValidationAssessor extends RodWalker { diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java index 3bd95d9ec..8d16e6ca2 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java @@ -37,6 +37,8 @@ import org.broadinstitute.sting.gatk.walkers.Reference; import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; +import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.variant.vcf.VCFHeader; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; @@ -51,7 +53,7 @@ import java.util.*; /** * Converts a VCF file to a binary plink Ped file (.bed/.bim/.fam) */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=0,stop=100)) public class VariantsToBinaryPed extends RodWalker { @ArgumentCollection @@ -407,7 +409,7 @@ public class VariantsToBinaryPed extends RodWalker { return genotype.getGQ() >= minGenotypeQuality; } else if ( genotype.hasLikelihoods() ) { double log10gq = GenotypeLikelihoods.getGQLog10FromLikelihoods(genotype.getType().ordinal()-1,genotype.getLikelihoods().getAsVector()); - return MathUtils.log10ProbabilityToPhredScale(log10gq) >= minGenotypeQuality; + return QualityUtils.phredScaleLog10ErrorRate(log10gq) >= minGenotypeQuality; } return minGenotypeQuality <= 0; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java index f6c02592d..b12f51a1e 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToTable.java @@ -28,6 +28,7 @@ package org.broadinstitute.sting.gatk.walkers.variantutils; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.VCFConstants; @@ -101,7 +102,7 @@ import java.util.*; * @author Mark DePristo * @since 2010 */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) public class VariantsToTable extends RodWalker { /** * Variants from this VCF file are used by this tool as input. diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java index a51014114..ffe61f76d 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToVCF.java @@ -43,6 +43,7 @@ import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.SampleUtils; import org.broadinstitute.sting.utils.codecs.hapmap.RawHapMapFeature; +import org.broadinstitute.sting.utils.help.HelpConstants; import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.sting.utils.variant.GATKVariantContextUtils; import org.broadinstitute.variant.vcf.*; @@ -82,7 +83,7 @@ import java.util.*; * * */ -@DocumentedGATKFeature( groupName = "Variant Evaluation and Manipulation Tools", extraDocs = {CommandLineGATK.class} ) +@DocumentedGATKFeature( groupName = HelpConstants.DOCS_CAT_VARMANIP, extraDocs = {CommandLineGATK.class} ) @Reference(window=@Window(start=-40,stop=40)) public class VariantsToVCF extends RodWalker { diff --git a/public/java/src/org/broadinstitute/sting/utils/ContigComparator.java b/public/java/src/org/broadinstitute/sting/utils/ContigComparator.java index 2c2d8ab67..fd6d93b44 100644 --- a/public/java/src/org/broadinstitute/sting/utils/ContigComparator.java +++ b/public/java/src/org/broadinstitute/sting/utils/ContigComparator.java @@ -25,6 +25,8 @@ package org.broadinstitute.sting.utils; +import net.sf.samtools.SAMSequenceDictionary; + import java.util.Comparator; import java.util.Set; import java.util.TreeSet; @@ -51,46 +53,28 @@ import java.util.TreeSet; * Just use this comparator in any SortedSet class constructor and your data will be sorted like in the BAM file. */ public class ContigComparator implements Comparator { - private Set specialChrs; + final SAMSequenceDictionary dict; - public ContigComparator() { - specialChrs = new TreeSet(); - specialChrs.add("X"); - specialChrs.add("Y"); + public ContigComparator(final SAMSequenceDictionary dict) { + if ( dict == null ) throw new IllegalArgumentException("dict cannot be null"); + this.dict = dict; } - public int compare(String chr1, String chr2) { - if (chr1.equals(chr2)) - return 0; - - Integer x = convertStringWithoutException(chr1); - Integer y = convertStringWithoutException(chr2); - // both contigs are numbered - if (x != null && y != null) - return (x < y) ? -1:1; - - // both contigs are named - if (x == null && y == null) { - // both contigs are special contigs or neither contig is a special contigs - if (specialChrs.contains(chr1) && specialChrs.contains(chr2) || (!specialChrs.contains(chr1) && !specialChrs.contains(chr2))) - return chr1.compareTo(chr2); - // one contig is a special and the other is not special - if (specialChrs.contains(chr1)) - return -1; - return 1; - } - - // one contig is named the other is numbered - if (x != null) - return -1; - return 1; + @Override + public int compare(final String chr1, final String chr2) { + final int index1 = getIndex(chr1); + final int index2 = getIndex(chr2); + return Integer.valueOf(index1).compareTo(index2); } - private Integer convertStringWithoutException(String contig) { - Integer x = null; - try { - x = Integer.decode(contig); - } catch (NumberFormatException n){} - return x; + /** + * Convert contig to its index in the dict, or throw an exception if it's not found or is null + * @param chr the contig + */ + private int getIndex(final String chr) { + if ( chr == null ) throw new IllegalArgumentException("chr is null"); + final int index = dict.getSequenceIndex(chr); + if ( index == -1 ) throw new IllegalArgumentException("Unknown contig " + chr); + return index; } } diff --git a/public/java/src/org/broadinstitute/sting/utils/GenomeLoc.java b/public/java/src/org/broadinstitute/sting/utils/GenomeLoc.java index 0a271b64c..2a8a271e7 100644 --- a/public/java/src/org/broadinstitute/sting/utils/GenomeLoc.java +++ b/public/java/src/org/broadinstitute/sting/utils/GenomeLoc.java @@ -27,6 +27,7 @@ package org.broadinstitute.sting.utils; import com.google.java.contract.Ensures; import com.google.java.contract.Requires; +import net.sf.samtools.SAMFileHeader; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import java.io.Serializable; @@ -623,4 +624,37 @@ public class GenomeLoc implements Comparable, Serializable, HasGenome return result; } + + /** + * Calculates the distance between two genomeLocs across contigs (if necessary). + * + * Returns minDistance(other) if in same contig. + * Works with intervals! + * Uses the SAMFileHeader to extract the size of the contigs and follows the order in the dictionary. + * + * @param other the genome loc to compare to + * @param samFileHeader the contig information + * @return the sum of all the bases in between the genomeLocs, including entire contigs + */ + public long distanceAcrossContigs(GenomeLoc other, SAMFileHeader samFileHeader) { + if (onSameContig(other)) + return minDistance(other); + + // add the distance from the first genomeLoc to the end of it's contig and the distance from the + // second genomeLoc to the beginning of it's contig. + long distance = 0; + if (contigIndex < other.contigIndex) { + distance += samFileHeader.getSequence(contigIndex).getSequenceLength() - stop; + distance += other.start; + } else { + distance += samFileHeader.getSequence(other.contigIndex).getSequenceLength() - other.stop; + distance += start; + } + + // add any contig (in its entirety) in between the two genomeLocs + for (int i=Math.min(this.contigIndex, other.contigIndex) + 1; i < Math.max(this.contigIndex, other.contigIndex); i++) { + distance += samFileHeader.getSequence(i).getSequenceLength(); + } + return distance; + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/GenomeLocSortedSet.java b/public/java/src/org/broadinstitute/sting/utils/GenomeLocSortedSet.java index 838ae7535..28cdaaf56 100644 --- a/public/java/src/org/broadinstitute/sting/utils/GenomeLocSortedSet.java +++ b/public/java/src/org/broadinstitute/sting/utils/GenomeLocSortedSet.java @@ -29,28 +29,12 @@ import net.sf.samtools.SAMSequenceDictionary; import net.sf.samtools.SAMSequenceRecord; import org.apache.log4j.Logger; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.interval.IntervalMergingRule; +import org.broadinstitute.sting.utils.interval.IntervalUtils; import java.util.*; /** - * - * User: aaron - * Date: May 22, 2009 - * Time: 10:54:40 AM - * - * The Broad Institute - * SOFTWARE COPYRIGHT NOTICE AGREEMENT - * This software and its documentation are copyright 2009 by the - * Broad Institute/Massachusetts Institute of Technology. All rights are reserved. - * - * This software is supplied without any warranty or guaranteed support whatsoever. Neither - * the Broad Institute nor MIT can be responsible for its use, misuse, or functionality. - * - */ - - -/** - * @author aaron *

    * Class GenomeLocCollection *

    @@ -59,6 +43,10 @@ import java.util.*; * will also remove a region from the list, if the region to remove is a * partial interval of a region in the collection it will remove the region from * that element. + * + * @author aaron + * Date: May 22, 2009 + * Time: 10:54:40 AM */ public class GenomeLocSortedSet extends AbstractSet { private static Logger logger = Logger.getLogger(GenomeLocSortedSet.class); @@ -66,26 +54,47 @@ public class GenomeLocSortedSet extends AbstractSet { private GenomeLocParser genomeLocParser; // our private storage for the GenomeLoc's - private List mArray = new ArrayList(); + private final List mArray = new ArrayList(); // cache this to make overlap checking much more efficient private int previousOverlapSearchIndex = -1; - /** default constructor */ - public GenomeLocSortedSet(GenomeLocParser parser) { + /** + * Create a new, empty GenomeLocSortedSet + * + * @param parser a non-null the parser we use to create genome locs + */ + public GenomeLocSortedSet(final GenomeLocParser parser) { + if ( parser == null ) throw new IllegalArgumentException("parser cannot be null"); this.genomeLocParser = parser; } - public GenomeLocSortedSet(GenomeLocParser parser,GenomeLoc e) { + /** + * Create a new GenomeLocSortedSet containing location e + * + * @param parser a non-null the parser we use to create genome locs + * @param e a single genome locs to add to this set + */ + public GenomeLocSortedSet(final GenomeLocParser parser, final GenomeLoc e) { this(parser); add(e); } - public GenomeLocSortedSet(GenomeLocParser parser,Collection l) { + /** + * Create a new GenomeLocSortedSet containing locations l + * + * The elements in l can be in any order, and can be overlapping. They will be sorted first and + * overlapping (but not contiguous) elements will be merged + * + * @param parser a non-null the parser we use to create genome locs + * @param l a collection of genome locs to add to this set + */ + public GenomeLocSortedSet(final GenomeLocParser parser, final Collection l) { this(parser); - for ( GenomeLoc e : l ) - add(e); + final ArrayList sorted = new ArrayList(l); + Collections.sort(sorted); + mArray.addAll(IntervalUtils.mergeIntervalLocations(sorted, IntervalMergingRule.OVERLAPPING_ONLY)); } /** @@ -199,70 +208,154 @@ public class GenomeLocSortedSet extends AbstractSet { } /** - * add a genomeLoc to the collection, simply inserting in order into the set + * Return a list of intervals overlapping loc * - * @param e the GenomeLoc to add - * - * @return true + * @param loc the location we want overlapping intervals + * @return a non-null list of locations that overlap loc */ - public boolean add(GenomeLoc e) { - // assuming that the intervals coming arrive in order saves us a fair amount of time (and it's most likely true) - if (mArray.size() > 0 && e.isPast(mArray.get(mArray.size() - 1))) { - mArray.add(e); - return true; - } else { - final int loc = Collections.binarySearch(mArray,e); - if (loc >= 0) { - throw new ReviewedStingException("Genome Loc Sorted Set already contains the GenomicLoc " + e.toString()); - } else { - mArray.add((loc+1) * -1,e); - return true; - } + public List getOverlapping(final GenomeLoc loc) { + // the max ensures that if loc would be the first element, that we start searching at the first element + final int index = Collections.binarySearch(mArray, loc); + if ( index >= 0 ) + // we can safely return a singleton because overlapping regions are merged and loc is exactly in + // the set already + return Collections.singletonList(loc); + + // if loc isn't in the list index is (-(insertion point) - 1). The insertion point is defined as the point at + // which the key would be inserted into the list: the index of the first element greater than the key, or list.size() + // -ins - 1 = index => -ins = index + 1 => ins = -(index + 1) + // Note that we look one before the index in this case, as loc might occur after the previous overlapping interval + final int start = Math.max(-(index + 1) - 1, 0); + final int size = mArray.size(); + + final List overlapping = new LinkedList(); + for ( int i = start; i < size; i++ ) { + final GenomeLoc myLoc = mArray.get(i); + if ( loc.overlapsP(myLoc) ) + overlapping.add(myLoc); + else if ( myLoc.isPast(loc) ) + // since mArray is ordered, if myLoc is past loc that means all future + // intervals cannot overlap loc either. So we can safely abort the search + // note that we need to be a bit conservative on our tests since index needs to start + // at -1 the position of index, so it's possible that myLoc and loc don't overlap but the next + // position might + break; } + + return overlapping; + } + + /** + * Return a list of intervals overlapping loc by enumerating all locs and testing for overlap + * + * Purely for testing purposes -- this is way to slow for any production code + * + * @param loc the location we want overlapping intervals + * @return a non-null list of locations that overlap loc + */ + protected List getOverlappingFullSearch(final GenomeLoc loc) { + final List overlapping = new LinkedList(); + + // super slow, but definitely works + for ( final GenomeLoc myLoc : mArray ) { + if ( loc.overlapsP(myLoc) ) + overlapping.add(myLoc); + } + + return overlapping; + } + + /** + * Adds a GenomeLoc to the collection, inserting at the correct sorted position into the set. + * Throws an exception if the loc overlaps another loc already in the set. + * + * @param loc the GenomeLoc to add + * + * @return true if the loc was added or false otherwise (if the loc was null) + */ + public boolean add(final GenomeLoc loc) { + return add(loc, false); } /** * Adds a GenomeLoc to the collection, merging it if it overlaps another region. - * If it's not overlapping then we add it in sorted order. + * If it's not overlapping then we insert it at the correct sorted position into the set. * - * @param e the GenomeLoc to add to the collection + * @param loc the GenomeLoc to add * - * @return true, if the GenomeLoc could be added to the collection + * @return true if the loc was added or false otherwise (if the loc was null) */ - public boolean addRegion(GenomeLoc e) { - if (e == null) { - return false; - } - // have we added it to the collection? - boolean haveAdded = false; + public boolean addRegion(final GenomeLoc loc) { + return add(loc, true); + } - /** - * check if the specified element overlaps any current locations, if so - * we should merge the two. - */ - for (GenomeLoc g : mArray) { - if (g.contiguousP(e)) { - GenomeLoc c = g.merge(e); - mArray.set(mArray.indexOf(g), c); - haveAdded = true; - } else if ((g.getContigIndex() == e.getContigIndex()) && - (e.getStart() < g.getStart()) && !haveAdded) { - mArray.add(mArray.indexOf(g), e); - return true; - } else if (haveAdded && ((e.getContigIndex() > e.getContigIndex()) || - (g.getContigIndex() == e.getContigIndex() && e.getStart() > g.getStart()))) { - return true; - } + /** + * Adds a GenomeLoc to the collection, inserting at the correct sorted position into the set. + * + * @param loc the GenomeLoc to add + * @param mergeIfIntervalOverlaps if true we merge the interval if it overlaps another one already in the set, otherwise we throw an exception + * + * @return true if the loc was added or false otherwise (if the loc was null or an exact duplicate) + */ + public boolean add(final GenomeLoc loc, final boolean mergeIfIntervalOverlaps) { + if ( loc == null ) + return false; + + // if we have no other intervals yet or if the new loc is past the last one in the list (which is usually the + // case because locs are generally added in order) then be extra efficient and just add the loc to the end + if ( mArray.size() == 0 || loc.isPast(mArray.get(mArray.size() - 1)) ) { + return mArray.add(loc); } - /** we're at the end and we haven't found locations that should fall after it, - * so we'll put it at the end - */ - if (!haveAdded) { - mArray.add(e); + + // find where in the list the new loc belongs + final int binarySearchIndex = Collections.binarySearch(mArray,loc); + + // if it already exists in the list, return or throw an exception as needed + if ( binarySearchIndex >= 0 ) { + if ( mergeIfIntervalOverlaps ) + return false; + throw new IllegalArgumentException("GenomeLocSortedSet already contains the GenomeLoc " + loc); } + + // if it overlaps a loc already in the list merge or throw an exception as needed + final int insertionIndex = -1 * (binarySearchIndex + 1); + if ( ! mergeOverlappingIntervalsFromAdd(loc, insertionIndex, !mergeIfIntervalOverlaps) ) { + // it does not overlap any current intervals, so add it to the set + mArray.add(insertionIndex, loc); + } + return true; } + /* + * If the provided GenomeLoc overlaps another already in the set, merge them (or throw an exception if requested) + * + * @param loc the GenomeLoc to add + * @param insertionIndex the index in the sorted set to add the new loc + * @param throwExceptionIfOverlapping if true we throw an exception if there's overlap, otherwise we merge them + * + * @return true if the loc was added or false otherwise + */ + private boolean mergeOverlappingIntervalsFromAdd(final GenomeLoc loc, final int insertionIndex, final boolean throwExceptionIfOverlapping) { + // try merging with the previous index + if ( insertionIndex != 0 && loc.overlapsP(mArray.get(insertionIndex - 1)) ) { + if ( throwExceptionIfOverlapping ) + throw new IllegalArgumentException(String.format("GenomeLocSortedSet contains a GenomeLoc (%s) that overlaps with the provided one (%s)", mArray.get(insertionIndex - 1).toString(), loc.toString())); + mArray.set(insertionIndex - 1, mArray.get(insertionIndex - 1).merge(loc)); + return true; + } + + // try merging with the following index + if ( insertionIndex < mArray.size() && loc.overlapsP(mArray.get(insertionIndex)) ) { + if ( throwExceptionIfOverlapping ) + throw new IllegalArgumentException(String.format("GenomeLocSortedSet contains a GenomeLoc (%s) that overlaps with the provided one (%s)", mArray.get(insertionIndex).toString(), loc.toString())); + mArray.set(insertionIndex, mArray.get(insertionIndex).merge(loc)); + return true; + } + + return false; + } + public GenomeLocSortedSet subtractRegions(GenomeLocSortedSet toRemoveSet) { LinkedList good = new LinkedList(); Stack toProcess = new Stack(); @@ -324,11 +417,11 @@ public class GenomeLocSortedSet extends AbstractSet { * * @return the GenomeLocSet of all references sequences as GenomeLoc's */ - public static GenomeLocSortedSet createSetFromSequenceDictionary(SAMSequenceDictionary dict) { - GenomeLocParser parser = new GenomeLocParser(dict); - GenomeLocSortedSet returnSortedSet = new GenomeLocSortedSet(parser); - for (SAMSequenceRecord record : dict.getSequences()) { - returnSortedSet.add(parser.createGenomeLoc(record.getSequenceName(), 1, record.getSequenceLength())); + public static GenomeLocSortedSet createSetFromSequenceDictionary(final SAMSequenceDictionary dict) { + final GenomeLocParser parser = new GenomeLocParser(dict); + final GenomeLocSortedSet returnSortedSet = new GenomeLocSortedSet(parser); + for ( final SAMSequenceRecord sequence : dict.getSequences() ) { + returnSortedSet.add(parser.createOverEntireContig(sequence.getSequenceName())); } return returnSortedSet; } @@ -380,31 +473,4 @@ public class GenomeLocSortedSet extends AbstractSet { return s.toString(); } - - /** - * Check to see whether two genomeLocSortedSets are equal. - * Note that this implementation ignores the contigInfo object. - * - */ /* - @Override - public boolean equals(Object other) { - if(other == null) - return false; - if(other instanceof GenomeLocSortedSet) { - // send to a list, so we can ensure order correct - List otherList = ((GenomeLocSortedSet)other).toList(); - List thisList = this.toList(); - if (otherList.size() != this.size()) - return false; - - for (Integer i=0;i eventMap = null; private Cigar cigar; private int alignmentStartHapwrtRef; - public int leftBreakPoint = 0; - public int rightBreakPoint = 0; private Event artificialEvent = null; /** @@ -61,6 +62,15 @@ public class Haplotype extends Allele { this(bases, false); } + /** + * Copy constructor. Note the ref state of the provided allele is ignored! + * + * @param allele allele to copy + */ + public Haplotype( final Allele allele ) { + super(allele, true); + } + protected Haplotype( final byte[] bases, final Event artificialEvent ) { this(bases, false); this.artificialEvent = artificialEvent; @@ -94,10 +104,6 @@ public class Haplotype extends Allele { return getDisplayString(); } - public byte[] getBases() { - return super.getBases().clone(); - } - public long getStartPosition() { return genomeLocation.getStart(); } @@ -118,6 +124,19 @@ public class Haplotype extends Allele { return cigar; } + /** + * Get the haplotype cigar extended by padSize M at the tail, consolidated into a clean cigar + * + * @param padSize how many additional Ms should be appended to the end of this cigar. Must be >= 0 + * @return a newly allocated Cigar that consolidate(getCigar + padSize + M) + */ + public Cigar getConsolidatedPaddedCigar(final int padSize) { + if ( padSize < 0 ) throw new IllegalArgumentException("padSize must be >= 0 but got " + padSize); + final Cigar extendedHaplotypeCigar = new Cigar(getCigar().getCigarElements()); + if ( padSize > 0 ) extendedHaplotypeCigar.add(new CigarElement(padSize, CigarOperator.M)); + return AlignmentUtils.consolidateCigar(extendedHaplotypeCigar); + } + public void setCigar( final Cigar cigar ) { this.cigar = cigar; } @@ -150,13 +169,15 @@ public class Haplotype extends Allele { public Haplotype insertAllele( final Allele refAllele, final Allele altAllele, final int refInsertLocation, final int genomicInsertLocation ) { // refInsertLocation is in ref haplotype offset coordinates NOT genomic coordinates final int haplotypeInsertLocation = ReadUtils.getReadCoordinateForReferenceCoordinate(alignmentStartHapwrtRef, cigar, refInsertLocation, ReadUtils.ClippingTail.RIGHT_TAIL, true); - if( haplotypeInsertLocation == -1 || haplotypeInsertLocation + refAllele.length() >= getBases().length ) { // desired change falls inside deletion so don't bother creating a new haplotype + final byte[] myBases = this.getBases(); + if( haplotypeInsertLocation == -1 || haplotypeInsertLocation + refAllele.length() >= myBases.length ) { // desired change falls inside deletion so don't bother creating a new haplotype return null; } + byte[] newHaplotypeBases = new byte[]{}; - newHaplotypeBases = ArrayUtils.addAll(newHaplotypeBases, ArrayUtils.subarray(getBases(), 0, haplotypeInsertLocation)); // bases before the variant + newHaplotypeBases = ArrayUtils.addAll(newHaplotypeBases, ArrayUtils.subarray(myBases, 0, haplotypeInsertLocation)); // bases before the variant newHaplotypeBases = ArrayUtils.addAll(newHaplotypeBases, altAllele.getBases()); // the alt allele of the variant - newHaplotypeBases = ArrayUtils.addAll(newHaplotypeBases, ArrayUtils.subarray(getBases(), haplotypeInsertLocation + refAllele.length(), getBases().length)); // bases after the variant + newHaplotypeBases = ArrayUtils.addAll(newHaplotypeBases, ArrayUtils.subarray(myBases, haplotypeInsertLocation + refAllele.length(), myBases.length)); // bases after the variant return new Haplotype(newHaplotypeBases, new Event(refAllele, altAllele, genomicInsertLocation)); } @@ -199,7 +220,7 @@ public class Haplotype extends Allele { if (refAllele == null) throw new ReviewedStingException("BUG: no ref alleles in input to makeHaplotypeListfrom Alleles at loc: "+ startPos); - byte[] refBases = ref.getBases(); + final byte[] refBases = ref.getBases(); final int startIdxInReference = 1 + startPos - numPrefBases - ref.getWindow().getStart(); final String basesBeforeVariant = new String(Arrays.copyOfRange(refBases, startIdxInReference, startIdxInReference + numPrefBases)); diff --git a/public/java/src/org/broadinstitute/sting/utils/MathUtils.java b/public/java/src/org/broadinstitute/sting/utils/MathUtils.java index 0c3ed87c0..2459c1d36 100644 --- a/public/java/src/org/broadinstitute/sting/utils/MathUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/MathUtils.java @@ -1244,11 +1244,33 @@ public class MathUtils { /** * Checks that the result is a well-formed log10 probability * - * @param result a supposedly well-formed log10 probability value + * @param result a supposedly well-formed log10 probability value. By default allows + * -Infinity values, as log10(0.0) == -Infinity. * @return true if result is really well formed */ public static boolean goodLog10Probability(final double result) { - return result <= 0.0 && ! Double.isInfinite(result) && ! Double.isNaN(result); + return goodLog10Probability(result, true); + } + + /** + * Checks that the result is a well-formed log10 probability + * + * @param result a supposedly well-formed log10 probability value + * @param allowNegativeInfinity should we consider a -Infinity value ok? + * @return true if result is really well formed + */ + public static boolean goodLog10Probability(final double result, final boolean allowNegativeInfinity) { + return result <= 0.0 && result != Double.POSITIVE_INFINITY && (allowNegativeInfinity || result != Double.NEGATIVE_INFINITY) && ! Double.isNaN(result); + } + + /** + * Checks that the result is a well-formed probability + * + * @param result a supposedly well-formed probability value + * @return true if result is really well formed + */ + public static boolean goodProbability(final double result) { + return result >= 0.0 && result <= 1.0 && ! Double.isInfinite(result) && ! Double.isNaN(result); } /** @@ -1343,28 +1365,6 @@ public class MathUtils { return Math.max(a, x2); } - public static double phredScaleToProbability(byte q) { - return Math.pow(10, (-q) / 10.0); - } - - public static double phredScaleToLog10Probability(byte q) { - return ((-q) / 10.0); - } - - /** - * Returns the phred scaled value of probability p - * - * @param p probability (between 0 and 1). - * @return phred scaled probability of p - */ - public static byte probabilityToPhredScale(double p) { - return (byte) ((-10) * Math.log10(p)); - } - - public static double log10ProbabilityToPhredScale(double log10p) { - return (-10) * log10p; - } - /** * Converts LN to LOG10 * @@ -1774,4 +1774,26 @@ public class MathUtils { return values; } + + /** + * Compute in a numerical correct way the quanity log10(1-x) + * + * Uses the approximation log10(1-x) = log10(1/x - 1) + log10(x) to avoid very quick underflow + * in 1-x when x is very small + * + * @param x a positive double value between 0.0 and 1.0 + * @return an estimate of log10(1-x) + */ + @Requires("x >= 0.0 && x <= 1.0") + @Ensures("result <= 0.0") + public static double log10OneMinusX(final double x) { + if ( x == 1.0 ) + return Double.NEGATIVE_INFINITY; + else if ( x == 0.0 ) + return 0.0; + else { + final double d = Math.log10(1 / x - 1) + Math.log10(x); + return Double.isInfinite(d) || d > 0.0 ? 0.0 : d; + } + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java b/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java index e911e587a..f08564644 100644 --- a/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java +++ b/public/java/src/org/broadinstitute/sting/utils/NGSPlatform.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.utils; +import org.broadinstitute.sting.utils.sam.GATKSAMReadGroupRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; /** @@ -36,22 +37,29 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord; * @since 2011 */ public enum NGSPlatform { + // note the order of elements here determines the order of matching operations, and therefore the + // efficiency of getting a NGSPlatform from a string. ILLUMINA("ILLUMINA", "SLX", "SOLEXA"), SOLID("SOLID"), LS454("454"), COMPLETE_GENOMICS("COMPLETE"), PACBIO("PACBIO"), ION_TORRENT("IONTORRENT"), + CAPILLARY("CAPILLARY"), + HELICOS("HELICOS"), UNKNOWN("UNKNOWN"); /** * Array of the prefix names in a BAM file for each of the platforms. */ - private final String[] BAM_PL_NAMES; + protected final String[] BAM_PL_NAMES; NGSPlatform(final String... BAM_PL_NAMES) { + if ( BAM_PL_NAMES.length == 0 ) throw new IllegalStateException("Platforms must have at least one name"); + for ( int i = 0; i < BAM_PL_NAMES.length; i++ ) BAM_PL_NAMES[i] = BAM_PL_NAMES[i].toUpperCase(); + this.BAM_PL_NAMES = BAM_PL_NAMES; } @@ -64,21 +72,24 @@ public enum NGSPlatform { } /** - * Convenience get -- get the NGSPlatfrom from a SAMRecord. + * Convenience get -- get the NGSPlatform from a GATKSAMRecord. * * Just gets the platform from the GATKReadGroupRecord associated with this read. * - * @param read a GATKSAMRecord - * @return an NGSPlatform object matching the PL field of the header, of UNKNOWN if there was no match + * @param read a non-null GATKSAMRecord + * @return an NGSPlatform object matching the PL field of the header, of UNKNOWN if there was no match, + * if there is no read group for read, or there's no PL field for the read group */ - public static NGSPlatform fromRead(GATKSAMRecord read) { - return read.getReadGroup().getNGSPlatform(); + public static NGSPlatform fromRead(final GATKSAMRecord read) { + if ( read == null ) throw new IllegalArgumentException("read cannot be null"); + final GATKSAMReadGroupRecord rg = read.getReadGroup(); + return rg == null ? UNKNOWN : rg.getNGSPlatform(); } /** * Returns the NGSPlatform corresponding to the PL tag in the read group - * @param plFromRG -- the PL field (or equivalent) in a ReadGroup object - * @return an NGSPlatform object matching the PL field of the header, or UNKNOWN if there was no match + * @param plFromRG -- the PL field (or equivalent) in a ReadGroup object. Can be null => UNKNOWN + * @return an NGSPlatform object matching the PL field of the header, or UNKNOWN if there was no match or plFromRG is null */ public static NGSPlatform fromReadGroupPL(final String plFromRG) { if ( plFromRG == null ) return UNKNOWN; @@ -100,10 +111,10 @@ public enum NGSPlatform { /** * checks whether or not the requested platform is listed in the set (and is not unknown) * - * @param platform the read group string that describes the platform used + * @param platform the read group string that describes the platform used. can be null * @return true if the platform is known (i.e. it's in the list and is not UNKNOWN) */ - public static final boolean isKnown(final String platform) { + public static boolean isKnown(final String platform) { return fromReadGroupPL(platform) != UNKNOWN; } } diff --git a/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java b/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java index 4519a656b..fe782bc31 100644 --- a/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/QualityUtils.java @@ -25,38 +25,49 @@ package org.broadinstitute.sting.utils; +import com.google.java.contract.Ensures; import net.sf.samtools.SAMUtils; /** * QualityUtils is a static class (no instantiation allowed!) with some utility methods for manipulating * quality scores. * - * @author Kiran Garimella + * @author Kiran Garimella, Mark DePristo + * @since Way back */ public class QualityUtils { - public final static byte MAX_RECALIBRATED_Q_SCORE = SAMUtils.MAX_PHRED_SCORE; - public final static byte MAX_QUAL_SCORE = SAMUtils.MAX_PHRED_SCORE; - public final static double ERROR_RATE_OF_MAX_QUAL_SCORE = qualToErrorProbRaw(MAX_QUAL_SCORE); + /** + * Maximum quality score that can be encoded in a SAM/BAM file + */ + public final static byte MAX_SAM_QUAL_SCORE = SAMUtils.MAX_PHRED_SCORE; - public final static double MIN_REASONABLE_ERROR = 0.0001; - public final static byte MAX_REASONABLE_Q_SCORE = 60; // bams containing quals above this value are extremely suspicious and we should warn the user - public final static byte MAX_GATK_USABLE_Q_SCORE = 40; // quals above this value should be capped down to this value (because they are too high) + + private final static double RAW_MIN_PHRED_SCALED_QUAL = Math.log10(Double.MIN_VALUE); + protected final static double MIN_PHRED_SCALED_QUAL = -10.0 * RAW_MIN_PHRED_SCALED_QUAL; + + /** + * bams containing quals above this value are extremely suspicious and we should warn the user + */ + public final static byte MAX_REASONABLE_Q_SCORE = 60; + + /** + * The lowest quality score for a base that is considered reasonable for statistical analysis. This is + * because Q 6 => you stand a 25% of being right, which means all bases are equally likely + */ public final static byte MIN_USABLE_Q_SCORE = 6; public final static int MAPPING_QUALITY_UNAVAILABLE = 255; + /** + * Cached values for qual as byte calculations so they are very fast + */ private static double qualToErrorProbCache[] = new double[256]; - static { - for (int i = 0; i < 256; i++) qualToErrorProbCache[i] = qualToErrorProbRaw(i); - } - - private static double qualToErrorProbLog10Cache[] = new double[256]; - static { - for (int i = 0; i < 256; i++) qualToErrorProbLog10Cache[i] = qualToErrorProbLog10Raw(i); - } - private static double qualToProbLog10Cache[] = new double[256]; + static { - for (int i = 0; i < 256; i++) qualToProbLog10Cache[i] = qualToProbLog10Raw(i); + for (int i = 0; i < 256; i++) { + qualToErrorProbCache[i] = qualToErrorProb((double) i); + qualToProbLog10Cache[i] = Math.log10(1.0 - qualToErrorProbCache[i]); + } } /** @@ -64,111 +75,314 @@ public class QualityUtils { */ private QualityUtils() {} + // ---------------------------------------------------------------------- + // + // These are all functions to convert a phred-scaled quality score to a probability + // + // ---------------------------------------------------------------------- + /** - * Convert a quality score to a probability. This is the Phred-style - * conversion, *not* the Illumina-style conversion (though asymptotically, they're the same). + * Convert a phred-scaled quality score to its probability of being true (Q30 => 0.999) + * + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * Because the input is a discretized byte value, this function uses a cache so is very efficient + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) * * @param qual a quality score (0-255) * @return a probability (0.0-1.0) */ - static public double qualToProb(byte qual) { + @Ensures("result >= 0.0 && result <= 1.0") + public static double qualToProb(final byte qual) { return 1.0 - qualToErrorProb(qual); } - static public double qualToProb(double qual) { - return 1.0 - Math.pow(10.0, qual/(-10.0)); + /** + * Convert a phred-scaled quality score to its probability of being true (Q30 => 0.999) + * + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * Because the input is a double value, this function must call Math.pow so can be quite expensive + * + * @param qual a phred-scaled quality score encoded as a double. Can be non-integer values (30.5) + * @return a probability (0.0-1.0) + */ + @Ensures("result >= 0.0 && result <= 1.0") + public static double qualToProb(final double qual) { + if ( qual < 0.0 ) throw new IllegalArgumentException("qual must be >= 0.0 but got " + qual); + return 1.0 - qualToErrorProb(qual); } - static private double qualToProbLog10Raw(int qual) { - return Math.log10(1.0 - qualToErrorProbRaw(qual)); - } - - static public double qualToProbLog10(byte qual) { + /** + * Convert a phred-scaled quality score to its log10 probability of being true (Q30 => log10(0.999)) + * + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * Because the input is a double value, this function must call Math.pow so can be quite expensive + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) + * + * @param qual a phred-scaled quality score encoded as a double. Can be non-integer values (30.5) + * @return a probability (0.0-1.0) + */ + @Ensures("result <= 0.0") + public static double qualToProbLog10(final byte qual) { return qualToProbLog10Cache[(int)qual & 0xff]; // Map: 127 -> 127; -128 -> 128; -1 -> 255; etc. } /** - * Convert a quality score to a probability of error. This is the Phred-style - * conversion, *not* the Illumina-style conversion (though asymptotically, they're the same). + * Convert a phred-scaled quality score to its probability of being wrong (Q30 => 0.001) * - * @param qual a quality score (0 - 255) - * @return a probability (0.0 - 1.0) + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * Because the input is a double value, this function must call Math.pow so can be quite expensive + * + * @param qual a phred-scaled quality score encoded as a double. Can be non-integer values (30.5) + * @return a probability (0.0-1.0) */ - static private double qualToErrorProbRaw(int qual) { - return qualToErrorProb((double) qual); - } - + @Ensures("result >= 0.0 && result <= 1.0") public static double qualToErrorProb(final double qual) { - return Math.pow(10.0, qual/-10.0); + if ( qual < 0.0 ) throw new IllegalArgumentException("qual must be >= 0.0 but got " + qual); + return Math.pow(10.0, qual / -10.0); } - - static public double qualToErrorProb(byte qual) { + /** + * Convert a phred-scaled quality score to its probability of being wrong (Q30 => 0.001) + * + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * Because the input is a byte value, this function uses a cache so is very efficient + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) + * + * @param qual a phred-scaled quality score encoded as a byte + * @return a probability (0.0-1.0) + */ + @Ensures("result >= 0.0 && result <= 1.0") + public static double qualToErrorProb(final byte qual) { return qualToErrorProbCache[(int)qual & 0xff]; // Map: 127 -> 127; -128 -> 128; -1 -> 255; etc. } - static private double qualToErrorProbLog10Raw(int qual) { - return ((double) qual)/-10.0; - } - static public double qualToErrorProbLog10(byte qual) { - return qualToErrorProbLog10Cache[(int)qual & 0xff]; // Map: 127 -> 127; -128 -> 128; -1 -> 255; etc. - } - - static public double qualToErrorProbLog10(final double qual) { - return qual/-10.0; + /** + * Convert a phred-scaled quality score to its log10 probability of being wrong (Q30 => log10(0.001)) + * + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * The calculation is extremely efficient + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) + * + * @param qual a phred-scaled quality score encoded as a byte + * @return a probability (0.0-1.0) + */ + @Ensures("result <= 0.0") + public static double qualToErrorProbLog10(final byte qual) { + return qualToErrorProbLog10((double)(qual & 0xFF)); } /** - * Convert a probability to a quality score. Note, this is capped at Q40. + * Convert a phred-scaled quality score to its log10 probability of being wrong (Q30 => log10(0.001)) * - * @param prob a probability (0.0-1.0) - * @return a quality score (0-40) + * This is the Phred-style conversion, *not* the Illumina-style conversion. + * + * The calculation is extremely efficient + * + * @param qual a phred-scaled quality score encoded as a double + * @return a probability (0.0-1.0) */ - static public byte probToQual(double prob) { - return probToQual(prob, MIN_REASONABLE_ERROR); - //return (byte) Math.round(-10.0*Math.log10(1.0 - prob + 0.0001)); + @Ensures("result <= 0.0") + public static double qualToErrorProbLog10(final double qual) { + if ( qual < 0.0 ) throw new IllegalArgumentException("qual must be >= 0.0 but got " + qual); + return qual / -10.0; + } + + // ---------------------------------------------------------------------- + // + // Functions to convert a probability to a phred-scaled quality score + // + // ---------------------------------------------------------------------- + + /** + * Convert a probability of being wrong to a phred-scaled quality score (0.01 => 20). + * + * Note, this function caps the resulting quality score by the public static value MAX_SAM_QUAL_SCORE + * and by 1 at the low-end. + * + * @param errorRate a probability (0.0-1.0) of being wrong (i.e., 0.01 is 1% change of being wrong) + * @return a quality score (0-MAX_SAM_QUAL_SCORE) + */ + public static byte errorProbToQual(final double errorRate) { + return errorProbToQual(errorRate, MAX_SAM_QUAL_SCORE); } /** - * Convert a probability to a quality score. Note, this is capped at a quality score which is determined by _eps_. + * Convert a probability of being wrong to a phred-scaled quality score (0.01 => 20). * - * @param prob a probability (0.0-1.0) - * @param eps min probabilty allowed (0.0-1.0) - * @return a quality score (0-255) + * Note, this function caps the resulting quality score by the public static value MIN_REASONABLE_ERROR + * and by 1 at the low-end. + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) + * + * @param errorRate a probability (0.0-1.0) of being wrong (i.e., 0.01 is 1% change of being wrong) + * @return a quality score (0-maxQual) */ - static public byte probToQual(double prob, double eps) { - double lp = Math.round(-10.0*Math.log10(1.0 - prob + eps)); - //System.out.printf("LP is %f, byte is %d%n", lp, b); - return boundQual((int)lp); - } - - static public double phredScaleCorrectRate(double trueRate) { - return phredScaleErrorRate(1-trueRate); - } - - static public double phredScaleErrorRate(double errorRate) { - return Math.abs(-10.0*Math.log10(errorRate)); + public static byte errorProbToQual(final double errorRate, final byte maxQual) { + if ( ! MathUtils.goodProbability(errorRate) ) throw new IllegalArgumentException("errorRate must be good probability but got " + errorRate); + final double d = Math.round(-10.0*Math.log10(errorRate)); + return boundQual((int)d, maxQual); } /** - * Return a quality score, capped at max qual. - * - * @param qual the uncapped quality score - * @return the capped quality score + * @see #errorProbToQual(double, byte) with proper conversion of maxQual integer to a byte */ - static public byte boundQual(int qual) { - return boundQual(qual, MAX_QUAL_SCORE); + public static byte errorProbToQual(final double prob, final int maxQual) { + if ( maxQual < 0 || maxQual > 255 ) throw new IllegalArgumentException("maxQual must be between 0-255 but got " + maxQual); + return errorProbToQual(prob, (byte)(maxQual & 0xFF)); } /** - * Returns an integer quality score bounded by 1 - maxQual. + * Convert a probability of being right to a phred-scaled quality score (0.99 => 20). * - * @param qual the quality score - * @param maxQual the maximum quality - * @return the integer betwen 1 and maxqual. + * Note, this function caps the resulting quality score by the public static value MAX_SAM_QUAL_SCORE + * and by 1 at the low-end. + * + * @param prob a probability (0.0-1.0) of being right + * @return a quality score (0-MAX_SAM_QUAL_SCORE) */ - static public byte boundQual(int qual, byte maxQual) { - return (byte) Math.max(Math.min(qual, maxQual), 1); + public static byte trueProbToQual(final double prob) { + return trueProbToQual(prob, MAX_SAM_QUAL_SCORE); + } + + /** + * Convert a probability of being right to a phred-scaled quality score (0.99 => 20). + * + * Note, this function caps the resulting quality score by the min probability allowed (EPS). + * So for example, if prob is 1e-6, which would imply a Q-score of 60, and EPS is 1e-4, + * the result of this function is actually Q40. + * + * Note that the resulting quality score, regardless of EPS, is capped by MAX_SAM_QUAL_SCORE and + * bounded on the low-side by 1. + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) + * + * @param trueProb a probability (0.0-1.0) of being right + * @param maxQual the maximum quality score we are allowed to emit here, regardless of the error rate + * @return a phred-scaled quality score (0-maxQualScore) as a byte + */ + @Ensures("(result & 0xFF) >= 1 && (result & 0xFF) <= (maxQual & 0xFF)") + public static byte trueProbToQual(final double trueProb, final byte maxQual) { + if ( ! MathUtils.goodProbability(trueProb) ) throw new IllegalArgumentException("trueProb must be good probability but got " + trueProb); + final double lp = Math.round(-10.0*MathUtils.log10OneMinusX(trueProb)); + return boundQual((int)lp, maxQual); + } + + /** + * @see #trueProbToQual(double, byte) with proper conversion of maxQual to a byte + */ + public static byte trueProbToQual(final double prob, final int maxQual) { + if ( maxQual < 0 || maxQual > 255 ) throw new IllegalArgumentException("maxQual must be between 0-255 but got " + maxQual); + return trueProbToQual(prob, (byte)(maxQual & 0xFF)); + } + + /** + * Convert a probability of being right to a phred-scaled quality score of being wrong as a double + * + * This is a very generic method, that simply computes a phred-scaled double quality + * score given an error rate. It has the same precision as a normal double operation + * + * @param trueRate the probability of being right (0.0-1.0) + * @return a phred-scaled version of the error rate implied by trueRate + */ + @Ensures("result >= 0.0") + public static double phredScaleCorrectRate(final double trueRate) { + return phredScaleLog10ErrorRate(MathUtils.log10OneMinusX(trueRate)); + } + + /** + * Convert a log10 probability of being right to a phred-scaled quality score of being wrong as a double + * + * This is a very generic method, that simply computes a phred-scaled double quality + * score given an error rate. It has the same precision as a normal double operation + * + * @param trueRateLog10 the log10 probability of being right (0.0-1.0). Can be -Infinity to indicate + * that the result is impossible in which MIN_PHRED_SCALED_QUAL is returned + * @return a phred-scaled version of the error rate implied by trueRate + */ + @Ensures("result >= 0.0") + public static double phredScaleLog10CorrectRate(final double trueRateLog10) { + return phredScaleCorrectRate(Math.pow(10.0, trueRateLog10)); + } + + /** + * Convert a probability of being wrong to a phred-scaled quality score of being wrong as a double + * + * This is a very generic method, that simply computes a phred-scaled double quality + * score given an error rate. It has the same precision as a normal double operation + * + * @param errorRate the probability of being wrong (0.0-1.0) + * @return a phred-scaled version of the error rate + */ + @Ensures("result >= 0.0") + public static double phredScaleErrorRate(final double errorRate) { + return phredScaleLog10ErrorRate(Math.log10(errorRate)); + } + + /** + * Convert a log10 probability of being wrong to a phred-scaled quality score of being wrong as a double + * + * This is a very generic method, that simply computes a phred-scaled double quality + * score given an error rate. It has the same precision as a normal double operation + * + * @param errorRateLog10 the log10 probability of being wrong (0.0-1.0). Can be -Infinity, in which case + * the result is MIN_PHRED_SCALED_QUAL + * @return a phred-scaled version of the error rate + */ + @Ensures("result >= 0.0") + public static double phredScaleLog10ErrorRate(final double errorRateLog10) { + if ( ! MathUtils.goodLog10Probability(errorRateLog10) ) throw new IllegalArgumentException("errorRateLog10 must be good probability but got " + errorRateLog10); + // abs is necessary for edge base with errorRateLog10 = 0 producing -0.0 doubles + return Math.abs(-10.0 * Math.max(errorRateLog10, RAW_MIN_PHRED_SCALED_QUAL)); + } + + // ---------------------------------------------------------------------- + // + // Routines to bound a quality score to a reasonable range + // + // ---------------------------------------------------------------------- + + /** + * Return a quality score that bounds qual by MAX_SAM_QUAL_SCORE and 1 + * + * @param qual the uncapped quality score as an integer + * @return the bounded quality score + */ + @Ensures("(result & 0xFF) >= 1 && (result & 0xFF) <= (MAX_SAM_QUAL_SCORE & 0xFF)") + public static byte boundQual(int qual) { + return boundQual(qual, MAX_SAM_QUAL_SCORE); + } + + /** + * Return a quality score that bounds qual by maxQual and 1 + * + * WARNING -- because this function takes a byte for maxQual, you must be careful in converting + * integers to byte. The appropriate way to do this is ((byte)(myInt & 0xFF)) + * + * @param qual the uncapped quality score as an integer. Can be < 0 (which may indicate an error in the + * client code), which will be brought back to 1, but this isn't an error, as some + * routines may use this functionality (BaseRecalibrator, for example) + * @param maxQual the maximum quality score, must be less < 255 + * @return the bounded quality score + */ + @Ensures("(result & 0xFF) >= 1 && (result & 0xFF) <= (maxQual & 0xFF)") + public static byte boundQual(final int qual, final byte maxQual) { + return (byte) (Math.max(Math.min(qual, maxQual & 0xFF), 1) & 0xFF); } } diff --git a/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignment.java b/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignment.java index 7bd937af9..e501cf40a 100644 --- a/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignment.java +++ b/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignment.java @@ -1,28 +1,28 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + package org.broadinstitute.sting.utils; import net.sf.samtools.Cigar; @@ -30,17 +30,23 @@ import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.StingException; +import org.broadinstitute.sting.utils.sam.AlignmentUtils; import java.util.*; /** - * Created by IntelliJ IDEA. + * Pairwise discrete smith-waterman alignment + * + * ************************************************************************ + * **** IMPORTANT NOTE: **** + * **** This class assumes that all bytes come from UPPERCASED chars! **** + * ************************************************************************ + * * User: asivache * Date: Mar 23, 2009 * Time: 1:54:54 PM - * To change this template use File | Settings | File Templates. */ -public class SWPairwiseAlignment { +public final class SWPairwiseAlignment { private int alignment_offset; // offset of s2 w/respect to s1 private Cigar alignmentCigar; @@ -54,24 +60,11 @@ public class SWPairwiseAlignment { private static final int DSTATE = 2; private static final int CLIP = 3; - private static boolean cutoff = false; + protected static boolean cutoff = false; private static boolean DO_SOFTCLIP = true; double[] SW; -// private double [] best_gap_v ; -// private int [] gap_size_v ; -// private double [] best_gap_h ; -// private int [] gap_size_h ; - - - // private static double [][] sw = new double[500][500]; - // private static int [][] btrack = new int[500][500]; - - // ************************************************************************ - // **** IMPORTANT NOTE: **** - // **** This class assumes that all bytes come from UPPERCASED chars! **** - // ************************************************************************ public SWPairwiseAlignment(byte[] seq1, byte[] seq2, double match, double mismatch, double open, double extend ) { w_match = match; w_mismatch = mismatch; @@ -80,12 +73,10 @@ public class SWPairwiseAlignment { align(seq1,seq2); } - public SWPairwiseAlignment(byte[] seq1, byte[] seq2) { this(seq1,seq2,1.0,-1.0/3.0,-1.0-1.0/3.0,-1.0/3.0); // match=1, mismatch = -1/3, gap=-(1+k/3) } - public Cigar getCigar() { return alignmentCigar ; } public int getAlignmentStart2wrt1() { return alignment_offset; } @@ -97,13 +88,6 @@ public class SWPairwiseAlignment { SW = sw; int [] btrack = new int[(n+1)*(m+1)]; -// best_gap_v = new double[m+1]; -// Arrays.fill(best_gap_v,-1.0e40); -// gap_size_v = new int[m+1]; -// best_gap_h = new double[n+1]; -// Arrays.fill(best_gap_h,-1.0e40); -// gap_size_h = new int[n+1]; - calculateMatrix(a, b, sw, btrack); calculateCigar(n, m, sw, btrack); // length of the segment (continuous matches, insertions or deletions) } @@ -169,18 +153,6 @@ public class SWPairwiseAlignment { final double step_down = best_gap_v[j] ; final int kd = gap_size_v[j]; -/* - for ( int k = 1, data_offset_k = data_offset_1+1 ; k < i ; k++, data_offset_k -= m ) { - // data_offset_k is linearized offset of element [i-k][j] - // in other words, trial = sw[i-k][j]+gap_penalty: - final double trial = sw[data_offset_k]+wk(k); - if ( step_down < trial ) { - step_down=trial; - kd = k; - } - } -*/ - // optimized "traversal" of all the matrix cells to the left of the current one (i.e. traversing // all 'step right' events that would end in the current cell. The optimized code // does exactly the same thing as the commented out loop below. IMPORTANT: @@ -202,21 +174,6 @@ public class SWPairwiseAlignment { final double step_right = best_gap_h[i]; final int ki = gap_size_h[i]; -/* - for ( int k = 1, data_offset = row_offset+j-1 ; k < j ; k++, data_offset-- ) { - // data_offset is linearized offset of element [i][j-k] - // in other words, step_right=sw[i][j-k]+gap_penalty; - final double trial = sw[data_offset]+wk(k); - if ( step_right < trial ) { - step_right=trial; - ki = k; - } - } - - final int data_offset = row_offset + j; // linearized offset of element [i][j] -*/ - - if ( step_down > step_right ) { if ( step_down > step_diag ) { sw[data_offset] = Math.max(MATRIX_MIN_CUTOFF,step_down); @@ -235,8 +192,6 @@ public class SWPairwiseAlignment { btrack[data_offset] = 0; // 0 = diagonal } } - -// sw[data_offset] = Math.max(0, Math.max(step_diag,Math.max(step_down,step_right))); } // IMPORTANT, IMPORTANT, IMPORTANT: @@ -245,7 +200,6 @@ public class SWPairwiseAlignment { // in the for() statement itself. row_offset_1 = row_offset; } -// print(sw,a,b); } @@ -271,12 +225,10 @@ public class SWPairwiseAlignment { if ( sw[data_offset] > maxscore || sw[data_offset] == maxscore && Math.abs(n-j) < Math.abs(p1 - p2)) { p1 = n; p2 = j ; -// maxscore = sw[n][j]; maxscore = sw[data_offset]; segment_length = m - j ; // end of sequence 2 is overhanging; we will just record it as 'M' segment } } -// System.out.println(" Found max score="+maxscore+" at p1="+p1+ " p2="+p2); List lce = new ArrayList(5); @@ -291,16 +243,12 @@ public class SWPairwiseAlignment { int state = MSTATE; int data_offset = p1*(m+1)+p2; // offset of element [p1][p2] - // System.out.println("Backtracking: starts at "+p1+":"+p2+" ("+sw[data_offset]+")"); do { -// int btr = btrack[p1][p2]; int btr = btrack[data_offset]; int new_state; int step_length = 1; - // System.out.print(" backtrack value: "+btr); - if ( btr > 0 ) { new_state = DSTATE; step_length = btr; @@ -309,25 +257,16 @@ public class SWPairwiseAlignment { step_length = (-btr); } else new_state = MSTATE; // and step_length =1, already set above - // move to next best location in the sw matrix: switch( new_state ) { case MSTATE: data_offset -= (m+2); p1--; p2--; break; // move back along the diag in th esw matrix case ISTATE: data_offset -= step_length; p2 -= step_length; break; // move left case DSTATE: data_offset -= (m+1)*step_length; p1 -= step_length; break; // move up } - // System.out.println("; backtracked to p1="+p1+" p2="+p2); - /* - switch( new_state ) { - case MSTATE: System.out.println(" diag (match) to "+ sw[data_offset]); break; // equivalent to p1--; p2-- - case ISTATE: System.out.println(" left (insertion, "+step_length+") to "+ sw[data_offset]); break; // equivalent to p2-=step_length; - case DSTATE: System.out.println(" up (deletion, "+step_length+") to "+ sw[data_offset]); break; // equivalent to p1 -= step_up - } - */ + // now let's see if the state actually changed: if ( new_state == state ) segment_length+=step_length; else { -// System.out.println(" emitting "+segment_length+makeElement(state,segment_length).getOperator().toString()); // state changed, lets emit previous segment, whatever it was (Insertion Deletion, or (Mis)Match). lce.add(makeElement(state, segment_length)); segment_length = step_length; @@ -354,11 +293,9 @@ public class SWPairwiseAlignment { } Collections.reverse(lce); - alignmentCigar = new Cigar(lce); - + alignmentCigar = AlignmentUtils.consolidateCigar(new Cigar(lce)); } - private CigarElement makeElement(int state, int segment_length) { CigarOperator o = null; switch(state) { @@ -374,33 +311,11 @@ public class SWPairwiseAlignment { return (x == y ? w_match : w_mismatch); } - private double wk(int k) { - return w_open+(k-1)*w_extend; // gap - } - - private void print(double[] s, byte[] a, byte[] b) { - int n = a.length+1; - int m = b.length+1; - System.out.print(" "); - for ( int j = 1 ; j < m ; j++) System.out.printf(" %5c",(char)b[j-1]) ; - System.out.println(); - - for ( int i = 0, row_offset = 0 ; i < n ; i++, row_offset+=m) { - if ( i > 0 ) System.out.print((char)a[i-1]); - else System.out.print(' '); - System.out.print(" "); - for ( int j = 0; j < m ; j++ ) { - System.out.printf(" %5.1f",s[row_offset+j]); - } - System.out.println(); - } - } - - static void printAlignment(SWPairwiseAlignment a, byte[] ref, byte[] read) { - printAlignment(a,ref,read,100); + public void printAlignment(byte[] ref, byte[] read) { + printAlignment(ref,read,100); } - static void printAlignment(SWPairwiseAlignment a, byte[] ref, byte[] read, int width) { + public void printAlignment(byte[] ref, byte[] read, int width) { StringBuilder bread = new StringBuilder(); StringBuilder bref = new StringBuilder(); StringBuilder match = new StringBuilder(); @@ -408,9 +323,9 @@ public class SWPairwiseAlignment { int i = 0; int j = 0; - final int offset = a.getAlignmentStart2wrt1(); + final int offset = getAlignmentStart2wrt1(); - Cigar cigar = a.getCigar(); + Cigar cigar = getCigar(); if ( ! DO_SOFTCLIP ) { @@ -436,7 +351,7 @@ public class SWPairwiseAlignment { } if ( offset > 0 ) { // note: the way this implementation works, cigar will ever start from S *only* if read starts before the ref, i.e. offset = 0 - for ( ; i < a.getAlignmentStart2wrt1() ; i++ ) { + for ( ; i < getAlignmentStart2wrt1() ; i++ ) { bref.append((char)ref[i]); bread.append(' '); match.append(' '); @@ -506,280 +421,5 @@ public class SWPairwiseAlignment { } int end = Math.min(start+width,s.length()); System.out.println(s.substring(start,end)); - } - -// BELOW: main() method for testing; old implementations of the core methods are commented out below; -// uncomment everything through the end of the file if benchmarking of new vs old implementations is needed. - - public static void main(String argv[]) { -// String ref="CACGAGCATATGTGTACATGAATTTGTATTGCACATGTGTTTAATGCGAACACGTGTCATGTGTATGTGTTCACATGCATGTGTGTCT"; -// String read = "GCATATGTTTACATGAATTTGTATTGCACATGTGTTTAATGCGAACACGTGTCATGTGTGTGTTCACATGCATGTG"; - - String ref = null; - String read = null; - - Map> args = processArgs(argv); - - List l = args.get("SEQ"); - args.remove("SEQ"); - if ( l == null ) { - System.err.println("SEQ argument is missing. Two input sequences must be provided"); - System.exit(1); - } - if ( l.size() != 2 ) { - System.err.println("Two input sequences (SEQ arguments) must be provided. Found "+l.size()+" instead"); - System.exit(1); - } - - ref = l.get(0); - read = l.get(1); - - Double m = extractSingleDoubleArg("MATCH",args); - Double mm = extractSingleDoubleArg("MISMATCH",args); - Double open = extractSingleDoubleArg("OPEN",args); - Double ext = extractSingleDoubleArg("EXTEND",args); - - Boolean reverse = extractSingleBooleanArg("REVERSE",args); - if ( reverse != null && reverse.booleanValue() == true ) { - ref = Utils.reverse(ref); - read = Utils.reverse(read); - } - - Boolean print_mat = extractSingleBooleanArg("PRINT_MATRIX",args); - Boolean cut = extractSingleBooleanArg("CUTOFF",args); - if ( cut != null ) SWPairwiseAlignment.cutoff = cut; - - if ( args.size() != 0 ) { - System.err.println("Unknown argument on the command line: "+args.keySet().iterator().next()); - System.exit(1); - } - - double w_match; - double w_mismatch; - double w_open; - double w_extend; - - w_match = (m == null ? 30.0 : m.doubleValue()); - w_mismatch = (mm == null ? -10.0 : mm.doubleValue()); - w_open = (open == null ? -10.0 : open.doubleValue()); - w_extend = (ext == null ? -2.0 : ext.doubleValue()); - - - SWPairwiseAlignment a = new SWPairwiseAlignment(ref.getBytes(),read.getBytes(),w_match,w_mismatch,w_open,w_extend); - - System.out.println("start="+a.getAlignmentStart2wrt1()+", cigar="+a.getCigar()+ - " length1="+ref.length()+" length2="+read.length()); - - - System.out.println(); - printAlignment(a,ref.getBytes(),read.getBytes()); - - System.out.println(); - if ( print_mat != null && print_mat == true ) { - a.print(a.SW,ref.getBytes(),read.getBytes()); - } - } - - - static Pair getArg(String prefix, String argv[], int i) { - String arg = null; - if ( argv[i].startsWith(prefix) ) { - arg = argv[i].substring(prefix.length()); - if( arg.length() == 0 ) { - i++; - if ( i < argv.length ) arg = argv[i]; - else { - System.err.println("No value found after " + prefix + " argument tag"); - System.exit(1); - } - } - i++; - } - return new Pair(arg,i); - } - - static Map> processArgs(String argv[]) { - Map> args = new HashMap>(); - - for ( int i = 0; i < argv.length ; i++ ) { - String arg = argv[i]; - int pos = arg.indexOf('='); - if ( pos < 0 ) { - System.err.println("Argument "+arg+" is not of the form ="); - System.exit(1); - } - String val = arg.substring(pos+1); - if ( val.length() == 0 ) { - // there was a space between '=' and the value - i++; - if ( i < argv.length ) val = argv[i]; - else { - System.err.println("No value found after " + arg + " argument tag"); - System.exit(1); - } - } - arg = arg.substring(0,pos); - - List l = args.get(arg); - if ( l == null ) { - l = new ArrayList(); - args.put(arg,l); - } - l.add(val); - } - return args; - } - - static Double extractSingleDoubleArg(String argname, Map> args) { - List l = args.get(argname); - args.remove(argname); - if ( l == null ) return null; - - if ( l.size() > 1 ) { - System.err.println("Only one "+argname+" argument is allowed"); - System.exit(1); - } - double d=0; - try { - d = Double.parseDouble(l.get(0)); - } catch ( NumberFormatException e) { - System.err.println("Can not parse value provided for "+argname+" argument ("+l.get(0)+")"); - System.exit(1); - } - System.out.println("Argument "+argname+" set to "+d); - return new Double(d); - } - - - static Boolean extractSingleBooleanArg(String argname, Map> args) { - List l = args.get(argname); - args.remove(argname); - if ( l == null ) return null; - - if ( l.size() > 1 ) { - System.err.println("Only one "+argname+" argument is allowed"); - System.exit(1); - } - if ( l.get(0).equals("true") ) return Boolean.valueOf(true); - if ( l.get(0).equals("false") ) return Boolean.valueOf(false); - System.err.println("Can not parse value provided for "+argname+" argument ("+l.get(0)+"); true/false are allowed"); - System.exit(1); - return Boolean.valueOf(false); // This value isn't used because it is preceded by System.exit(1) - } - -/* ############################################## - public SWPairwiseAlignment(byte[] seq1, byte[] seq2, double match, double mismatch, double open, double extend, boolean runOld ) { - w_match = match; - w_mismatch = mismatch; - w_open = open; - w_extend = extend; - if ( runOld ) align_old(seq1,seq2); - else align(seq1,seq2); - } - - public SWPairwiseAlignment(byte[] seq1, byte[] seq2, boolean runOld) { - this(seq1,seq2,1.0,-1.0/3.0,-1.0-1.0/3.0,-1.0/3.0,runOld); // match=1, mismatch = -1/3, gap=-(1+k/3) - } - - public void align_old(final byte[] a, final byte[] b) { - final int n = a.length; - final int m = b.length; - double [] sw = new double[(n+1)*(m+1)]; - int [] btrack = new int[(n+1)*(m+1)]; - calculateMatrix_old(a, b, sw, btrack); - calculateCigar(n, m, sw, btrack); // length of the segment (continuous matches, insertions or deletions) - } - - private void calculateMatrix_old(final byte[] a, final byte[] b, double [] sw, int [] btrack ) { - final int n = a.length+1; - final int m = b.length+1; - - // build smith-waterman matrix and keep backtrack info: - for ( int i = 1, row_offset_1 = 0 ; i < n ; i++ ) { // we do NOT update row_offset_1 here, see comment at the end of this outer loop - byte a_base = a[i-1]; // letter in a at the current pos - - final int row_offset = row_offset_1 + m; - - // On the entrance into the loop, row_offset_1 is the (linear) offset - // of the first element of row (i-1) and row_offset is the linear offset of the - // start of row i - - for ( int j = 1, data_offset_1 = row_offset_1 ; j < m ; j++, data_offset_1++ ) { - - // data_offset_1 is linearized offset of element [i-1][j-1] - - final byte b_base = b[j-1]; // letter in b at the current pos - - // in other words, step_diag = sw[i-1][j-1] + wd(a_base,b_base); - double step_diag = sw[data_offset_1] + wd(a_base,b_base); - int kd = 0; - - double step_down = 0; - - for ( int k = 1, data_offset_k = data_offset_1+1 ; k < i ; k++, data_offset_k -= m ) { - // data_offset_k is linearized offset of element [i-k][j] - // in other words, trial = sw[i-k][j]+gap_penalty: - final double trial = sw[data_offset_k]+wk(k); - if ( step_down < trial ) { - step_down=trial; - kd = k; - } - } - - int ki = 0; - - // optimized "traversal" of all the matrix cells to the left of the current one (i.e. traversing - // all 'step right' events that would end in the current cell. The optimized code - // does exactly the same thing as the commented out loop below. IMPORTANT: - // the optimization works ONLY for linear w(k)=wopen+(k-1)*wextend!!!! - - double step_right = 0; - - for ( int k = 1, data_offset = row_offset+j-1 ; k < j ; k++, data_offset-- ) { - // data_offset is linearized offset of element [i][j-k] - // in other words, step_right=sw[i][j-k]+gap_penalty; - final double trial = sw[data_offset]+wk(k); - if ( step_right < trial ) { - step_right=trial; - ki = k; - } - } - - final int data_offset = row_offset + j; // linearized offset of element [i][j] - - if ( step_down > step_right ) { - if ( step_down > step_diag ) { - sw[data_offset] = Math.max(0,step_down); - btrack[data_offset] = kd ; // positive=vertical - } else { - sw[data_offset] = Math.max(0,step_diag); - btrack[data_offset] = 0; // 0 = diagonal - } - } else { - // step_down <= step_right - if ( step_right > step_diag ) { - sw[data_offset] = Math.max(0,step_right); - btrack[data_offset] = -ki; // negative = horizontal - } else { - sw[data_offset] = Math.max(0,step_diag); - btrack[data_offset] = 0; // 0 = diagonal - } - } - -// sw[data_offset] = Math.max(0, Math.max(step_diag,Math.max(step_down,step_right))); - } - - // IMPORTANT, IMPORTANT, IMPORTANT: - // note that we update this (secondary) outer loop variable here, - // so that we DO NOT need to update it - // in the for() statement itself. - row_offset_1 = row_offset; - } -// print(sw,a,b); - } -##################### -END COMMENTED OUT SECTION -*/ - } diff --git a/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignmentMain.java b/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignmentMain.java new file mode 100644 index 000000000..a49d7e5e6 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/SWPairwiseAlignmentMain.java @@ -0,0 +1,222 @@ +/* + * Copyright (c) 2012 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils; + +import org.broadinstitute.sting.utils.collections.Pair; + +import java.util.ArrayList; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +/** + * Simple program to run SW performance test. + * + * // TODO -- should be replaced with Caliper before using again + * + * User: depristo + * Date: 2/28/13 + * Time: 4:54 PM + * To change this template use File | Settings | File Templates. + */ +public class SWPairwiseAlignmentMain { + // BELOW: main() method for testing; old implementations of the core methods are commented out below; +// uncomment everything through the end of the file if benchmarking of new vs old implementations is needed. + + public static void main(String argv[]) { +// String ref="CACGAGCATATGTGTACATGAATTTGTATTGCACATGTGTTTAATGCGAACACGTGTCATGTGTATGTGTTCACATGCATGTGTGTCT"; +// String read = "GCATATGTTTACATGAATTTGTATTGCACATGTGTTTAATGCGAACACGTGTCATGTGTGTGTTCACATGCATGTG"; + + String ref = null; + String read = null; + + Map> args = processArgs(argv); + + List l = args.get("SEQ"); + args.remove("SEQ"); + if ( l == null ) { + System.err.println("SEQ argument is missing. Two input sequences must be provided"); + System.exit(1); + } + if ( l.size() != 2 ) { + System.err.println("Two input sequences (SEQ arguments) must be provided. Found "+l.size()+" instead"); + System.exit(1); + } + + ref = l.get(0); + read = l.get(1); + + Double m = extractSingleDoubleArg("MATCH",args); + Double mm = extractSingleDoubleArg("MISMATCH",args); + Double open = extractSingleDoubleArg("OPEN",args); + Double ext = extractSingleDoubleArg("EXTEND",args); + + Boolean reverse = extractSingleBooleanArg("REVERSE",args); + if ( reverse != null && reverse.booleanValue() == true ) { + ref = Utils.reverse(ref); + read = Utils.reverse(read); + } + + Boolean print_mat = extractSingleBooleanArg("PRINT_MATRIX",args); + Boolean cut = extractSingleBooleanArg("CUTOFF",args); + if ( cut != null ) SWPairwiseAlignment.cutoff = cut; + + if ( args.size() != 0 ) { + System.err.println("Unknown argument on the command line: "+args.keySet().iterator().next()); + System.exit(1); + } + + double w_match; + double w_mismatch; + double w_open; + double w_extend; + + w_match = (m == null ? 30.0 : m.doubleValue()); + w_mismatch = (mm == null ? -10.0 : mm.doubleValue()); + w_open = (open == null ? -10.0 : open.doubleValue()); + w_extend = (ext == null ? -2.0 : ext.doubleValue()); + + + SWPairwiseAlignment a = new SWPairwiseAlignment(ref.getBytes(),read.getBytes(),w_match,w_mismatch,w_open,w_extend); + + System.out.println("start="+a.getAlignmentStart2wrt1()+", cigar="+a.getCigar()+ + " length1="+ref.length()+" length2="+read.length()); + + + System.out.println(); + a.printAlignment(ref.getBytes(),read.getBytes()); + + System.out.println(); + if ( print_mat != null && print_mat == true ) { + print(a.SW,ref.getBytes(),read.getBytes()); + } + } + + private static void print(double[] s, byte[] a, byte[] b) { + int n = a.length+1; + int m = b.length+1; + System.out.print(" "); + for ( int j = 1 ; j < m ; j++) System.out.printf(" %5c",(char)b[j-1]) ; + System.out.println(); + + for ( int i = 0, row_offset = 0 ; i < n ; i++, row_offset+=m) { + if ( i > 0 ) System.out.print((char)a[i-1]); + else System.out.print(' '); + System.out.print(" "); + for ( int j = 0; j < m ; j++ ) { + System.out.printf(" %5.1f",s[row_offset+j]); + } + System.out.println(); + } + } + + + static Pair getArg(String prefix, String argv[], int i) { + String arg = null; + if ( argv[i].startsWith(prefix) ) { + arg = argv[i].substring(prefix.length()); + if( arg.length() == 0 ) { + i++; + if ( i < argv.length ) arg = argv[i]; + else { + System.err.println("No value found after " + prefix + " argument tag"); + System.exit(1); + } + } + i++; + } + return new Pair(arg,i); + } + + static Map> processArgs(String argv[]) { + Map> args = new HashMap>(); + + for ( int i = 0; i < argv.length ; i++ ) { + String arg = argv[i]; + int pos = arg.indexOf('='); + if ( pos < 0 ) { + System.err.println("Argument "+arg+" is not of the form ="); + System.exit(1); + } + String val = arg.substring(pos+1); + if ( val.length() == 0 ) { + // there was a space between '=' and the value + i++; + if ( i < argv.length ) val = argv[i]; + else { + System.err.println("No value found after " + arg + " argument tag"); + System.exit(1); + } + } + arg = arg.substring(0,pos); + + List l = args.get(arg); + if ( l == null ) { + l = new ArrayList(); + args.put(arg,l); + } + l.add(val); + } + return args; + } + + static Double extractSingleDoubleArg(String argname, Map> args) { + List l = args.get(argname); + args.remove(argname); + if ( l == null ) return null; + + if ( l.size() > 1 ) { + System.err.println("Only one "+argname+" argument is allowed"); + System.exit(1); + } + double d=0; + try { + d = Double.parseDouble(l.get(0)); + } catch ( NumberFormatException e) { + System.err.println("Can not parse value provided for "+argname+" argument ("+l.get(0)+")"); + System.exit(1); + } + System.out.println("Argument "+argname+" set to "+d); + return new Double(d); + } + + + static Boolean extractSingleBooleanArg(String argname, Map> args) { + List l = args.get(argname); + args.remove(argname); + if ( l == null ) return null; + + if ( l.size() > 1 ) { + System.err.println("Only one "+argname+" argument is allowed"); + System.exit(1); + } + if ( l.get(0).equals("true") ) return Boolean.valueOf(true); + if ( l.get(0).equals("false") ) return Boolean.valueOf(false); + System.err.println("Can not parse value provided for "+argname+" argument ("+l.get(0)+"); true/false are allowed"); + System.exit(1); + return Boolean.valueOf(false); // This value isn't used because it is preceded by System.exit(1) + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java b/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java index 2c897407a..5e834d273 100644 --- a/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/SequenceDictionaryUtils.java @@ -53,40 +53,55 @@ public class SequenceDictionaryUtils { // // for detecting lexicographically sorted human references // - - private static boolean ENABLE_LEXICOGRAPHIC_REQUIREMENT_FOR_HUMAN = true; + private static final boolean ENABLE_LEXICOGRAPHIC_REQUIREMENT_FOR_HUMAN = true; // hg18 - private static SAMSequenceRecord CHR1_HG18 = new SAMSequenceRecord("chr1", 247249719); - private static SAMSequenceRecord CHR2_HG18 = new SAMSequenceRecord("chr2", 242951149); - private static SAMSequenceRecord CHR10_HG18 = new SAMSequenceRecord("chr10", 135374737); + protected static final SAMSequenceRecord CHR1_HG18 = new SAMSequenceRecord("chr1", 247249719); + protected static final SAMSequenceRecord CHR2_HG18 = new SAMSequenceRecord("chr2", 242951149); + protected static final SAMSequenceRecord CHR10_HG18 = new SAMSequenceRecord("chr10", 135374737); // hg19 - private static SAMSequenceRecord CHR1_HG19 = new SAMSequenceRecord("chr1", 249250621); - private static SAMSequenceRecord CHR2_HG19 = new SAMSequenceRecord("chr2", 243199373); - private static SAMSequenceRecord CHR10_HG19 = new SAMSequenceRecord("chr10", 135534747); + protected static final SAMSequenceRecord CHR1_HG19 = new SAMSequenceRecord("chr1", 249250621); + protected static final SAMSequenceRecord CHR2_HG19 = new SAMSequenceRecord("chr2", 243199373); + protected static final SAMSequenceRecord CHR10_HG19 = new SAMSequenceRecord("chr10", 135534747); + + // b36 + protected static final SAMSequenceRecord CHR1_B36 = new SAMSequenceRecord("1", 247249719); + protected static final SAMSequenceRecord CHR2_B36 = new SAMSequenceRecord("2", 242951149); + protected static final SAMSequenceRecord CHR10_B36 = new SAMSequenceRecord("10", 135374737); + + // b37 + protected static final SAMSequenceRecord CHR1_B37 = new SAMSequenceRecord("1", 249250621); + protected static final SAMSequenceRecord CHR2_B37 = new SAMSequenceRecord("2", 243199373); + protected static final SAMSequenceRecord CHR10_B37 = new SAMSequenceRecord("10", 135534747); + public enum SequenceDictionaryCompatibility { IDENTICAL, // the dictionaries are identical COMMON_SUBSET, // there exists a common subset of equivalent contigs NO_COMMON_CONTIGS, // no overlap between dictionaries - UNEQUAL_COMMON_CONTIGS, // common subset has contigs that have the same name but aren't equivalent + UNEQUAL_COMMON_CONTIGS, // common subset has contigs that have the same name but different lengths NON_CANONICAL_HUMAN_ORDER, // human reference detected but the order of the contigs is non-standard (lexicographic, for examine) - OUT_OF_ORDER // the two dictionaries overlap but the contigs occur out of order w.r.t each other + OUT_OF_ORDER, // the two dictionaries overlap but the overlapping contigs occur in different + // orders with respect to each other + DIFFERENT_INDICES // the two dictionaries overlap and the overlapping contigs occur in the same + // order with respect to each other, but one or more of them have different + // indices in the two dictionaries. Eg., { chrM, chr1, chr2 } vs. { chr1, chr2 } } /** * @param validationExclusion exclusions to validation * @return Returns true if the engine is in tolerant mode and we'll let through dangerous but not fatal dictionary inconsistency */ - public static boolean allowNonFatalIncompabilities(ValidationExclusion.TYPE validationExclusion) { + private static boolean allowNonFatalIncompabilities(ValidationExclusion.TYPE validationExclusion) { return ( validationExclusion == ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY || validationExclusion == ValidationExclusion.TYPE.ALL ); } /** - * Testings for compatbility between dict1 and dict2. If the dictionaries are incompatible, then UserExceptions are - * thrown with detailed error messages. If the engine is in permissive mode, then logger.warnings of generated instead + * Tests for compatibility between two sequence dictionaries. If the dictionaries are incompatible, then + * UserExceptions are thrown with detailed error messages. If the engine is in permissive mode, then + * logger warnings are generated instead. * * @param logger for warnings * @param validationExclusion exclusions to validation @@ -94,9 +109,22 @@ public class SequenceDictionaryUtils { * @param dict1 the sequence dictionary dict1 * @param name2 name associated with dict2 * @param dict2 the sequence dictionary dict2 + * @param isReadsToReferenceComparison true if one of the dictionaries comes from a reads data source (eg., a BAM), + * and the other from a reference data source + * @param intervals the user-specified genomic intervals: only required when isReadsToReferenceComparison is true, + * otherwise can be null */ - public static void validateDictionaries(Logger logger, ValidationExclusion.TYPE validationExclusion, String name1, SAMSequenceDictionary dict1, String name2, SAMSequenceDictionary dict2) { - SequenceDictionaryCompatibility type = compareDictionaries(dict1, dict2); + public static void validateDictionaries( final Logger logger, + final ValidationExclusion.TYPE validationExclusion, + final String name1, + final SAMSequenceDictionary dict1, + final String name2, + final SAMSequenceDictionary dict2, + final boolean isReadsToReferenceComparison, + final GenomeLocSortedSet intervals ) { + + final SequenceDictionaryCompatibility type = compareDictionaries(dict1, dict2); + switch ( type ) { case IDENTICAL: return; @@ -134,15 +162,48 @@ public class SequenceDictionaryUtils { logger.warn(ex.getMessage()); else throw ex; + break; } case OUT_OF_ORDER: { - UserException ex = new UserException.IncompatibleSequenceDictionaries("Order of contigs differences, which is unsafe", name1, dict1, name2, dict2); + UserException ex = new UserException.IncompatibleSequenceDictionaries("Relative ordering of overlapping contigs differs, which is unsafe", name1, dict1, name2, dict2); if ( allowNonFatalIncompabilities(validationExclusion) ) logger.warn(ex.getMessage()); else throw ex; - } break; + break; + } + + case DIFFERENT_INDICES: { + // This is currently only known to be problematic when the index mismatch is between a bam and the + // reference AND when the user's intervals actually include one or more of the contigs that are + // indexed differently from the reference. In this case, the engine will fail to correctly serve + // up the reads from those contigs, so throw an exception unless unsafe operations are enabled. + if ( isReadsToReferenceComparison && intervals != null ) { + + final Set misindexedContigs = findMisindexedContigsInIntervals(intervals, dict1, dict2); + + if ( ! misindexedContigs.isEmpty() ) { + final String msg = String.format("The following contigs included in the intervals to process have " + + "different indices in the sequence dictionaries for the reads vs. " + + "the reference: %s. As a result, the GATK engine will not correctly " + + "process reads from these contigs. You should either fix the sequence " + + "dictionaries for your reads so that these contigs have the same indices " + + "as in the sequence dictionary for your reference, or exclude these contigs " + + "from your intervals. This error can be disabled via -U %s, " + + "however this is not recommended as the GATK engine will not behave correctly.", + misindexedContigs, ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY); + final UserException ex = new UserException.IncompatibleSequenceDictionaries(msg, name1, dict1, name2, dict2); + + if ( allowNonFatalIncompabilities(validationExclusion) ) + logger.warn(ex.getMessage()); + else + throw ex; + } + } + break; + } + default: throw new ReviewedStingException("Unexpected SequenceDictionaryComparison type: " + type); } @@ -151,32 +212,33 @@ public class SequenceDictionaryUtils { /** * Workhorse routine that takes two dictionaries and returns their compatibility. * - * @param dict1 - * @param dict2 - * @return + * @param dict1 first sequence dictionary + * @param dict2 second sequence dictionary + * @return A SequenceDictionaryCompatibility enum value describing the compatibility of the two dictionaries */ - public static SequenceDictionaryCompatibility compareDictionaries(SAMSequenceDictionary dict1, SAMSequenceDictionary dict2) { - // If there's no overlap between reads and reference, data will be bogus. Throw an exception. - if ( nonCanonicalHumanContigOrder( dict1 ) || nonCanonicalHumanContigOrder(dict2) ) + public static SequenceDictionaryCompatibility compareDictionaries( final SAMSequenceDictionary dict1, final SAMSequenceDictionary dict2) { + if ( nonCanonicalHumanContigOrder(dict1) || nonCanonicalHumanContigOrder(dict2) ) return SequenceDictionaryCompatibility.NON_CANONICAL_HUMAN_ORDER; - Set commonContigs = getCommonContigsByName(dict1, dict2); + final Set commonContigs = getCommonContigsByName(dict1, dict2); if (commonContigs.size() == 0) return SequenceDictionaryCompatibility.NO_COMMON_CONTIGS; - else if ( ! commonContigsAreEquivalent( commonContigs, dict1, dict2 ) ) + else if ( ! commonContigsHaveSameLengths(commonContigs, dict1, dict2) ) return SequenceDictionaryCompatibility.UNEQUAL_COMMON_CONTIGS; - else if ( ! commonContigsAreInOrder( commonContigs, dict1, dict2 ) ) + else if ( ! commonContigsAreInSameRelativeOrder(commonContigs, dict1, dict2) ) return SequenceDictionaryCompatibility.OUT_OF_ORDER; else if ( commonContigs.size() == dict1.size() && commonContigs.size() == dict2.size() ) return SequenceDictionaryCompatibility.IDENTICAL; + else if ( ! commonContigsAreAtSameIndices(commonContigs, dict1, dict2) ) + return SequenceDictionaryCompatibility.DIFFERENT_INDICES; else { return SequenceDictionaryCompatibility.COMMON_SUBSET; } } /** - * Utility function that tests whether the commonContigs in both dicts are equivalent. Equivalece means + * Utility function that tests whether the commonContigs in both dicts are equivalent. Equivalence means * that the seq records have the same length, if both are non-zero. * * @param commonContigs @@ -184,7 +246,7 @@ public class SequenceDictionaryUtils { * @param dict2 * @return true if all of the common contigs are equivalent */ - private static boolean commonContigsAreEquivalent(Set commonContigs, SAMSequenceDictionary dict1, SAMSequenceDictionary dict2) { + private static boolean commonContigsHaveSameLengths(Set commonContigs, SAMSequenceDictionary dict1, SAMSequenceDictionary dict2) { return findDisequalCommonContigs(commonContigs, dict1, dict2) == null; } @@ -201,7 +263,7 @@ public class SequenceDictionaryUtils { for ( String name : commonContigs ) { SAMSequenceRecord elt1 = dict1.getSequence(name); SAMSequenceRecord elt2 = dict2.getSequence(name); - if ( ! SequenceRecordsAreEquivalent(elt1, elt2) ) + if ( ! sequenceRecordsAreEquivalent(elt1, elt2) ) return Arrays.asList(elt1,elt2); } @@ -216,12 +278,10 @@ public class SequenceDictionaryUtils { * @param that * @return */ - private static boolean SequenceRecordsAreEquivalent(final SAMSequenceRecord me, final SAMSequenceRecord that) { + private static boolean sequenceRecordsAreEquivalent(final SAMSequenceRecord me, final SAMSequenceRecord that) { if (me == that) return true; if (that == null) return false; - // I don't care if the indices are difference - //if (me.getSequenceIndex() != that.getSequenceIndex()) return false; if (me.getSequenceLength() != 0 && that.getSequenceLength() != 0 && me.getSequenceLength() != that.getSequenceLength()) return false; @@ -280,18 +340,18 @@ public class SequenceDictionaryUtils { return elt.getSequenceLength() == rec1.getSequenceLength() || elt.getSequenceLength() == rec2.getSequenceLength(); } - /** - * Returns true if the common contigs in dict1 and dict2 are in the same order. This is accomplished by getting the - * common contigs in both dictionaries, sorting these according to their indices, and the walking through - * the sorted list to ensure that each ordered contig is equivalent + * Returns true if the common contigs in dict1 and dict2 are in the same relative order, without regard to + * absolute index position. This is accomplished by getting the common contigs in both dictionaries, sorting + * these according to their indices, and then walking through the sorted list to ensure that each ordered contig + * is equivalent * - * @param commonContigs - * @param dict1 - * @param dict2 - * @return + * @param commonContigs names of the contigs common to both dictionaries + * @param dict1 first SAMSequenceDictionary + * @param dict2 second SAMSequenceDictionary + * @return true if the common contigs occur in the same relative order in both dict1 and dict2, otherwise false */ - public static boolean commonContigsAreInOrder(Set commonContigs, SAMSequenceDictionary dict1, SAMSequenceDictionary dict2) { + private static boolean commonContigsAreInSameRelativeOrder(Set commonContigs, SAMSequenceDictionary dict1, SAMSequenceDictionary dict2) { List list1 = sortSequenceListByIndex(getSequencesOfName(commonContigs, dict1)); List list2 = sortSequenceListByIndex(getSequencesOfName(commonContigs, dict2)); @@ -321,10 +381,6 @@ public class SequenceDictionaryUtils { return l; } - // -------------------------------------------------------------------------------------------------------------- - // Utilities for comparing the order of sequence records - // -------------------------------------------------------------------------------------------------------------- - /** * Compares sequence records by their order */ @@ -346,6 +402,81 @@ public class SequenceDictionaryUtils { return unsorted; } + /** + * Checks whether the common contigs in the given sequence dictionaries occur at the same indices + * in both dictionaries + * + * @param commonContigs Set of names of the contigs that occur in both dictionaries + * @param dict1 first sequence dictionary + * @param dict2 second sequence dictionary + * @return true if the contigs common to dict1 and dict2 occur at the same indices in both dictionaries, + * otherwise false + */ + private static boolean commonContigsAreAtSameIndices( final Set commonContigs, final SAMSequenceDictionary dict1, final SAMSequenceDictionary dict2 ) { + for ( String commonContig : commonContigs ) { + SAMSequenceRecord dict1Record = dict1.getSequence(commonContig); + SAMSequenceRecord dict2Record = dict2.getSequence(commonContig); + + // Each common contig must have the same index in both dictionaries + if ( dict1Record.getSequenceIndex() != dict2Record.getSequenceIndex() ) { + return false; + } + } + + return true; + } + + /** + * Gets the set of names of the contigs found in both sequence dictionaries that have different indices + * in the two dictionaries. + * + * @param commonContigs Set of names of the contigs common to both dictionaries + * @param dict1 first sequence dictionary + * @param dict2 second sequence dictionary + * @return a Set containing the names of the common contigs indexed differently in dict1 vs. dict2, + * or an empty Set if there are no such contigs + */ + private static Set getDifferentlyIndexedCommonContigs( final Set commonContigs, + final SAMSequenceDictionary dict1, + final SAMSequenceDictionary dict2 ) { + + final Set differentlyIndexedCommonContigs = new LinkedHashSet(Utils.optimumHashSize(commonContigs.size())); + + for ( String commonContig : commonContigs ) { + if ( dict1.getSequence(commonContig).getSequenceIndex() != dict2.getSequence(commonContig).getSequenceIndex() ) { + differentlyIndexedCommonContigs.add(commonContig); + } + } + + return differentlyIndexedCommonContigs; + } + + /** + * Finds the names of any contigs indexed differently in the two sequence dictionaries that also + * occur in the provided set of intervals. + * + * @param intervals GenomeLocSortedSet containing the intervals to check + * @param dict1 first sequence dictionary + * @param dict2 second sequence dictionary + * @return a Set of the names of the contigs indexed differently in dict1 vs dict2 that also + * occur in the provided intervals, or an empty Set if there are no such contigs + */ + private static Set findMisindexedContigsInIntervals( final GenomeLocSortedSet intervals, + final SAMSequenceDictionary dict1, + final SAMSequenceDictionary dict2 ) { + + final Set differentlyIndexedCommonContigs = getDifferentlyIndexedCommonContigs(getCommonContigsByName(dict1, dict2), dict1, dict2); + final Set misindexedContigsInIntervals = new LinkedHashSet(Utils.optimumHashSize(differentlyIndexedCommonContigs.size())); + + // We know differentlyIndexedCommonContigs is a HashSet, so this loop is O(intervals) + for ( GenomeLoc interval : intervals ) { + if ( differentlyIndexedCommonContigs.contains(interval.getContig()) ) { + misindexedContigsInIntervals.add(interval.getContig()); + } + } + + return misindexedContigsInIntervals; + } /** * Returns the set of contig names found in both dicts. @@ -360,9 +491,37 @@ public class SequenceDictionaryUtils { } public static Set getContigNames(SAMSequenceDictionary dict) { - Set contigNames = new HashSet((int)(dict.size() / 0.75f) + 1, 0.75f); + Set contigNames = new HashSet(Utils.optimumHashSize(dict.size())); for (SAMSequenceRecord dictionaryEntry : dict.getSequences()) contigNames.add(dictionaryEntry.getSequenceName()); return contigNames; } + + /** + * Returns a compact String representation of the sequence dictionary it's passed + * + * The format of the returned String is: + * [ contig1Name(length: contig1Length) contig2Name(length: contig2Length) ... ] + * + * @param dict a non-null SAMSequenceDictionary + * @return A String containing all of the contig names and lengths from the sequence dictionary it's passed + */ + public static String getDictionaryAsString( final SAMSequenceDictionary dict ) { + if ( dict == null ) { + throw new IllegalArgumentException("Sequence dictionary must be non-null"); + } + + StringBuilder s = new StringBuilder("[ "); + + for ( SAMSequenceRecord dictionaryEntry : dict.getSequences() ) { + s.append(dictionaryEntry.getSequenceName()); + s.append("(length:"); + s.append(dictionaryEntry.getSequenceLength()); + s.append(") "); + } + + s.append("]"); + + return s.toString(); + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/Utils.java b/public/java/src/org/broadinstitute/sting/utils/Utils.java index 77f3a84c3..45a2fa58d 100644 --- a/public/java/src/org/broadinstitute/sting/utils/Utils.java +++ b/public/java/src/org/broadinstitute/sting/utils/Utils.java @@ -54,6 +54,17 @@ public class Utils { public static final float JAVA_DEFAULT_HASH_LOAD_FACTOR = 0.75f; + /** + * Boolean xor operation. Only true if x != y. + * + * @param x a boolean + * @param y a boolean + * @return true if x != y + */ + public static boolean xor(final boolean x, final boolean y) { + return x != y; + } + /** * Calculates the optimum initial size for a hash table given the maximum number * of elements it will need to hold. The optimum size is the smallest size that @@ -308,6 +319,22 @@ public class Utils { return join(separator, Arrays.asList(objects)); } + /** + * Create a new string thats a n duplicate copies of s + * @param s the string to duplicate + * @param nCopies how many copies? + * @return a string + */ + public static String dupString(final String s, int nCopies) { + if ( s == null || s.equals("") ) throw new IllegalArgumentException("Bad s " + s); + if ( nCopies < 1 ) throw new IllegalArgumentException("nCopies must be >= 1 but got " + nCopies); + + final StringBuilder b = new StringBuilder(); + for ( int i = 0; i < nCopies; i++ ) + b.append(s); + return b.toString(); + } + public static String dupString(char c, int nCopies) { char[] chars = new char[nCopies]; Arrays.fill(chars, c); diff --git a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java index dd6735d89..b38d6575e 100644 --- a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java +++ b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java @@ -30,15 +30,13 @@ import com.google.java.contract.Invariant; import net.sf.picard.reference.IndexedFastaSequenceFile; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.GenomeLocSortedSet; import org.broadinstitute.sting.utils.HasGenomeLocation; import org.broadinstitute.sting.utils.clipping.ReadClipper; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; -import java.util.ArrayList; -import java.util.Collection; -import java.util.Collections; -import java.util.List; +import java.util.*; /** * Represents a single active region created by the Active Region Traversal for processing @@ -348,19 +346,6 @@ public class ActiveRegion implements HasGenomeLocation { } } - /** - * Clips all of the reads in this active region so that none extend beyond the active region extended loc - * - * This function may change the getReadSpanLoc, as it updates the read span based on the new clipped - * read coordinates. - */ - public void hardClipToActiveRegion() { - final List clippedReads = ReadClipper.hardClipToRegion( reads, extendedLoc.getStart(), extendedLoc.getStop() ); - ReadUtils.sortReadsByCoordinate(clippedReads); - clearReads(); - addAll(clippedReads); - } - /** * Is this region equal to other, excluding any reads in either region in the comparison * @param other the other active region we want to test @@ -382,4 +367,30 @@ public class ActiveRegion implements HasGenomeLocation { public boolean isActive() { return isActive; } + + /** + * Intersect this active region with the allowed intervals, returning a list of active regions + * that only contain locations present in intervals + * + * Note that the returned list may be empty, if this active region doesn't overlap the set at all + * + * @param intervals a non-null set of intervals that are allowed + * @return an ordered list of active region where each interval is contained within intervals + */ + @Ensures("result != null") + protected List splitAndTrimToIntervals(final GenomeLocSortedSet intervals) { + final List allOverlapping = intervals.getOverlapping(getLocation()); + final List clippedRegions = new LinkedList(); + + for ( final GenomeLoc overlapping : allOverlapping ) { + final GenomeLoc subLoc = getLocation().intersect(overlapping); + final int subStart = subLoc.getStart() - getLocation().getStart(); + final int subEnd = subStart + subLoc.size(); + final List subStates = supportingStates.isEmpty() ? supportingStates : supportingStates.subList(subStart, subEnd); + final ActiveRegion clipped = new ActiveRegion( subLoc, subStates, isActive, genomeLocParser, extension ); + clippedRegions.add(clipped); + } + + return clippedRegions; + } } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java index ff4673717..25948a857 100644 --- a/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java +++ b/public/java/src/org/broadinstitute/sting/utils/activeregion/ActivityProfile.java @@ -29,6 +29,7 @@ import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.GenomeLocSortedSet; import java.util.*; @@ -45,6 +46,7 @@ public class ActivityProfile { protected final List stateList; protected final GenomeLocParser parser; + protected final GenomeLocSortedSet restrictToIntervals; protected GenomeLoc regionStartLoc = null; protected GenomeLoc regionStopLoc = null; @@ -60,10 +62,20 @@ public class ActivityProfile { * @param parser the parser we can use to create genome locs, cannot be null */ public ActivityProfile(final GenomeLocParser parser) { + this(parser, null); + } + + /** + * Create a empty ActivityProfile, restricting output to profiles overlapping intervals, if not null + * @param parser the parser we can use to create genome locs, cannot be null + * @param intervals only include states that are within these intervals, if not null + */ + public ActivityProfile(final GenomeLocParser parser, final GenomeLocSortedSet intervals) { if ( parser == null ) throw new IllegalArgumentException("parser cannot be null"); this.parser = parser; this.stateList = new ArrayList(); + this.restrictToIntervals = intervals; } @Override @@ -224,7 +236,7 @@ public class ActivityProfile { if ( position > size() ) // should we allow this? probably not - throw new IllegalArgumentException("Must add state contiguous to existing states"); + throw new IllegalArgumentException("Must add state contiguous to existing states: adding " + stateToAdd); if ( position >= 0 ) { // ignore states starting before this regions start @@ -313,7 +325,10 @@ public class ActivityProfile { if ( nextRegion == null ) return regions; else { - regions.add(nextRegion); + if ( restrictToIntervals == null ) + regions.add(nextRegion); + else + regions.addAll(nextRegion.splitAndTrimToIntervals(restrictToIntervals)); } } } diff --git a/public/java/src/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfile.java b/public/java/src/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfile.java index abbc74df4..f2bc86dfc 100644 --- a/public/java/src/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfile.java +++ b/public/java/src/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfile.java @@ -28,6 +28,7 @@ package org.broadinstitute.sting.utils.activeregion; import com.google.java.contract.Ensures; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.GenomeLocSortedSet; import org.broadinstitute.sting.utils.MathUtils; import java.util.ArrayList; @@ -53,25 +54,34 @@ public class BandPassActivityProfile extends ActivityProfile { private final double[] GaussianKernel; /** - * Create a new BandPassActivityProfile with default sigma and file sizes - * @param parser our genome loc parser + * Create a new BandPassActivityProfile with default sigma and filter sizes + * + * @see #BandPassActivityProfile(org.broadinstitute.sting.utils.GenomeLocParser, org.broadinstitute.sting.utils.GenomeLocSortedSet, int, double, boolean) */ - public BandPassActivityProfile(final GenomeLocParser parser) { - this(parser, MAX_FILTER_SIZE, DEFAULT_SIGMA, true); + public BandPassActivityProfile(final GenomeLocParser parser, final GenomeLocSortedSet restrictToIntervals) { + this(parser, restrictToIntervals, MAX_FILTER_SIZE, DEFAULT_SIGMA, true); + } + + /** + * @see #BandPassActivityProfile(org.broadinstitute.sting.utils.GenomeLocParser, org.broadinstitute.sting.utils.GenomeLocSortedSet, int, double, boolean) + * + * sets adaptiveFilterSize to true + */ + public BandPassActivityProfile(final GenomeLocParser parser, final GenomeLocSortedSet restrictToIntervals, final int maxFilterSize, final double sigma) { + this(parser, restrictToIntervals, maxFilterSize, sigma, true); } /** * Create an activity profile that implements a band pass filter on the states + * * @param parser our genome loc parser + * @param restrictToIntervals only include states that are within these intervals, if not null * @param maxFilterSize the maximum size of the band pass filter we are allowed to create, regardless of sigma * @param sigma the variance of the Gaussian kernel for this band pass filter + * @param adaptiveFilterSize if true, use the kernel itself to determine the best filter size */ - public BandPassActivityProfile(final GenomeLocParser parser, final int maxFilterSize, final double sigma) { - this(parser, maxFilterSize, sigma, true); - } - - public BandPassActivityProfile(final GenomeLocParser parser, final int maxFilterSize, final double sigma, final boolean adaptiveFilterSize) { - super(parser); + public BandPassActivityProfile(final GenomeLocParser parser, final GenomeLocSortedSet restrictToIntervals, final int maxFilterSize, final double sigma, final boolean adaptiveFilterSize) { + super(parser, restrictToIntervals); if ( sigma < 0 ) throw new IllegalArgumentException("Sigma must be greater than or equal to 0 but got " + sigma); diff --git a/public/java/src/org/broadinstitute/sting/utils/classloader/PluginManager.java b/public/java/src/org/broadinstitute/sting/utils/classloader/PluginManager.java index 410f1ccb2..38bd9bdcc 100644 --- a/public/java/src/org/broadinstitute/sting/utils/classloader/PluginManager.java +++ b/public/java/src/org/broadinstitute/sting/utils/classloader/PluginManager.java @@ -25,6 +25,8 @@ package org.broadinstitute.sting.utils.classloader; +import org.apache.log4j.Level; +import org.apache.log4j.Logger; import org.broadinstitute.sting.gatk.WalkerManager; import org.broadinstitute.sting.gatk.filters.FilterManager; import org.broadinstitute.sting.utils.exceptions.DynamicClassResolutionException; @@ -299,11 +301,14 @@ public class PluginManager { * @return The plugin object if created; null otherwise. */ public PluginType createByType(Class pluginType) { + Logger logger = Logger.getLogger(PluginManager.class); + logger.setLevel(Level.ERROR); try { Constructor noArgsConstructor = pluginType.getDeclaredConstructor((Class[])null); noArgsConstructor.setAccessible(true); return noArgsConstructor.newInstance(); } catch (Exception e) { + logger.error("Couldn't initialize the plugin. Typically this is because of wrong global class variable initializations."); throw new DynamicClassResolutionException(pluginType, e); } } diff --git a/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java b/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java index 45dd55af7..eaefa3aba 100644 --- a/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java +++ b/public/java/src/org/broadinstitute/sting/utils/clipping/ReadClipper.java @@ -28,8 +28,8 @@ package org.broadinstitute.sting.utils.clipping; import com.google.java.contract.Requires; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; -import org.broadinstitute.sting.utils.recalibration.EventType; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.recalibration.EventType; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -534,7 +534,7 @@ public class ReadClipper { throw new ReviewedStingException("Trying to clip before the start or after the end of a read"); if ( start > stop ) - throw new ReviewedStingException(String.format("START (%d) > (%d) STOP -- this should never happen -- call Mauricio!", start, stop)); + throw new ReviewedStingException(String.format("START (%d) > (%d) STOP -- this should never happen, please check read: %s (CIGAR: %s)", start, stop, read, read.getCigarString())); if ( start > 0 && stop < read.getReadLength() - 1) throw new ReviewedStingException(String.format("Trying to clip the middle of the read: start %d, stop %d, cigar: %s", start, stop, read.getCigarString())); diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFInfoHeaderLine.java b/public/java/src/org/broadinstitute/sting/utils/collections/DefaultHashMap.java similarity index 57% rename from public/java/src/org/broadinstitute/variant/vcf/VCFInfoHeaderLine.java rename to public/java/src/org/broadinstitute/sting/utils/collections/DefaultHashMap.java index 8ecf52278..b3a9760a4 100644 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFInfoHeaderLine.java +++ b/public/java/src/org/broadinstitute/sting/utils/collections/DefaultHashMap.java @@ -23,32 +23,34 @@ * THE USE OR OTHER DEALINGS IN THE SOFTWARE. */ -package org.broadinstitute.variant.vcf; +package org.broadinstitute.sting.utils.collections; +import java.util.HashMap; /** - * @author ebanks - *

    - * Class VCFInfoHeaderLine - *

    - * A class representing a key=value entry for INFO fields in the VCF header + * Created with IntelliJ IDEA. + * User: farjoun + * Date: 10/30/12 + * Time: 3:20 PM + * To change this template use File | Settings | File Templates. */ -public class VCFInfoHeaderLine extends VCFCompoundHeaderLine { - public VCFInfoHeaderLine(String name, int count, VCFHeaderLineType type, String description) { - super(name, count, type, description, SupportedHeaderLineType.INFO); - } - public VCFInfoHeaderLine(String name, VCFHeaderLineCount count, VCFHeaderLineType type, String description) { - super(name, count, type, description, SupportedHeaderLineType.INFO); - } +//lifted from http://stackoverflow.com/questions/7519339 +//could also use org.apache.commons.collections.map.DefaultedMap http://commons.apache.org/collections/apidocs/org/apache/commons/collections/map/DefaultedMap.html +public class DefaultHashMap extends HashMap { - public VCFInfoHeaderLine(String line, VCFHeaderVersion version) { - super(line, version, SupportedHeaderLineType.INFO); + public void setDefaultValue(V defaultValue) { + this.defaultValue = defaultValue; + } + protected V defaultValue; + public DefaultHashMap(V defaultValue) { + this.defaultValue = defaultValue; } - - // info fields allow flag values @Override - boolean allowFlagValues() { - return true; + public V get(Object k) { + V v = super.get(k); + return ((v == null) && !this.containsKey(k)) ? this.defaultValue : v; } + } + diff --git a/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java b/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java deleted file mode 100644 index 9f330f226..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/collections/NestedHashMap.java +++ /dev/null @@ -1,132 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.sting.utils.collections; - -import java.util.ArrayList; -import java.util.HashMap; -import java.util.List; -import java.util.Map; - -/** - * Created by IntelliJ IDEA. - * User: rpoplin - * Date: Dec 29, 2009 - */ - -public class NestedHashMap { - - public final Map data = new HashMap(); - - public Object get( final Object... keys ) { - Map map = this.data; - final int nestedMaps = keys.length - 1; - for( int iii = 0; iii < nestedMaps; iii++ ) { - map = (Map) map.get(keys[iii]); - if( map == null ) { return null; } - } - return map.get(keys[nestedMaps]); - } - - public synchronized void put( final Object value, final Object... keys ) { // WARNING! value comes before the keys! - this.put(value, false, keys ); - } - - public synchronized Object put( final Object value, boolean keepOldBindingIfPresent, final Object... keys ) { - Map map = this.data; - final int keysLength = keys.length; - for( int iii = 0; iii < keysLength; iii++ ) { - if( iii == keysLength - 1 ) { - if ( keepOldBindingIfPresent && map.containsKey(keys[iii]) ) { - // this code test is for parallel protection when you call put() multiple times in different threads - // to initialize the map. It returns the already bound key[iii] -> value - return map.get(keys[iii]); - } else { - // we are a new binding, put it in the map - map.put(keys[iii], value); - return value; - } - } else { - Map tmp = (Map) map.get(keys[iii]); - if( tmp == null ) { - tmp = new HashMap(); - map.put(keys[iii], tmp); - } - map = tmp; - } - } - - return value; // todo -- should never reach this point - } - - public List getAllValues() { - final List result = new ArrayList(); - fillAllValues(data, result); - return result; - } - - private void fillAllValues(final Map map, final List result) { - for ( Object value : map.values() ) { - if ( value == null ) - continue; - if ( value instanceof Map ) - fillAllValues((Map)value, result); - else - result.add(value); - } - } - - public static class Leaf { - public final List keys; - public final Object value; - - public Leaf(final List keys, final Object value) { - this.keys = keys; - this.value = value; - } - } - - public List getAllLeaves() { - final List result = new ArrayList(); - final List path = new ArrayList(); - fillAllLeaves(data, path, result); - return result; - } - - private void fillAllLeaves(final Map map, final List path, final List result) { - for ( final Object key : map.keySet() ) { - final Object value = map.get(key); - if ( value == null ) - continue; - final List newPath = new ArrayList(path); - newPath.add(key); - if ( value instanceof Map ) { - fillAllLeaves((Map) value, newPath, result); - } else { - result.add(new Leaf(newPath, value)); - } - } - } -} diff --git a/public/java/src/org/broadinstitute/sting/utils/duplicates/DupUtils.java b/public/java/src/org/broadinstitute/sting/utils/duplicates/DupUtils.java index c78294505..afd51eb26 100644 --- a/public/java/src/org/broadinstitute/sting/utils/duplicates/DupUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/duplicates/DupUtils.java @@ -94,8 +94,7 @@ public class DupUtils { Arrays.sort(probs); double normalizedP = Math.pow(10, bestProb) / sumProbs; - double eps = Math.pow(10, -maxQScore/10.0); - byte qual = QualityUtils.probToQual(normalizedP, eps); + byte qual = QualityUtils.trueProbToQual(normalizedP, maxQScore); // if ( false ) { // System.out.printf("Best base is %s %.8f%n", bestBase, bestProb); // System.out.printf("2nd base is %.8f%n", probs[1]); diff --git a/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java b/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java index 08d5882b1..1c461748e 100644 --- a/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java +++ b/public/java/src/org/broadinstitute/sting/utils/exceptions/UserException.java @@ -46,8 +46,8 @@ import java.io.File; * Time: 2:24:09 PM */ @DocumentedGATKFeature( - groupName = "User exceptions", - summary = "Exceptions caused by incorrect user behavior, such as bad files, bad arguments, etc." ) + groupName = HelpConstants.DOCS_CAT_USRERR, + summary = "Errors caused by incorrect user behavior, such as bad files, bad arguments, etc." ) public class UserException extends ReviewedStingException { /** * The URL where people can get help messages. Printed when an error occurs @@ -276,8 +276,14 @@ public class UserException extends ReviewedStingException { } public static class ReadMissingReadGroup extends MalformedBAM { - public ReadMissingReadGroup(SAMRecord read) { - super(read, String.format("Read %s is either missing the read group or its read group is not defined in the BAM header, both of which are required by the GATK. Please use " + HelpConstants.forumPost("discussion/59/companion-utilities-replacereadgroups to fix this problem"), read.getReadName())); + public ReadMissingReadGroup(final SAMRecord read) { + super(read, String.format("Read %s is missing the read group (RG) tag, which is required by the GATK. Please use " + HelpConstants.forumPost("discussion/59/companion-utilities-replacereadgroups to fix this problem"), read.getReadName())); + } + } + + public static class ReadHasUndefinedReadGroup extends MalformedBAM { + public ReadHasUndefinedReadGroup(final SAMRecord read, final String rgID) { + super(read, String.format("Read %s uses a read group (%s) that is not defined in the BAM header, which is not valid. Please use " + HelpConstants.forumPost("discussion/59/companion-utilities-replacereadgroups to fix this problem"), read.getReadName(), rgID)); } } @@ -387,15 +393,10 @@ public class UserException extends ReviewedStingException { } } - public static class CouldNotCreateReferenceFAIorDictForGzippedRef extends UserException { - public CouldNotCreateReferenceFAIorDictForGzippedRef(final File f) { - super("Although the GATK can process .gz reference sequences, it currently cannot create FAI " + - "or DICT files for them. In order to use the GATK with reference.fasta.gz you will need to " + - "create .dict and .fai files for reference.fasta.gz and name them reference.fasta.gz.fai and " + - "reference.dict. Potentially the easiest way to do this is to uncompress reference.fasta, " + - "run the GATK to create the .dict and .fai files, and copy them to the appropriate location. " + - "Sorry for the inconvenience."); - } + public static class CannotHandleGzippedRef extends UserException { + public CannotHandleGzippedRef() { + super("The GATK cannot process compressed (.gz) reference sequences. Please unzip the file and try again. Sorry for the inconvenience."); + } } public static class CouldNotCreateReferenceIndexFileBecauseOfLock extends UserException.CouldNotCreateReferenceIndexFile { diff --git a/public/java/src/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMap.java b/public/java/src/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMap.java index 9cfa20b8f..5e010db67 100644 --- a/public/java/src/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMap.java +++ b/public/java/src/org/broadinstitute/sting/utils/genotyper/PerReadAlleleLikelihoodMap.java @@ -54,21 +54,23 @@ public class PerReadAlleleLikelihoodMap { } /** - * Adds a read, allele and corresponding likelihood to map - * @param read SAM record to add - * @param a corresponding allele - * @param likelihood corresponding likelihood + * Add a new entry into the Read -> ( Allele -> Likelihood ) map of maps. + * @param read - the GATKSAMRecord that was evaluated + * @param a - the Allele against which the GATKSAMRecord was evaluated + * @param likelihood - the likelihood score resulting from the evaluation of "read" against "a" */ - public void add(GATKSAMRecord read, Allele a, Double likelihood) { - Map likelihoodMap; - if (likelihoodReadMap.containsKey(read)){ - // seen pileup element before - likelihoodMap = likelihoodReadMap.get(read); - } - else { - likelihoodMap = new HashMap(); - likelihoodReadMap.put(read,likelihoodMap); + public void add(final GATKSAMRecord read, final Allele a, final Double likelihood) { + if ( read == null ) throw new IllegalArgumentException("Cannot add a null read to the allele likelihood map"); + if ( a == null ) throw new IllegalArgumentException("Cannot add a null allele to the allele likelihood map"); + if ( likelihood == null ) throw new IllegalArgumentException("Likelihood cannot be null"); + if ( likelihood > 0.0 ) throw new IllegalArgumentException("Likelihood must be negative (L = log(p))"); + Map likelihoodMap = likelihoodReadMap.get(read); + if (likelihoodMap == null){ + // LinkedHashMap will ensure iterating through alleles will be in consistent order + likelihoodMap = new LinkedHashMap(); } + likelihoodReadMap.put(read,likelihoodMap); + likelihoodMap.put(a,likelihood); if (!alleles.contains(a)) @@ -80,6 +82,12 @@ public class PerReadAlleleLikelihoodMap { return AlleleBiasedDownsamplingUtils.createAlleleBiasedBasePileup(pileup, downsamplingFraction, log); } + /** + * For each allele "a" , identify those reads whose most likely allele is "a", and remove a "downsamplingFraction" proportion + * of those reads from the "likelihoodReadMap". This is used for e.g. sample contamination + * @param downsamplingFraction - the fraction of supporting reads to remove from each allele. If <=0 all reads kept, if >=1 all reads tossed. + * @param log - a PrintStream to log the removed reads to (passed through to the utility function) + */ public void performPerAlleleDownsampling(final double downsamplingFraction, final PrintStream log) { // special case removal of all or no reads if ( downsamplingFraction <= 0.0 ) @@ -90,11 +98,25 @@ public class PerReadAlleleLikelihoodMap { } // start by stratifying the reads by the alleles they represent at this position + final Map> alleleReadMap = getAlleleStratifiedReadMap(); + + // compute the reads to remove and actually remove them + final List readsToRemove = AlleleBiasedDownsamplingUtils.selectAlleleBiasedReads(alleleReadMap, downsamplingFraction, log); + for ( final GATKSAMRecord read : readsToRemove ) + likelihoodReadMap.remove(read); + } + + /** + * Convert the @likelihoodReadMap to a map of alleles to reads, where each read is mapped uniquely to the allele + * for which it has the greatest associated likelihood + * @return a map from each allele to a list of reads that 'support' the allele + */ + protected Map> getAlleleStratifiedReadMap() { final Map> alleleReadMap = new HashMap>(alleles.size()); - for ( Allele allele : alleles ) + for ( final Allele allele : alleles ) alleleReadMap.put(allele, new ArrayList()); - for ( Map.Entry> entry : likelihoodReadMap.entrySet() ) { + for ( final Map.Entry> entry : likelihoodReadMap.entrySet() ) { // do not remove reduced reads! if ( !entry.getKey().isReducedRead() ) { final Allele bestAllele = getMostLikelyAllele(entry.getValue()); @@ -103,10 +125,7 @@ public class PerReadAlleleLikelihoodMap { } } - // compute the reads to remove and actually remove them - final List readsToRemove = AlleleBiasedDownsamplingUtils.selectAlleleBiasedReads(alleleReadMap, downsamplingFraction, log); - for ( final GATKSAMRecord read : readsToRemove ) - likelihoodReadMap.remove(read); + return alleleReadMap; } @Ensures("result >=0") @@ -121,20 +140,22 @@ public class PerReadAlleleLikelihoodMap { * @param likelihood Allele likelihood */ public void add(PileupElement p, Allele a, Double likelihood) { - if (p==null || p.getRead()==null || a == null ) - throw new IllegalArgumentException("Invalid parameters passed to PerReadAlleleLikelihoodMap.add"); + if (p==null) + throw new IllegalArgumentException("Pileup element cannot be null"); + if ( p.getRead()==null ) + throw new IllegalArgumentException("Read underlying pileup element cannot be null"); + if ( a == null ) + throw new IllegalArgumentException("Allele for add() cannot be null"); + add(p.getRead(), a, likelihood); } - /** + /** * Does the current map contain the key associated with a particular SAM record in pileup? * @param p Pileup element * @return */ - public boolean containsPileupElement(PileupElement p) { - if (p==null ) - throw new IllegalArgumentException("Invalid pileup element"); - + public boolean containsPileupElement(final PileupElement p) { return likelihoodReadMap.containsKey(p.getRead()); } @@ -145,6 +166,7 @@ public class PerReadAlleleLikelihoodMap { public Map> getLikelihoodReadMap() { return likelihoodReadMap; } + public void clear() { alleles.clear(); likelihoodReadMap.clear(); @@ -162,7 +184,7 @@ public class PerReadAlleleLikelihoodMap { return likelihoodReadMap.size(); } - public Map getLikelihoodsAssociatedWithPileupElement(PileupElement p) { + public Map getLikelihoodsAssociatedWithPileupElement(final PileupElement p) { if (!likelihoodReadMap.containsKey(p.getRead())) return null; @@ -171,20 +193,42 @@ public class PerReadAlleleLikelihoodMap { /** - * For a given alleleMap, return most likely allele, i.e. the one with highest associated likelihood - * @param alleleMap Underlying allele map - * @return Most likely allele. If all alleles are equally likely, returns a no-call allele. + * Given a map from alleles to likelihoods, find the allele with the largest likelihood. + * If the difference between the most-likely allele and the next-most-likely allele is < INFORMATIVE_LIKELIHOOD_THRESHOLD + * then the most likely allele is set to "no call" + * @param alleleMap - a map from alleles to likelihoods + * @return - the most likely allele, or NO_CALL if two or more alleles have likelihoods within INFORMATIVE_LIKELIHOOD_THRESHOLD + * of one another. By default empty allele maps will return NO_CALL, and allele maps with a single entry will return the + * corresponding key */ @Ensures("result != null") public static Allele getMostLikelyAllele( final Map alleleMap ) { + return getMostLikelyAllele(alleleMap, null); + } + + /** + * Given a map from alleles to likelihoods, find the allele with the largest likelihood. + * If the difference between the most-likely allele and the next-most-likely allele is < INFORMATIVE_LIKELIHOOD_THRESHOLD + * then the most likely allele is set to "no call" + * + * @param alleleMap - a map from alleles to likelihoods + * @param onlyConsiderTheseAlleles if not null, we will only consider alleles in this set for being one of the best. + * this is useful for the case where you've selected a subset of the alleles that + * the reads have been computed for further analysis. If null totally ignored + * @return - the most likely allele, or NO_CALL if two or more alleles have likelihoods within INFORMATIVE_LIKELIHOOD_THRESHOLD + * of one another. By default empty allele maps will return NO_CALL, and allele maps with a single entry will return the + * corresponding key + */ + public static Allele getMostLikelyAllele( final Map alleleMap, final Set onlyConsiderTheseAlleles ) { + if ( alleleMap == null ) throw new IllegalArgumentException("The allele to likelihood map cannot be null"); double maxLike = Double.NEGATIVE_INFINITY; double prevMaxLike = Double.NEGATIVE_INFINITY; Allele mostLikelyAllele = Allele.NO_CALL; - if (alleleMap==null) - throw new IllegalArgumentException("alleleMap in getMostLikelyAllele() method can't be null"); - for (final Map.Entry el : alleleMap.entrySet()) { + if ( onlyConsiderTheseAlleles != null && ! onlyConsiderTheseAlleles.contains(el.getKey()) ) + continue; + if (el.getValue() > maxLike) { prevMaxLike = maxLike; maxLike = el.getValue(); @@ -195,4 +239,26 @@ public class PerReadAlleleLikelihoodMap { } return (maxLike - prevMaxLike > INFORMATIVE_LIKELIHOOD_THRESHOLD ? mostLikelyAllele : Allele.NO_CALL ); } + + /** + * Debug method to dump contents of object into string for display + */ + @Override + public String toString() { + StringBuilder sb = new StringBuilder(); + + sb.append("Alelles in map:"); + for (Allele a:alleles) { + sb.append(a.getDisplayString()+","); + + } + sb.append("\n"); + for (Map.Entry > el : getLikelihoodReadMap().entrySet() ) { + for (Map.Entry eli : el.getValue().entrySet()) { + sb.append("Read "+el.getKey().getReadName()+". Allele:"+eli.getKey().getDisplayString()+" has likelihood="+Double.toString(eli.getValue())+"\n"); + } + + } + return sb.toString(); + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/AllHaplotypeBAMWriter.java b/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/AllHaplotypeBAMWriter.java new file mode 100644 index 000000000..46ffd43b6 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/AllHaplotypeBAMWriter.java @@ -0,0 +1,80 @@ +/* + * Copyright (c) 2012 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.haplotypeBAMWriter; + +import net.sf.samtools.*; +import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.variant.variantcontext.Allele; + +import java.util.*; + +/** + * A haplotype bam writer that writes out all haplotypes as reads and then + * the alignment of reach read to its best match among the best haplotypes. + * + * Primarily useful for people working on the HaplotypeCaller method itself + * + * User: depristo + * Date: 2/22/13 + * Time: 1:50 PM + */ +class AllHaplotypeBAMWriter extends HaplotypeBAMWriter { + public AllHaplotypeBAMWriter(final SAMFileWriter bamWriter) { + super(bamWriter); + } + + /** + * {@inheritDoc} + */ + @Override + public void writeReadsAlignedToHaplotypes(final List haplotypes, + final GenomeLoc paddedReferenceLoc, + final List bestHaplotypes, + final Set calledHaplotypes, + final Map stratifiedReadMap) { + writeHaplotypesAsReads(haplotypes, new HashSet(bestHaplotypes), paddedReferenceLoc); + + // we need to remap the Alleles back to the Haplotypes; inefficient but unfortunately this is a requirement currently + final Map alleleToHaplotypeMap = new HashMap(haplotypes.size()); + for ( final Haplotype haplotype : haplotypes ) + alleleToHaplotypeMap.put(Allele.create(haplotype.getBases()), haplotype); + + // next, output the interesting reads for each sample aligned against the appropriate haplotype + for ( final PerReadAlleleLikelihoodMap readAlleleLikelihoodMap : stratifiedReadMap.values() ) { + for ( Map.Entry> entry : readAlleleLikelihoodMap.getLikelihoodReadMap().entrySet() ) { + final Allele bestAllele = PerReadAlleleLikelihoodMap.getMostLikelyAllele(entry.getValue()); + if ( bestAllele != Allele.NO_CALL ) + writeReadAgainstHaplotype(entry.getKey(), alleleToHaplotypeMap.get(bestAllele), paddedReferenceLoc.getStart()); + } + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/CalledHaplotypeBAMWriter.java b/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/CalledHaplotypeBAMWriter.java new file mode 100644 index 000000000..a33ed809a --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/CalledHaplotypeBAMWriter.java @@ -0,0 +1,87 @@ +/* + * Copyright (c) 2012 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.haplotypeBAMWriter; + +import net.sf.samtools.SAMFileWriter; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.variant.variantcontext.Allele; + +import java.util.*; + +/** + * Writes a BAM containing just the reads in stratifiedReadMap aligned to their + * most likely haplotype among all of the called haplotypes. + * + * Primarily useful for users of the HaplotypeCaller who want to better understand the + * support of their calls w.r.t. the reads. + * + * User: depristo + * Date: 2/22/13 + * Time: 1:50 PM + */ +class CalledHaplotypeBAMWriter extends HaplotypeBAMWriter { + public CalledHaplotypeBAMWriter(final SAMFileWriter bamWriter) { + super(bamWriter); + } + + /** + * {@inheritDoc} + */ + @Override + public void writeReadsAlignedToHaplotypes(final List haplotypes, + final GenomeLoc paddedReferenceLoc, + final List bestHaplotypes, + final Set calledHaplotypes, + final Map stratifiedReadMap) { + if ( calledHaplotypes.isEmpty() ) // only write out called haplotypes + return; + + writeHaplotypesAsReads(calledHaplotypes, calledHaplotypes, paddedReferenceLoc); + + // we need to remap the Alleles back to the Haplotypes; inefficient but unfortunately this is a requirement currently + final Map alleleToHaplotypeMap = new HashMap(haplotypes.size()); + for ( final Haplotype haplotype : calledHaplotypes ) { + alleleToHaplotypeMap.put(Allele.create(haplotype.getBases()), haplotype); + } + + // the set of all alleles that were actually called + final Set allelesOfCalledHaplotypes = alleleToHaplotypeMap.keySet(); + + // next, output the interesting reads for each sample aligned against one of the called haplotypes + for ( final PerReadAlleleLikelihoodMap readAlleleLikelihoodMap : stratifiedReadMap.values() ) { + for ( Map.Entry> entry : readAlleleLikelihoodMap.getLikelihoodReadMap().entrySet() ) { + if ( entry.getKey().getMappingQuality() > 0 ) { + final Allele bestAllele = PerReadAlleleLikelihoodMap.getMostLikelyAllele(entry.getValue(), allelesOfCalledHaplotypes); + if ( bestAllele != Allele.NO_CALL ) + writeReadAgainstHaplotype(entry.getKey(), alleleToHaplotypeMap.get(bestAllele), paddedReferenceLoc.getStart()); + } + } + } + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/HaplotypeBAMWriter.java b/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/HaplotypeBAMWriter.java new file mode 100644 index 000000000..c0d3b38fa --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/haplotypeBAMWriter/HaplotypeBAMWriter.java @@ -0,0 +1,282 @@ +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + +package org.broadinstitute.sting.utils.haplotypeBAMWriter; + +import net.sf.samtools.*; +import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; +import org.broadinstitute.sting.utils.GenomeLoc; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.genotyper.PerReadAlleleLikelihoodMap; +import org.broadinstitute.sting.utils.sam.AlignmentUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; + +import java.util.*; + +/** + * A BAMWriter that aligns reads to haplotypes and emits their best alignments to a BAM file + * + * User: depristo + * Date: 2/22/13 + * Time: 2:59 PM + */ +public abstract class HaplotypeBAMWriter { + /** + * Allows us to write out unique names for our synthetic haplotype reads + */ + private long uniqueNameCounter = 1; + + protected final static String READ_GROUP_ID = "ArtificialHaplotype"; + protected final static String HAPLOTYPE_TAG = "HC"; + + final SAMFileWriter bamWriter; + final SAMFileHeader bamHeader; + + /** + * Possible modes for writing haplotypes to BAMs + */ + public static enum Type { + /** + * A mode that's for method developers. Writes out all of the possible + * haplotypes considered, as well as reads aligned to each + */ + ALL_POSSIBLE_HAPLOTYPES, + + /** + * A mode for users. Writes out the reads aligned only to the called + * haplotypes. Useful to understand why the caller is calling what it is + */ + CALLED_HAPLOTYPES + } + + /** + * Create a new HaplotypeBAMWriter of type writing SAMRecords to writer + * + * @param type the type of the writer we want to create + * @param stingSAMWriter the destination, must not be null + * @param header the header of the input BAMs used to make calls, must not be null + * @return a new HaplotypeBAMWriter + */ + public static HaplotypeBAMWriter create(final Type type, final StingSAMFileWriter stingSAMWriter, final SAMFileHeader header) { + if ( header == null ) throw new IllegalArgumentException("header cannot be null"); + if ( stingSAMWriter == null ) throw new IllegalArgumentException("writer cannot be null"); + if ( type == null ) throw new IllegalArgumentException("type cannot be null"); + + // prepare the bam header + final SAMFileHeader bamHeader = new SAMFileHeader(); + bamHeader.setSequenceDictionary(header.getSequenceDictionary()); + bamHeader.setSortOrder(SAMFileHeader.SortOrder.coordinate); + + // include the original read groups plus a new artificial one for the haplotypes + final List readGroups = new ArrayList(header.getReadGroups()); + final SAMReadGroupRecord rg = new SAMReadGroupRecord(READ_GROUP_ID); + rg.setSample("HC"); + rg.setSequencingCenter("BI"); + readGroups.add(rg); + bamHeader.setReadGroups(readGroups); + + // TODO -- this will be a performance problem at high-scale + stingSAMWriter.setPresorted(false); + stingSAMWriter.writeHeader(bamHeader); + return create(type, stingSAMWriter); + } + + /** + * Create a new HaplotypeBAMWriter of type writing SAMRecords to writer + * + * Note that writer must have its presorted bit set to false, as reads + * may come in out of order during writing + * + * @param type the type of the writer we want to create + * @param writer the destination, must not be null + * @return a new HaplotypeBAMWriter + */ + public static HaplotypeBAMWriter create(final Type type, final SAMFileWriter writer) { + if ( writer == null ) throw new IllegalArgumentException("writer cannot be null"); + if ( type == null ) throw new IllegalArgumentException("type cannot be null"); + + switch ( type ) { + case ALL_POSSIBLE_HAPLOTYPES: return new AllHaplotypeBAMWriter(writer); + case CALLED_HAPLOTYPES: return new CalledHaplotypeBAMWriter(writer); + default: throw new IllegalArgumentException("Unknown type " + type); + } + } + + /** + * Create a new HaplotypeBAMWriter writing its output to bamWriter + * + * Assumes that the header has been fully initialized with a single + * read group READ_GROUP_ID + * + * @param bamWriter our output destination + */ + protected HaplotypeBAMWriter(SAMFileWriter bamWriter) { + this.bamWriter = bamWriter; + this.bamHeader = bamWriter.getFileHeader(); + } + + /** + * Write out a BAM representing for the haplotype caller at this site + * + * @param haplotypes a list of all possible haplotypes at this loc + * @param paddedReferenceLoc the span of the based reference here + * @param bestHaplotypes a list of the best (a subset of all) haplotypes that actually went forward into genotyping + * @param calledHaplotypes a list of the haplotypes at where actually called as non-reference + * @param stratifiedReadMap a map from sample -> likelihoods for each read for each of the best haplotypes + */ + public abstract void writeReadsAlignedToHaplotypes(final List haplotypes, + final GenomeLoc paddedReferenceLoc, + final List bestHaplotypes, + final Set calledHaplotypes, + final Map stratifiedReadMap); + + /** + * Write out read aligned to haplotype to the BAM file + * + * Aligns reads the haplotype, and then projects this alignment of read -> hap onto the reference + * via the alignment of haplotype (via its getCigar) method. + * + * @param originalRead the read we want to write aligned to the reference genome + * @param haplotype the haplotype that the read should be aligned to, before aligning to the reference + * @param referenceStart the start of the reference that haplotype is aligned to. Provides global coordinate frame. + */ + protected void writeReadAgainstHaplotype(final GATKSAMRecord originalRead, + final Haplotype haplotype, + final int referenceStart) { + final GATKSAMRecord alignedToRef = createReadAlignedToRef(originalRead, haplotype, referenceStart); + if ( alignedToRef != null ) + bamWriter.addAlignment(alignedToRef); + } + + /** + * Aligns reads the haplotype, and then projects this alignment of read -> hap onto the reference + * via the alignment of haplotype (via its getCigar) method. + * + * @param originalRead the read we want to write aligned to the reference genome + * @param haplotype the haplotype that the read should be aligned to, before aligning to the reference + * @param referenceStart the start of the reference that haplotype is aligned to. Provides global coordinate frame. + * @return a GATKSAMRecord aligned to reference, or null if no meaningful alignment is possible + */ + protected GATKSAMRecord createReadAlignedToRef(final GATKSAMRecord originalRead, + final Haplotype haplotype, + final int referenceStart) { + if ( originalRead == null ) throw new IllegalArgumentException("originalRead cannot be null"); + if ( haplotype == null ) throw new IllegalArgumentException("haplotype cannot be null"); + if ( haplotype.getCigar() == null ) throw new IllegalArgumentException("Haplotype cigar not set " + haplotype); + if ( referenceStart < 1 ) throw new IllegalArgumentException("reference start much be >= 1 but got " + referenceStart); + + try { + // compute the smith-waterman alignment of read -> haplotype + final SWPairwiseAlignment swPairwiseAlignment = new SWPairwiseAlignment(haplotype.getBases(), originalRead.getReadBases(), 5.0, -10.0, -22.0, -1.2); + //swPairwiseAlignment.printAlignment(haplotype.getBases(), originalRead.getReadBases()); + if ( swPairwiseAlignment.getAlignmentStart2wrt1() == -1 ) + // sw can fail (reasons not clear) so if it happens just don't write the read + return null; + final Cigar swCigar = AlignmentUtils.consolidateCigar(swPairwiseAlignment.getCigar()); + + // since we're modifying the read we need to clone it + final GATKSAMRecord read = (GATKSAMRecord)originalRead.clone(); + + addHaplotypeTag(read, haplotype); + + // compute here the read starts w.r.t. the reference from the SW result and the hap -> ref cigar + final Cigar extendedHaplotypeCigar = haplotype.getConsolidatedPaddedCigar(1000); + final int readStartOnHaplotype = AlignmentUtils.calcFirstBaseMatchingReferenceInCigar(extendedHaplotypeCigar, swPairwiseAlignment.getAlignmentStart2wrt1()); + final int readStartOnReference = referenceStart + haplotype.getAlignmentStartHapwrtRef() + readStartOnHaplotype; + read.setAlignmentStart(readStartOnReference); + + // compute the read -> ref alignment by mapping read -> hap -> ref from the + // SW of read -> hap mapped through the given by hap -> ref + final Cigar haplotypeToRef = AlignmentUtils.trimCigarByBases(extendedHaplotypeCigar, swPairwiseAlignment.getAlignmentStart2wrt1(), extendedHaplotypeCigar.getReadLength() - 1); + final Cigar readToRefCigarRaw = AlignmentUtils.applyCigarToCigar(swCigar, haplotypeToRef); + final Cigar readToRefCigarClean = AlignmentUtils.cleanUpCigar(readToRefCigarRaw); + final Cigar readToRefCigar = AlignmentUtils.leftAlignIndel(readToRefCigarClean, haplotype.getBases(), + originalRead.getReadBases(), swPairwiseAlignment.getAlignmentStart2wrt1(), 0, true); + + read.setCigar(readToRefCigar); + + if ( readToRefCigar.getReadLength() != read.getReadLength() ) + throw new IllegalStateException("Cigar " + readToRefCigar + " with read length " + readToRefCigar.getReadLength() + + " != read length " + read.getReadLength() + " for read " + read.format() + "\nhapToRef " + haplotypeToRef + " length " + haplotypeToRef.getReadLength() + "/" + haplotypeToRef.getReferenceLength() + + "\nreadToHap " + swCigar + " length " + swCigar.getReadLength() + "/" + swCigar.getReferenceLength()); + + return read; + } catch ( CloneNotSupportedException e ) { + throw new IllegalStateException("GATKSAMRecords should support clone but this one does not " + originalRead); + } + } + + /** + * Add a haplotype tag to the read based on haplotype + * + * @param read the read to add the tag to + * @param haplotype the haplotype that gives rises to read + */ + private void addHaplotypeTag(final GATKSAMRecord read, final Haplotype haplotype) { + // add a tag to the read that indicates which haplotype it best aligned to. It's a uniquish integer + read.setAttribute(HAPLOTYPE_TAG, haplotype.hashCode()); + } + + /** + * Write out haplotypes as reads to the BAM, marking specifically those that are among the best haplotypes + * + * @param haplotypes a collection of haplotypes to write to the BAM + * @param bestHaplotypes a subset of haplotypes that contains those that are best "either good or called" + * @param paddedReferenceLoc the genome loc of the padded reference + */ + protected void writeHaplotypesAsReads(final Collection haplotypes, + final Set bestHaplotypes, + final GenomeLoc paddedReferenceLoc) { + for ( final Haplotype haplotype : haplotypes ) + writeHaplotype(haplotype, paddedReferenceLoc, bestHaplotypes.contains(haplotype)); + } + + /** + * Write out a representation of this haplotype as a read + * + * @param haplotype a haplotype to write out. Cannot be null + * @param paddedRefLoc the reference location. Cannot be null + * @param isAmongBestHaplotypes true if among the best haplotypes, false if it was just one possible but not so good + */ + private void writeHaplotype(final Haplotype haplotype, + final GenomeLoc paddedRefLoc, + final boolean isAmongBestHaplotypes) { + final GATKSAMRecord record = new GATKSAMRecord(bamHeader); + record.setReadBases(haplotype.getBases()); + record.setAlignmentStart(paddedRefLoc.getStart() + haplotype.getAlignmentStartHapwrtRef()); + record.setBaseQualities(Utils.dupBytes((byte) '!', haplotype.getBases().length)); + record.setCigar(AlignmentUtils.consolidateCigar(haplotype.getCigar())); + record.setMappingQuality(isAmongBestHaplotypes ? 60 : 0); + record.setReadName("HC" + uniqueNameCounter++); + addHaplotypeTag(record, haplotype); + record.setReadUnmappedFlag(false); + record.setReferenceIndex(paddedRefLoc.getContigIndex()); + record.setAttribute(SAMTag.RG.toString(), READ_GROUP_ID); + record.setFlags(16); + bamWriter.addAlignment(record); + } +} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java b/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java index 43f84833f..e8596aa78 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GATKDocUtils.java @@ -31,11 +31,11 @@ public class GATKDocUtils { */ public final static String URL_ROOT_FOR_RELEASE_GATKDOCS = HelpConstants.GATK_DOCS_URL; /** - * The URL root for STABLE GATKDOC units + * The URL root for STABLE GATKDOC units //TODO: do sthing with this or remove -- URL goes nowhere */ public final static String URL_ROOT_FOR_STABLE_GATKDOCS = "http://iwww.broadinstitute.org/gsa/gatkdocs/stable/"; /** - * The URL root for UNSTABLE GATKDOC units + * The URL root for UNSTABLE GATKDOC units //TODO: do sthing with this or remove -- URL goes nowhere */ public final static String URL_ROOT_FOR_UNSTABLE_GATKDOCS = "http://iwww.broadinstitute.org/gsa/gatkdocs/unstable/"; @@ -55,7 +55,7 @@ public class GATKDocUtils { /** * Returns a full URL http://etc/ linking to the documentation for class (assuming it - * exists). Currently points to the RELEASE doc path only. + * exists). Currently points to the RELEASE doc path only. //TODO: do sthing with other paths or remove ? * * @param c * @return diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java b/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java index fc1fc99d6..677bbf2e5 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GATKDoclet.java @@ -51,8 +51,8 @@ import java.util.*; *

    * This document has the following workflow: *

    - * 1 -- walk the javadoc heirarchy, looking for class that have the - * DocumentedGATKFeature annotation or are in the type heirarchy in the + * 1 -- walk the javadoc hierarchy, looking for class that have the + * DocumentedGATKFeature annotation or are in the type hierarchy in the * static list of things to document, and are to be documented * 2 -- construct for each a GATKDocWorkUnit, resulting in the complete * set of things to document @@ -117,8 +117,8 @@ public class GATKDoclet { static { STATIC_DOCS.add(new DocumentedGATKFeatureObject(FeatureCodec.class, - "Reference ordered data (ROD) codecs", - "Tribble codecs for reading reference ordered data such as VCF or BED files")); + HelpConstants.DOCS_CAT_RODCODECS, + "Tribble codecs for reading reference ordered data (ROD) files such as VCF or BED")); } @@ -224,7 +224,7 @@ public class GATKDoclet { File forumKeyFile = new File(FORUM_KEY_FILE); if (forumKeyFile.exists()) { String forumKey = null; - // Read ing a one-line file so we can do a for loop + // Read in a one-line file so we can do a for loop for (String line : new XReadLines(forumKeyFile)) forumKey = line; updateForum(myWorkUnits, forumKey); @@ -283,7 +283,7 @@ public class GATKDoclet { DocumentedGATKFeatureObject feature = getFeatureForClassDoc(doc); DocumentedGATKFeatureHandler handler = createHandler(doc, feature); if (handler != null && handler.includeInDocs(doc)) { - logger.info("Generating documentation for class " + doc); + //logger.info("Generating documentation for class " + doc); String filename = handler.getDestinationFilename(doc, clazz); GATKDocWorkUnit unit = new GATKDocWorkUnit(doc.name(), filename, feature.groupName(), feature, handler, doc, clazz, @@ -411,6 +411,8 @@ public class GATKDoclet { } } + //System.out.printf(groups.toString()); + root.put("data", data); root.put("groups", groups); root.put("timestamp", buildTimestamp); @@ -421,6 +423,7 @@ public class GATKDoclet { /** * Trivial helper routine that returns the map of name and summary given the annotation + * AND adds a super-category so that we can custom-order the categories in the index * * @param annotation * @return @@ -430,6 +433,23 @@ public class GATKDoclet { root.put("id", annotation.groupName().replaceAll("\\W", "")); root.put("name", annotation.groupName()); root.put("summary", annotation.summary()); + + /** + * Add-on super-category definitions. The assignments depend on parsing the names + * defined in HelpConstants.java so be careful of changing anything. + * Also, the super-category value strings need to be the same as used in the + * Freemarker template. This is all fairly clunky but the best I could do without + * making major changes to the DocumentedGATKFeatureObject. Doesn't help that + * Freemarker makes any scripting horribly awkward. + */ + final String supercatValue; + if (annotation.groupName().endsWith(" Tools")) supercatValue = "tools"; + else if (annotation.groupName().endsWith(" Utilities")) supercatValue = "utilities"; + else if (annotation.groupName().startsWith("Engine ")) supercatValue = "engine"; + else supercatValue = "other"; + + root.put("supercat", supercatValue); + return root; } diff --git a/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java b/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java index bb0dc670b..1711a3923 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/GenericDocumentationHandler.java @@ -30,11 +30,13 @@ import com.google.java.contract.Requires; import com.sun.javadoc.ClassDoc; import com.sun.javadoc.FieldDoc; import com.sun.javadoc.Tag; +import org.apache.commons.lang.StringUtils; import org.apache.log4j.Logger; import org.broad.tribble.Feature; import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.gatk.CommandLineGATK; import org.broadinstitute.sting.gatk.refdata.tracks.FeatureManager; +import org.broadinstitute.sting.gatk.walkers.*; import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.classloader.JVMUtils; import org.broadinstitute.sting.utils.collections.Pair; @@ -42,6 +44,7 @@ import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.StingException; import java.io.IOException; +import java.lang.annotation.Annotation; import java.lang.reflect.*; import java.util.*; @@ -91,6 +94,9 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { addRelatedBindings(root); root.put("group", toProcess.group); + // Adding in retrieval of peripheral info (rf annotations etc) + getClazzAnnotations(toProcess.clazz, root); + toProcess.setHandlerContent((String) root.get("summary"), root); } @@ -135,7 +141,6 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { put("filename", otherUnit.filename); put("name", otherUnit.name); }}); - } root.put("extradocs", extraDocsData); } @@ -270,6 +275,247 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { } } + /** + * Umbrella function that groups the collection of values for specific annotations applied to an + * instance of class c. Lists of collected values are added directly to the "toProcess" object. + * Requires being able to instantiate the class. + * + * @param classToProcess the object to instantiate and query for the annotation + * @param root the root of the document handler, to which we'll store collected annotations + */ + private void getClazzAnnotations(Class classToProcess, Map root) { + // + // attempt to instantiate the class + final Object instance = makeInstanceIfPossible(classToProcess); + if (instance != null) { + final Class myClass = instance.getClass(); + // Get parallelism options + final HashSet> parallelOptions = getParallelism(myClass, new HashSet>()); + root.put("parallel", parallelOptions); + // Get annotation info (what type of annotation, standard etc.) + final HashSet annotInfo = getAnnotInfo(myClass, new HashSet()); + root.put("annotinfo", StringUtils.join(annotInfo, ", ")); + // Get walker type if applicable + root.put("walkertype", getWalkerType(myClass)); + // Get partition type if applicable + root.put("partitiontype", getPartitionType(myClass)); + // Get read filter annotations (ReadFilters) if applicable + final HashSet> bucket= getReadFilters(myClass, new HashSet>()); + root.put("readfilters", bucket); + // Get default downsampling settings + final HashMap dsSettings = getDownSamplingSettings(myClass, new HashMap()); + root.put("downsampling", dsSettings); + // Get reference window size settings + final HashMap refwindow = getRefWindow(myClass, new HashMap()); + root.put("refwindow", refwindow); + // Get ActiveRegion size settings + final HashMap activeRegion = getActiveRegion(myClass, new HashMap()); + root.put("activeregion", activeRegion); + // anything else? + } else { + // put empty items to avoid blowups + root.put("parallel", new HashSet()); + root.put("annotinfo", ""); + root.put("walkertype", ""); + root.put("partitiontype", ""); + root.put("readfilters", new HashSet>()); + root.put("downsampling", new HashMap()); + root.put("refwindow", new HashMap()); + root.put("activeregion", new HashMap()); + } + } + + /** + * Utility function that checks which parallelism options are available for an instance of class c. + * + * @param myClass the class to query for the interfaces + * @param parallelOptions an empty HashSet in which to collect the info + * @return a hash set of parallelism options, otherwise an empty set + */ + private HashSet> getParallelism(Class myClass, HashSet> parallelOptions) { + // + // Retrieve interfaces + Class[] implementedInterfaces = myClass.getInterfaces(); + for (Class intfClass : implementedInterfaces) { + final HashMap nugget = new HashMap(); + if (intfClass.getSimpleName().equals("TreeReducible")) { + nugget.put("name", intfClass.getSimpleName()); + nugget.put("arg", HelpConstants.ARG_TREEREDUCIBLE); + nugget.put("link", HelpConstants.CMDLINE_GATK_URL + "#" + HelpConstants.ARG_TREEREDUCIBLE); + } else if (intfClass.getSimpleName().equals("NanoSchedulable")) { + nugget.put("name", intfClass.getSimpleName()); + nugget.put("arg", HelpConstants.ARG_NANOSCHEDULABLE); + nugget.put("link", HelpConstants.CMDLINE_GATK_URL + "#" + HelpConstants.ARG_NANOSCHEDULABLE); + } else { + continue; + } + parallelOptions.add(nugget); + } + // Look up superclasses recursively + final Class mySuperClass = myClass.getSuperclass(); + if (mySuperClass.getSimpleName().equals("Object")) { + return parallelOptions; + } + return getParallelism(mySuperClass, parallelOptions); + } + + /** + * Utility function that determines the annotation type for an instance of class c. + * + * @param myClass the class to query for the interfaces + * @param annotInfo an empty HashSet in which to collect the info + * @return a hash set of the annotation types, otherwise an empty set + */ + private HashSet getAnnotInfo(Class myClass, HashSet annotInfo) { + // + // Retrieve interfaces + Class[] implementedInterfaces = myClass.getInterfaces(); + for (Class intfClass : implementedInterfaces) { + if (intfClass.getName().contains("Annotation")) { + annotInfo.add(intfClass.getSimpleName()); + } + } + // Look up superclasses recursively + final Class mySuperClass = myClass.getSuperclass(); + if (mySuperClass.getSimpleName().equals("Object")) { + return annotInfo; + } + return getAnnotInfo(mySuperClass, annotInfo); + } + + /** + * Utility function that determines the default downsampling settings for an instance of class c. + * + * @param myClass the class to query for the settings + * @param dsSettings an empty HashMap in which to collect the info + * @return a hash set of the downsampling settings, otherwise an empty set + */ + private HashMap getDownSamplingSettings(Class myClass, HashMap dsSettings) { + // + // Retrieve annotation + if (myClass.isAnnotationPresent(Downsample.class)) { + final Annotation thisAnnotation = myClass.getAnnotation(Downsample.class); + if(thisAnnotation instanceof Downsample) { + final Downsample dsAnnotation = (Downsample) thisAnnotation; + dsSettings.put("by", dsAnnotation.by().toString()); + dsSettings.put("to_cov", dsAnnotation.toCoverage()); + } + } + return dsSettings; + } + + /** + * Utility function that determines the reference window size for an instance of class c. + * + * @param myClass the class to query for the settings + * @param refWindow an empty HashMap in which to collect the info + * @return a HashMap of the window start and stop, otherwise an empty HashMap + */ + private HashMap getRefWindow(Class myClass, HashMap refWindow) { + // + // Retrieve annotation + if (myClass.isAnnotationPresent(Reference.class)) { + final Annotation thisAnnotation = myClass.getAnnotation(Reference.class); + if(thisAnnotation instanceof Reference) { + final Reference refAnnotation = (Reference) thisAnnotation; + refWindow.put("start", refAnnotation.window().start()); + refWindow.put("stop", refAnnotation.window().stop()); + } + } + return refWindow; + } + + /** + * Utility function that determines the ActiveRegion settings for an instance of class c. + * + * @param myClass the class to query for the settings + * @param activeRegion an empty HashMap in which to collect the info + * @return a HashMap of the ActiveRegion parameters, otherwise an empty HashMap + */ + private HashMap getActiveRegion(Class myClass, HashMap activeRegion) { + // + // Retrieve annotation + if (myClass.isAnnotationPresent(ActiveRegionTraversalParameters.class)) { + final Annotation thisAnnotation = myClass.getAnnotation(ActiveRegionTraversalParameters.class); + if(thisAnnotation instanceof ActiveRegionTraversalParameters) { + final ActiveRegionTraversalParameters arAnnotation = (ActiveRegionTraversalParameters) thisAnnotation; + activeRegion.put("ext", arAnnotation.extension()); + activeRegion.put("max", arAnnotation.maxRegion()); + activeRegion.put("min", arAnnotation.minRegion()); + } + } + return activeRegion; + } + + /** + * Utility function that determines the partition type of an instance of class c. + * + * @param myClass the class to query for the annotation + * @return the partition type if applicable, otherwise an empty string + */ + private String getPartitionType(Class myClass) { + // + // Retrieve annotation + if (myClass.isAnnotationPresent(PartitionBy.class)) { + final Annotation thisAnnotation = myClass.getAnnotation(PartitionBy.class); + if(thisAnnotation instanceof PartitionBy) { + final PartitionBy partAnnotation = (PartitionBy) thisAnnotation; + return partAnnotation.value().toString(); + } + } + return ""; + } + + /** + * Utility function that determines the type of walker subclassed by an instance of class c. + * + * @param myClass the class to query for the annotation + * @return the type of walker if applicable, otherwise an empty string + */ + private String getWalkerType(Class myClass) { + // + // Look up superclasses recursively until we find either Walker or Object + final Class mySuperClass = myClass.getSuperclass(); + if (mySuperClass.getSimpleName().equals("Walker")) { + return myClass.getSimpleName(); + } else if (mySuperClass.getSimpleName().equals("Object")) { + return ""; + } + return getWalkerType(mySuperClass); + } + + /** + * Utility function that finds the values of ReadFilters annotation applied to an instance of class c. + * + * @param myClass the class to query for the annotation + * @param bucket a container in which we store the annotations collected + * @return a hash set of values, otherwise an empty set + */ + private HashSet> getReadFilters(Class myClass, HashSet> bucket) { + // + // Retrieve annotation + if (myClass.isAnnotationPresent(ReadFilters.class)) { + final Annotation thisAnnotation = myClass.getAnnotation(ReadFilters.class); + if(thisAnnotation instanceof ReadFilters) { + final ReadFilters rfAnnotation = (ReadFilters) thisAnnotation; + for (Class filter : rfAnnotation.value()) { + // make hashmap of simplename and url + final HashMap nugget = new HashMap(); + nugget.put("name", filter.getSimpleName()); + nugget.put("filename", GATKDocUtils.htmlFilenameForClass(filter)); + bucket.add(nugget); + } + } + } + // Look up superclasses recursively + final Class mySuperClass = myClass.getSuperclass(); + if (mySuperClass.getSimpleName().equals("Object")) { + return bucket; + } + return getReadFilters(mySuperClass, bucket); + } + + /** * Utility function that finds the value of fieldName in any fields of ArgumentCollection fields in * instance of class c. @@ -287,6 +533,7 @@ public class GenericDocumentationHandler extends DocumentedGATKFeatureHandler { // @ArgumentCollection // protected DbsnpArgumentCollection dbsnp = new DbsnpArgumentCollection(); // + for (Field field : JVMUtils.getAllFields(instance.getClass())) { if (field.isAnnotationPresent(ArgumentCollection.class)) { //System.out.printf("Searching for %s in argument collection field %s%n", fieldName, field); diff --git a/public/java/src/org/broadinstitute/sting/utils/help/HelpConstants.java b/public/java/src/org/broadinstitute/sting/utils/help/HelpConstants.java index 8a159b067..f99ff7538 100644 --- a/public/java/src/org/broadinstitute/sting/utils/help/HelpConstants.java +++ b/public/java/src/org/broadinstitute/sting/utils/help/HelpConstants.java @@ -32,6 +32,31 @@ public class HelpConstants { public final static String GATK_FORUM_URL = "http://gatkforums.broadinstitute.org/"; public final static String GATK_FORUM_API_URL = "https://gatkforums.broadinstitute.org/api/v1/"; + /** + * Arguments for parallelism options + */ + public final static String ARG_TREEREDUCIBLE = "-nt"; + public final static String ARG_NANOSCHEDULABLE = "-nct"; + public final static String CMDLINE_GATK_URL = GATK_DOCS_URL + "org_broadinstitute_sting_gatk_CommandLineGATK.html"; + + /** + * Definition of the group names / categories of tools. + * The names get parsed to make supercategories in the doc index, + * so be careful when making big changes -- see GATKDoclet.java toMap() + */ + public final static String DOCS_CAT_DATA = "Sequence Data Processing Tools"; + public final static String DOCS_CAT_QC = "Diagnostics and Quality Control Tools"; + public final static String DOCS_CAT_ENGINE = "Engine Parameters (available to all tools)"; + public final static String DOCS_CAT_RF = "Read Filters"; + public final static String DOCS_CAT_REFUTILS = "Reference Utilities"; + public final static String DOCS_CAT_RODCODECS = "ROD Codecs"; + public final static String DOCS_CAT_USRERR = "User Exceptions"; + public final static String DOCS_CAT_VALIDATION = "Validation Utilities"; + public final static String DOCS_CAT_ANNOT = "Variant Annotations"; + public final static String DOCS_CAT_VARDISC = "Variant Discovery Tools"; + public final static String DOCS_CAT_VARMANIP = "Variant Evaluation and Manipulation Tools"; + public final static String DOCS_CAT_TEST = "Testing Tools"; + public static String forumPost(String post) { return GATK_FORUM_URL + post; } diff --git a/public/java/src/org/broadinstitute/sting/utils/locusiterator/LIBSPerformance.java b/public/java/src/org/broadinstitute/sting/utils/locusiterator/LIBSPerformance.java index 8069ea29f..17d09c844 100644 --- a/public/java/src/org/broadinstitute/sting/utils/locusiterator/LIBSPerformance.java +++ b/public/java/src/org/broadinstitute/sting/utils/locusiterator/LIBSPerformance.java @@ -129,7 +129,7 @@ public class LIBSPerformance extends CommandLineProgram { // read.setReadBases(Utils.dupBytes((byte) 'A', readLength)); // final byte[] quals = new byte[readLength]; // for ( int i = 0; i < readLength; i++ ) -// quals[i] = (byte)(i % QualityUtils.MAX_QUAL_SCORE); +// quals[i] = (byte)(i % QualityUtils.MAX_SAM_QUAL_SCORE); // read.setBaseQualities(quals); // read.setCigarString(cigar); // diff --git a/public/java/src/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByState.java b/public/java/src/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByState.java index 435f9901a..eed29feca 100644 --- a/public/java/src/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByState.java +++ b/public/java/src/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByState.java @@ -28,13 +28,18 @@ package org.broadinstitute.sting.utils.locusiterator; import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import net.sf.samtools.CigarOperator; +import net.sf.samtools.SAMFileReader; +import net.sf.samtools.SAMRecordIterator; import org.apache.log4j.Logger; import org.broadinstitute.sting.gatk.ReadProperties; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.downsampling.DownsampleType; +import org.broadinstitute.sting.gatk.iterators.GATKSAMIterator; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; -import org.broadinstitute.sting.utils.pileup.*; +import org.broadinstitute.sting.utils.SampleUtils; +import org.broadinstitute.sting.utils.pileup.PileupElement; +import org.broadinstitute.sting.utils.pileup.ReadBackedPileupImpl; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.ReadUtils; @@ -136,6 +141,25 @@ public final class LocusIteratorByState extends LocusIterator { readInformation.keepUniqueReadListInLIBS()); } + /** + * Create a new LocusIteratorByState based on a SAMFileReader using reads in an iterator it + * + * Simple constructor that uses the samples in the reader, doesn't do any downsampling, + * and makes a new GenomeLocParser using the reader. This constructor will be slow(ish) + * if you continually invoke this constructor, but it's easy to make. + * + * @param reader a non-null reader + * @param it an iterator from reader that has the reads we want to use to create ReadBackPileups + */ + public LocusIteratorByState(final SAMFileReader reader, final SAMRecordIterator it) { + this(new GATKSAMIterator(it), + new LIBSDownsamplingInfo(false, 0), + true, + new GenomeLocParser(reader.getFileHeader().getSequenceDictionary()), + SampleUtils.getSAMFileSamples(reader.getFileHeader()), + false); + } + /** * Create a new LocusIteratorByState * @@ -149,7 +173,8 @@ public final class LocusIteratorByState extends LocusIterator { * be mapped to this null sample * @param maintainUniqueReadsList if true, we will keep the unique reads from off the samIterator and make them * available via the transferReadsFromAllPreviousPileups interface - */ protected LocusIteratorByState(final Iterator samIterator, + */ + protected LocusIteratorByState(final Iterator samIterator, final LIBSDownsamplingInfo downsamplingInfo, final boolean includeReadsWithDeletionAtLoci, final GenomeLocParser genomeLocParser, @@ -221,6 +246,29 @@ public final class LocusIteratorByState extends LocusIterator { return currentAlignmentContext; } + /** + * Move this LIBS until we are over position + * + * Will return null if cannot reach position (because we run out of data in the locus) + * + * @param position the start position of the AlignmentContext we want back + * @return a AlignmentContext at position, or null if this isn't possible + */ + public AlignmentContext advanceToLocus(final int position) { + while ( hasNext() ) { + final AlignmentContext context = next(); + + if ( context == null ) + // we ran out of data + return null; + + if ( context.getPosition() == position) + return context; + } + + return null; + } + /** * Creates the next alignment context from the given state. Note that this is implemented as a * lazy load method. nextAlignmentContext MUST BE null in order for this method to advance to the diff --git a/public/java/src/org/broadinstitute/sting/utils/pairhmm/ExactPairHMM.java b/public/java/src/org/broadinstitute/sting/utils/pairhmm/ExactPairHMM.java deleted file mode 100644 index 7a4fe50df..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/pairhmm/ExactPairHMM.java +++ /dev/null @@ -1,132 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.sting.utils.pairhmm; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broadinstitute.sting.utils.MathUtils; -import org.broadinstitute.sting.utils.QualityUtils; - -import java.util.ArrayList; -import java.util.Arrays; - -/** - * Created with IntelliJ IDEA. - * User: rpoplin - * Date: 10/16/12 - */ - -public class ExactPairHMM extends PairHMM { - - @Override - public void initialize( final int READ_MAX_LENGTH, final int HAPLOTYPE_MAX_LENGTH ) { - - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = READ_MAX_LENGTH + 2; - final int Y_METRIC_LENGTH = HAPLOTYPE_MAX_LENGTH + 2; - - matchMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - XMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - YMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; - - for( int iii=0; iii < X_METRIC_LENGTH; iii++ ) { - Arrays.fill(matchMetricArray[iii], Double.NEGATIVE_INFINITY); - Arrays.fill(XMetricArray[iii], Double.NEGATIVE_INFINITY); - Arrays.fill(YMetricArray[iii], Double.NEGATIVE_INFINITY); - } - - // the initial condition - matchMetricArray[1][1] = 0.0; // Math.log10(1.0); - } - - @Override - public double computeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, - final byte[] readBases, - final byte[] readQuals, - final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP, - final int hapStartIndex, - final boolean recacheReadValues ) { - - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = readBases.length + 2; - final int Y_METRIC_LENGTH = haplotypeBases.length + 2; - - // ensure that all the qual scores have valid values - for( int iii = 0; iii < readQuals.length; iii++ ) { - readQuals[iii] = ( readQuals[iii] < QualityUtils.MIN_USABLE_Q_SCORE ? QualityUtils.MIN_USABLE_Q_SCORE : (readQuals[iii] > MAX_CACHED_QUAL ? MAX_CACHED_QUAL : readQuals[iii]) ); - } - - // simple rectangular version of update loop, slow - for( int iii = 1; iii < X_METRIC_LENGTH; iii++ ) { - for( int jjj = hapStartIndex + 1; jjj < Y_METRIC_LENGTH; jjj++ ) { - if( (iii == 1 && jjj == 1) ) { continue; } - updateCell(iii, jjj, haplotypeBases, readBases, readQuals, insertionGOP, deletionGOP, overallGCP, - matchMetricArray, XMetricArray, YMetricArray); - } - } - - // final probability is the log10 sum of the last element in all three state arrays - final int endI = X_METRIC_LENGTH - 1; - final int endJ = Y_METRIC_LENGTH - 1; - return MathUtils.log10sumLog10(new double[]{matchMetricArray[endI][endJ], XMetricArray[endI][endJ], YMetricArray[endI][endJ]}); - } - - private void updateCell( final int indI, final int indJ, final byte[] haplotypeBases, final byte[] readBases, - final byte[] readQuals, final byte[] insertionGOP, final byte[] deletionGOP, final byte[] overallGCP, - final double[][] matchMetricArray, final double[][] XMetricArray, final double[][] YMetricArray ) { - - // the read and haplotype indices are offset by one because the state arrays have an extra column to hold the initial conditions - final int im1 = indI - 1; - final int jm1 = indJ - 1; - - // update the match array - double pBaseReadLog10 = 0.0; // Math.log10(1.0); - if( im1 > 0 && jm1 > 0 ) { // the emission probability is applied when leaving the state - final byte x = readBases[im1-1]; - final byte y = haplotypeBases[jm1-1]; - final byte qual = readQuals[im1-1]; - pBaseReadLog10 = ( x == y || x == (byte) 'N' || y == (byte) 'N' ? QualityUtils.qualToProbLog10(qual) : QualityUtils.qualToErrorProbLog10(qual) ); - } - final int qualIndexGOP = ( im1 == 0 ? DEFAULT_GOP + DEFAULT_GOP : ( insertionGOP[im1-1] + deletionGOP[im1-1] > MAX_CACHED_QUAL ? MAX_CACHED_QUAL : insertionGOP[im1-1] + deletionGOP[im1-1]) ); - final double d0 = QualityUtils.qualToProbLog10((byte)qualIndexGOP); - final double e0 = ( im1 == 0 ? QualityUtils.qualToProbLog10(DEFAULT_GCP) : QualityUtils.qualToProbLog10(overallGCP[im1-1]) ); - matchMetricArray[indI][indJ] = pBaseReadLog10 + MathUtils.log10sumLog10(new double[]{matchMetricArray[indI-1][indJ-1] + d0, XMetricArray[indI-1][indJ-1] + e0, YMetricArray[indI-1][indJ-1] + e0}); - - // update the X (insertion) array - final double d1 = ( im1 == 0 ? QualityUtils.qualToErrorProbLog10(DEFAULT_GOP) : QualityUtils.qualToErrorProbLog10(insertionGOP[im1-1]) ); - final double e1 = ( im1 == 0 ? QualityUtils.qualToErrorProbLog10(DEFAULT_GCP) : QualityUtils.qualToErrorProbLog10(overallGCP[im1-1]) ); - final double qBaseReadLog10 = 0.0; // Math.log10(1.0) -- we don't have an estimate for this emission probability so assume q=1.0 - XMetricArray[indI][indJ] = qBaseReadLog10 + MathUtils.log10sumLog10(new double[]{matchMetricArray[indI-1][indJ] + d1, XMetricArray[indI-1][indJ] + e1}); - - // update the Y (deletion) array, with penalty of zero on the left and right flanks to allow for a local alignment within the haplotype - final double d2 = ( im1 == 0 || im1 == readBases.length ? 0.0 : QualityUtils.qualToErrorProbLog10(deletionGOP[im1-1]) ); - final double e2 = ( im1 == 0 || im1 == readBases.length ? 0.0 : QualityUtils.qualToErrorProbLog10(overallGCP[im1-1]) ); - final double qBaseRefLog10 = 0.0; // Math.log10(1.0) -- we don't have an estimate for this emission probability so assume q=1.0 - YMetricArray[indI][indJ] = qBaseRefLog10 + MathUtils.log10sumLog10(new double[]{matchMetricArray[indI][indJ-1] + d2, YMetricArray[indI][indJ-1] + e2}); - } -} diff --git a/public/java/src/org/broadinstitute/sting/utils/pairhmm/Log10PairHMM.java b/public/java/src/org/broadinstitute/sting/utils/pairhmm/Log10PairHMM.java new file mode 100644 index 000000000..62793bc54 --- /dev/null +++ b/public/java/src/org/broadinstitute/sting/utils/pairhmm/Log10PairHMM.java @@ -0,0 +1,168 @@ +/* + * Copyright (c) 2012 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils.pairhmm; + +import com.google.java.contract.Requires; +import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.QualityUtils; + +import java.util.Arrays; + +/** + * Util class for performing the pair HMM for local alignment. Figure 4.3 in Durbin 1998 book. + * + * User: rpoplin + * Date: 3/1/12 + */ +public class Log10PairHMM extends PairHMM { + /** + * Should we use exact log10 calculation (true), or an approximation (false)? + */ + private final boolean doExactLog10; + + /** + * Create an uninitialized PairHMM + * + * @param doExactLog10 should the log10 calculations be exact (slow) or approximate (faster) + */ + public Log10PairHMM(final boolean doExactLog10) { + this.doExactLog10 = doExactLog10; + } + + /** + * Is this HMM using exact log10 calculations? + * @return true if exact, false if approximate + */ + public boolean isDoingExactLog10Calculations() { + return doExactLog10; + } + + /** + * {@inheritDoc} + */ + @Override + public void initialize( final int haplotypeMaxLength, final int readMaxLength) { + super.initialize(haplotypeMaxLength, readMaxLength); + + for( int iii=0; iii < X_METRIC_MAX_LENGTH; iii++ ) { + Arrays.fill(matchMetricArray[iii], Double.NEGATIVE_INFINITY); + Arrays.fill(XMetricArray[iii], Double.NEGATIVE_INFINITY); + Arrays.fill(YMetricArray[iii], Double.NEGATIVE_INFINITY); + } + } + + /** + * {@inheritDoc} + */ + @Override + public double subComputeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, + final byte[] readBases, + final byte[] readQuals, + final byte[] insertionGOP, + final byte[] deletionGOP, + final byte[] overallGCP, + final int hapStartIndex, + final boolean recacheReadValues ) { + // the initial condition -- must be in subComputeReadLikelihoodGivenHaplotypeLog10 because it needs that actual + // read and haplotypes, not the maximum + matchMetricArray[1][1] = getNPotentialXStartsLikelihoodPenaltyLog10(haplotypeBases.length, readBases.length); + + // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment + final int X_METRIC_LENGTH = readBases.length + 2; + final int Y_METRIC_LENGTH = haplotypeBases.length + 2; + + // ensure that all the qual scores have valid values + for( int iii = 0; iii < readQuals.length; iii++ ) { + readQuals[iii] = ( readQuals[iii] < QualityUtils.MIN_USABLE_Q_SCORE ? QualityUtils.MIN_USABLE_Q_SCORE : (readQuals[iii] > MAX_CACHED_QUAL ? MAX_CACHED_QUAL : readQuals[iii]) ); + } + + // simple rectangular version of update loop, slow + for( int iii = 1; iii < X_METRIC_LENGTH; iii++ ) { + for( int jjj = hapStartIndex + 1; jjj < Y_METRIC_LENGTH; jjj++ ) { + if( (iii == 1 && jjj == 1) ) { continue; } + updateCell(iii, jjj, haplotypeBases, readBases, readQuals, insertionGOP, deletionGOP, overallGCP, + matchMetricArray, XMetricArray, YMetricArray); + } + } + + // final probability is the log10 sum of the last element in all three state arrays + final int endI = X_METRIC_LENGTH - 1; + final int endJ = Y_METRIC_LENGTH - 1; + return myLog10SumLog10(new double[]{matchMetricArray[endI][endJ], XMetricArray[endI][endJ], YMetricArray[endI][endJ]}); + } + + /** + * Compute the log10SumLog10 of the values + * + * NOTE NOTE NOTE + * + * Log10PairHMM depends critically on this function tolerating values that are all -Infinity + * and the sum returning -Infinity. Note good. Needs to be fixed. + * + * NOTE NOTE NOTE + * + * @param values an array of log10 probabilities that need to be summed + * @return the log10 of the sum of the probabilities + */ + @Requires("values != null") + private double myLog10SumLog10(final double[] values) { + return doExactLog10 ? MathUtils.log10sumLog10(values) : MathUtils.approximateLog10SumLog10(values); + } + + private void updateCell( final int indI, final int indJ, final byte[] haplotypeBases, final byte[] readBases, + final byte[] readQuals, final byte[] insertionGOP, final byte[] deletionGOP, final byte[] overallGCP, + final double[][] matchMetricArray, final double[][] XMetricArray, final double[][] YMetricArray ) { + + // the read and haplotype indices are offset by one because the state arrays have an extra column to hold the initial conditions + final int im1 = indI - 1; + final int jm1 = indJ - 1; + + // update the match array + double pBaseReadLog10 = 0.0; // Math.log10(1.0); + if( im1 > 0 && jm1 > 0 ) { // the emission probability is applied when leaving the state + final byte x = readBases[im1-1]; + final byte y = haplotypeBases[jm1-1]; + final byte qual = readQuals[im1-1]; + pBaseReadLog10 = ( x == y || x == (byte) 'N' || y == (byte) 'N' ? QualityUtils.qualToProbLog10(qual) : QualityUtils.qualToErrorProbLog10(qual) ); + } + final int qualIndexGOP = ( im1 == 0 ? DEFAULT_GOP + DEFAULT_GOP : ( insertionGOP[im1-1] + deletionGOP[im1-1] > MAX_CACHED_QUAL ? MAX_CACHED_QUAL : insertionGOP[im1-1] + deletionGOP[im1-1]) ); + final double d0 = QualityUtils.qualToProbLog10((byte)qualIndexGOP); + final double e0 = ( im1 == 0 ? QualityUtils.qualToProbLog10(DEFAULT_GCP) : QualityUtils.qualToProbLog10(overallGCP[im1-1]) ); + matchMetricArray[indI][indJ] = pBaseReadLog10 + myLog10SumLog10(new double[]{matchMetricArray[indI - 1][indJ - 1] + d0, XMetricArray[indI - 1][indJ - 1] + e0, YMetricArray[indI - 1][indJ - 1] + e0}); + + // update the X (insertion) array + final double d1 = ( im1 == 0 ? QualityUtils.qualToErrorProbLog10(DEFAULT_GOP) : QualityUtils.qualToErrorProbLog10(insertionGOP[im1-1]) ); + final double e1 = ( im1 == 0 ? QualityUtils.qualToErrorProbLog10(DEFAULT_GCP) : QualityUtils.qualToErrorProbLog10(overallGCP[im1-1]) ); + final double qBaseReadLog10 = 0.0; // Math.log10(1.0) -- we don't have an estimate for this emission probability so assume q=1.0 + XMetricArray[indI][indJ] = qBaseReadLog10 + myLog10SumLog10(new double[]{matchMetricArray[indI - 1][indJ] + d1, XMetricArray[indI - 1][indJ] + e1}); + + // update the Y (deletion) array, with penalty of zero on the left and right flanks to allow for a local alignment within the haplotype + final double d2 = ( im1 == 0 || im1 == readBases.length ? 0.0 : QualityUtils.qualToErrorProbLog10(deletionGOP[im1-1]) ); + final double e2 = ( im1 == 0 || im1 == readBases.length ? 0.0 : QualityUtils.qualToErrorProbLog10(overallGCP[im1-1]) ); + final double qBaseRefLog10 = 0.0; // Math.log10(1.0) -- we don't have an estimate for this emission probability so assume q=1.0 + YMetricArray[indI][indJ] = qBaseRefLog10 + myLog10SumLog10(new double[]{matchMetricArray[indI][indJ - 1] + d2, YMetricArray[indI][indJ - 1] + e2}); + } +} diff --git a/public/java/src/org/broadinstitute/sting/utils/pairhmm/OriginalPairHMM.java b/public/java/src/org/broadinstitute/sting/utils/pairhmm/OriginalPairHMM.java deleted file mode 100644 index 6b283dd01..000000000 --- a/public/java/src/org/broadinstitute/sting/utils/pairhmm/OriginalPairHMM.java +++ /dev/null @@ -1,106 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.sting.utils.pairhmm; - -import org.broadinstitute.sting.utils.MathUtils; -import org.broadinstitute.sting.utils.QualityUtils; - -/** - * Util class for performing the pair HMM for local alignment. Figure 4.3 in Durbin 1998 book. - * User: rpoplin - * Date: 3/1/12 - */ - -public class OriginalPairHMM extends ExactPairHMM { - - @Override - public double computeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, - final byte[] readBases, - final byte[] readQuals, - final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP, - final int hapStartIndex, - final boolean recacheReadValues ) { - - // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment - final int X_METRIC_LENGTH = readBases.length + 2; - final int Y_METRIC_LENGTH = haplotypeBases.length + 2; - - // ensure that all the qual scores have valid values - for( int iii = 0; iii < readQuals.length; iii++ ) { - readQuals[iii] = ( readQuals[iii] < QualityUtils.MIN_USABLE_Q_SCORE ? QualityUtils.MIN_USABLE_Q_SCORE : (readQuals[iii] > MAX_CACHED_QUAL ? MAX_CACHED_QUAL : readQuals[iii]) ); - } - - // simple rectangular version of update loop, slow - for( int iii = 1; iii < X_METRIC_LENGTH; iii++ ) { - for( int jjj = hapStartIndex + 1; jjj < Y_METRIC_LENGTH; jjj++ ) { - if( (iii == 1 && jjj == 1) ) { continue; } - updateCell(iii, jjj, haplotypeBases, readBases, readQuals, insertionGOP, deletionGOP, overallGCP, - matchMetricArray, XMetricArray, YMetricArray); - } - } - - // final probability is the log10 sum of the last element in all three state arrays - final int endI = X_METRIC_LENGTH - 1; - final int endJ = Y_METRIC_LENGTH - 1; - return MathUtils.approximateLog10SumLog10(matchMetricArray[endI][endJ], XMetricArray[endI][endJ], YMetricArray[endI][endJ]); - } - - private void updateCell( final int indI, final int indJ, final byte[] haplotypeBases, final byte[] readBases, - final byte[] readQuals, final byte[] insertionGOP, final byte[] deletionGOP, final byte[] overallGCP, - final double[][] matchMetricArray, final double[][] XMetricArray, final double[][] YMetricArray ) { - - // the read and haplotype indices are offset by one because the state arrays have an extra column to hold the initial conditions - final int im1 = indI - 1; - final int jm1 = indJ - 1; - - // update the match array - double pBaseReadLog10 = 0.0; // Math.log10(1.0); - if( im1 > 0 && jm1 > 0 ) { // the emission probability is applied when leaving the state - final byte x = readBases[im1-1]; - final byte y = haplotypeBases[jm1-1]; - final byte qual = readQuals[im1-1]; - pBaseReadLog10 = ( x == y || x == (byte) 'N' || y == (byte) 'N' ? QualityUtils.qualToProbLog10(qual) : QualityUtils.qualToErrorProbLog10(qual) ); - } - final int qualIndexGOP = ( im1 == 0 ? DEFAULT_GOP + DEFAULT_GOP : ( insertionGOP[im1-1] + deletionGOP[im1-1] > MAX_CACHED_QUAL ? MAX_CACHED_QUAL : insertionGOP[im1-1] + deletionGOP[im1-1]) ); - final double d0 = QualityUtils.qualToProbLog10((byte)qualIndexGOP); - final double e0 = ( im1 == 0 ? QualityUtils.qualToProbLog10(DEFAULT_GCP) : QualityUtils.qualToProbLog10(overallGCP[im1-1]) ); - matchMetricArray[indI][indJ] = pBaseReadLog10 + MathUtils.approximateLog10SumLog10(matchMetricArray[indI-1][indJ-1] + d0, XMetricArray[indI-1][indJ-1] + e0, YMetricArray[indI-1][indJ-1] + e0); - - // update the X (insertion) array - final double d1 = ( im1 == 0 ? QualityUtils.qualToErrorProbLog10(DEFAULT_GOP) : QualityUtils.qualToErrorProbLog10(insertionGOP[im1-1]) ); - final double e1 = ( im1 == 0 ? QualityUtils.qualToErrorProbLog10(DEFAULT_GCP) : QualityUtils.qualToErrorProbLog10(overallGCP[im1-1]) ); - final double qBaseReadLog10 = 0.0; // Math.log10(1.0) -- we don't have an estimate for this emission probability so assume q=1.0 - XMetricArray[indI][indJ] = qBaseReadLog10 + MathUtils.approximateLog10SumLog10(matchMetricArray[indI-1][indJ] + d1, XMetricArray[indI-1][indJ] + e1); - - // update the Y (deletion) array, with penalty of zero on the left and right flanks to allow for a local alignment within the haplotype - final double d2 = ( im1 == 0 || im1 == readBases.length ? 0.0 : QualityUtils.qualToErrorProbLog10(deletionGOP[im1-1]) ); - final double e2 = ( im1 == 0 || im1 == readBases.length ? 0.0 : QualityUtils.qualToErrorProbLog10(overallGCP[im1-1]) ); - final double qBaseRefLog10 = 0.0; // Math.log10(1.0) -- we don't have an estimate for this emission probability so assume q=1.0 - YMetricArray[indI][indJ] = qBaseRefLog10 + MathUtils.approximateLog10SumLog10(matchMetricArray[indI][indJ-1] + d2, YMetricArray[indI][indJ-1] + e2); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/utils/pairhmm/PairHMM.java b/public/java/src/org/broadinstitute/sting/utils/pairhmm/PairHMM.java index 151fffaac..e590d1df8 100644 --- a/public/java/src/org/broadinstitute/sting/utils/pairhmm/PairHMM.java +++ b/public/java/src/org/broadinstitute/sting/utils/pairhmm/PairHMM.java @@ -27,14 +27,18 @@ package org.broadinstitute.sting.utils.pairhmm; import com.google.java.contract.Ensures; import com.google.java.contract.Requires; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.utils.MathUtils; /** - * Created with IntelliJ IDEA. + * Util class for performing the pair HMM for local alignment. Figure 4.3 in Durbin 1998 book. + * * User: rpoplin * Date: 10/16/12 */ - public abstract class PairHMM { + protected final static Logger logger = Logger.getLogger(PairHMM.class); + protected static final Byte MAX_CACHED_QUAL = Byte.MAX_VALUE; protected static final byte DEFAULT_GOP = (byte) 45; protected static final byte DEFAULT_GCP = (byte) 10; @@ -44,8 +48,6 @@ public abstract class PairHMM { EXACT, /* PairHMM as implemented for the UnifiedGenotyper. Uses log10 sum functions accurate to only 1E-4 */ ORIGINAL, - /* Optimized version of the PairHMM which caches per-read computations */ - CACHING, /* Optimized version of the PairHMM which caches per-read computations and operations in real space to avoid costly sums of log10'ed likelihoods */ LOGLESS_CACHING } @@ -53,18 +55,172 @@ public abstract class PairHMM { protected double[][] matchMetricArray = null; protected double[][] XMetricArray = null; protected double[][] YMetricArray = null; + protected int maxHaplotypeLength, maxReadLength; + protected int X_METRIC_MAX_LENGTH, Y_METRIC_MAX_LENGTH; + private boolean initialized = false; - public abstract void initialize( final int READ_MAX_LENGTH, final int HAPLOTYPE_MAX_LENGTH ); + /** + * Initialize this PairHMM, making it suitable to run against a read and haplotype with given lengths + * @param haplotypeMaxLength the max length of haplotypes we want to use with this PairHMM + * @param readMaxLength the max length of reads we want to use with this PairHMM + */ + public void initialize( final int haplotypeMaxLength, final int readMaxLength ) { + if ( readMaxLength <= 0 ) throw new IllegalArgumentException("READ_MAX_LENGTH must be > 0 but got " + readMaxLength); + if ( haplotypeMaxLength <= 0 ) throw new IllegalArgumentException("HAPLOTYPE_MAX_LENGTH must be > 0 but got " + haplotypeMaxLength); + maxHaplotypeLength = haplotypeMaxLength; + maxReadLength = readMaxLength; + + // M, X, and Y arrays are of size read and haplotype + 1 because of an extra column for initial conditions and + 1 to consider the final base in a non-global alignment + X_METRIC_MAX_LENGTH = readMaxLength + 2; + Y_METRIC_MAX_LENGTH = haplotypeMaxLength + 2; + + matchMetricArray = new double[X_METRIC_MAX_LENGTH][Y_METRIC_MAX_LENGTH]; + XMetricArray = new double[X_METRIC_MAX_LENGTH][Y_METRIC_MAX_LENGTH]; + YMetricArray = new double[X_METRIC_MAX_LENGTH][Y_METRIC_MAX_LENGTH]; + initialized = true; + } + + /** + * Compute the total probability of read arising from haplotypeBases given base substitution, insertion, and deletion + * probabilities. + * + * Note on using hapStartIndex. This allows you to compute the exact true likelihood of a full haplotypes + * given a read, assuming that the previous calculation read over a full haplotype, recaching the read values, + * starting only at the place where the new haplotype bases and the previous haplotype bases different. This + * index is 0-based, and can be computed with findFirstPositionWhereHaplotypesDiffer given the two haplotypes. + * Note that this assumes that the read and all associated quals values are the same. + * + * @param haplotypeBases the full sequence (in standard SAM encoding) of the haplotype, must be >= than read bases in length + * @param readBases the bases (in standard encoding) of the read, must be <= haplotype bases in length + * @param readQuals the phred-scaled per base substitition quality scores of read. Must be the same length as readBases + * @param insertionGOP the phred-scaled per base insertion quality scores of read. Must be the same length as readBases + * @param deletionGOP the phred-scaled per base deletion quality scores of read. Must be the same length as readBases + * @param overallGCP the phred-scaled gap continuation penalties scores of read. Must be the same length as readBases + * @param hapStartIndex start the hmm calculation at this offset in haplotype bases. Used in the caching calculation + * where multiple haplotypes are used, and they only diff starting at hapStartIndex + * @param recacheReadValues if false, we don't recalculate any cached results, assuming that readBases and its associated + * parameters are the same, and only the haplotype bases are changing underneath us + * @return the log10 probability of read coming from the haplotype under the provided error model + */ + public final double computeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, + final byte[] readBases, + final byte[] readQuals, + final byte[] insertionGOP, + final byte[] deletionGOP, + final byte[] overallGCP, + final int hapStartIndex, + final boolean recacheReadValues ) { + if ( ! initialized ) throw new IllegalStateException("Must call initialize before calling computeReadLikelihoodGivenHaplotypeLog10"); + if ( haplotypeBases == null ) throw new IllegalArgumentException("haplotypeBases cannot be null"); + if ( haplotypeBases.length > maxHaplotypeLength ) throw new IllegalArgumentException("Haplotype bases is too long, got " + haplotypeBases.length + " but max is " + maxHaplotypeLength); + if ( readBases == null ) throw new IllegalArgumentException("readBases cannot be null"); + if ( readBases.length > maxReadLength ) throw new IllegalArgumentException("readBases is too long, got " + readBases.length + " but max is " + maxReadLength); + if ( readQuals.length != readBases.length ) throw new IllegalArgumentException("Read bases and read quals aren't the same size: " + readBases.length + " vs " + readQuals.length); + if ( insertionGOP.length != readBases.length ) throw new IllegalArgumentException("Read bases and read insertion quals aren't the same size: " + readBases.length + " vs " + insertionGOP.length); + if ( deletionGOP.length != readBases.length ) throw new IllegalArgumentException("Read bases and read deletion quals aren't the same size: " + readBases.length + " vs " + deletionGOP.length); + if ( overallGCP.length != readBases.length ) throw new IllegalArgumentException("Read bases and overall GCP aren't the same size: " + readBases.length + " vs " + overallGCP.length); + if ( hapStartIndex < 0 || hapStartIndex > haplotypeBases.length ) throw new IllegalArgumentException("hapStartIndex is bad, must be between 0 and haplotype length " + haplotypeBases.length + " but got " + hapStartIndex); + + final double result = subComputeReadLikelihoodGivenHaplotypeLog10(haplotypeBases, readBases, readQuals, insertionGOP, deletionGOP, overallGCP, hapStartIndex, recacheReadValues); + + if ( MathUtils.goodLog10Probability(result) ) + return result; + else + throw new IllegalStateException("Bad likelihoods detected: " + result); +// return result; + } + + /** + * To be overloaded by subclasses to actually do calculation for #computeReadLikelihoodGivenHaplotypeLog10 + */ @Requires({"readBases.length == readQuals.length", "readBases.length == insertionGOP.length", "readBases.length == deletionGOP.length", "readBases.length == overallGCP.length", "matchMetricArray!=null", "XMetricArray!=null", "YMetricArray!=null"}) - @Ensures({"!Double.isInfinite(result)", "!Double.isNaN(result)"}) // Result should be a proper log10 likelihood - public abstract double computeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, - final byte[] readBases, - final byte[] readQuals, - final byte[] insertionGOP, - final byte[] deletionGOP, - final byte[] overallGCP, - final int hapStartIndex, - final boolean recacheReadValues ); + protected abstract double subComputeReadLikelihoodGivenHaplotypeLog10( final byte[] haplotypeBases, + final byte[] readBases, + final byte[] readQuals, + final byte[] insertionGOP, + final byte[] deletionGOP, + final byte[] overallGCP, + final int hapStartIndex, + final boolean recacheReadValues ); + + /** + * How many potential starting locations are a read with readSize bases against a haplotype with haplotypeSize bases? + * + * for example, a 3 bp read against a 5 bp haplotype could potentially start at 1, 2, 3 = 5 - 3 + 1 = 3 + * the max value is necessary in the case where the read is longer than the haplotype, in which case + * there's a single unique start site by assumption + * + * @param haplotypeSize the number of bases in the haplotype we are testing + * @param readSize the number of bases in the read we are testing + * @return a positive integer >= 1 + */ + @Ensures("result >= 1") + protected int getNPotentialXStarts(final int haplotypeSize, final int readSize) { + return Math.max(haplotypeSize - readSize + 1, 1); + } + + /** + * The the log10 probability penalty for the number of potential start sites of the read aginst the haplotype + * + * @param haplotypeSize the number of bases in the haplotype we are testing + * @param readSize the number of bases in the read we are testing + * @return a log10 probability + */ + @Ensures("MathUtils.goodLog10Probability(result)") + protected double getNPotentialXStartsLikelihoodPenaltyLog10(final int haplotypeSize, final int readSize) { + return - Math.log10(getNPotentialXStarts(haplotypeSize, readSize)); + } + + /** + * Print out the core hmm matrices for debugging + */ + protected void dumpMatrices() { + dumpMatrix("matchMetricArray", matchMetricArray); + dumpMatrix("XMetricArray", XMetricArray); + dumpMatrix("YMetricArray", YMetricArray); + } + + /** + * Print out in a human readable form the matrix for debugging + * @param name the name of this matrix + * @param matrix the matrix of values + */ + @Requires({"name != null", "matrix != null"}) + private void dumpMatrix(final String name, final double[][] matrix) { + System.out.printf("%s%n", name); + for ( int i = 0; i < matrix.length; i++) { + System.out.printf("\t%s[%d]", name, i); + for ( int j = 0; j < matrix[i].length; j++ ) { + if ( Double.isInfinite(matrix[i][j]) ) + System.out.printf(" %15s", String.format("%f", matrix[i][j])); + else + System.out.printf(" % 15.5e", matrix[i][j]); + } + System.out.println(); + } + } + + /** + * Compute the first position at which two haplotypes differ + * + * If the haplotypes are exact copies of each other, returns the min length of the two haplotypes. + * + * @param haplotype1 the first haplotype1 + * @param haplotype2 the second haplotype1 + * @return the index of the first position in haplotype1 and haplotype2 where the byte isn't the same + */ + public static int findFirstPositionWhereHaplotypesDiffer(final byte[] haplotype1, final byte[] haplotype2) { + if ( haplotype1 == null || haplotype1.length == 0 ) throw new IllegalArgumentException("Haplotype1 is bad " + haplotype1); + if ( haplotype2 == null || haplotype2.length == 0 ) throw new IllegalArgumentException("Haplotype2 is bad " + haplotype2); + + for( int iii = 0; iii < haplotype1.length && iii < haplotype2.length; iii++ ) { + if( haplotype1[iii] != haplotype2[iii] ) { + return iii; + } + } + + return Math.min(haplotype1.length, haplotype2.length); + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/progressmeter/ProgressMeter.java b/public/java/src/org/broadinstitute/sting/utils/progressmeter/ProgressMeter.java index feeaccf07..f76490552 100644 --- a/public/java/src/org/broadinstitute/sting/utils/progressmeter/ProgressMeter.java +++ b/public/java/src/org/broadinstitute/sting/utils/progressmeter/ProgressMeter.java @@ -154,6 +154,8 @@ public class ProgressMeter { /** * Create a new ProgressMeter * + * Note that progress meter isn't started until the client calls start() + * * @param performanceLogFile an optional performance log file where a table of performance logs will be written * @param processingUnitName the name of the unit type being processed, suitable for saying X seconds per processingUnitName * @param processingIntervals the intervals being processed @@ -193,7 +195,6 @@ public class ProgressMeter { // start up the timer progressMeterDaemon = new ProgressMeterDaemon(this, pollingFrequency); - start(); } public ProgressMeterDaemon getProgressMeterDaemon() { @@ -205,7 +206,7 @@ public class ProgressMeter { * daemon thread for periodic printing. */ @Requires("progressMeterDaemon != null") - private synchronized void start() { + public synchronized void start() { timer.start(); lastProgressPrintTime = timer.currentTime(); diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java b/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java index f29721a7e..d59d0ef63 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/AlignmentUtils.java @@ -31,20 +31,17 @@ import net.sf.samtools.Cigar; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; import net.sf.samtools.SAMRecord; -import org.broadinstitute.sting.gatk.contexts.ReferenceContext; +import org.apache.log4j.Logger; import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.pileup.PileupElement; -import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.recalibration.EventType; -import java.util.ArrayList; -import java.util.Arrays; -import java.util.EnumSet; -import java.util.List; +import java.util.*; public final class AlignmentUtils { + private final static Logger logger = Logger.getLogger(AlignmentUtils.class); private final static EnumSet ALIGNED_TO_GENOME_OPERATORS = EnumSet.of(CigarOperator.M, CigarOperator.EQ, CigarOperator.X); private final static EnumSet ALIGNED_TO_GENOME_PLUS_SOFTCLIPS = EnumSet.of(CigarOperator.M, CigarOperator.EQ, CigarOperator.X, CigarOperator.S); @@ -56,34 +53,61 @@ public final class AlignmentUtils { public long mismatchQualities = 0; } - public static long mismatchingQualities(SAMRecord r, byte[] refSeq, int refIndex) { + public static long mismatchingQualities(GATKSAMRecord r, byte[] refSeq, int refIndex) { return getMismatchCount(r, refSeq, refIndex).mismatchQualities; } - public static MismatchCount getMismatchCount(SAMRecord r, byte[] refSeq, int refIndex) { + /** + * @see #getMismatchCount(GATKSAMRecord, byte[], int, int, int) with startOnRead == 0 and nReadBases == read.getReadLength() + */ + public static MismatchCount getMismatchCount(GATKSAMRecord r, byte[] refSeq, int refIndex) { return getMismatchCount(r, refSeq, refIndex, 0, r.getReadLength()); } // todo -- this code and mismatchesInRefWindow should be combined and optimized into a single // todo -- high performance implementation. We can do a lot better than this right now - public static MismatchCount getMismatchCount(SAMRecord r, byte[] refSeq, int refIndex, int startOnRead, int nReadBases) { + + /** + * Count how many bases mismatch the reference. Indels are not considered mismatching. + * + * @param r the sam record to check against + * @param refSeq the byte array representing the reference sequence + * @param refIndex the index in the reference byte array of the read's first base (the reference index + * is matching the alignment start, there may be tons of soft-clipped bases before/after + * that so it's wrong to compare with getReadLength() here.). Note that refIndex is + * zero based, not 1 based + * @param startOnRead the index in the read's bases from which we start counting + * @param nReadBases the number of bases after (but including) startOnRead that we check + * @return non-null object representing the mismatch count + */ + @Ensures("result != null") + public static MismatchCount getMismatchCount(GATKSAMRecord r, byte[] refSeq, int refIndex, int startOnRead, int nReadBases) { + if ( r == null ) throw new IllegalArgumentException("attempting to calculate the mismatch count from a read that is null"); + if ( refSeq == null ) throw new IllegalArgumentException("attempting to calculate the mismatch count with a reference sequence that is null"); + if ( refIndex < 0 ) throw new IllegalArgumentException("attempting to calculate the mismatch count with a reference index that is negative"); + if ( startOnRead < 0 ) throw new IllegalArgumentException("attempting to calculate the mismatch count with a read start that is negative"); + if ( nReadBases < 0 ) throw new IllegalArgumentException("attempting to calculate the mismatch count for a negative number of read bases"); + if ( refSeq.length - refIndex < (r.getAlignmentEnd() - r.getAlignmentStart()) ) + throw new IllegalArgumentException("attempting to calculate the mismatch count against a reference string that is smaller than the read"); + MismatchCount mc = new MismatchCount(); int readIdx = 0; - int endOnRead = startOnRead + nReadBases - 1; // index of the last base on read we want to count - byte[] readSeq = r.getReadBases(); - Cigar c = r.getCigar(); - for (int i = 0; i < c.numCigarElements(); i++) { + final int endOnRead = startOnRead + nReadBases - 1; // index of the last base on read we want to count (note we are including soft-clipped bases with this math) + final byte[] readSeq = r.getReadBases(); + final Cigar c = r.getCigar(); + final byte[] readQuals = r.getBaseQualities(); + for (final CigarElement ce : c.getCigarElements()) { - if (readIdx > endOnRead) break; + if (readIdx > endOnRead) + break; - CigarElement ce = c.getCigarElement(i); final int elementLength = ce.getLength(); switch (ce.getOperator()) { case X: mc.numMismatches += elementLength; for (int j = 0; j < elementLength; j++) - mc.mismatchQualities += r.getBaseQualities()[readIdx+j]; + mc.mismatchQualities += readQuals[readIdx+j]; case EQ: refIndex += elementLength; readIdx += elementLength; @@ -91,7 +115,7 @@ public final class AlignmentUtils { case M: for (int j = 0; j < elementLength; j++, refIndex++, readIdx++) { if (refIndex >= refSeq.length) - continue; + continue; // TODO : It should never happen, we should throw exception here if (readIdx < startOnRead) continue; if (readIdx > endOnRead) break; byte refChr = refSeq[refIndex]; @@ -102,7 +126,7 @@ public final class AlignmentUtils { // continue; // do not count Ns/Xs/etc ? if (readChr != refChr) { mc.numMismatches++; - mc.mismatchQualities += r.getBaseQualities()[readIdx]; + mc.mismatchQualities += readQuals[readIdx]; } } break; @@ -241,7 +265,24 @@ public final class AlignmentUtils { return calcAlignmentByteArrayOffset( cigar, pileupElement.getOffset(), pileupElement.isDeletion(), alignmentStart, refLocus ); } + /** + * Calculate the index into the read's bases of the beginning of the encompassing cigar element for a given cigar and offset + * + * @param cigar the read's CIGAR -- cannot be null + * @param offset the offset to use for the calculation or -1 if in the middle of a deletion + * @param isDeletion are we in the middle of a deletion? + * @param alignmentStart the alignment start of the read + * @param refLocus the reference position of the offset + * @return a non-negative int index + */ + @Ensures("result >= 0") public static int calcAlignmentByteArrayOffset(final Cigar cigar, final int offset, final boolean isDeletion, final int alignmentStart, final int refLocus) { + if ( cigar == null ) throw new IllegalArgumentException("attempting to find the alignment position from a CIGAR that is null"); + if ( offset < -1 ) throw new IllegalArgumentException("attempting to find the alignment position with an offset that is negative (and not -1)"); + if ( alignmentStart < 0 ) throw new IllegalArgumentException("attempting to find the alignment position from an alignment start that is negative"); + if ( refLocus < 0 ) throw new IllegalArgumentException("attempting to find the alignment position from a reference position that is negative"); + if ( offset >= cigar.getReadLength() ) throw new IllegalArgumentException("attempting to find the alignment position of an offset than is larger than the read length"); + int pileupOffset = offset; // Reassign the offset if we are in the middle of a deletion because of the modified representation of the read bases @@ -262,7 +303,7 @@ public final class AlignmentUtils { switch (ce.getOperator()) { case I: - case S: + case S: // TODO -- I don't think that soft clips should be treated the same as inserted bases here. Investigation needed. pos += elementLength; if (pos >= pileupOffset) { return alignmentPos; @@ -302,32 +343,19 @@ public final class AlignmentUtils { return alignmentPos; } + /** + * Generate an array of bases for just those that are aligned to the reference (i.e. no clips or insertions) + * + * @param cigar the read's CIGAR -- cannot be null + * @param read the read's base array + * @return a non-null array of bases (bytes) + */ + @Ensures("result != null") public static byte[] readToAlignmentByteArray(final Cigar cigar, final byte[] read) { + if ( cigar == null ) throw new IllegalArgumentException("attempting to generate an alignment from a CIGAR that is null"); + if ( read == null ) throw new IllegalArgumentException("attempting to generate an alignment from a read sequence that is null"); - int alignmentLength = 0; - for (int iii = 0; iii < cigar.numCigarElements(); iii++) { - - final CigarElement ce = cigar.getCigarElement(iii); - final int elementLength = ce.getLength(); - - switch (ce.getOperator()) { - case D: - case N: - case M: - case EQ: - case X: - alignmentLength += elementLength; - break; - case I: - case S: - case H: - case P: - break; - default: - throw new ReviewedStingException("Unsupported cigar operator: " + ce.getOperator()); - } - } - + final int alignmentLength = cigar.getReferenceLength(); final byte[] alignment = new byte[alignmentLength]; int alignPos = 0; int readPos = 0; @@ -339,35 +367,31 @@ public final class AlignmentUtils { switch (ce.getOperator()) { case I: if (alignPos > 0) { - if (alignment[alignPos - 1] == BaseUtils.Base.A.base) { - alignment[alignPos - 1] = PileupElement.A_FOLLOWED_BY_INSERTION_BASE; - } else if (alignment[alignPos - 1] == BaseUtils.Base.C.base) { - alignment[alignPos - 1] = PileupElement.C_FOLLOWED_BY_INSERTION_BASE; - } else if (alignment[alignPos - 1] == BaseUtils.Base.T.base) { - alignment[alignPos - 1] = PileupElement.T_FOLLOWED_BY_INSERTION_BASE; - } else if (alignment[alignPos - 1] == BaseUtils.Base.G.base) { - alignment[alignPos - 1] = PileupElement.G_FOLLOWED_BY_INSERTION_BASE; + final int prevPos = alignPos - 1; + if (alignment[prevPos] == BaseUtils.Base.A.base) { + alignment[prevPos] = PileupElement.A_FOLLOWED_BY_INSERTION_BASE; + } else if (alignment[prevPos] == BaseUtils.Base.C.base) { + alignment[prevPos] = PileupElement.C_FOLLOWED_BY_INSERTION_BASE; + } else if (alignment[prevPos] == BaseUtils.Base.T.base) { + alignment[prevPos] = PileupElement.T_FOLLOWED_BY_INSERTION_BASE; + } else if (alignment[prevPos] == BaseUtils.Base.G.base) { + alignment[prevPos] = PileupElement.G_FOLLOWED_BY_INSERTION_BASE; } } case S: - for (int jjj = 0; jjj < elementLength; jjj++) { - readPos++; - } + readPos += elementLength; break; case D: case N: for (int jjj = 0; jjj < elementLength; jjj++) { - alignment[alignPos] = PileupElement.DELETION_BASE; - alignPos++; + alignment[alignPos++] = PileupElement.DELETION_BASE; } break; case M: case EQ: case X: for (int jjj = 0; jjj < elementLength; jjj++) { - alignment[alignPos] = read[readPos]; - alignPos++; - readPos++; + alignment[alignPos++] = read[readPos++]; } break; case H: @@ -407,20 +431,23 @@ public final class AlignmentUtils { * @return true if read is unmapped */ public static boolean isReadUnmapped(final SAMRecord r) { - if ( r == null ) throw new IllegalArgumentException("Read cannot be null"); + if ( r == null ) + throw new IllegalArgumentException("Read cannot be null"); - if (r.getReadUnmappedFlag()) return true; + return r.getReadUnmappedFlag() || + !((r.getReferenceIndex() != null && r.getReferenceIndex() != SAMRecord.NO_ALIGNMENT_REFERENCE_INDEX || + r.getReferenceName() != null && !r.getReferenceName().equals(SAMRecord.NO_ALIGNMENT_REFERENCE_NAME)) && + r.getAlignmentStart() != SAMRecord.NO_ALIGNMENT_START); - if ((r.getReferenceIndex() != null && r.getReferenceIndex() != SAMRecord.NO_ALIGNMENT_REFERENCE_INDEX - || r.getReferenceName() != null && !r.getReferenceName().equals(SAMRecord.NO_ALIGNMENT_REFERENCE_NAME)) - && r.getAlignmentStart() != SAMRecord.NO_ALIGNMENT_START) return false; - return true; } /** * Need a well-formed, consolidated Cigar string so that the left aligning code works properly. * For example, 1M1M1M1D2M1M --> 3M1D3M * If the given cigar is empty then the returned cigar will also be empty + * + * Note that this routine collapses cigar elements of size 0, so 2M0M => 2M + * * @param c the cigar to consolidate * @return a non-null cigar with consecutive matching operators merged into single operators. */ @@ -431,13 +458,25 @@ public final class AlignmentUtils { final Cigar returnCigar = new Cigar(); int sumLength = 0; - for( int iii = 0; iii < c.numCigarElements(); iii++ ) { - sumLength += c.getCigarElement(iii).getLength(); - if( iii == c.numCigarElements() - 1 || !c.getCigarElement(iii).getOperator().equals(c.getCigarElement(iii+1).getOperator())) { // at the end so finish the current element - returnCigar.add(new CigarElement(sumLength, c.getCigarElement(iii).getOperator())); + CigarElement lastElement = null; + + for( final CigarElement cur : c.getCigarElements() ) { + if ( cur.getLength() == 0 ) + continue; // don't add elements of 0 length + + if ( lastElement != null && lastElement.getOperator() != cur.getOperator() ) { + returnCigar.add(new CigarElement(sumLength, lastElement.getOperator())); sumLength = 0; } + + sumLength += cur.getLength(); + lastElement = cur; } + + if( sumLength > 0 ) { + returnCigar.add(new CigarElement(sumLength, lastElement.getOperator())); + } + return returnCigar; } @@ -450,34 +489,98 @@ public final class AlignmentUtils { * should be the position where the alignment of that part of the read starts at. In other words, both refIndex and readIndex are * always the positions where the cigar starts on the ref and on the read, respectively. *

    - * If the alignment has an indel, then this method attempts moving this indel left across a stretch of repetitive bases. For instance, if the original cigar - * specifies that (any) one AT is deleted from a repeat sequence TATATATA, the output cigar will always mark the leftmost AT - * as deleted. If there is no indel in the original cigar, or the indel position is determined unambiguously (i.e. inserted/deleted sequence - * is not repeated), the original cigar is returned. + * If the alignment has one or more indels, this method attempts to move them left across a stretch of repetitive bases. + * For instance, if the original cigar specifies that (any) one AT is deleted from a repeat sequence TATATATA, the output + * cigar will always mark the leftmost AT as deleted. If there is no indel in the original cigar or if the indel position + * is determined unambiguously (i.e. inserted/deleted sequence is not repeated), the original cigar is returned. + * + * Note that currently we do not actually support the case where there is more than one indel in the alignment. We will throw + * an exception if there is -- unless the * * @param cigar structure of the original alignment * @param refSeq reference sequence the read is aligned to * @param readSeq read sequence * @param refIndex 0-based alignment start position on ref * @param readIndex 0-based alignment start position on read - * @return a cigar, in which indel is guaranteed to be placed at the leftmost possible position across a repeat (if any) + * @param doNotThrowExceptionForMultipleIndels if true we will not throw an exception if we encounter multiple indels in the alignment will instead will return the original cigar + * @return a non-null cigar, in which the indels are guaranteed to be placed at the leftmost possible position across a repeat (if any) */ - public static Cigar leftAlignIndel(Cigar cigar, final byte[] refSeq, final byte[] readSeq, final int refIndex, final int readIndex) { + @Ensures("result != null") + public static Cigar leftAlignIndel(Cigar cigar, final byte[] refSeq, final byte[] readSeq, final int refIndex, final int readIndex, final boolean doNotThrowExceptionForMultipleIndels) { + ensureLeftAlignmentHasGoodArguments(cigar, refSeq, readSeq, refIndex, readIndex); + + final int numIndels = countIndelElements(cigar); + if ( numIndels == 0 ) + return cigar; + if ( numIndels == 1 ) + return leftAlignSingleIndel(cigar, refSeq, readSeq, refIndex, readIndex); + + // if we got here then there is more than 1 indel in the alignment + if ( doNotThrowExceptionForMultipleIndels ) + return cigar; + + throw new UnsupportedOperationException("attempting to left align a CIGAR that has more than 1 indel in its alignment but this functionality has not been implemented yet"); + } + + private static void ensureLeftAlignmentHasGoodArguments(final Cigar cigar, final byte[] refSeq, final byte[] readSeq, final int refIndex, final int readIndex) { + if ( cigar == null ) throw new IllegalArgumentException("attempting to left align a CIGAR that is null"); + if ( refSeq == null ) throw new IllegalArgumentException("attempting to left align a reference sequence that is null"); + if ( readSeq == null ) throw new IllegalArgumentException("attempting to left align a read sequence that is null"); + if ( refIndex < 0 ) throw new IllegalArgumentException("attempting to left align with a reference index less than 0"); + if ( readIndex < 0 ) throw new IllegalArgumentException("attempting to left align with a read index less than 0"); + } + + /** + * Counts the number of I/D operators + * + * @param cigar cigar to check -- cannot be null + * @return non-negative count of indel operators + */ + @Requires("cigar != null") + @Ensures("result >= 0") + private static int countIndelElements(final Cigar cigar) { + int indelCount = 0; + for ( CigarElement ce : cigar.getCigarElements() ) { + if ( ce.getOperator() == CigarOperator.D || ce.getOperator() == CigarOperator.I ) + indelCount++; + } + return indelCount; + } + + /** + * See the documentation for AlignmentUtils.leftAlignIndel() for more details. + * + * This flavor of the left alignment works if and only if the alignment has one - and only one - indel. + * An exception is thrown if there are no indels or more than 1 indel in the alignment. + * + * @param cigar structure of the original alignment -- cannot be null + * @param refSeq reference sequence the read is aligned to + * @param readSeq read sequence + * @param refIndex 0-based alignment start position on ref + * @param readIndex 0-based alignment start position on read + * @return a non-null cigar, in which the single indel is guaranteed to be placed at the leftmost possible position across a repeat (if any) + */ + @Ensures("result != null") + public static Cigar leftAlignSingleIndel(Cigar cigar, final byte[] refSeq, final byte[] readSeq, final int refIndex, final int readIndex) { + ensureLeftAlignmentHasGoodArguments(cigar, refSeq, readSeq, refIndex, readIndex); int indexOfIndel = -1; for (int i = 0; i < cigar.numCigarElements(); i++) { CigarElement ce = cigar.getCigarElement(i); if (ce.getOperator() == CigarOperator.D || ce.getOperator() == CigarOperator.I) { - // if there is more than 1 indel, don't left align + // if there is more than 1 indel, exception out if (indexOfIndel != -1) - return cigar; + throw new IllegalArgumentException("attempting to left align a CIGAR that has more than 1 indel in its alignment"); indexOfIndel = i; } } - // if there is no indel or if the alignment starts with an insertion (so that there - // is no place on the read to move that insertion further left), we are done - if (indexOfIndel < 1) return cigar; + // if there is no indel, exception out + if ( indexOfIndel == -1 ) + throw new IllegalArgumentException("attempting to left align a CIGAR that has no indels in its alignment"); + // if the alignment starts with an insertion (so that there is no place on the read to move that insertion further left), we are done + if ( indexOfIndel == 0 ) + return cigar; final int indelLength = cigar.getCigarElement(indexOfIndel).getLength(); @@ -533,7 +636,7 @@ public final class AlignmentUtils { */ @Requires("c != null") @Ensures("result != null") - private static Cigar cleanUpCigar(final Cigar c) { + public static Cigar cleanUpCigar(final Cigar c) { final List elements = new ArrayList(c.numCigarElements() - 1); for (final CigarElement ce : c.getCigarElements()) { @@ -545,6 +648,15 @@ public final class AlignmentUtils { return new Cigar(elements); } + /** + * Move the indel in a given cigar string one base to the left + * + * @param cigar original cigar + * @param indexOfIndel the index of the indel cigar element + * @return non-null cigar with indel moved one base to the left + */ + @Requires("cigar != null && indexOfIndel >= 0 && indexOfIndel < cigar.numCigarElements()") + @Ensures("result != null") private static Cigar moveCigarLeft(Cigar cigar, int indexOfIndel) { // get the first few elements ArrayList elements = new ArrayList(cigar.numCigarElements()); @@ -568,6 +680,19 @@ public final class AlignmentUtils { return new Cigar(elements); } + /** + * Create the string (really a byte array) representation of an indel-containing cigar against the reference. + * + * @param cigar the indel-containing cigar + * @param indexOfIndel the index of the indel cigar element + * @param refSeq the reference sequence + * @param readSeq the read sequence for the cigar + * @param refIndex the starting reference index into refSeq + * @param readIndex the starting read index into readSeq + * @return non-null byte array which is the indel representation against the reference + */ + @Requires("cigar != null && indexOfIndel >= 0 && indexOfIndel < cigar.numCigarElements() && refSeq != null && readSeq != null && refIndex >= 0 && readIndex >= 0") + @Ensures("result != null") private static byte[] createIndelString(final Cigar cigar, final int indexOfIndel, final byte[] refSeq, final byte[] readSeq, int refIndex, int readIndex) { CigarElement indel = cigar.getCigarElement(indexOfIndel); int indelLength = indel.getLength(); @@ -625,4 +750,355 @@ public final class AlignmentUtils { return alt; } + + + /** + * Trim cigar down to one that starts at start reference on the left and extends to end on the reference + * + * @param cigar a non-null Cigar to trim down + * @param start Where should we start keeping bases on the reference? The first position is 0 + * @param end Where should we stop keeping bases on the reference? The maximum value is cigar.getReferenceLength() + * @return a new Cigar with reference length == start - end + 1 + */ + public static Cigar trimCigarByReference(final Cigar cigar, final int start, final int end) { + if ( start < 0 ) throw new IllegalArgumentException("Start must be >= 0 but got " + start); + if ( end < start ) throw new IllegalArgumentException("End " + end + " is < start start " + start); + if ( end > cigar.getReferenceLength() ) throw new IllegalArgumentException("End is beyond the cigar's reference length " + end + " for cigar " + cigar ); + + final Cigar result = trimCigar(cigar, start, end, true); + + if ( result.getReferenceLength() != end - start + 1) + throw new IllegalStateException("trimCigarByReference failure: start " + start + " end " + end + " for " + cigar + " resulted in cigar with wrong size " + result); + return result; + } + + /** + * Trim cigar down to one that starts at start base in the cigar and extends to (inclusive) end base + * + * @param cigar a non-null Cigar to trim down + * @param start Where should we start keeping bases in the cigar? The first position is 0 + * @param end Where should we stop keeping bases in the cigar? The maximum value is cigar.getReadLength() + * @return a new Cigar containing == start - end + 1 reads + */ + public static Cigar trimCigarByBases(final Cigar cigar, final int start, final int end) { + if ( start < 0 ) throw new IllegalArgumentException("Start must be >= 0 but got " + start); + if ( end < start ) throw new IllegalArgumentException("End " + end + " is < start start " + start); + if ( end > cigar.getReadLength() ) throw new IllegalArgumentException("End is beyond the cigar's read length " + end + " for cigar " + cigar ); + + final Cigar result = trimCigar(cigar, start, end, false); + + final int expectedSize = end - start + 1; + if ( result.getReadLength() != expectedSize) + throw new IllegalStateException("trimCigarByBases failure: start " + start + " end " + end + " for " + cigar + " resulted in cigar with wrong size " + result + " with size " + result.getReadLength() + " expected " + expectedSize + " for input cigar " + cigar); + return result; + } + + + /** + * Workhorse for trimCigarByBases and trimCigarByReference + * + * @param cigar a non-null Cigar to trim down + * @param start Where should we start keeping bases in the cigar? The first position is 0 + * @param end Where should we stop keeping bases in the cigar? The maximum value is cigar.getReadLength() + * @param byReference should start and end be intrepreted as position in the reference or the read to trim to/from? + * @return a non-null cigar + */ + @Requires({"cigar != null", "start >= 0", "start <= end"}) + @Ensures("result != null") + private static Cigar trimCigar(final Cigar cigar, final int start, final int end, final boolean byReference) { + final List newElements = new LinkedList(); + + int pos = 0; + for ( final CigarElement elt : cigar.getCigarElements() ) { + if ( pos > end ) break; + + switch ( elt.getOperator() ) { + case D: + if ( ! byReference ) { + if ( pos >= start ) + newElements.add(elt); + break; + } + // otherwise fall through to the next case + case EQ: case M: case X: + pos = addCigarElements(newElements, pos, start, end, elt); + break; + case S: case I: + if ( byReference ) { + if ( pos >= start ) + newElements.add(elt); + } else { + pos = addCigarElements(newElements, pos, start, end, elt); + } + break; + default: + throw new IllegalStateException("Cannot handle " + elt); + } + } + + return AlignmentUtils.consolidateCigar(new Cigar(newElements)); + } + + /** + * Helper function for trimCigar that adds cigar elements (of total length X) of elt.op to dest for + * X bases that fall between start and end, where the last position of the base is pos. + * + * The primary use of this function is to create a new cigar element list that contains only + * elements that occur between start and end bases in an initial cigar. + * + * Note that this function may return multiple cigar elements (1M1M etc) that are best consolidated + * after the fact into a single simpler representation. + * + * @param dest we will append our cigar elements to this list + * @param pos the position (0 indexed) where elt started + * @param start only include bases that occur >= this position + * @param end only include bases that occur <= this position + * @param elt the element we are slicing down + * @return the position after we've traversed all elt.length bases of elt + */ + protected static int addCigarElements(final List dest, int pos, final int start, final int end, final CigarElement elt) { + final int length = Math.min(pos + elt.getLength() - 1, end) - Math.max(pos, start) + 1; + if ( length > 0 ) + dest.add(new CigarElement(length, elt.getOperator())); + return pos + elt.getLength(); + } + + /** + * Get the offset (base 0) of the first reference aligned base in Cigar that occurs after readStartByBaseOfCigar base of the cigar + * + * The main purpose of this routine is to find a good start position for a read given it's cigar. The real + * challenge is that the starting base might be inside an insertion, in which case the read actually starts + * at the next M/EQ/X operator. + * + * @param cigar a non-null cigar + * @param readStartByBaseOfCigar finds the first base after this (0 indexed) that aligns to the reference genome (M, EQ, X) + * @throws IllegalStateException if no such base can be found + * @return an offset into cigar + */ + public static int calcFirstBaseMatchingReferenceInCigar(final Cigar cigar, int readStartByBaseOfCigar) { + if ( cigar == null ) throw new IllegalArgumentException("cigar cannot be null"); + if ( readStartByBaseOfCigar >= cigar.getReadLength() ) throw new IllegalArgumentException("readStartByBaseOfCigar " + readStartByBaseOfCigar + " must be <= readLength " + cigar.getReadLength()); + + int hapOffset = 0, refOffset = 0; + for ( final CigarElement ce : cigar.getCigarElements() ) { + for ( int i = 0; i < ce.getLength(); i++ ) { + switch ( ce.getOperator() ) { + case M:case EQ:case X: + if ( hapOffset >= readStartByBaseOfCigar ) + return refOffset; + hapOffset++; + refOffset++; + break; + case I: case S: + hapOffset++; + break; + case D: + refOffset++; + break; + default: + throw new IllegalStateException("calcFirstBaseMatchingReferenceInCigar does not support cigar " + ce.getOperator() + " in cigar " + cigar); + } + } + } + + throw new IllegalStateException("Never found appropriate matching state for cigar " + cigar + " given start of " + readStartByBaseOfCigar); + } + + /** + * Generate a new Cigar that maps the operations of the first cigar through those in a second + * + * For example, if first is 5M and the second is 2M1I2M then the result is 2M1I2M. + * However, if first is 1M2D3M and second is 2M1I3M this results in a cigar X + * + * ref : AC-GTA + * hap : ACxGTA - 2M1I3M + * read : A--GTA - 1M2D3M + * result: A--GTA => 1M1D3M + * + * ref : ACxG-TA + * hap : AC-G-TA - 2M1D3M + * read : AC-GxTA - 3M1I2M + * result: AC-GxTA => 2M1D1M1I2M + * + * ref : ACGTA + * hap : ACGTA - 5M + * read : A-GTA - 1M1I3M + * result: A-GTA => 1M1I3M + * + * ref : ACGTAC + * hap : AC---C - 2M3D1M + * read : AC---C - 3M + * result: AG---C => 2M3D + * + * The constraint here is that both cigars should imply that the result have the same number of + * reference bases (i.e.g, cigar.getReferenceLength() are equals). + * + * @param firstToSecond the cigar mapping hap1 -> hap2 + * @param secondToThird the cigar mapping hap2 -> hap3 + * @return A cigar mapping hap1 -> hap3 + */ + public static Cigar applyCigarToCigar(final Cigar firstToSecond, final Cigar secondToThird) { + final boolean DEBUG = false; + + final List newElements = new LinkedList(); + final int nElements12 = firstToSecond.getCigarElements().size(); + final int nElements23 = secondToThird.getCigarElements().size(); + + int cigar12I = 0, cigar23I = 0; + int elt12I = 0, elt23I = 0; + + while ( cigar12I < nElements12 && cigar23I < nElements23 ) { + final CigarElement elt12 = firstToSecond.getCigarElement(cigar12I); + final CigarElement elt23 = secondToThird.getCigarElement(cigar23I); + + final CigarPairTransform transform = getTransformer(elt12.getOperator(), elt23.getOperator()); + + if ( DEBUG ) + System.out.printf("Transform %s => %s with elt1 = %d %s @ %d elt2 = %d %s @ %d with transform %s%n", + firstToSecond, secondToThird, cigar12I, elt12.getOperator(), elt12I, cigar23I, elt23.getOperator(), elt23I, transform); + + if ( transform.op13 != null ) // skip no ops + newElements.add(new CigarElement(1, transform.op13)); + + elt12I += transform.advance12; + elt23I += transform.advance23; + + // if have exhausted our current element, advance to the next one + if ( elt12I == elt12.getLength() ) { cigar12I++; elt12I = 0; } + if ( elt23I == elt23.getLength() ) { cigar23I++; elt23I = 0; } + } + + return AlignmentUtils.consolidateCigar(new Cigar(newElements)); + } + + private static CigarPairTransform getTransformer(final CigarOperator op12, final CigarOperator op23) { + for ( final CigarPairTransform transform : cigarPairTransformers) { + if ( transform.op12.contains(op12) && transform.op23.contains(op23) ) + return transform; + } + + throw new IllegalStateException("No transformer for operators " + op12 + " and " + op23); + } + + /** + * transformations that project one alignment state through another + * + * Think about this as a state machine, where we have: + * + * bases3 : xxx A zzz + * bases2 : xxx B zzz + * bases1 : xxx C zzz + * + * where A, B and C are alignment states of a three way alignment. We want to capture + * the transition from operation mapping 1 -> 2 and an operation mapping 2 -> 3 and its + * associated mapping from 1 -> 3 and the advancement of the cigar states of 1->2 and 2->3. + * + * Imagine that A, B, and C are all equivalent (so that op12 = M and op23 = M). This implies + * a mapping of 1->3 of M, and in this case the next states to consider in the 3 way alignment + * are the subsequent states in 1 and 2 (so that advance12 and advance23 are both 1). + * + * Obviously not all of the states and their associated transitions are so simple. Suppose instead + * that op12 = I, and op23 = M. What does this look like: + * + * bases3 : xxx - A zzz + * bases2 : xxx - B zzz + * bases1 : xxx I C zzz + * + * It means that op13 must be an insertion (as we have an extra base in 1 thats not present in 2 and + * so not present in 3). We advance the cigar in 1 by 1 (as we've consumed one base in 1 for the I) + * but we haven't yet found the base corresponding to the M of op23. So we don't advance23. + */ + private static class CigarPairTransform { + private final EnumSet op12, op23; + private final CigarOperator op13; + private final int advance12, advance23; + + private CigarPairTransform(CigarOperator op12, CigarOperator op23, CigarOperator op13, int advance12, int advance23) { + this.op12 = getCigarSet(op12); + this.op23 = getCigarSet(op23); + this.op13 = op13; + this.advance12 = advance12; + this.advance23 = advance23; + } + + private static EnumSet getCigarSet(final CigarOperator masterOp) { + switch ( masterOp ) { + case M: return EnumSet.of(CigarOperator.M, CigarOperator.EQ, CigarOperator.X); + case I: return EnumSet.of(CigarOperator.I, CigarOperator.S); + case D: return EnumSet.of(CigarOperator.D); + default: throw new IllegalStateException("Unexpected state " + masterOp); + } + } + + @Override + public String toString() { + return "CigarPairTransform{" + + "op12=" + op12 + + ", op23=" + op23 + + ", op13=" + op13 + + ", advance12=" + advance12 + + ", advance23=" + advance23 + + '}'; + } + } + + + private final static List cigarPairTransformers = Arrays.asList( + // + // op12 is a match + // + // 3: xxx B yyy + // ^^^^^^^^^^^^ + // 2: xxx M yyy + // 1: xxx M yyy + new CigarPairTransform(CigarOperator.M, CigarOperator.M, CigarOperator.M, 1, 1), + // 3: xxx I yyy + // ^^^^^^^^^^^^ + // 2: xxx I yyy + // 1: xxx M yyy + new CigarPairTransform(CigarOperator.M, CigarOperator.I, CigarOperator.I, 1, 1), + // 3: xxx D yyy + // ^^^^^^^^^^^^ + // 2: xxx D yyy + // 1: xxx M yyy + new CigarPairTransform(CigarOperator.M, CigarOperator.D, CigarOperator.D, 0, 1), + + // + // op12 is a deletion + // + // 3: xxx D M yyy + // ^^^^^^^^^^^^ + // 2: xxx M yyy + // 1: xxx D yyy + new CigarPairTransform(CigarOperator.D, CigarOperator.M, CigarOperator.D, 1, 1), + // 3: xxx D1 D2 yyy + // ^^^^^^^^^^^^ + // 2: xxx D2 yyy + // 1: xxx D1 yyy + new CigarPairTransform(CigarOperator.D, CigarOperator.D, CigarOperator.D, 1, 0), + // 3: xxx X yyy => no-op, we skip emitting anything here + // ^^^^^^^^^^^^ + // 2: xxx I yyy + // 1: xxx D yyy + new CigarPairTransform(CigarOperator.D, CigarOperator.I, null, 1, 1), + + // + // op12 is a insertion + // + // 3: xxx I M yyy + // ^^^^^^^^^^^^ + // 2: xxx M yyy + // 1: xxx I yyy + new CigarPairTransform(CigarOperator.I, CigarOperator.M, CigarOperator.I, 1, 0), + // 3: xxx I D yyy + // ^^^^^^^^^^^^ + // 2: xxx D yyy + // 1: xxx I yyy + new CigarPairTransform(CigarOperator.I, CigarOperator.D, CigarOperator.I, 1, 0), + // 3: xxx I1 I2 yyy + // ^^^^^^^^^^^^ + // 2: xxx I2 yyy + // 1: xxx I1 yyy + new CigarPairTransform(CigarOperator.I, CigarOperator.I, CigarOperator.I, 1, 0) + ); } diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMUtils.java b/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMUtils.java index 1bf24814b..b8367a7df 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMUtils.java @@ -118,7 +118,7 @@ public class ArtificialSAMUtils { /** * Creates an artificial sam header based on the sequence dictionary dict * - * @return + * @return a new sam header */ public static SAMFileHeader createArtificialSamHeader(final SAMSequenceDictionary dict) { SAMFileHeader header = new SAMFileHeader(); @@ -127,6 +127,14 @@ public class ArtificialSAMUtils { return header; } + /** + * Creates an artificial sam header with standard test parameters + * + * @return the sam header + */ + public static SAMFileHeader createArtificialSamHeader() { + return createArtificialSamHeader(1, 1, 1000000); + } /** * setup a default read group for a SAMFileHeader @@ -270,7 +278,7 @@ public class ArtificialSAMUtils { * @return the artificial read */ public static GATKSAMRecord createArtificialRead(byte[] bases, byte[] qual, String cigar) { - SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(); return ArtificialSAMUtils.createArtificialRead(header, "default_read", 0, 10000, bases, qual, cigar); } @@ -280,7 +288,7 @@ public class ArtificialSAMUtils { byte [] qual = {30}; byte [] bases = Utils.arrayFromArrayWithLength(base, length); byte [] quals = Utils.arrayFromArrayWithLength(qual, length); - SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000000); + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(); return ArtificialSAMUtils.createArtificialRead(header, "default_read", 0, 10000, bases, quals, cigar.toString()); } diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriter.java b/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialStingSAMFileWriter.java similarity index 89% rename from public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriter.java rename to public/java/src/org/broadinstitute/sting/utils/sam/ArtificialStingSAMFileWriter.java index 4a05d91b7..5c74bb5b8 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriter.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/ArtificialStingSAMFileWriter.java @@ -28,6 +28,7 @@ package org.broadinstitute.sting.utils.sam; import net.sf.samtools.SAMFileHeader; import net.sf.samtools.SAMFileWriter; import net.sf.samtools.SAMRecord; +import org.broadinstitute.sting.gatk.io.StingSAMFileWriter; import java.util.ArrayList; import java.util.List; @@ -61,12 +62,12 @@ import java.util.List; /** * @author aaron *

    - * Class ArtificialSAMFileWriter + * Class ArtificialStingSAMFileWriter *

    * generates a fake samwriter, that you can get the output reads * from when you're done. */ -public class ArtificialSAMFileWriter implements SAMFileWriter { +public class ArtificialStingSAMFileWriter implements StingSAMFileWriter { // are we closed private boolean closed = false; @@ -106,4 +107,16 @@ public class ArtificialSAMFileWriter implements SAMFileWriter { public List getRecords() { return records; } + + @Override + public void writeHeader(SAMFileHeader header) { + } + + @Override + public void setPresorted(boolean presorted) { + } + + @Override + public void setMaxRecordsInRam(int maxRecordsInRam) { + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityReadTransformer.java b/public/java/src/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityReadTransformer.java index d22c0bd7b..20e3736f2 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityReadTransformer.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityReadTransformer.java @@ -44,7 +44,7 @@ public class MisencodedBaseQualityReadTransformer extends ReadTransformer { private boolean disabled; private boolean fixQuals; - private static int currentReadCounter = 0; + protected static int currentReadCounter = 0; @Override public ApplicationTime initializeSub(final GenomeAnalysisEngine engine, final Walker walker) { diff --git a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java index 39d058aea..95e0d55f3 100644 --- a/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/sam/ReadUtils.java @@ -29,12 +29,12 @@ import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import net.sf.samtools.*; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; +import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.NGSPlatform; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; -import org.broadinstitute.sting.utils.BaseUtils; import java.io.File; import java.util.*; @@ -485,7 +485,7 @@ public class ReadUtils { if (allowGoalNotReached) { return new Pair(CLIPPING_GOAL_NOT_REACHED, false); } else { - throw new ReviewedStingException("Reference coordinate corresponds to a non-existent base in the read. This should never happen -- call Mauricio"); + throw new ReviewedStingException(String.format("Reference coordinate corresponds to a non-existent base in the read. This should never happen -- check read with alignment start: %s and cigar: %s", alignmentStart, cigar)); } } @@ -506,7 +506,7 @@ public class ReadUtils { if (allowGoalNotReached) { return new Pair(CLIPPING_GOAL_NOT_REACHED, false); } else { - throw new ReviewedStingException("Reference coordinate corresponds to a non-existent base in the read. This should never happen -- call Mauricio"); + throw new ReviewedStingException(String.format("Reference coordinate corresponds to a non-existent base in the read. This should never happen -- check read with alignment start: %s and cigar: %s", alignmentStart, cigar)); } } @@ -913,4 +913,19 @@ public class ReadUtils { return getBasesReverseComplement(read.getReadBases()); } + /** + * Calculate the maximum read length from the given list of reads. + * @param reads list of reads + * @return non-negative integer + */ + @Ensures({"result >= 0"}) + public static int getMaxReadLength( final List reads ) { + if( reads == null ) { throw new IllegalArgumentException("Attempting to check a null list of reads."); } + + int maxReadLength = 0; + for( final GATKSAMRecord read : reads ) { + maxReadLength = Math.max(maxReadLength, read.getReadLength()); + } + return maxReadLength; + } } diff --git a/public/java/src/org/broadinstitute/sting/utils/variant/GATKVCFUtils.java b/public/java/src/org/broadinstitute/sting/utils/variant/GATKVCFUtils.java index cbc7c01ed..0fba432e7 100644 --- a/public/java/src/org/broadinstitute/sting/utils/variant/GATKVCFUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/variant/GATKVCFUtils.java @@ -26,12 +26,14 @@ package org.broadinstitute.sting.utils.variant; import org.broad.tribble.Feature; +import org.broad.tribble.FeatureCodec; import org.broad.tribble.FeatureCodecHeader; import org.broad.tribble.readers.PositionalBufferedStream; import org.broadinstitute.sting.commandline.RodBinding; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.datasources.rmd.ReferenceOrderedDataSource; import org.broadinstitute.sting.utils.collections.Pair; +import org.broadinstitute.variant.bcf2.BCF2Codec; import org.broadinstitute.variant.variantcontext.VariantContext; import org.broadinstitute.variant.vcf.*; @@ -162,6 +164,67 @@ public class GATKVCFUtils { return rsID; } + /** + * Utility class to read all of the VC records from a file + * + * @param source + * @param codec + * @return + * @throws IOException + */ + public final static Pair readAllVCs( final File source, final FeatureCodec codec ) throws IOException { + // read in the features + PositionalBufferedStream pbs = new PositionalBufferedStream(new FileInputStream(source)); + FeatureCodecHeader header = codec.readHeader(pbs); + pbs.close(); + + pbs = new PositionalBufferedStream(new FileInputStream(source)); + pbs.skip(header.getHeaderEnd()); + + final VCFHeader vcfHeader = (VCFHeader)header.getHeaderValue(); + return new Pair(vcfHeader, new VCIterable(pbs, codec, vcfHeader)); + } + + public static class VCIterable implements Iterable, Iterator { + final PositionalBufferedStream pbs; + final FeatureCodec codec; + final VCFHeader header; + + private VCIterable(final PositionalBufferedStream pbs, final FeatureCodec codec, final VCFHeader header) { + this.pbs = pbs; + this.codec = codec; + this.header = header; + } + + @Override + public Iterator iterator() { + return this; + } + + @Override + public boolean hasNext() { + try { + return ! pbs.isDone(); + } catch ( IOException e ) { + throw new RuntimeException(e); + } + } + + @Override + public VariantContext next() { + try { + final VariantContext vc = codec.decode(pbs); + return vc == null ? null : vc.fullyDecode(header, false); + } catch ( IOException e ) { + throw new RuntimeException(e); + } + } + + @Override + public void remove() { + } + } + /** * Read all of the VCF records from source into memory, returning the header and the VariantContexts * diff --git a/public/java/src/org/broadinstitute/sting/utils/variant/GATKVariantContextUtils.java b/public/java/src/org/broadinstitute/sting/utils/variant/GATKVariantContextUtils.java index b0f3cc5fe..37bd798cf 100644 --- a/public/java/src/org/broadinstitute/sting/utils/variant/GATKVariantContextUtils.java +++ b/public/java/src/org/broadinstitute/sting/utils/variant/GATKVariantContextUtils.java @@ -25,6 +25,7 @@ package org.broadinstitute.sting.utils.variant; +import com.google.java.contract.Ensures; import com.google.java.contract.Requires; import org.apache.commons.lang.ArrayUtils; import org.apache.log4j.Logger; @@ -404,6 +405,7 @@ public class GATKVariantContextUtils { // we need to determine which of the alternate alleles (and hence the likelihoods) to use and carry forward final int numOriginalAltAlleles = vc.getAlternateAlleles().size(); + final int expectedNumLikelihoods = GenotypeLikelihoods.numLikelihoods(vc.getNAlleles(), 2); final int numNewAltAlleles = allelesToUse.size() - 1; // which PLs should be carried forward? @@ -443,6 +445,9 @@ public class GATKVariantContextUtils { double[] newLikelihoods; if ( likelihoodIndexesToUse == null ) { newLikelihoods = originalLikelihoods; + } else if ( originalLikelihoods.length != expectedNumLikelihoods ) { + logger.warn("Wrong number of likelihoods in sample " + g.getSampleName() + " at " + vc + " got " + g.getLikelihoodsString() + " but expected " + expectedNumLikelihoods); + newLikelihoods = null; } else { newLikelihoods = new double[likelihoodIndexesToUse.size()]; int newIndex = 0; @@ -454,13 +459,13 @@ public class GATKVariantContextUtils { } // if there is no mass on the (new) likelihoods, then just no-call the sample - if ( MathUtils.sum(newLikelihoods) > SUM_GL_THRESH_NOCALL ) { + if ( newLikelihoods != null && MathUtils.sum(newLikelihoods) > SUM_GL_THRESH_NOCALL ) { newGTs.add(GenotypeBuilder.create(g.getSampleName(), NO_CALL_ALLELES)); } else { final GenotypeBuilder gb = new GenotypeBuilder(g); - if ( numNewAltAlleles == 0 ) + if ( newLikelihoods == null || numNewAltAlleles == 0 ) gb.noPL(); else gb.PL(newLikelihoods); @@ -509,6 +514,25 @@ public class GATKVariantContextUtils { * @return a list of bi-allelic (or monomorphic) variant context */ public static List splitVariantContextToBiallelics(final VariantContext vc) { + return splitVariantContextToBiallelics(vc, false); + } + + /** + * Split variant context into its biallelic components if there are more than 2 alleles + * + * For VC has A/B/C alleles, returns A/B and A/C contexts. + * Genotypes are all no-calls now (it's not possible to fix them easily) + * Alleles are right trimmed to satisfy VCF conventions + * + * If vc is biallelic or non-variant it is just returned + * + * Chromosome counts are updated (but they are by definition 0) + * + * @param vc a potentially multi-allelic variant context + * @param trimLeft if true, we will also left trim alleles, potentially moving the resulting vcs forward on the genome + * @return a list of bi-allelic (or monomorphic) variant context + */ + public static List splitVariantContextToBiallelics(final VariantContext vc, final boolean trimLeft) { if ( ! vc.isVariant() || vc.isBiallelic() ) // non variant or biallelics already satisfy the contract return Collections.singletonList(vc); @@ -521,7 +545,8 @@ public class GATKVariantContextUtils { builder.alleles(alleles); builder.genotypes(subsetDiploidAlleles(vc, alleles, false)); VariantContextUtils.calculateChromosomeCounts(builder, true); - biallelics.add(reverseTrimAlleles(builder.make())); + final VariantContext trimmed = trimAlleles(builder.make(), trimLeft, true); + biallelics.add(trimmed); } return biallelics; @@ -558,7 +583,7 @@ public class GATKVariantContextUtils { final boolean filteredAreUncalled, final boolean mergeInfoWithMaxAC ) { int originalNumOfVCs = priorityListOfVCs == null ? 0 : priorityListOfVCs.size(); - return simpleMerge(unsortedVCs,priorityListOfVCs,originalNumOfVCs,filteredRecordMergeType,genotypeMergeOptions,annotateOrigin,printMessages,setKey,filteredAreUncalled,mergeInfoWithMaxAC); + return simpleMerge(unsortedVCs, priorityListOfVCs, originalNumOfVCs, filteredRecordMergeType, genotypeMergeOptions, annotateOrigin, printMessages, setKey, filteredAreUncalled, mergeInfoWithMaxAC); } /** @@ -568,6 +593,8 @@ public class GATKVariantContextUtils { * simpleMerge does not verify any more unique sample names EVEN if genotypeMergeOptions == GenotypeMergeType.REQUIRE_UNIQUE. One should use * SampleUtils.verifyUniqueSamplesNames to check that before using sempleMerge. * + * For more information on this method see: http://www.thedistractionnetwork.com/programmer-problem/ + * * @param unsortedVCs collection of unsorted VCs * @param priorityListOfVCs priority list detailing the order in which we should grab the VCs * @param filteredRecordMergeType merge type for filtered records @@ -902,14 +929,66 @@ public class GATKVariantContextUtils { return uniqify ? sampleName + "." + trackName : sampleName; } + /** + * Trim the alleles in inputVC from the reverse direction + * + * @param inputVC a non-null input VC whose alleles might need a haircut + * @return a non-null VariantContext (may be == to inputVC) with alleles trimmed up + */ public static VariantContext reverseTrimAlleles( final VariantContext inputVC ) { + return trimAlleles(inputVC, false, true); + } - // see whether we need to trim common reference base from all alleles - final int trimExtent = computeReverseClipping(inputVC.getAlleles(), inputVC.getReference().getDisplayString().getBytes(), 0, false); - if ( trimExtent <= 0 || inputVC.getAlleles().size() <= 1 ) + /** + * Trim the alleles in inputVC from the forward direction + * + * @param inputVC a non-null input VC whose alleles might need a haircut + * @return a non-null VariantContext (may be == to inputVC) with alleles trimmed up + */ + public static VariantContext forwardTrimAlleles( final VariantContext inputVC ) { + return trimAlleles(inputVC, true, false); + } + + /** + * Trim the alleles in inputVC forward and reverse, as requested + * + * @param inputVC a non-null input VC whose alleles might need a haircut + * @param trimForward should we trim up the alleles from the foward direction? + * @param trimReverse shold we trim up the alleles from the reverse direction? + * @return a non-null VariantContext (may be == to inputVC) with trimmed up alleles + */ + @Ensures("result != null") + public static VariantContext trimAlleles(final VariantContext inputVC, final boolean trimForward, final boolean trimReverse) { + if ( inputVC == null ) throw new IllegalArgumentException("inputVC cannot be null"); + + if ( inputVC.getNAlleles() <= 1 ) return inputVC; - final List alleles = new ArrayList(); + // see whether we need to trim common reference base from all alleles + final int revTrim = trimReverse ? computeReverseClipping(inputVC.getAlleles(), inputVC.getReference().getDisplayString().getBytes()) : 0; + final VariantContext revTrimVC = trimAlleles(inputVC, -1, revTrim); + final int fwdTrim = trimForward ? computeForwardClipping(revTrimVC.getAlleles()) : -1; + return trimAlleles(revTrimVC, fwdTrim, 0); + } + + /** + * Trim up alleles in inputVC, cutting out all bases up to fwdTrimEnd inclusive and + * the last revTrim bases from the end + * + * @param inputVC a non-null input VC + * @param fwdTrimEnd bases up to this index (can be -1) will be removed from the start of all alleles + * @param revTrim the last revTrim bases of each allele will be clipped off as well + * @return a non-null VariantContext (may be == to inputVC) with trimmed up alleles + */ + @Requires({"inputVC != null"}) + @Ensures("result != null") + protected static VariantContext trimAlleles(final VariantContext inputVC, + final int fwdTrimEnd, + final int revTrim) { + if( fwdTrimEnd == -1 && revTrim == 0 ) // nothing to do, so just return inputVC unmodified + return inputVC; + + final List alleles = new LinkedList(); final GenotypesContext genotypes = GenotypesContext.create(); final Map originalToTrimmedAlleleMap = new HashMap(); @@ -919,7 +998,7 @@ public class GATKVariantContextUtils { originalToTrimmedAlleleMap.put(a, a); } else { // get bases for current allele and create a new one with trimmed bases - final byte[] newBases = Arrays.copyOfRange(a.getBases(), 0, a.length()-trimExtent); + final byte[] newBases = Arrays.copyOfRange(a.getBases(), fwdTrimEnd+1, a.length()-revTrim); final Allele trimmedAllele = Allele.create(newBases, a.isReference()); alleles.add(trimmedAllele); originalToTrimmedAlleleMap.put(a, trimmedAllele); @@ -939,13 +1018,16 @@ public class GATKVariantContextUtils { genotypes.add(new GenotypeBuilder(genotype).alleles(trimmedAlleles).make()); } - return new VariantContextBuilder(inputVC).stop(inputVC.getStart() + alleles.get(0).length() - 1).alleles(alleles).genotypes(genotypes).make(); + final int start = inputVC.getStart() + (fwdTrimEnd + 1); + final VariantContextBuilder builder = new VariantContextBuilder(inputVC); + builder.start(start); + builder.stop(start + alleles.get(0).length() - 1); + builder.alleles(alleles); + builder.genotypes(genotypes); + return builder.make(); } - public static int computeReverseClipping(final List unclippedAlleles, - final byte[] ref, - final int forwardClipping, - final boolean allowFullClip) { + public static int computeReverseClipping(final List unclippedAlleles, final byte[] ref) { int clipping = 0; boolean stillClipping = true; @@ -957,16 +1039,13 @@ public class GATKVariantContextUtils { // we need to ensure that we don't reverse clip out all of the bases from an allele because we then will have the wrong // position set for the VariantContext (although it's okay to forward clip it all out, because the position will be fine). if ( a.length() - clipping == 0 ) - return clipping - (allowFullClip ? 0 : 1); + return clipping - 1; - if ( a.length() - clipping <= forwardClipping || a.length() - forwardClipping == 0 ) { + if ( a.length() - clipping <= 0 || a.length() == 0 ) { stillClipping = false; } else if ( ref.length == clipping ) { - if ( allowFullClip ) - stillClipping = false; - else - return -1; + return -1; } else if ( a.getBases()[a.length()-clipping-1] != ref[ref.length-clipping-1] ) { stillClipping = false; @@ -979,6 +1058,58 @@ public class GATKVariantContextUtils { return clipping; } + /** + * Clip out any unnecessary bases off the front of the alleles + * + * The VCF spec represents alleles as block substitutions, replacing AC with A for a + * 1 bp deletion of the C. However, it's possible that we'd end up with alleles that + * contain extra bases on the left, such as GAC/GA to represent the same 1 bp deletion. + * This routine finds an offset among all alleles that can be safely trimmed + * off the left of each allele and still represent the same block substitution. + * + * A/C => A/C + * AC/A => AC/A + * ACC/AC => CC/C + * AGT/CAT => AGT/CAT + * /C => /C + * + * @param unclippedAlleles a non-null list of alleles that we want to clip + * @return the offset into the alleles where we can safely clip, inclusive, or + * -1 if no clipping is tolerated. So, if the result is 0, then we can remove + * the first base of every allele. If the result is 1, we can remove the + * second base. + */ + public static int computeForwardClipping(final List unclippedAlleles) { + // cannot clip unless there's at least 1 alt allele + if ( unclippedAlleles.size() <= 1 ) + return -1; + + // we cannot forward clip any set of alleles containing a symbolic allele + int minAlleleLength = Integer.MAX_VALUE; + for ( final Allele a : unclippedAlleles ) { + if ( a.isSymbolic() ) + return -1; + minAlleleLength = Math.min(minAlleleLength, a.length()); + } + + final byte[] firstAlleleBases = unclippedAlleles.get(0).getBases(); + int indexOflastSharedBase = -1; + + // the -1 to the stop is that we can never clip off the right most base + for ( int i = 0; i < minAlleleLength - 1; i++) { + final byte base = firstAlleleBases[i]; + + for ( final Allele allele : unclippedAlleles ) { + if ( allele.getBases()[i] != base ) + return indexOflastSharedBase; + } + + indexOflastSharedBase = i; + } + + return indexOflastSharedBase; + } + public static double computeHardyWeinbergPvalue(VariantContext vc) { if ( vc.getCalledChrCount() == 0 ) return 0.0; @@ -1167,4 +1298,29 @@ public class GATKVariantContextUtils { return Integer.valueOf(getIndex(vc1)).compareTo(getIndex(vc2)); } } + + /** + * For testing purposes only. Create a site-only VariantContext at contig:start containing alleles + * + * @param name the name of the VC + * @param contig the contig for the VC + * @param start the start of the VC + * @param alleleStrings a non-null, non-empty list of strings for the alleles. The first will be the ref allele, and others the + * alt. Will compute the stop of the VC from the length of the reference allele + * @return a non-null VariantContext + */ + public static VariantContext makeFromAlleles(final String name, final String contig, final int start, final List alleleStrings) { + if ( alleleStrings == null || alleleStrings.isEmpty() ) + throw new IllegalArgumentException("alleleStrings must be non-empty, non-null list"); + + final List alleles = new LinkedList(); + final int length = alleleStrings.get(0).length(); + + boolean first = true; + for ( final String alleleString : alleleStrings ) { + alleles.add(Allele.create(alleleString, first)); + first = false; + } + return new VariantContextBuilder(name, contig, start, start+length-1, alleles).make(); + } } diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Codec.java b/public/java/src/org/broadinstitute/variant/bcf2/BCF2Codec.java deleted file mode 100644 index 098b2a5b0..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Codec.java +++ /dev/null @@ -1,499 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broad.tribble.Feature; -import org.broad.tribble.FeatureCodec; -import org.broad.tribble.FeatureCodecHeader; -import org.broad.tribble.TribbleException; -import org.broad.tribble.readers.AsciiLineReader; -import org.broad.tribble.readers.PositionalBufferedStream; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.*; -import org.broadinstitute.variant.variantcontext.*; - -import java.io.ByteArrayInputStream; -import java.io.FileInputStream; -import java.io.FileNotFoundException; -import java.io.IOException; -import java.util.ArrayList; -import java.util.HashMap; -import java.util.List; -import java.util.Map; - -/** - * Decode BCF2 files - */ -public final class BCF2Codec implements FeatureCodec { - private final static int ALLOWED_MAJOR_VERSION = 2; - private final static int MIN_MINOR_VERSION = 1; - - private BCFVersion bcfVersion = null; - - private VCFHeader header = null; - - /** - * Maps offsets (encoded in BCF) into contig names (from header) for the CHROM field - */ - private final ArrayList contigNames = new ArrayList(); - - /** - * Maps header string names (encoded in VCF) into strings found in the BCF header - * - * Initialized when processing the header - */ - private ArrayList dictionary; - - /** - * Our decoder that reads low-level objects from the BCF2 records - */ - private final BCF2Decoder decoder = new BCF2Decoder(); - - /** - * Provides some sanity checking on the header - */ - private final static int MAX_HEADER_SIZE = 0x08000000; - - /** - * Genotype field decoders that are initialized when the header is read - */ - private BCF2GenotypeFieldDecoders gtFieldDecoders = null; - - /** - * A cached array of GenotypeBuilders for efficient genotype decoding. - * - * Caching it allows us to avoid recreating this intermediate data - * structure each time we decode genotypes - */ - private GenotypeBuilder[] builders = null; - - // for error handling - private int recordNo = 0; - private int pos = 0; - - - // ---------------------------------------------------------------------- - // - // Feature codec interface functions - // - // ---------------------------------------------------------------------- - - @Override - public Feature decodeLoc( final PositionalBufferedStream inputStream ) { - return decode(inputStream); - } - - @Override - public VariantContext decode( final PositionalBufferedStream inputStream ) { - try { - recordNo++; - final VariantContextBuilder builder = new VariantContextBuilder(); - - final int sitesBlockSize = decoder.readBlockSize(inputStream); - final int genotypeBlockSize = decoder.readBlockSize(inputStream); - - decoder.readNextBlock(sitesBlockSize, inputStream); - decodeSiteLoc(builder); - final SitesInfoForDecoding info = decodeSitesExtendedInfo(builder); - - decoder.readNextBlock(genotypeBlockSize, inputStream); - createLazyGenotypesDecoder(info, builder); - return builder.fullyDecoded(true).make(); - } catch ( IOException e ) { - throw new TribbleException("Failed to read BCF file", e); - } - } - - @Override - public Class getFeatureType() { - return VariantContext.class; - } - - @Override - public FeatureCodecHeader readHeader( final PositionalBufferedStream inputStream ) { - try { - // note that this reads the magic as well, and so does double duty - bcfVersion = BCFVersion.readBCFVersion(inputStream); - if ( bcfVersion == null ) - error("Input stream does not contain a BCF encoded file; BCF magic header info not found"); - - if ( bcfVersion.getMajorVersion() != ALLOWED_MAJOR_VERSION ) - error("BCF2Codec can only process BCF2 files, this file has major version " + bcfVersion.getMajorVersion()); - if ( bcfVersion.getMinorVersion() < MIN_MINOR_VERSION ) - error("BCF2Codec can only process BCF2 files with minor version >= " + MIN_MINOR_VERSION + " but this file has minor version " + bcfVersion.getMinorVersion()); - - if ( GeneralUtils.DEBUG_MODE_ENABLED ) { - System.err.println("Parsing data stream with BCF version " + bcfVersion); - } - - final int headerSizeInBytes = BCF2Type.INT32.read(inputStream); - - if ( headerSizeInBytes <= 0 || headerSizeInBytes > MAX_HEADER_SIZE) // no bigger than 8 MB - error("BCF2 header has invalid length: " + headerSizeInBytes + " must be >= 0 and < "+ MAX_HEADER_SIZE); - - final byte[] headerBytes = new byte[headerSizeInBytes]; - if ( inputStream.read(headerBytes) != headerSizeInBytes ) - error("Couldn't read all of the bytes specified in the header length = " + headerSizeInBytes); - - final PositionalBufferedStream bps = new PositionalBufferedStream(new ByteArrayInputStream(headerBytes)); - final AsciiLineReader headerReader = new AsciiLineReader(bps); - final VCFCodec headerParser = new VCFCodec(); - this.header = (VCFHeader)headerParser.readHeader(headerReader); - bps.close(); - } catch ( IOException e ) { - throw new TribbleException("I/O error while reading BCF2 header"); - } - - // create the config offsets - if ( ! header.getContigLines().isEmpty() ) { - contigNames.clear(); - for ( final VCFContigHeaderLine contig : header.getContigLines()) { - if ( contig.getID() == null || contig.getID().equals("") ) - error("found a contig with an invalid ID " + contig); - contigNames.add(contig.getID()); - } - } else { - error("Didn't find any contig lines in BCF2 file header"); - } - - // create the string dictionary - dictionary = parseDictionary(header); - - // prepare the genotype field decoders - gtFieldDecoders = new BCF2GenotypeFieldDecoders(header); - - // create and initialize the genotype builder array - final int nSamples = header.getNGenotypeSamples(); - builders = new GenotypeBuilder[nSamples]; - for ( int i = 0; i < nSamples; i++ ) { - builders[i] = new GenotypeBuilder(header.getGenotypeSamples().get(i)); - } - - // position right before next line (would be right before first real record byte at end of header) - return new FeatureCodecHeader(header, inputStream.getPosition()); - } - - @Override - public boolean canDecode( final String path ) { - FileInputStream fis = null; - try { - fis = new FileInputStream(path); - final BCFVersion version = BCFVersion.readBCFVersion(fis); - return version != null && version.getMajorVersion() == ALLOWED_MAJOR_VERSION; - } catch ( FileNotFoundException e ) { - return false; - } catch ( IOException e ) { - return false; - } finally { - try { - if ( fis != null ) fis.close(); - } catch ( IOException e ) { - // do nothing - } - } - } - - // -------------------------------------------------------------------------------- - // - // implicit block - // - // The first four records of BCF are inline untype encoded data of: - // - // 4 byte integer chrom offset - // 4 byte integer start - // 4 byte integer ref length - // 4 byte float qual - // - // -------------------------------------------------------------------------------- - - /** - * Decode the sites level data from this classes decoder - * - * @param builder - * @return - */ - @Requires({"builder != null"}) - private final void decodeSiteLoc(final VariantContextBuilder builder) throws IOException { - final int contigOffset = decoder.decodeInt(BCF2Type.INT32); - final String contig = lookupContigName(contigOffset); - builder.chr(contig); - - this.pos = decoder.decodeInt(BCF2Type.INT32) + 1; // GATK is one based, BCF2 is zero-based - final int refLength = decoder.decodeInt(BCF2Type.INT32); - builder.start((long)pos); - builder.stop((long)(pos + refLength - 1)); // minus one because GATK has closed intervals but BCF2 is open - } - - /** - * Decode the sites level data from this classes decoder - * - * @param builder - * @return - */ - @Requires({"builder != null", "decoder != null"}) - @Ensures({"result != null", "result.isValid()"}) - private final SitesInfoForDecoding decodeSitesExtendedInfo(final VariantContextBuilder builder) throws IOException { - final Object qual = decoder.decodeSingleValue(BCF2Type.FLOAT); - if ( qual != null ) { - builder.log10PError(((Double)qual) / -10.0); - } - - final int nAlleleInfo = decoder.decodeInt(BCF2Type.INT32); - final int nFormatSamples = decoder.decodeInt(BCF2Type.INT32); - final int nAlleles = nAlleleInfo >> 16; - final int nInfo = nAlleleInfo & 0x0000FFFF; - final int nFormatFields = nFormatSamples >> 24; - final int nSamples = nFormatSamples & 0x00FFFFF; - - if ( header.getNGenotypeSamples() != nSamples ) - error("Reading BCF2 files with different numbers of samples per record " + - "is not currently supported. Saw " + header.getNGenotypeSamples() + - " samples in header but have a record with " + nSamples + " samples"); - - decodeID(builder); - final List alleles = decodeAlleles(builder, pos, nAlleles); - decodeFilter(builder); - decodeInfo(builder, nInfo); - - final SitesInfoForDecoding info = new SitesInfoForDecoding(nFormatFields, nSamples, alleles); - if ( ! info.isValid() ) - error("Sites info is malformed: " + info); - return info; - } - - protected final static class SitesInfoForDecoding { - final int nFormatFields; - final int nSamples; - final List alleles; - - private SitesInfoForDecoding(final int nFormatFields, final int nSamples, final List alleles) { - this.nFormatFields = nFormatFields; - this.nSamples = nSamples; - this.alleles = alleles; - } - - public boolean isValid() { - return nFormatFields >= 0 && - nSamples >= 0 && - alleles != null && ! alleles.isEmpty() && alleles.get(0).isReference(); - } - - @Override - public String toString() { - return String.format("nFormatFields = %d, nSamples = %d, alleles = %s", nFormatFields, nSamples, alleles); - } - } - - /** - * Decode the id field in this BCF2 file and store it in the builder - * @param builder - */ - private void decodeID( final VariantContextBuilder builder ) throws IOException { - final String id = (String)decoder.decodeTypedValue(); - - if ( id == null ) - builder.noID(); - else - builder.id(id); - } - - /** - * Decode the alleles from this BCF2 file and put the results in builder - * @param builder - * @param pos - * @param nAlleles - * @return the alleles - */ - @Requires("nAlleles > 0") - private List decodeAlleles( final VariantContextBuilder builder, final int pos, final int nAlleles ) throws IOException { - // TODO -- probably need inline decoder for efficiency here (no sense in going bytes -> string -> vector -> bytes - List alleles = new ArrayList(nAlleles); - String ref = null; - - for ( int i = 0; i < nAlleles; i++ ) { - final String alleleBases = (String)decoder.decodeTypedValue(); - - final boolean isRef = i == 0; - final Allele allele = Allele.create(alleleBases, isRef); - if ( isRef ) ref = alleleBases; - - alleles.add(allele); - } - assert ref != null; - - builder.alleles(alleles); - - assert ref.length() > 0; - - return alleles; - } - - /** - * Decode the filter field of this BCF2 file and store the result in the builder - * @param builder - */ - private void decodeFilter( final VariantContextBuilder builder ) throws IOException { - final Object value = decoder.decodeTypedValue(); - - if ( value == null ) - builder.unfiltered(); - else { - if ( value instanceof Integer ) { - // fast path for single integer result - final String filterString = getDictionaryString((Integer)value); - if ( VCFConstants.PASSES_FILTERS_v4.equals(filterString)) - builder.passFilters(); - else - builder.filter(filterString); - } else { - for ( final int offset : (List)value ) - builder.filter(getDictionaryString(offset)); - } - } - } - - /** - * Loop over the info field key / value pairs in this BCF2 file and decode them into the builder - * - * @param builder - * @param numInfoFields - */ - @Requires("numInfoFields >= 0") - private void decodeInfo( final VariantContextBuilder builder, final int numInfoFields ) throws IOException { - if ( numInfoFields == 0 ) - // fast path, don't bother doing any work if there are no fields - return; - - final Map infoFieldEntries = new HashMap(numInfoFields); - for ( int i = 0; i < numInfoFields; i++ ) { - final String key = getDictionaryString(); - Object value = decoder.decodeTypedValue(); - final VCFCompoundHeaderLine metaData = VariantContextUtils.getMetaDataForField(header, key); - if ( metaData.getType() == VCFHeaderLineType.Flag ) value = true; // special case for flags - infoFieldEntries.put(key, value); - } - - builder.attributes(infoFieldEntries); - } - - // -------------------------------------------------------------------------------- - // - // Decoding Genotypes - // - // -------------------------------------------------------------------------------- - - /** - * Create the lazy loader for the genotypes data, and store it in the builder - * so that the VC will be able to decode on demand the genotypes data - * - * @param siteInfo - * @param builder - */ - private void createLazyGenotypesDecoder( final SitesInfoForDecoding siteInfo, - final VariantContextBuilder builder ) { - if (siteInfo.nSamples > 0) { - final LazyGenotypesContext.LazyParser lazyParser = - new BCF2LazyGenotypesDecoder(this, siteInfo.alleles, siteInfo.nSamples, siteInfo.nFormatFields, builders); - - final LazyData lazyData = new LazyData(header, siteInfo.nFormatFields, decoder.getRecordBytes()); - final LazyGenotypesContext lazy = new LazyGenotypesContext(lazyParser, lazyData, header.getNGenotypeSamples()); - - // did we resort the sample names? If so, we need to load the genotype data - if ( !header.samplesWereAlreadySorted() ) - lazy.decode(); - - builder.genotypesNoValidation(lazy); - } - } - - public static class LazyData { - final public VCFHeader header; - final public int nGenotypeFields; - final public byte[] bytes; - - @Requires({"nGenotypeFields > 0", "bytes != null"}) - public LazyData(final VCFHeader header, final int nGenotypeFields, final byte[] bytes) { - this.header = header; - this.nGenotypeFields = nGenotypeFields; - this.bytes = bytes; - } - } - - @Ensures("result != null") - private final String getDictionaryString() throws IOException { - return getDictionaryString((Integer) decoder.decodeTypedValue()); - } - - @Requires("offset < dictionary.size()") - @Ensures("result != null") - protected final String getDictionaryString(final int offset) { - return dictionary.get(offset); - } - - /** - * Translate the config offset as encoded in the BCF file into the actual string - * name of the contig from the dictionary - * - * @param contigOffset - * @return - */ - @Requires({"contigOffset >= 0", "contigOffset < contigNames.size()"}) - @Ensures("result != null") - private final String lookupContigName( final int contigOffset ) { - return contigNames.get(contigOffset); - } - - @Requires("header != null") - @Ensures({"result != null", "! result.isEmpty()"}) - private final ArrayList parseDictionary(final VCFHeader header) { - final ArrayList dict = BCF2Utils.makeDictionary(header); - - // if we got here we never found a dictionary, or there are no elements in the dictionary - if ( dict.isEmpty() ) - error("Dictionary header element was absent or empty"); - - return dict; - } - - /** - * @return the VCFHeader we found in this BCF2 file - */ - protected VCFHeader getHeader() { - return header; - } - - @Requires("field != null") - @Ensures("result != null") - protected BCF2GenotypeFieldDecoders.Decoder getGenotypeFieldDecoder(final String field) { - return gtFieldDecoders.getDecoder(field); - } - - private void error(final String message) throws RuntimeException { - throw new TribbleException(String.format("%s, at record %d with position %d:", message, recordNo, pos)); - } -} diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Decoder.java b/public/java/src/org/broadinstitute/variant/bcf2/BCF2Decoder.java deleted file mode 100644 index b9970706b..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Decoder.java +++ /dev/null @@ -1,375 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.utils.GeneralUtils; - -import java.io.ByteArrayInputStream; -import java.io.IOException; -import java.io.InputStream; -import java.util.ArrayList; -import java.util.Arrays; - -public final class BCF2Decoder { - byte[] recordBytes = null; - ByteArrayInputStream recordStream = null; - - public BCF2Decoder() { - // nothing to do - } - - /** - * Create a new decoder ready to read BCF2 data from the byte[] recordBytes, for testing purposes - * - * @param recordBytes - */ - protected BCF2Decoder(final byte[] recordBytes) { - setRecordBytes(recordBytes); - } - - // ---------------------------------------------------------------------- - // - // Routines to load, set, skip blocks of underlying data we are decoding - // - // ---------------------------------------------------------------------- - - /** - * Reads the next record from input stream and prepare this decoder to decode values from it - * - * @param stream - * @return - */ - public void readNextBlock(final int blockSizeInBytes, final InputStream stream) { - if ( blockSizeInBytes < 0 ) throw new TribbleException("Invalid block size " + blockSizeInBytes); - setRecordBytes(readRecordBytes(blockSizeInBytes, stream)); - } - - /** - * Skips the next record from input stream, invalidating current block data - * - * @param stream - * @return - */ - public void skipNextBlock(final int blockSizeInBytes, final InputStream stream) { - try { - final int bytesRead = (int)stream.skip(blockSizeInBytes); - validateReadBytes(bytesRead, 1, blockSizeInBytes); - } catch ( IOException e ) { - throw new TribbleException("I/O error while reading BCF2 file", e); - } - this.recordBytes = null; - this.recordStream = null; - } - - /** - * Returns the byte[] for the block of data we are currently decoding - * @return - */ - public byte[] getRecordBytes() { - return recordBytes; - } - - /** - * The size of the current block in bytes - * - * @return - */ - public int getBlockSize() { - return recordBytes.length; - } - - public boolean blockIsFullyDecoded() { - return recordStream.available() == 0; - } - - /** - * Use the recordBytes[] to read BCF2 records from now on - * - * @param recordBytes - */ - @Requires("recordBytes != null") - @Ensures({"this.recordBytes == recordBytes", "recordStream != null"}) - public void setRecordBytes(final byte[] recordBytes) { - this.recordBytes = recordBytes; - this.recordStream = new ByteArrayInputStream(recordBytes); - } - - // ---------------------------------------------------------------------- - // - // High-level decoder - // - // ---------------------------------------------------------------------- - - public final Object decodeTypedValue() throws IOException { - final byte typeDescriptor = readTypeDescriptor(); - return decodeTypedValue(typeDescriptor); - } - - public final Object decodeTypedValue(final byte typeDescriptor) throws IOException { - final int size = decodeNumberOfElements(typeDescriptor); - return decodeTypedValue(typeDescriptor, size); - } - - @Requires("size >= 0") - public final Object decodeTypedValue(final byte typeDescriptor, final int size) throws IOException { - if ( size == 0 ) { - // missing value => null in java - return null; - } else { - final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); - if ( type == BCF2Type.CHAR ) { // special case string decoding for efficiency - return decodeLiteralString(size); - } else if ( size == 1 ) { - return decodeSingleValue(type); - } else { - final ArrayList ints = new ArrayList(size); - for ( int i = 0; i < size; i++ ) { - final Object val = decodeSingleValue(type); - if ( val == null ) continue; // auto-pruning. We remove trailing nulls - ints.add(val); - } - return ints.isEmpty() ? null : ints; // return null when all of the values are null - } - } - } - - public final Object decodeSingleValue(final BCF2Type type) throws IOException { - // TODO -- decodeTypedValue should integrate this routine - final int value = decodeInt(type); - - if ( value == type.getMissingBytes() ) - return null; - else { - switch (type) { - case INT8: - case INT16: - case INT32: return value; - case FLOAT: return rawFloatToFloat(value); - case CHAR: return value & 0xFF; // TODO -- I cannot imagine why we'd get here, as string needs to be special cased - default: throw new TribbleException("BCF2 codec doesn't know how to decode type " + type ); - } - } - } - - // ---------------------------------------------------------------------- - // - // Decode raw primitive data types (ints, floats, and strings) - // - // ---------------------------------------------------------------------- - - private final Object decodeLiteralString(final int size) { - assert size > 0; - - // TODO -- assumes size > 0 - final byte[] bytes = new byte[size]; // TODO -- in principle should just grab bytes from underlying array - try { - recordStream.read(bytes); - - int goodLength = 0; - for ( ; goodLength < bytes.length ; goodLength++ ) - if ( bytes[goodLength] == 0 ) break; - - if ( goodLength == 0 ) - return null; - else { - final String s = new String(bytes, 0, goodLength); - return BCF2Utils.isCollapsedString(s) ? BCF2Utils.explodeStringList(s) : s; - } - } catch ( IOException e ) { - throw new TribbleException("readByte failure", e); - } - } - - @Ensures("result >= 0") - public final int decodeNumberOfElements(final byte typeDescriptor) throws IOException { - if ( BCF2Utils.sizeIsOverflow(typeDescriptor) ) - // -1 ensures we explode immediately with a bad size if the result is missing - return decodeInt(readTypeDescriptor(), -1); - else - // the size is inline, so just decode it - return BCF2Utils.decodeSize(typeDescriptor); - } - - /** - * Decode an int from the stream. If the value in the stream is missing, - * returns missingValue. Requires the typeDescriptor indicate an inline - * single element event - * - * @param typeDescriptor - * @return - */ - @Requires("BCF2Utils.decodeSize(typeDescriptor) == 1") - public final int decodeInt(final byte typeDescriptor, final int missingValue) throws IOException { - final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); - final int i = decodeInt(type); - return i == type.getMissingBytes() ? missingValue : i; - } - - @Requires("type != null") - public final int decodeInt(final BCF2Type type) throws IOException { - return type.read(recordStream); - } - - /** - * Low-level reader for int[] - * - * Requires a typeDescriptor so the function knows how many elements to read, - * and how they are encoded. - * - * If size == 0 => result is null - * If size > 0 => result depends on the actual values in the stream - * -- If the first element read is MISSING, result is null (all values are missing) - * -- Else result = int[N] where N is the first N non-missing values decoded - * - * @param maybeDest if not null we'll not allocate space for the vector, but instead use - * the externally allocated array of ints to store values. If the - * size of this vector is < the actual size of the elements, we'll be - * forced to use freshly allocated arrays. Also note that padded - * int elements are still forced to do a fresh allocation as well. - * @return see description - */ - @Requires({"type != null", "type.isIntegerType()", "size >= 0"}) - public final int[] decodeIntArray(final int size, final BCF2Type type, int[] maybeDest) throws IOException { - if ( size == 0 ) { - return null; - } else { - if ( maybeDest != null && maybeDest.length < size ) - maybeDest = null; // by nulling this out we ensure that we do fresh allocations as maybeDest is too small - - final int val1 = decodeInt(type); - if ( val1 == type.getMissingBytes() ) { - // fast path for first element being missing - for ( int i = 1; i < size; i++ ) decodeInt(type); - return null; - } else { - // we know we will have at least 1 element, so making the int[] is worth it - final int[] ints = maybeDest == null ? new int[size] : maybeDest; - ints[0] = val1; // we already read the first one - for ( int i = 1; i < size; i++ ) { - ints[i] = decodeInt(type); - if ( ints[i] == type.getMissingBytes() ) { - // read the rest of the missing values, dropping them - for ( int j = i + 1; j < size; j++ ) decodeInt(type); - // deal with auto-pruning by returning an int[] containing - // only the non-MISSING values. We do this by copying the first - // i elements, as i itself is missing - return Arrays.copyOf(ints, i); - } - } - return ints; // all of the elements were non-MISSING - } - } - } - - public final int[] decodeIntArray(final byte typeDescriptor, final int size) throws IOException { - final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); - return decodeIntArray(size, type, null); - } - - private double rawFloatToFloat(final int rawFloat) { - return (double)Float.intBitsToFloat(rawFloat); - } - - // ---------------------------------------------------------------------- - // - // Utility functions - // - // ---------------------------------------------------------------------- - - /** - * Read the size of the next block from inputStream - * - * @param inputStream - * @return - */ - public final int readBlockSize(final InputStream inputStream) throws IOException { - return BCF2Type.INT32.read(inputStream); - } - - /** - * Read all bytes for a BCF record block into a byte[], and return it - * - * Is smart about reading from the stream multiple times to fill the buffer, if necessary - * - * @param blockSizeInBytes number of bytes to read - * @param inputStream the stream to read from - * @return a non-null byte[] containing exactly blockSizeInBytes bytes from the inputStream - */ - @Requires({"blockSizeInBytes >= 0", "inputStream != null"}) - @Ensures("result != null") - private static byte[] readRecordBytes(final int blockSizeInBytes, final InputStream inputStream) { - assert blockSizeInBytes >= 0; - - final byte[] record = new byte[blockSizeInBytes]; - try { - int bytesRead = 0; - int nReadAttempts = 0; // keep track of how many times we've read - - // because we might not read enough bytes from the file in a single go, do it in a loop until we get EOF - while ( bytesRead < blockSizeInBytes ) { - final int read1 = inputStream.read(record, bytesRead, blockSizeInBytes - bytesRead); - if ( read1 == -1 ) - validateReadBytes(bytesRead, nReadAttempts, blockSizeInBytes); - else - bytesRead += read1; - } - - if ( GeneralUtils.DEBUG_MODE_ENABLED && nReadAttempts > 1 ) { // TODO -- remove me - System.err.println("Required multiple read attempts to actually get the entire BCF2 block, unexpected behavior"); - } - - validateReadBytes(bytesRead, nReadAttempts, blockSizeInBytes); - } catch ( IOException e ) { - throw new TribbleException("I/O error while reading BCF2 file", e); - } - - return record; - } - - /** - * Make sure we read the right number of bytes, or throw an error - * - * @param actuallyRead - * @param nReadAttempts - * @param expected - */ - private static void validateReadBytes(final int actuallyRead, final int nReadAttempts, final int expected) { - assert expected >= 0; - - if ( actuallyRead < expected ) { - throw new TribbleException( - String.format("Failed to read next complete record: expected %d bytes but read only %d after %d iterations", - expected, actuallyRead, nReadAttempts)); - } - } - - public final byte readTypeDescriptor() throws IOException { - return BCF2Utils.readByte(recordStream); - } -} diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCF2GenotypeFieldDecoders.java b/public/java/src/org/broadinstitute/variant/bcf2/BCF2GenotypeFieldDecoders.java deleted file mode 100644 index 87d676526..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCF2GenotypeFieldDecoders.java +++ /dev/null @@ -1,284 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broadinstitute.variant.vcf.VCFConstants; -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.Allele; -import org.broadinstitute.variant.variantcontext.GenotypeBuilder; - -import java.io.IOException; -import java.util.*; - -/** - * An efficient scheme for building and obtaining specialized - * genotype field decoders. Used by the BCFCodec to parse - * with little overhead the fields from BCF2 encoded genotype - * records - * - * @author Mark DePristo - * @since 6/12 - */ -public class BCF2GenotypeFieldDecoders { - private final static boolean ENABLE_FASTPATH_GT = true; - private final static int MIN_SAMPLES_FOR_FASTPATH_GENOTYPES = 0; // TODO -- update to reasonable number - - // initialized once per writer to allow parallel writers to work - private final HashMap genotypeFieldDecoder = new HashMap(); - private final Decoder defaultDecoder = new GenericDecoder(); - - public BCF2GenotypeFieldDecoders(final VCFHeader header) { - // TODO -- fill in appropriate decoders for each FORMAT field in the header - - genotypeFieldDecoder.put(VCFConstants.GENOTYPE_KEY, new GTDecoder()); - // currently the generic decoder handles FILTER values properly, in so far as we don't tolerate multiple filter field values per genotype - genotypeFieldDecoder.put(VCFConstants.GENOTYPE_FILTER_KEY, new FTDecoder()); - genotypeFieldDecoder.put(VCFConstants.DEPTH_KEY, new DPDecoder()); - genotypeFieldDecoder.put(VCFConstants.GENOTYPE_ALLELE_DEPTHS, new ADDecoder()); - genotypeFieldDecoder.put(VCFConstants.GENOTYPE_PL_KEY, new PLDecoder()); - genotypeFieldDecoder.put(VCFConstants.GENOTYPE_QUALITY_KEY, new GQDecoder()); - } - - // ----------------------------------------------------------------- - // - // Genotype field decoder - // - // ----------------------------------------------------------------- - - /** - * Return decoder appropriate for field, or the generic decoder if no - * specialized one is bound - * @param field the GT field to decode - * @return a non-null decoder - */ - @Requires("field != null") - @Ensures("result != null") - public Decoder getDecoder(final String field) { - final Decoder d = genotypeFieldDecoder.get(field); - return d == null ? defaultDecoder : d; - } - - /** - * Decoder a field (implicit from creation) encoded as - * typeDescriptor in the decoder object in the GenotypeBuilders - * one for each sample in order. - * - * The way this works is that this decode method - * iterates over the builders, decoding a genotype field - * in BCF2 for each sample from decoder. - * - * This system allows us to easily use specialized - * decoders for specific genotype field values. For example, - * we use a special decoder to directly read the BCF2 data for - * the PL field into a int[] rather than the generic List of Integer - */ - public interface Decoder { - @Requires({"siteAlleles != null", "! siteAlleles.isEmpty()", - "field != null", "decoder != null", "gbs != null", "gbs.length != 0"}) - public void decode(final List siteAlleles, - final String field, - final BCF2Decoder decoder, - final byte typeDescriptor, - final int numElements, - final GenotypeBuilder[] gbs) throws IOException; - } - - private class GTDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - if ( ENABLE_FASTPATH_GT && siteAlleles.size() == 2 && numElements == 2 && gbs.length >= MIN_SAMPLES_FOR_FASTPATH_GENOTYPES ) - fastBiallelicDiploidDecode(siteAlleles, decoder, typeDescriptor, gbs); - else { - generalDecode(siteAlleles, numElements, decoder, typeDescriptor, gbs); - } - } - - /** - * fast path for many samples with diploid genotypes - * - * The way this would work is simple. Create a List diploidGenotypes[] object - * After decoding the offset, if that sample is diploid compute the - * offset into the alleles vector which is simply offset = allele0 * nAlleles + allele1 - * if there's a value at diploidGenotypes[offset], use it, otherwise create the genotype - * cache it and use that - * - * Some notes. If there are nAlleles at the site, there are implicitly actually - * n + 1 options including - */ - @Requires("siteAlleles.size() == 2") - @SuppressWarnings({"unchecked"}) - private final void fastBiallelicDiploidDecode(final List siteAlleles, - final BCF2Decoder decoder, - final byte typeDescriptor, - final GenotypeBuilder[] gbs) throws IOException { - final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); - - final int nPossibleGenotypes = 3 * 3; - final Object allGenotypes[] = new Object[nPossibleGenotypes]; - - for ( final GenotypeBuilder gb : gbs ) { - final int a1 = decoder.decodeInt(type); - final int a2 = decoder.decodeInt(type); - - if ( a1 == type.getMissingBytes() ) { - assert a2 == type.getMissingBytes(); - // no called sample GT = . - gb.alleles(null); - } else if ( a2 == type.getMissingBytes() ) { - gb.alleles(Arrays.asList(getAlleleFromEncoded(siteAlleles, a1))); - } else { - // downshift to remove phase - final int offset = (a1 >> 1) * 3 + (a2 >> 1); - assert offset < allGenotypes.length; - - // TODO -- how can I get rid of this cast? - List gt = (List)allGenotypes[offset]; - if ( gt == null ) { - final Allele allele1 = getAlleleFromEncoded(siteAlleles, a1); - final Allele allele2 = getAlleleFromEncoded(siteAlleles, a2); - gt = Arrays.asList(allele1, allele2); - allGenotypes[offset] = gt; - } - - gb.alleles(gt); - } - - final boolean phased = (a1 & 0x01) == 1; - gb.phased(phased); - } - } - - private final void generalDecode(final List siteAlleles, - final int ploidy, - final BCF2Decoder decoder, - final byte typeDescriptor, - final GenotypeBuilder[] gbs) throws IOException { - final BCF2Type type = BCF2Utils.decodeType(typeDescriptor); - - // a single cache for the encoded genotypes, since we don't actually need this vector - final int[] tmp = new int[ploidy]; - - for ( final GenotypeBuilder gb : gbs ) { - final int[] encoded = decoder.decodeIntArray(ploidy, type, tmp); - if ( encoded == null ) - // no called sample GT = . - gb.alleles(null); - else { - assert encoded.length > 0; - - // we have at least some alleles to decode - final List gt = new ArrayList(encoded.length); - - // note that the auto-pruning of fields magically handles different - // ploidy per sample at a site - for ( final int encode : encoded ) - gt.add(getAlleleFromEncoded(siteAlleles, encode)); - - gb.alleles(gt); - final boolean phased = (encoded[0] & 0x01) == 1; - gb.phased(phased); - } - } - } - - @Requires({"siteAlleles != null && ! siteAlleles.isEmpty()", "encode >= 0"}) - @Ensures("result != null") - private final Allele getAlleleFromEncoded(final List siteAlleles, final int encode) { - final int offset = encode >> 1; - return offset == 0 ? Allele.NO_CALL : siteAlleles.get(offset - 1); - } - } - - private class DPDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - for ( final GenotypeBuilder gb : gbs ) { - // the -1 is for missing - gb.DP(decoder.decodeInt(typeDescriptor, -1)); - } - } - } - - private class GQDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - for ( final GenotypeBuilder gb : gbs ) { - // the -1 is for missing - gb.GQ(decoder.decodeInt(typeDescriptor, -1)); - } - } - } - - private class ADDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - for ( final GenotypeBuilder gb : gbs ) { - gb.AD(decoder.decodeIntArray(typeDescriptor, numElements)); - } - } - } - - private class PLDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - for ( final GenotypeBuilder gb : gbs ) { - gb.PL(decoder.decodeIntArray(typeDescriptor, numElements)); - } - } - } - - private class GenericDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - for ( final GenotypeBuilder gb : gbs ) { - Object value = decoder.decodeTypedValue(typeDescriptor, numElements); - if ( value != null ) { // don't add missing values - if ( value instanceof List && ((List)value).size() == 1) { - // todo -- I really hate this, and it suggests that the code isn't completely right - // the reason it's here is that it's possible to prune down a vector to a singleton - // value and there we have the contract that the value comes back as an atomic value - // not a vector of size 1 - value = ((List)value).get(0); - } - gb.attribute(field, value); - } - } - } - } - - private class FTDecoder implements Decoder { - @Override - public void decode(final List siteAlleles, final String field, final BCF2Decoder decoder, final byte typeDescriptor, final int numElements, final GenotypeBuilder[] gbs) throws IOException { - for ( final GenotypeBuilder gb : gbs ) { - Object value = decoder.decodeTypedValue(typeDescriptor, numElements); - assert value == null || value instanceof String; - gb.filter((String)value); - } - } - } -} diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCF2LazyGenotypesDecoder.java b/public/java/src/org/broadinstitute/variant/bcf2/BCF2LazyGenotypesDecoder.java deleted file mode 100644 index ffbfe81e6..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCF2LazyGenotypesDecoder.java +++ /dev/null @@ -1,97 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import com.google.java.contract.Requires; -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.variantcontext.*; - -import java.io.IOException; -import java.util.*; - -/** - * Lazy version of genotypes decoder for BCF2 genotypes - * - * @author Mark DePristo - * @since 5/12 - */ -public class BCF2LazyGenotypesDecoder implements LazyGenotypesContext.LazyParser { - // the essential information for us to use to decode the genotypes data - // initialized when this lazy decoder is created, as we know all of this from the BCF2Codec - // and its stored here again for code cleanliness - private final BCF2Codec codec; - private final List siteAlleles; - private final int nSamples; - private final int nFields; - private final GenotypeBuilder[] builders; - - @Requires("codec.getHeader().getNGenotypeSamples() == builders.length") - BCF2LazyGenotypesDecoder(final BCF2Codec codec, final List alleles, final int nSamples, - final int nFields, final GenotypeBuilder[] builders) { - this.codec = codec; - this.siteAlleles = alleles; - this.nSamples = nSamples; - this.nFields = nFields; - this.builders = builders; - } - - @Override - public LazyGenotypesContext.LazyData parse(final Object data) { - try { - - // load our byte[] data into the decoder - final BCF2Decoder decoder = new BCF2Decoder(((BCF2Codec.LazyData)data).bytes); - - for ( int i = 0; i < nSamples; i++ ) - builders[i].reset(true); - - for ( int i = 0; i < nFields; i++ ) { - // get the field name - final int offset = (Integer) decoder.decodeTypedValue(); - final String field = codec.getDictionaryString(offset); - - // the type of each element - final byte typeDescriptor = decoder.readTypeDescriptor(); - final int numElements = decoder.decodeNumberOfElements(typeDescriptor); - final BCF2GenotypeFieldDecoders.Decoder fieldDecoder = codec.getGenotypeFieldDecoder(field); - try { - fieldDecoder.decode(siteAlleles, field, decoder, typeDescriptor, numElements, builders); - } catch ( ClassCastException e ) { - throw new TribbleException("BUG: expected encoding of field " + field - + " inconsistent with the value observed in the decoded value"); - } - } - - final ArrayList genotypes = new ArrayList(nSamples); - for ( final GenotypeBuilder gb : builders ) - genotypes.add(gb.make()); - - return new LazyGenotypesContext.LazyData(genotypes, codec.getHeader().getSampleNamesInOrder(), codec.getHeader().getSampleNameToOffset()); - } catch ( IOException e ) { - throw new TribbleException("Unexpected IOException parsing already read genotypes data block", e); - } - } -} diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Type.java b/public/java/src/org/broadinstitute/variant/bcf2/BCF2Type.java deleted file mode 100644 index 4504b8d75..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Type.java +++ /dev/null @@ -1,219 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import com.google.java.contract.Requires; - -import java.io.IOException; -import java.io.InputStream; -import java.io.OutputStream; -import java.util.EnumSet; - -/** - * BCF2 types and associated information - * - * @author depristo - * @since 05/12 - */ -public enum BCF2Type { - // the actual values themselves - MISSING(0, 0, 0x00) { - @Override public int read(final InputStream in) throws IOException { - throw new IllegalArgumentException("Cannot read MISSING type"); - } - @Override public void write(final int value, final OutputStream out) throws IOException { - throw new IllegalArgumentException("Cannot write MISSING type"); - } - }, - - INT8 (1, 1, 0xFFFFFF80, -127, 127) { - @Override - public int read(final InputStream in) throws IOException { - return BCF2Utils.readByte(in); - } - - @Override - public void write(final int value, final OutputStream out) throws IOException { - out.write(0xFF & value); // TODO -- do we need this operation? - } - }, - - INT16(2, 2, 0xFFFF8000, -32767, 32767) { - @Override - public int read(final InputStream in) throws IOException { - final int b2 = BCF2Utils.readByte(in) & 0xFF; - final int b1 = BCF2Utils.readByte(in) & 0xFF; - return (short)((b1 << 8) | b2); - } - - @Override - public void write(final int value, final OutputStream out) throws IOException { - // TODO -- optimization -- should we put this in a local buffer? - out.write((0x00FF & value)); - out.write((0xFF00 & value) >> 8); - } - }, - - INT32(3, 4, 0x80000000, -2147483647, 2147483647) { - @Override - public int read(final InputStream in) throws IOException { - final int b4 = BCF2Utils.readByte(in) & 0xFF; - final int b3 = BCF2Utils.readByte(in) & 0xFF; - final int b2 = BCF2Utils.readByte(in) & 0xFF; - final int b1 = BCF2Utils.readByte(in) & 0xFF; - return (int)(b1 << 24 | b2 << 16 | b3 << 8 | b4); - } - - @Override - public void write(final int value, final OutputStream out) throws IOException { - out.write((0x000000FF & value)); - out.write((0x0000FF00 & value) >> 8); - out.write((0x00FF0000 & value) >> 16); - out.write((0xFF000000 & value) >> 24); - } - }, - - FLOAT(5, 4, 0x7F800001) { - @Override - public int read(final InputStream in) throws IOException { - return INT32.read(in); - } - - @Override - public void write(final int value, final OutputStream out) throws IOException { - INT32.write(value, out); - } - }, - - CHAR (7, 1, 0x00000000) { - @Override - public int read(final InputStream in) throws IOException { - return INT8.read(in); - } - - @Override - public void write(final int value, final OutputStream out) throws IOException { - INT8.write(value, out); - } - }; - - private final int id; - private final Object missingJavaValue; - private final int missingBytes; - private final int sizeInBytes; - private final long minValue, maxValue; - - BCF2Type(final int id, final int sizeInBytes, final int missingBytes) { - this(id, sizeInBytes, missingBytes, 0, 0); - } - - BCF2Type(final int id, final int sizeInBytes, final int missingBytes, final long minValue, final long maxValue) { - this.id = id; - this.sizeInBytes = sizeInBytes; - this.missingJavaValue = null; - this.missingBytes = missingBytes; - this.minValue = minValue; - this.maxValue = maxValue; - } - - /** - * How many bytes are used to represent this type on disk? - * @return - */ - public int getSizeInBytes() { - return sizeInBytes; - } - - /** - * The ID according to the BCF2 specification - * @return - */ - public int getID() { return id; } - - /** - * Can we encode value v in this type, according to its declared range. - * - * Only makes sense for integer values - * - * @param v - * @return - */ - @Requires("this.isIntegerType()") - public final boolean withinRange(final long v) { return v >= minValue && v <= maxValue; } - - /** - * Return the java object (aka null) that is used to represent a missing value for this - * type in Java - * - * @return - */ - public Object getMissingJavaValue() { return missingJavaValue; } - - /** - * The bytes (encoded as an int) that are used to represent a missing value - * for this type in BCF2 - * - * @return - */ - public int getMissingBytes() { return missingBytes; } - - /** - * An enum set of the types that might represent Integer values - */ - private final static EnumSet INTEGERS = EnumSet.of(INT8, INT16, INT32); - - /** - * @return true if this BCF2Type corresponds to the magic "MISSING" type (0x00) - */ - public boolean isMissingType() { - return this == MISSING; - } - - public boolean isIntegerType() { - return INTEGERS.contains(this); - } - - /** - * Read a value from in stream of this BCF2 type as an int [32 bit] collection of bits - * - * For intX and char values this is just the int / byte value of the underlying data represented as a 32 bit int - * For a char the result must be converted to a char by (char)(byte)(0x0F & value) - * For doubles it's necessary to convert subsequently this value to a double via Double.bitsToDouble() - * - * @param in - * @return - * @throws IOException - */ - @Requires("in != null") - public int read(final InputStream in) throws IOException { - throw new IllegalArgumentException("Not implemented"); - } - - @Requires("out != null") - public void write(final int value, final OutputStream out) throws IOException { - throw new IllegalArgumentException("Not implemented"); - } -} diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Utils.java b/public/java/src/org/broadinstitute/variant/bcf2/BCF2Utils.java deleted file mode 100644 index 0b16fd52b..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCF2Utils.java +++ /dev/null @@ -1,333 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.vcf.*; - -import java.io.*; -import java.util.*; - -/** - * Common utilities for working with BCF2 files - * - * Includes convenience methods for encoding, decoding BCF2 type descriptors (size + type) - * - * @author depristo - * @since 5/12 - */ -public final class BCF2Utils { - public static final int MAX_ALLELES_IN_GENOTYPES = 127; - - public static final int OVERFLOW_ELEMENT_MARKER = 15; - public static final int MAX_INLINE_ELEMENTS = 14; - - public final static BCF2Type[] INTEGER_TYPES_BY_SIZE = new BCF2Type[]{BCF2Type.INT8, BCF2Type.INT16, BCF2Type.INT32}; - public final static BCF2Type[] ID_TO_ENUM; - - static { - int maxID = -1; - for ( BCF2Type v : BCF2Type.values() ) maxID = Math.max(v.getID(), maxID); - ID_TO_ENUM = new BCF2Type[maxID+1]; - for ( BCF2Type v : BCF2Type.values() ) ID_TO_ENUM[v.getID()] = v; - } - - private BCF2Utils() {} - - /** - * Create a strings dictionary from the VCF header - * - * The dictionary is an ordered list of common VCF identifers (FILTER, INFO, and FORMAT) - * fields. - * - * Note that its critical that the list be dedupped and sorted in a consistent manner each time, - * as the BCF2 offsets are encoded relative to this dictionary, and if it isn't determined exactly - * the same way as in the header each time it's very bad - * - * @param header the VCFHeader from which to build the dictionary - * @return a non-null dictionary of elements, may be empty - */ - @Requires("header != null") - @Ensures({"result != null", "new HashSet(result).size() == result.size()"}) - public static ArrayList makeDictionary(final VCFHeader header) { - final Set seen = new HashSet(); - final ArrayList dict = new ArrayList(); - - // special case the special PASS field which doesn't show up in the FILTER field definitions - seen.add(VCFConstants.PASSES_FILTERS_v4); - dict.add(VCFConstants.PASSES_FILTERS_v4); - - // set up the strings dictionary - for ( VCFHeaderLine line : header.getMetaDataInInputOrder() ) { - if ( line instanceof VCFIDHeaderLine && ! (line instanceof VCFContigHeaderLine) ) { - final VCFIDHeaderLine idLine = (VCFIDHeaderLine)line; - if ( ! seen.contains(idLine.getID())) { - dict.add(idLine.getID()); - seen.add(idLine.getID()); - } - } - } - - return dict; - } - - @Requires({"nElements >= 0", "nElements <= OVERFLOW_ELEMENT_MARKER", "type != null"}) - public static byte encodeTypeDescriptor(final int nElements, final BCF2Type type ) { - return (byte)((0x0F & nElements) << 4 | (type.getID() & 0x0F)); - } - - @Ensures("result >= 0") - public static int decodeSize(final byte typeDescriptor) { - return (0xF0 & typeDescriptor) >> 4; - } - - @Ensures("result >= 0") - public static int decodeTypeID(final byte typeDescriptor) { - return typeDescriptor & 0x0F; - } - - @Ensures("result != null") - public static BCF2Type decodeType(final byte typeDescriptor) { - return ID_TO_ENUM[decodeTypeID(typeDescriptor)]; - } - - public static boolean sizeIsOverflow(final byte typeDescriptor) { - return decodeSize(typeDescriptor) == OVERFLOW_ELEMENT_MARKER; - } - - public static byte readByte(final InputStream stream) throws IOException { - return (byte)(stream.read() & 0xFF); - } - - /** - * Collapse multiple strings into a comma separated list - * - * ["s1", "s2", "s3"] => ",s1,s2,s3" - * - * @param strings size > 1 list of strings - * @return - */ - @Requires({"strings != null"}) - @Ensures("result != null") - public static String collapseStringList(final List strings) { - if ( strings.isEmpty() ) return ""; - else if ( strings.size() == 1 ) return strings.get(0); - else { - final StringBuilder b = new StringBuilder(); - for ( final String s : strings ) { - if ( s != null ) { - assert s.indexOf(",") == -1; // no commas in individual strings - b.append(",").append(s); - } - } - return b.toString(); - } - } - - /** - * Inverse operation of collapseStringList. - * - * ",s1,s2,s3" => ["s1", "s2", "s3"] - * - * - * @param collapsed - * @return - */ - @Requires({"collapsed != null", "isCollapsedString(collapsed)"}) - @Ensures("result != null") - public static List explodeStringList(final String collapsed) { - assert isCollapsedString(collapsed); - final String[] exploded = collapsed.substring(1).split(","); - return Arrays.asList(exploded); - } - - @Requires("s != null") - public static boolean isCollapsedString(final String s) { - return s.length() > 0 && s.charAt(0) == ','; - } - - /** - * Returns a good name for a shadow BCF file for vcfFile. - * - * foo.vcf => foo.bcf - * foo.xxx => foo.xxx.bcf - * - * If the resulting BCF file cannot be written, return null. Happens - * when vcfFile = /dev/null for example - * - * @param vcfFile - * @return the BCF - */ - @Requires("vcfFile != null") - public static final File shadowBCF(final File vcfFile) { - final String path = vcfFile.getAbsolutePath(); - if ( path.contains(".vcf") ) - return new File(path.replace(".vcf", ".bcf")); - else { - final File bcf = new File( path + ".bcf" ); - if ( bcf.canRead() ) - return bcf; - else { - try { - // this is the only way to robustly decide if we could actually write to BCF - final FileOutputStream o = new FileOutputStream(bcf); - o.close(); - bcf.delete(); - return bcf; - } catch ( FileNotFoundException e ) { - return null; - } catch ( IOException e ) { - return null; - } - } - } - } - - @Ensures("result.isIntegerType()") - public static BCF2Type determineIntegerType(final int value) { - for ( final BCF2Type potentialType : INTEGER_TYPES_BY_SIZE) { - if ( potentialType.withinRange(value) ) - return potentialType; - } - - throw new TribbleException("Integer cannot be encoded in allowable range of even INT32: " + value); - } - - @Ensures("result.isIntegerType()") - public static BCF2Type determineIntegerType(final int[] values) { - // find the min and max values in the array - int max = 0, min = 0; - for ( final int v : values ) { - if ( v > max ) max = v; - if ( v < min ) min = v; - } - - final BCF2Type maxType = determineIntegerType(max); - final BCF2Type minType = determineIntegerType(min); - - // INT8 < INT16 < INT32 so this returns the larger of the two - return maxType.compareTo(minType) >= 0 ? maxType : minType; - } - - /** - * Returns the maximum BCF2 integer size of t1 and t2 - * - * For example, if t1 == INT8 and t2 == INT16 returns INT16 - * - * @param t1 - * @param t2 - * @return - */ - @Requires({"t1.isIntegerType()","t2.isIntegerType()"}) - @Ensures("result.isIntegerType()") - public static BCF2Type maxIntegerType(final BCF2Type t1, final BCF2Type t2) { - switch ( t1 ) { - case INT8: return t2; - case INT16: return t2 == BCF2Type.INT32 ? t2 : t1; - case INT32: return t1; - default: throw new TribbleException("BUG: unexpected BCF2Type " + t1); - } - } - - @Ensures("result.isIntegerType()") - public static BCF2Type determineIntegerType(final List values) { - BCF2Type maxType = BCF2Type.INT8; - for ( final int value : values ) { - final BCF2Type type1 = determineIntegerType(value); - switch ( type1 ) { - case INT8: break; - case INT16: maxType = BCF2Type.INT16; break; - case INT32: return BCF2Type.INT32; // fast path for largest possible value - default: throw new TribbleException("Unexpected integer type " + type1 ); - } - } - return maxType; - } - - /** - * Helper function that takes an object and returns a list representation - * of it: - * - * o == null => [] - * o is a list => o - * else => [o] - * - * @param o - * @return - */ - public static List toList(final Object o) { - if ( o == null ) return Collections.emptyList(); - else if ( o instanceof List ) return (List)o; - else return Collections.singletonList(o); - } - - /** - * Are the elements and their order in the output and input headers consistent so that - * we can write out the raw genotypes block without decoding and recoding it? - * - * If the order of INFO, FILTER, or contrig elements in the output header is different than - * in the input header we must decode the blocks using the input header and then recode them - * based on the new output order. - * - * If they are consistent, we can simply pass through the raw genotypes block bytes, which is - * a *huge* performance win for large blocks. - * - * Many common operations on BCF2 files (merging them for -nt, selecting a subset of records, etc) - * don't modify the ordering of the header fields and so can safely pass through the genotypes - * undecoded. Some operations -- those at add filters or info fields -- can change the ordering - * of the header fields and so produce invalid BCF2 files if the genotypes aren't decoded - */ - public static boolean headerLinesAreOrderedConsistently(final VCFHeader outputHeader, final VCFHeader genotypesBlockHeader) { - // first, we have to have the same samples in the same order - if ( ! nullAsEmpty(outputHeader.getSampleNamesInOrder()).equals(nullAsEmpty(genotypesBlockHeader.getSampleNamesInOrder())) ) - return false; - - final Iterator outputLinesIt = outputHeader.getIDHeaderLines().iterator(); - final Iterator inputLinesIt = genotypesBlockHeader.getIDHeaderLines().iterator(); - - while ( inputLinesIt.hasNext() ) { - if ( ! outputLinesIt.hasNext() ) // missing lines in output - return false; - - final VCFIDHeaderLine outputLine = outputLinesIt.next(); - final VCFIDHeaderLine inputLine = inputLinesIt.next(); - - if ( ! inputLine.getClass().equals(outputLine.getClass()) || ! inputLine.getID().equals(outputLine.getID()) ) - return false; - } - - return true; - } - - private static List nullAsEmpty(List l) { - if ( l == null ) - return Collections.emptyList(); - else - return l; - } -} diff --git a/public/java/src/org/broadinstitute/variant/bcf2/BCFVersion.java b/public/java/src/org/broadinstitute/variant/bcf2/BCFVersion.java deleted file mode 100644 index dcb2d60d8..000000000 --- a/public/java/src/org/broadinstitute/variant/bcf2/BCFVersion.java +++ /dev/null @@ -1,105 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import java.io.IOException; -import java.io.InputStream; -import java.io.OutputStream; -import java.util.Arrays; - -/** - * Simple holder for BCF version information - * - * User: depristo - * Date: 8/2/12 - * Time: 2:16 PM - */ -public class BCFVersion { - /** - * BCF2 begins with the MAGIC info BCF_M_m where M is the major version (currently 2) - * and m is the minor version, currently 1 - */ - public static final byte[] MAGIC_HEADER_START = "BCF".getBytes(); - - final int majorVersion; - final int minorVersion; - - public BCFVersion(int majorVersion, int minorVersion) { - this.majorVersion = majorVersion; - this.minorVersion = minorVersion; - } - - /** - * @return the major version number of this BCF file - */ - public int getMajorVersion() { - return majorVersion; - } - - /** - * @return the minor version number of this BCF file - */ - public int getMinorVersion() { - return minorVersion; - } - - /** - * Return a new BCFVersion object describing the major and minor version of the BCF file in stream - * - * Note that stream must be at the very start of the file. - * - * @param stream - * @return a BCFVersion object, or null if stream doesn't contain a BCF file - * @throws IOException - */ - public static BCFVersion readBCFVersion(final InputStream stream) throws IOException { - final byte[] magicBytes = new byte[MAGIC_HEADER_START.length]; - stream.read(magicBytes); - if ( Arrays.equals(magicBytes, MAGIC_HEADER_START) ) { - // we're a BCF file - final int majorByte = stream.read(); - final int minorByte = stream.read(); - return new BCFVersion( majorByte, minorByte ); - } else - return null; - } - - /** - * Write out the BCF magic information indicating this is a BCF file with corresponding major and minor versions - * @param out - * @throws IOException - */ - public void write(final OutputStream out) throws IOException { - out.write(MAGIC_HEADER_START); - out.write(getMajorVersion() & 0xFF); - out.write(getMinorVersion() & 0xFF); - } - - @Override - public String toString() { - return String.format("BCF%d.%d", getMajorVersion(), getMinorVersion()); - } -} diff --git a/public/java/src/org/broadinstitute/variant/utils/GeneralUtils.java b/public/java/src/org/broadinstitute/variant/utils/GeneralUtils.java deleted file mode 100644 index 2dbc865b5..000000000 --- a/public/java/src/org/broadinstitute/variant/utils/GeneralUtils.java +++ /dev/null @@ -1,242 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.utils; - -import java.util.*; - -/** - * Constants and utility methods used throughout the VCF/BCF/VariantContext classes - */ -public class GeneralUtils { - - /** - * Setting this to true causes the VCF/BCF/VariantContext classes to emit debugging information - * to standard error - */ - public static final boolean DEBUG_MODE_ENABLED = false; - - /** - * The smallest log10 value we'll emit from normalizeFromLog10 and other functions - * where the real-space value is 0.0. - */ - public final static double LOG10_P_OF_ZERO = -1000000.0; - - /** - * Returns a string of the form elt1.toString() [sep elt2.toString() ... sep elt.toString()] for a collection of - * elti objects (note there's no actual space between sep and the elti elements). Returns - * "" if collection is empty. If collection contains just elt, then returns elt.toString() - * - * @param separator the string to use to separate objects - * @param objects a collection of objects. the element order is defined by the iterator over objects - * @param the type of the objects - * @return a non-null string - */ - public static String join(final String separator, final Collection objects) { - if (objects.isEmpty()) { // fast path for empty collection - return ""; - } else { - final Iterator iter = objects.iterator(); - final T first = iter.next(); - - if ( ! iter.hasNext() ) // fast path for singleton collections - return first.toString(); - else { // full path for 2+ collection that actually need a join - final StringBuilder ret = new StringBuilder(first.toString()); - while(iter.hasNext()) { - ret.append(separator); - ret.append(iter.next().toString()); - } - return ret.toString(); - } - } - } - - /** - * normalizes the log10-based array. ASSUMES THAT ALL ARRAY ENTRIES ARE <= 0 (<= 1 IN REAL-SPACE). - * - * @param array the array to be normalized - * @return a newly allocated array corresponding the normalized values in array - */ - public static double[] normalizeFromLog10(double[] array) { - return normalizeFromLog10(array, false); - } - - /** - * normalizes the log10-based array. ASSUMES THAT ALL ARRAY ENTRIES ARE <= 0 (<= 1 IN REAL-SPACE). - * - * @param array the array to be normalized - * @param takeLog10OfOutput if true, the output will be transformed back into log10 units - * @return a newly allocated array corresponding the normalized values in array, maybe log10 transformed - */ - public static double[] normalizeFromLog10(double[] array, boolean takeLog10OfOutput) { - return normalizeFromLog10(array, takeLog10OfOutput, false); - } - - /** - * See #normalizeFromLog10 but with the additional option to use an approximation that keeps the calculation always in log-space - * - * @param array - * @param takeLog10OfOutput - * @param keepInLogSpace - * - * @return - */ - public static double[] normalizeFromLog10(double[] array, boolean takeLog10OfOutput, boolean keepInLogSpace) { - // for precision purposes, we need to add (or really subtract, since they're - // all negative) the largest value; also, we need to convert to normal-space. - double maxValue = arrayMax(array); - - // we may decide to just normalize in log space without converting to linear space - if (keepInLogSpace) { - for (int i = 0; i < array.length; i++) { - array[i] -= maxValue; - } - return array; - } - - // default case: go to linear space - double[] normalized = new double[array.length]; - - for (int i = 0; i < array.length; i++) - normalized[i] = Math.pow(10, array[i] - maxValue); - - // normalize - double sum = 0.0; - for (int i = 0; i < array.length; i++) - sum += normalized[i]; - for (int i = 0; i < array.length; i++) { - double x = normalized[i] / sum; - if (takeLog10OfOutput) { - x = Math.log10(x); - if ( x < LOG10_P_OF_ZERO || Double.isInfinite(x) ) - x = array[i] - maxValue; - } - - normalized[i] = x; - } - - return normalized; - } - - public static double arrayMax(final double[] array) { - return array[maxElementIndex(array, array.length)]; - } - - public static int maxElementIndex(final double[] array) { - return maxElementIndex(array, array.length); - } - - public static int maxElementIndex(final double[] array, final int endIndex) { - if (array == null || array.length == 0) - throw new IllegalArgumentException("Array cannot be null!"); - - int maxI = 0; - for (int i = 1; i < endIndex; i++) { - if (array[i] > array[maxI]) - maxI = i; - } - - return maxI; - } - - public static List cons(final T elt, final List l) { - List l2 = new ArrayList(); - l2.add(elt); - if (l != null) l2.addAll(l); - return l2; - } - - /** - * Make all combinations of N size of objects - * - * if objects = [A, B, C] - * if N = 1 => [[A], [B], [C]] - * if N = 2 => [[A, A], [B, A], [C, A], [A, B], [B, B], [C, B], [A, C], [B, C], [C, C]] - * - * @param objects - * @param n - * @param - * @param withReplacement if false, the resulting permutations will only contain unique objects from objects - * @return - */ - public static List> makePermutations(final List objects, final int n, final boolean withReplacement) { - final List> combinations = new ArrayList>(); - - if ( n <= 0 ) - ; - else if ( n == 1 ) { - for ( final T o : objects ) - combinations.add(Collections.singletonList(o)); - } else { - final List> sub = makePermutations(objects, n - 1, withReplacement); - for ( List subI : sub ) { - for ( final T a : objects ) { - if ( withReplacement || ! subI.contains(a) ) - combinations.add(cons(a, subI)); - } - } - } - - return combinations; - } - - /** - * Compares double values for equality (within 1e-6), or inequality. - * - * @param a the first double value - * @param b the second double value - * @return -1 if a is greater than b, 0 if a is equal to be within 1e-6, 1 if b is greater than a. - */ - public static byte compareDoubles(double a, double b) { - return compareDoubles(a, b, 1e-6); - } - - /** - * Compares double values for equality (within epsilon), or inequality. - * - * @param a the first double value - * @param b the second double value - * @param epsilon the precision within which two double values will be considered equal - * @return -1 if a is greater than b, 0 if a is equal to be within epsilon, 1 if b is greater than a. - */ - public static byte compareDoubles(double a, double b, double epsilon) { - if (Math.abs(a - b) < epsilon) { - return 0; - } - if (a > b) { - return -1; - } - return 1; - } - - static public final List reverse(final List l) { - final List newL = new ArrayList(l); - Collections.reverse(newL); - return newL; - } -} - - diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/Allele.java b/public/java/src/org/broadinstitute/variant/variantcontext/Allele.java deleted file mode 100644 index e0a6495a5..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/Allele.java +++ /dev/null @@ -1,476 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import net.sf.samtools.util.StringUtil; - -import java.util.Arrays; -import java.util.Collection; - -/** - * Immutable representation of an allele - * - * Types of alleles: - * - * Ref: a t C g a // C is the reference base - * - * : a t G g a // C base is a G in some individuals - * - * : a t - g a // C base is deleted w.r.t. the reference - * - * : a t CAg a // A base is inserted w.r.t. the reference sequence - * - * In these cases, where are the alleles? - * - * SNP polymorphism of C/G -> { C , G } -> C is the reference allele - * 1 base deletion of C -> { C , - } -> C is the reference allele - * 1 base insertion of A -> { - ; A } -> Null is the reference allele - * - * Suppose I see a the following in the population: - * - * Ref: a t C g a // C is the reference base - * : a t G g a // C base is a G in some individuals - * : a t - g a // C base is deleted w.r.t. the reference - * - * How do I represent this? There are three segregating alleles: - * - * { C , G , - } - * - * Now suppose I have this more complex example: - * - * Ref: a t C g a // C is the reference base - * : a t - g a - * : a t - - a - * : a t CAg a - * - * There are actually four segregating alleles: - * - * { C g , - g, - -, and CAg } over bases 2-4 - * - * However, the molecular equivalence explicitly listed above is usually discarded, so the actual - * segregating alleles are: - * - * { C g, g, -, C a g } - * - * Critically, it should be possible to apply an allele to a reference sequence to create the - * correct haplotype sequence: - * - * Allele + reference => haplotype - * - * For convenience, we are going to create Alleles where the GenomeLoc of the allele is stored outside of the - * Allele object itself. So there's an idea of an A/C polymorphism independent of it's surrounding context. - * - * Given list of alleles it's possible to determine the "type" of the variation - * - * A / C @ loc => SNP with - * - / A => INDEL - * - * If you know where allele is the reference, you can determine whether the variant is an insertion or deletion. - * - * Alelle also supports is concept of a NO_CALL allele. This Allele represents a haplotype that couldn't be - * determined. This is usually represented by a '.' allele. - * - * Note that Alleles store all bases as bytes, in **UPPER CASE**. So 'atc' == 'ATC' from the perspective of an - * Allele. - - * @author ebanks, depristo - */ -public class Allele implements Comparable { - private static final byte[] EMPTY_ALLELE_BASES = new byte[0]; - - private boolean isRef = false; - private boolean isNoCall = false; - private boolean isSymbolic = false; - - private byte[] bases = null; - - public final static String NO_CALL_STRING = "."; - /** A generic static NO_CALL allele for use */ - - // no public way to create an allele - protected Allele(byte[] bases, boolean isRef) { - // null alleles are no longer allowed - if ( wouldBeNullAllele(bases) ) { - throw new IllegalArgumentException("Null alleles are not supported"); - } - - // no-calls are represented as no bases - if ( wouldBeNoCallAllele(bases) ) { - this.bases = EMPTY_ALLELE_BASES; - isNoCall = true; - if ( isRef ) throw new IllegalArgumentException("Cannot tag a NoCall allele as the reference allele"); - return; - } - - if ( wouldBeSymbolicAllele(bases) ) { - isSymbolic = true; - if ( isRef ) throw new IllegalArgumentException("Cannot tag a symbolic allele as the reference allele"); - } - else { - StringUtil.toUpperCase(bases); - } - - this.isRef = isRef; - this.bases = bases; - - if ( ! acceptableAlleleBases(bases) ) - throw new IllegalArgumentException("Unexpected base in allele bases \'" + new String(bases)+"\'"); - } - - protected Allele(String bases, boolean isRef) { - this(bases.getBytes(), isRef); - } - - - private final static Allele REF_A = new Allele("A", true); - private final static Allele ALT_A = new Allele("A", false); - private final static Allele REF_C = new Allele("C", true); - private final static Allele ALT_C = new Allele("C", false); - private final static Allele REF_G = new Allele("G", true); - private final static Allele ALT_G = new Allele("G", false); - private final static Allele REF_T = new Allele("T", true); - private final static Allele ALT_T = new Allele("T", false); - private final static Allele REF_N = new Allele("N", true); - private final static Allele ALT_N = new Allele("N", false); - public final static Allele NO_CALL = new Allele(NO_CALL_STRING, false); - - // --------------------------------------------------------------------------------------------------------- - // - // creation routines - // - // --------------------------------------------------------------------------------------------------------- - - /** - * Create a new Allele that includes bases and if tagged as the reference allele if isRef == true. If bases - * == '-', a Null allele is created. If bases == '.', a no call Allele is created. - * - * @param bases the DNA sequence of this variation, '-', of '.' - * @param isRef should we make this a reference allele? - * @throws IllegalArgumentException if bases contains illegal characters or is otherwise malformated - */ - public static Allele create(byte[] bases, boolean isRef) { - if ( bases == null ) - throw new IllegalArgumentException("create: the Allele base string cannot be null; use new Allele() or new Allele(\"\") to create a Null allele"); - - if ( bases.length == 1 ) { - // optimization to return a static constant Allele for each single base object - switch (bases[0]) { - case '.': - if ( isRef ) throw new IllegalArgumentException("Cannot tag a NoCall allele as the reference allele"); - return NO_CALL; - case 'A': case 'a' : return isRef ? REF_A : ALT_A; - case 'C': case 'c' : return isRef ? REF_C : ALT_C; - case 'G': case 'g' : return isRef ? REF_G : ALT_G; - case 'T': case 't' : return isRef ? REF_T : ALT_T; - case 'N': case 'n' : return isRef ? REF_N : ALT_N; - default: throw new IllegalArgumentException("Illegal base [" + (char)bases[0] + "] seen in the allele"); - } - } else { - return new Allele(bases, isRef); - } - } - - public static Allele create(byte base, boolean isRef) { -// public Allele(byte base, boolean isRef) { - return create( new byte[]{ base }, isRef); - } - - public static Allele create(byte base) { - return create( base, false ); - } - - public static Allele extend(Allele left, byte[] right) { - if (left.isSymbolic()) - throw new IllegalArgumentException("Cannot extend a symbolic allele"); - byte[] bases = new byte[left.length() + right.length]; - System.arraycopy(left.getBases(), 0, bases, 0, left.length()); - System.arraycopy(right, 0, bases, left.length(), right.length); - - return create(bases, left.isReference()); - } - - /** - * @param bases bases representing an allele - * @return true if the bases represent the null allele - */ - public static boolean wouldBeNullAllele(byte[] bases) { - return (bases.length == 1 && bases[0] == '-') || bases.length == 0; - } - - /** - * @param bases bases representing an allele - * @return true if the bases represent the NO_CALL allele - */ - public static boolean wouldBeNoCallAllele(byte[] bases) { - return bases.length == 1 && bases[0] == '.'; - } - - /** - * @param bases bases representing an allele - * @return true if the bases represent a symbolic allele - */ - public static boolean wouldBeSymbolicAllele(byte[] bases) { - if ( bases.length <= 2 ) - return false; - else { - final String strBases = new String(bases); - return (bases[0] == '<' && bases[bases.length-1] == '>') || - (strBases.contains("[") || strBases.contains("]")); - } - } - - /** - * @param bases bases representing an allele - * @return true if the bases represent the well formatted allele - */ - public static boolean acceptableAlleleBases(String bases) { - return acceptableAlleleBases(bases.getBytes(), true); - } - - public static boolean acceptableAlleleBases(String bases, boolean allowNsAsAcceptable) { - return acceptableAlleleBases(bases.getBytes(), allowNsAsAcceptable); - } - - /** - * @param bases bases representing an allele - * @return true if the bases represent the well formatted allele - */ - public static boolean acceptableAlleleBases(byte[] bases) { - return acceptableAlleleBases(bases, true); // default: N bases are acceptable - } - - public static boolean acceptableAlleleBases(byte[] bases, boolean allowNsAsAcceptable) { - if ( wouldBeNullAllele(bases) ) - return false; - - if ( wouldBeNoCallAllele(bases) || wouldBeSymbolicAllele(bases) ) - return true; - - for (byte base : bases ) { - switch (base) { - case 'A': case 'C': case 'G': case 'T': case 'a': case 'c': case 'g': case 't': - break; - case 'N' : case 'n' : - if (allowNsAsAcceptable) - break; - else - return false; - default: - return false; - } - } - - return true; - } - - /** - * @see Allele(byte[], boolean) - * - * @param bases bases representing an allele - * @param isRef is this the reference allele? - */ - public static Allele create(String bases, boolean isRef) { - //public Allele(String bases, boolean isRef) { - return create(bases.getBytes(), isRef); - } - - - /** - * Creates a non-Ref allele. @see Allele(byte[], boolean) for full information - * - * @param bases bases representing an allele - */ - public static Allele create(String bases) { - return create(bases, false); - } - - /** - * Creates a non-Ref allele. @see Allele(byte[], boolean) for full information - * - * @param bases bases representing an allele - */ - public static Allele create(byte[] bases) { - return create(bases, false); - //this(bases, false); - } - - // --------------------------------------------------------------------------------------------------------- - // - // accessor routines - // - // --------------------------------------------------------------------------------------------------------- - - // Returns true if this is the NO_CALL allele - public boolean isNoCall() { return isNoCall; } - // Returns true if this is not the NO_CALL allele - public boolean isCalled() { return ! isNoCall(); } - - // Returns true if this Allele is the reference allele - public boolean isReference() { return isRef; } - // Returns true if this Allele is not the reference allele - public boolean isNonReference() { return ! isReference(); } - - // Returns true if this Allele is symbolic (i.e. no well-defined base sequence) - public boolean isSymbolic() { return isSymbolic; } - - // Returns a nice string representation of this object - public String toString() { - return ( isNoCall() ? NO_CALL_STRING : getDisplayString() ) + (isReference() ? "*" : ""); - } - - /** - * Return the DNA bases segregating in this allele. Note this isn't reference polarized, - * so the Null allele is represented by a vector of length 0 - * - * @return the segregating bases - */ - public byte[] getBases() { return isSymbolic ? EMPTY_ALLELE_BASES : bases; } - - /** - * Return the DNA bases segregating in this allele in String format. - * This is useful, because toString() adds a '*' to reference alleles and getBases() returns garbage when you call toString() on it. - * - * @return the segregating bases - */ - public String getBaseString() { return isNoCall() ? NO_CALL_STRING : new String(getBases()); } - - /** - * Return the printed representation of this allele. - * Same as getBaseString(), except for symbolic alleles. - * For symbolic alleles, the base string is empty while the display string contains . - * - * @return the allele string representation - */ - public String getDisplayString() { return new String(bases); } - - /** - * Same as #getDisplayString() but returns the result as byte[]. - * - * Slightly faster then getDisplayString() - * - * @return the allele string representation - */ - public byte[] getDisplayBases() { return bases; } - - /** - * @param other the other allele - * - * @return true if these alleles are equal - */ - public boolean equals(Object other) { - return ( ! (other instanceof Allele) ? false : equals((Allele)other, false) ); - } - - /** - * @return hash code - */ - public int hashCode() { - int hash = 1; - for (int i = 0; i < bases.length; i++) - hash += (i+1) * bases[i]; - return hash; - } - - /** - * Returns true if this and other are equal. If ignoreRefState is true, then doesn't require both alleles has the - * same ref tag - * - * @param other allele to compare to - * @param ignoreRefState if true, ignore ref state in comparison - * @return true if this and other are equal - */ - public boolean equals(Allele other, boolean ignoreRefState) { - return this == other || (isRef == other.isRef || ignoreRefState) && isNoCall == other.isNoCall && (bases == other.bases || Arrays.equals(bases, other.bases)); - } - - /** - * @param test bases to test against - * - * @return true if this Allele contains the same bases as test, regardless of its reference status; handles Null and NO_CALL alleles - */ - public boolean basesMatch(byte[] test) { return !isSymbolic && (bases == test || Arrays.equals(bases, test)); } - - /** - * @param test bases to test against - * - * @return true if this Allele contains the same bases as test, regardless of its reference status; handles Null and NO_CALL alleles - */ - public boolean basesMatch(String test) { return basesMatch(test.toUpperCase().getBytes()); } - - /** - * @param test allele to test against - * - * @return true if this Allele contains the same bases as test, regardless of its reference status; handles Null and NO_CALL alleles - */ - public boolean basesMatch(Allele test) { return basesMatch(test.getBases()); } - - /** - * @return the length of this allele. Null and NO_CALL alleles have 0 length. - */ - public int length() { - return isSymbolic ? 0 : bases.length; - } - - // --------------------------------------------------------------------------------------------------------- - // - // useful static functions - // - // --------------------------------------------------------------------------------------------------------- - - public static Allele getMatchingAllele(Collection allAlleles, byte[] alleleBases) { - for ( Allele a : allAlleles ) { - if ( a.basesMatch(alleleBases) ) { - return a; - } - } - - if ( wouldBeNoCallAllele(alleleBases) ) - return NO_CALL; - else - return null; // couldn't find anything - } - - public int compareTo(Allele other) { - if ( isReference() && other.isNonReference() ) - return -1; - else if ( isNonReference() && other.isReference() ) - return 1; - else - return getBaseString().compareTo(other.getBaseString()); // todo -- potential performance issue - } - - public static boolean oneIsPrefixOfOther(Allele a1, Allele a2) { - if ( a2.length() >= a1.length() ) - return firstIsPrefixOfSecond(a1, a2); - else - return firstIsPrefixOfSecond(a2, a1); - } - - private static boolean firstIsPrefixOfSecond(Allele a1, Allele a2) { - String a1String = a1.getBaseString(); - return a2.getBaseString().substring(0, a1String.length()).equals(a1String); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/CommonInfo.java b/public/java/src/org/broadinstitute/variant/variantcontext/CommonInfo.java deleted file mode 100644 index 16fa52ee0..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/CommonInfo.java +++ /dev/null @@ -1,263 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -import org.broadinstitute.variant.vcf.VCFConstants; - -import java.util.*; - - -/** - * Common utility routines for VariantContext and Genotype - * - * @author depristo - */ -public final class CommonInfo { - public static final double NO_LOG10_PERROR = 1.0; - - private static Set NO_FILTERS = Collections.emptySet(); - private static Map NO_ATTRIBUTES = Collections.unmodifiableMap(new HashMap()); - - private double log10PError = NO_LOG10_PERROR; - private String name = null; - private Set filters = null; - private Map attributes = NO_ATTRIBUTES; - - public CommonInfo(String name, double log10PError, Set filters, Map attributes) { - this.name = name; - setLog10PError(log10PError); - this.filters = filters; - if ( attributes != null && ! attributes.isEmpty() ) { - this.attributes = attributes; - } - } - - /** - * @return the name - */ - public String getName() { - return name; - } - - /** - * Sets the name - * - * @param name the name associated with this information - */ - public void setName(String name) { - if ( name == null ) throw new IllegalArgumentException("Name cannot be null " + this); - this.name = name; - } - - - // --------------------------------------------------------------------------------------------------------- - // - // Filter - // - // --------------------------------------------------------------------------------------------------------- - - public Set getFiltersMaybeNull() { - return filters; - } - - public Set getFilters() { - return filters == null ? NO_FILTERS : Collections.unmodifiableSet(filters); - } - - public boolean filtersWereApplied() { - return filters != null; - } - - public boolean isFiltered() { - return filters == null ? false : filters.size() > 0; - } - - public boolean isNotFiltered() { - return ! isFiltered(); - } - - public void addFilter(String filter) { - if ( filters == null ) // immutable -> mutable - filters = new HashSet(); - - if ( filter == null ) throw new IllegalArgumentException("BUG: Attempting to add null filter " + this); - if ( getFilters().contains(filter) ) throw new IllegalArgumentException("BUG: Attempting to add duplicate filter " + filter + " at " + this); - filters.add(filter); - } - - public void addFilters(Collection filters) { - if ( filters == null ) throw new IllegalArgumentException("BUG: Attempting to add null filters at" + this); - for ( String f : filters ) - addFilter(f); - } - - // --------------------------------------------------------------------------------------------------------- - // - // Working with log error rates - // - // --------------------------------------------------------------------------------------------------------- - - public boolean hasLog10PError() { - return getLog10PError() != NO_LOG10_PERROR; - } - - /** - * @return the -1 * log10-based error estimate - */ - public double getLog10PError() { return log10PError; } - public double getPhredScaledQual() { return getLog10PError() * -10; } - - public void setLog10PError(double log10PError) { - if ( log10PError > 0 && log10PError != NO_LOG10_PERROR) - throw new IllegalArgumentException("BUG: log10PError cannot be > 0 : " + this.log10PError); - if ( Double.isInfinite(this.log10PError) ) - throw new IllegalArgumentException("BUG: log10PError should not be Infinity"); - if ( Double.isNaN(this.log10PError) ) - throw new IllegalArgumentException("BUG: log10PError should not be NaN"); - this.log10PError = log10PError; - } - - // --------------------------------------------------------------------------------------------------------- - // - // Working with attributes - // - // --------------------------------------------------------------------------------------------------------- - public void clearAttributes() { - attributes = new HashMap(); - } - - /** - * @return the attribute map - */ - public Map getAttributes() { - return Collections.unmodifiableMap(attributes); - } - - // todo -- define common attributes as enum - - public void setAttributes(Map map) { - clearAttributes(); - putAttributes(map); - } - - public void putAttribute(String key, Object value) { - putAttribute(key, value, false); - } - - public void putAttribute(String key, Object value, boolean allowOverwrites) { - if ( ! allowOverwrites && hasAttribute(key) ) - throw new IllegalStateException("Attempting to overwrite key->value binding: key = " + key + " this = " + this); - - if ( attributes == NO_ATTRIBUTES ) // immutable -> mutable - attributes = new HashMap(); - - attributes.put(key, value); - } - - public void removeAttribute(String key) { - if ( attributes == NO_ATTRIBUTES ) // immutable -> mutable - attributes = new HashMap(); - attributes.remove(key); - } - - public void putAttributes(Map map) { - if ( map != null ) { - // for efficiency, we can skip the validation if the map is empty - if ( attributes.size() == 0 ) { - if ( attributes == NO_ATTRIBUTES ) // immutable -> mutable - attributes = new HashMap(); - attributes.putAll(map); - } else { - for ( Map.Entry elt : map.entrySet() ) { - putAttribute(elt.getKey(), elt.getValue(), false); - } - } - } - } - - public boolean hasAttribute(String key) { - return attributes.containsKey(key); - } - - public int getNumAttributes() { - return attributes.size(); - } - - /** - * @param key the attribute key - * - * @return the attribute value for the given key (or null if not set) - */ - public Object getAttribute(String key) { - return attributes.get(key); - } - - public Object getAttribute(String key, Object defaultValue) { - if ( hasAttribute(key) ) - return attributes.get(key); - else - return defaultValue; - } - - public String getAttributeAsString(String key, String defaultValue) { - Object x = getAttribute(key); - if ( x == null ) return defaultValue; - if ( x instanceof String ) return (String)x; - return String.valueOf(x); // throws an exception if this isn't a string - } - - public int getAttributeAsInt(String key, int defaultValue) { - Object x = getAttribute(key); - if ( x == null || x == VCFConstants.MISSING_VALUE_v4 ) return defaultValue; - if ( x instanceof Integer ) return (Integer)x; - return Integer.valueOf((String)x); // throws an exception if this isn't a string - } - - public double getAttributeAsDouble(String key, double defaultValue) { - Object x = getAttribute(key); - if ( x == null ) return defaultValue; - if ( x instanceof Double ) return (Double)x; - if ( x instanceof Integer ) return (Integer)x; - return Double.valueOf((String)x); // throws an exception if this isn't a string - } - - public boolean getAttributeAsBoolean(String key, boolean defaultValue) { - Object x = getAttribute(key); - if ( x == null ) return defaultValue; - if ( x instanceof Boolean ) return (Boolean)x; - return Boolean.valueOf((String)x); // throws an exception if this isn't a string - } - -// public String getAttributeAsString(String key) { return (String.valueOf(getExtendedAttribute(key))); } // **NOTE**: will turn a null Object into the String "null" -// public int getAttributeAsInt(String key) { Object x = getExtendedAttribute(key); return x instanceof Integer ? (Integer)x : Integer.valueOf((String)x); } -// public double getAttributeAsDouble(String key) { Object x = getExtendedAttribute(key); return x instanceof Double ? (Double)x : Double.valueOf((String)x); } -// public boolean getAttributeAsBoolean(String key) { Object x = getExtendedAttribute(key); return x instanceof Boolean ? (Boolean)x : Boolean.valueOf((String)x); } -// public Integer getAttributeAsIntegerNoException(String key) { try {return getAttributeAsInt(key);} catch (Exception e) {return null;} } -// public Double getAttributeAsDoubleNoException(String key) { try {return getAttributeAsDouble(key);} catch (Exception e) {return null;} } -// public String getAttributeAsStringNoException(String key) { if (getExtendedAttribute(key) == null) return null; return getAttributeAsString(key); } -// public Boolean getAttributeAsBooleanNoException(String key) { try {return getAttributeAsBoolean(key);} catch (Exception e) {return null;} } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/FastGenotype.java b/public/java/src/org/broadinstitute/variant/variantcontext/FastGenotype.java deleted file mode 100644 index 2ed89147e..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/FastGenotype.java +++ /dev/null @@ -1,182 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -import com.google.java.contract.Requires; - -import java.util.*; - -/** - * This class encompasses all the basic information about a genotype. It is immutable. - * - * A genotype has several key fields - * - * -- a sample name, must be a non-null string - * - * -- an ordered list of alleles, intrepreted as the genotype of the sample, - * each allele for each chromosome given in order. If alleles = [a*, t] - * then the sample is a/t, with a (the reference from the *) the first - * chromosome and t on the second chromosome - * - * -- a isPhased marker indicting where the alleles are phased with respect to some global - * coordinate system. See VCF4.1 spec for a detailed discussion - * - * -- Inline, optimized ints and int[] values for: - * -- GQ: the phred-scaled genotype quality, of -1 if it's missing - * - * -- DP: the count of reads at this locus for this sample, of -1 if missing - * - * -- AD: an array of counts of reads at this locus, one for each Allele at the site. - * that is, for each allele in the surrounding VariantContext. Null if missing. - * - * -- PL: phred-scaled genotype likelihoods in standard VCF4.1 order for - * all combinations of the alleles in the surrounding VariantContext, given - * the ploidy of the sample (from the alleles vector). Null if missing. - * - * -- A general map from String keys to -> Object values for all other attributes in - * this genotype. Note that this map should not contain duplicate values for the - * standard bindings for GQ, DP, AD, and PL. Genotype filters can be put into - * this genotype, but it isn't respected by the GATK in analyses - * - * The only way to build a Genotype object is with a GenotypeBuilder, which permits values - * to be set in any order, which means that GenotypeBuilder may at some in the chain of - * sets pass through invalid states that are not permitted in a fully formed immutable - * Genotype. - * - * Note this is a simplified, refactored Genotype object based on the original - * generic (and slow) implementation from the original VariantContext + Genotype - * codebase. - * - * @author Mark DePristo - * @since 05/12 - */ -public final class FastGenotype extends Genotype { - private final List alleles; - private final boolean isPhased; - private final int GQ; - private final int DP; - private final int[] AD; - private final int[] PL; - private final Map extendedAttributes; - - /** - * The only way to make one of these, for use by GenotypeBuilder only - * - * @param sampleName - * @param alleles - * @param isPhased - * @param GQ - * @param DP - * @param AD - * @param PL - * @param extendedAttributes - */ - @Requires({ - "sampleName != null", - "alleles != null", - "GQ >= -1", - "DP >= -1", - "validADorPLField(AD)", - "validADorPLField(PL)", - "extendedAttributes != null", - "! hasForbiddenKey(extendedAttributes)"}) - protected FastGenotype(final String sampleName, - final List alleles, - final boolean isPhased, - final int GQ, - final int DP, - final int[] AD, - final int[] PL, - final String filters, - final Map extendedAttributes) { - super(sampleName, filters); - this.alleles = alleles; - this.isPhased = isPhased; - this.GQ = GQ; - this.DP = DP; - this.AD = AD; - this.PL = PL; - this.extendedAttributes = extendedAttributes; - } - - // --------------------------------------------------------------------------------------------------------- - // - // Implmenting the abstract methods - // - // --------------------------------------------------------------------------------------------------------- - - @Override public List getAlleles() { - return alleles; - } - - @Override public Allele getAllele(int i) { - return alleles.get(i); - } - - @Override public boolean isPhased() { - return isPhased; - } - - @Override public int getDP() { - return DP; - } - - @Override public int[] getAD() { - return AD; - } - - @Override public int getGQ() { - return GQ; - } - - @Override public int[] getPL() { - return PL; - } - - // --------------------------------------------------------------------------------------------------------- - // - // get routines for extended attributes - // - // --------------------------------------------------------------------------------------------------------- - - public Map getExtendedAttributes() { - return extendedAttributes; - } - - /** - * Is values a valid AD or PL field - * @param values - * @return - */ - private static boolean validADorPLField(final int[] values) { - if ( values != null ) - for ( int v : values ) - if ( v < 0 ) - return false; - return true; - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/Genotype.java b/public/java/src/org/broadinstitute/variant/variantcontext/Genotype.java deleted file mode 100644 index 3695c39eb..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/Genotype.java +++ /dev/null @@ -1,676 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -import com.google.java.contract.Ensures; -import com.google.java.contract.Invariant; -import com.google.java.contract.Requires; -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.vcf.VCFConstants; - -import java.util.*; - -/** - * This class encompasses all the basic information about a genotype. It is immutable. - * - * @author Mark DePristo - */ -@Invariant({ - "getAlleles() != null", - "getSampleName() != null", - "getPloidy() >= 0", - "! hasForbiddenKey(getExtendedAttributes())"}) -public abstract class Genotype implements Comparable { - /** - * A list of genotype field keys corresponding to values we - * manage inline in the Genotype object. They must not appear in the - * extended attributes map - */ - public final static Collection PRIMARY_KEYS = Arrays.asList( - VCFConstants.GENOTYPE_FILTER_KEY, - VCFConstants.GENOTYPE_KEY, - VCFConstants.GENOTYPE_QUALITY_KEY, - VCFConstants.DEPTH_KEY, - VCFConstants.GENOTYPE_ALLELE_DEPTHS, - VCFConstants.GENOTYPE_PL_KEY); - - public final static String PHASED_ALLELE_SEPARATOR = "|"; - public final static String UNPHASED_ALLELE_SEPARATOR = "/"; - - private final String sampleName; - private GenotypeType type = null; - private final String filters; - - protected Genotype(final String sampleName, final String filters) { - this.sampleName = sampleName; - this.filters = filters; - } - - /** - * @return the alleles for this genotype. Cannot be null. May be empty - */ - @Ensures("result != null") - public abstract List getAlleles(); - - /** - * Returns how many times allele appears in this genotype object? - * - * @param allele - * @return a value >= 0 indicating how many times the allele occurred in this sample's genotype - */ - @Requires("allele != null") - @Ensures("result >= 0") - public int countAllele(final Allele allele) { - int c = 0; - for ( final Allele a : getAlleles() ) - if ( a.equals(allele) ) - c++; - - return c; - } - - /** - * Get the ith allele in this genotype - * - * @param i the ith allele, must be < the ploidy, starting with 0 - * @return the allele at position i, which cannot be null - */ - @Requires({"i >=0 && i < getPloidy()", "getType() != GenotypeType.UNAVAILABLE"}) - @Ensures("result != null") - public abstract Allele getAllele(int i); - - /** - * Are the alleles phased w.r.t. the global phasing system? - * - * @return true if yes - */ - public abstract boolean isPhased(); - - /** - * What is the ploidy of this sample? - * - * @return the ploidy of this genotype. 0 if the site is no-called. - */ - @Ensures("result >= 0") - public int getPloidy() { - return getAlleles().size(); - } - - /** - * @return the sequencing depth of this sample, or -1 if this value is missing - */ - @Ensures("result >= -1") - public abstract int getDP(); - - /** - * @return the count of reads, one for each allele in the surrounding Variant context, - * matching the corresponding allele, or null if this value is missing. MUST - * NOT BE MODIFIED! - */ - public abstract int[] getAD(); - - /** - * Returns the name associated with this sample. - * - * @return a non-null String - */ - @Ensures("result != null") - public String getSampleName() { - return sampleName; - } - - /** - * Returns a phred-scaled quality score, or -1 if none is available - * @return - */ - @Ensures("result >= -1") - public abstract int getGQ(); - - /** - * Does the PL field have a value? - * @return true if there's a PL field value - */ - @Ensures("(result == false && getPL() == null) || (result == true && getPL() != null)") - public boolean hasPL() { - return getPL() != null; - } - - /** - * Does the AD field have a value? - * @return true if there's a AD field value - */ - @Ensures("(result == false && getAD() == null) || (result == true && getAD() != null)") - public boolean hasAD() { - return getAD() != null; - } - - /** - * Does the GQ field have a value? - * @return true if there's a GQ field value - */ - @Ensures("(result == false && getGQ() == -1) || (result == true && getGQ() >= 0)") - public boolean hasGQ() { - return getGQ() != -1; - } - - /** - * Does the DP field have a value? - * @return true if there's a DP field value - */ - @Ensures("(result == false && getDP() == -1) || (result == true && getDP() >= 0)") - public boolean hasDP() { - return getDP() != -1; - } - - // --------------------------------------------------------------------------------------------------------- - // - // The type of this genotype - // - // --------------------------------------------------------------------------------------------------------- - - /** - * @return the high-level type of this sample's genotype - */ - @Ensures({"type != null", "result != null"}) - public GenotypeType getType() { - if ( type == null ) { - type = determineType(); - } - return type; - } - - /** - * Internal code to determine the type of the genotype from the alleles vector - * @return the type - */ - @Requires("type == null") // we should never call if already calculated - protected GenotypeType determineType() { - // TODO -- this code is slow and could be optimized for the diploid case - final List alleles = getAlleles(); - if ( alleles.isEmpty() ) - return GenotypeType.UNAVAILABLE; - - boolean sawNoCall = false, sawMultipleAlleles = false; - Allele observedAllele = null; - - for ( final Allele allele : alleles ) { - if ( allele.isNoCall() ) - sawNoCall = true; - else if ( observedAllele == null ) - observedAllele = allele; - else if ( !allele.equals(observedAllele) ) - sawMultipleAlleles = true; - } - - if ( sawNoCall ) { - if ( observedAllele == null ) - return GenotypeType.NO_CALL; - return GenotypeType.MIXED; - } - - if ( observedAllele == null ) - throw new IllegalStateException("BUG: there are no alleles present in this genotype but the alleles list is not null"); - - return sawMultipleAlleles ? GenotypeType.HET : observedAllele.isReference() ? GenotypeType.HOM_REF : GenotypeType.HOM_VAR; - } - - /** - * @return true if all observed alleles are the same (regardless of whether they are ref or alt); if any alleles are no-calls, this method will return false. - */ - public boolean isHom() { return isHomRef() || isHomVar(); } - - /** - * @return true if all observed alleles are ref; if any alleles are no-calls, this method will return false. - */ - public boolean isHomRef() { return getType() == GenotypeType.HOM_REF; } - - /** - * @return true if all observed alleles are alt; if any alleles are no-calls, this method will return false. - */ - public boolean isHomVar() { return getType() == GenotypeType.HOM_VAR; } - - /** - * @return true if we're het (observed alleles differ); if the ploidy is less than 2 or if any alleles are no-calls, this method will return false. - */ - public boolean isHet() { return getType() == GenotypeType.HET; } - - /** - * @return true if this genotype is not actually a genotype but a "no call" (e.g. './.' in VCF); if any alleles are not no-calls (even if some are), this method will return false. - */ - public boolean isNoCall() { return getType() == GenotypeType.NO_CALL; } - - /** - * @return true if this genotype is comprised of any alleles that are not no-calls (even if some are). - */ - public boolean isCalled() { return getType() != GenotypeType.NO_CALL && getType() != GenotypeType.UNAVAILABLE; } - - /** - * @return true if this genotype is comprised of both calls and no-calls. - */ - public boolean isMixed() { return getType() == GenotypeType.MIXED; } - - /** - * @return true if the type of this genotype is set. - */ - public boolean isAvailable() { return getType() != GenotypeType.UNAVAILABLE; } - - // ------------------------------------------------------------------------------ - // - // methods for getting genotype likelihoods for a genotype object, if present - // - // ------------------------------------------------------------------------------ - - /** - * @return Returns true if this Genotype has PL field values - */ - @Ensures("(result && getLikelihoods() != null) || (! result && getLikelihoods() == null)") - public boolean hasLikelihoods() { - return getPL() != null; - } - - /** - * Convenience function that returns a string representation of the PL field of this - * genotype, or . if none is available. - * - * @return a non-null String representation for the PL of this sample - */ - @Ensures("result != null") - public String getLikelihoodsString() { - return hasLikelihoods() ? getLikelihoods().toString() : VCFConstants.MISSING_VALUE_v4; - } - - /** - * Returns the GenotypesLikelihoods data associated with this Genotype, or null if missing - * @return null or a GenotypesLikelihood object for this sample's PL field - */ - @Ensures("(hasLikelihoods() && result != null) || (! hasLikelihoods() && result == null)") - public GenotypeLikelihoods getLikelihoods() { - return hasLikelihoods() ? GenotypeLikelihoods.fromPLs(getPL()) : null; - } - - /** - * Are all likelihoods for this sample non-informative? - * - * Returns true if all PLs are 0 => 0,0,0 => true - * 0,0,0,0,0,0 => true - * 0,10,100 => false - * - * @return true if all samples PLs are equal and == 0 - */ - public boolean isNonInformative() { - if ( getPL() == null ) - return true; - else { - for ( final int PL : getPL() ) { - if ( PL != 0 ) - return false; - } - - return true; - } - } - - /** - * Unsafe low-level accessor the PL field itself, may be null. - * - * @return a pointer to the underlying PL data. MUST NOT BE MODIFIED! - */ - public abstract int[] getPL(); - - // --------------------------------------------------------------------------------------------------------- - // - // Many different string representations - // - // --------------------------------------------------------------------------------------------------------- - - /** - * Return a VCF-like string representation for the alleles of this genotype. - * - * Does not append the reference * marker on the alleles. - * - * @return a string representing the genotypes, or null if the type is unavailable. - */ - @Ensures("result != null || ! isAvailable()") - public String getGenotypeString() { - return getGenotypeString(true); - } - - /** - * Return a VCF-like string representation for the alleles of this genotype. - * - * If ignoreRefState is true, will not append the reference * marker on the alleles. - * - * @return a string representing the genotypes, or null if the type is unavailable. - */ - @Ensures("result != null || ! isAvailable()") - public String getGenotypeString(boolean ignoreRefState) { - if ( getPloidy() == 0 ) - return "NA"; - - // Notes: - // 1. Make sure to use the appropriate separator depending on whether the genotype is phased - // 2. If ignoreRefState is true, then we want just the bases of the Alleles (ignoring the '*' indicating a ref Allele) - // 3. So that everything is deterministic with regards to integration tests, we sort Alleles (when the genotype isn't phased, of course) - return ParsingUtils.join(isPhased() ? PHASED_ALLELE_SEPARATOR : UNPHASED_ALLELE_SEPARATOR, - ignoreRefState ? getAlleleStrings() : (isPhased() ? getAlleles() : ParsingUtils.sortList(getAlleles()))); - } - - /** - * Utility that returns a list of allele strings corresponding to the alleles in this sample - * @return - */ - protected List getAlleleStrings() { - final List al = new ArrayList(getPloidy()); - for ( Allele a : getAlleles() ) - al.add(a.getBaseString()); - - return al; - } - - public String toString() { - return String.format("[%s %s%s%s%s%s%s%s]", - getSampleName(), - getGenotypeString(false), - toStringIfExists(VCFConstants.GENOTYPE_QUALITY_KEY, getGQ()), - toStringIfExists(VCFConstants.DEPTH_KEY, getDP()), - toStringIfExists(VCFConstants.GENOTYPE_ALLELE_DEPTHS, getAD()), - toStringIfExists(VCFConstants.GENOTYPE_PL_KEY, getPL()), - toStringIfExists(VCFConstants.GENOTYPE_FILTER_KEY, getFilters()), - sortedString(getExtendedAttributes())); - } - - public String toBriefString() { - return String.format("%s:Q%d", getGenotypeString(false), getGQ()); - } - - // --------------------------------------------------------------------------------------------------------- - // - // Comparison operations - // - // --------------------------------------------------------------------------------------------------------- - - /** - * comparable genotypes -> compareTo on the sample names - * @param genotype - * @return - */ - @Override - public int compareTo(final Genotype genotype) { - return getSampleName().compareTo(genotype.getSampleName()); - } - - public boolean sameGenotype(final Genotype other) { - return sameGenotype(other, true); - } - - public boolean sameGenotype(final Genotype other, boolean ignorePhase) { - if (getPloidy() != other.getPloidy()) - return false; // gotta have the same number of allele to be equal - - // By default, compare the elements in the lists of alleles, element-by-element - Collection thisAlleles = this.getAlleles(); - Collection otherAlleles = other.getAlleles(); - - if (ignorePhase) { // do not care about order, only identity of Alleles - thisAlleles = new TreeSet(thisAlleles); //implemented Allele.compareTo() - otherAlleles = new TreeSet(otherAlleles); - } - - return thisAlleles.equals(otherAlleles); - } - - // --------------------------------------------------------------------------------------------------------- - // - // get routines for extended attributes - // - // --------------------------------------------------------------------------------------------------------- - - /** - * Returns the extended attributes for this object - * @return is never null, but is often isEmpty() - */ - @Ensures({"result != null", "! hasForbiddenKey(result)"}) - public abstract Map getExtendedAttributes(); - - /** - * Is key associated with a value (even a null one) in the extended attributes? - * - * Note this will not return true for the inline attributes DP, GQ, AD, or PL - * - * @param key a non-null string key to check for an association - * @return true if key has a value in the extendedAttributes - */ - @Requires({"key != null", "! isForbiddenKey(key)"}) - public boolean hasExtendedAttribute(final String key) { - return getExtendedAttributes().containsKey(key); - } - - /** - * Get the extended attribute value associated with key, if possible - * - * @param key a non-null string key to fetch a value for - * @param defaultValue the value to return if key isn't in the extended attributes - * @return a value (potentially) null associated with key, or defaultValue if no association exists - */ - @Requires({"key != null", "! isForbiddenKey(key)"}) - @Ensures("hasExtendedAttribute(key) || result == defaultValue") - public Object getExtendedAttribute(final String key, final Object defaultValue) { - return hasExtendedAttribute(key) ? getExtendedAttributes().get(key) : defaultValue; - } - - /** - * Same as #getExtendedAttribute with a null default - * - * @param key - * @return - */ - public Object getExtendedAttribute(final String key) { - return getExtendedAttribute(key, null); - } - - /** - * Returns the filter string associated with this Genotype. - * - * @return If this result == null, then the genotype is considered PASSing filters - * If the result != null, then the genotype has failed filtering for the reason(s) - * specified in result. To be reference compliant multiple filter field - * string values can be encoded with a ; separator. - */ - public final String getFilters() { - return filters; - } - - /** - * Is this genotype filtered or not? - * - * @return returns false if getFilters() == null - */ - @Ensures({"result != (getFilters() == null)"}) - public final boolean isFiltered() { - return getFilters() != null; - } - - @Deprecated public boolean hasLog10PError() { return hasGQ(); } - @Deprecated public double getLog10PError() { return getGQ() / -10.0; } - @Deprecated public int getPhredScaledQual() { return getGQ(); } - - @Deprecated - public String getAttributeAsString(String key, String defaultValue) { - Object x = getExtendedAttribute(key); - if ( x == null ) return defaultValue; - if ( x instanceof String ) return (String)x; - return String.valueOf(x); // throws an exception if this isn't a string - } - - @Deprecated - public int getAttributeAsInt(String key, int defaultValue) { - Object x = getExtendedAttribute(key); - if ( x == null || x == VCFConstants.MISSING_VALUE_v4 ) return defaultValue; - if ( x instanceof Integer ) return (Integer)x; - return Integer.valueOf((String)x); // throws an exception if this isn't a string - } - - @Deprecated - public double getAttributeAsDouble(String key, double defaultValue) { - Object x = getExtendedAttribute(key); - if ( x == null ) return defaultValue; - if ( x instanceof Double ) return (Double)x; - return Double.valueOf((String)x); // throws an exception if this isn't a string - } - - /** - * A totally generic getter, that allows you to specific keys that correspond - * to even inline values (GQ, for example). Can be very expensive. Additionally, - * all int[] are converted inline into List for convenience. - * - * @param key - * @return - */ - public Object getAnyAttribute(final String key) { - if (key.equals(VCFConstants.GENOTYPE_KEY)) { - return getAlleles(); - } else if (key.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { - return getGQ(); - } else if (key.equals(VCFConstants.GENOTYPE_ALLELE_DEPTHS)) { - return Arrays.asList(getAD()); - } else if (key.equals(VCFConstants.GENOTYPE_PL_KEY)) { - return Arrays.asList(getPL()); - } else if (key.equals(VCFConstants.DEPTH_KEY)) { - return getDP(); - } else { - return getExtendedAttribute(key); - } - } - - public boolean hasAnyAttribute(final String key) { - if (key.equals(VCFConstants.GENOTYPE_KEY)) { - return isAvailable(); - } else if (key.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { - return hasGQ(); - } else if (key.equals(VCFConstants.GENOTYPE_ALLELE_DEPTHS)) { - return hasAD(); - } else if (key.equals(VCFConstants.GENOTYPE_PL_KEY)) { - return hasPL(); - } else if (key.equals(VCFConstants.DEPTH_KEY)) { - return hasDP(); - } else { - return hasExtendedAttribute(key); - } - } - - // TODO -- add getAttributesAsX interface here - - // ------------------------------------------------------------------------------ - // - // private utilities - // - // ------------------------------------------------------------------------------ - - /** - * a utility method for generating sorted strings from a map key set. - * @param c the map - * @param the key type - * @param the value type - * @return a sting, enclosed in {}, with comma seperated key value pairs in order of the keys - */ - @Requires("c != null") - protected static , V> String sortedString(Map c) { - - // NOTE -- THIS IS COPIED FROM GATK UTILS TO ALLOW US TO KEEP A SEPARATION BETWEEN THE GATK AND VCF CODECS - final List t = new ArrayList(c.keySet()); - Collections.sort(t); - - final List pairs = new ArrayList(); - for (final T k : t) { - pairs.add(k + "=" + c.get(k)); - } - - return pairs.isEmpty() ? "" : " {" + ParsingUtils.join(", ", pairs.toArray(new String[pairs.size()])) + "}"; - } - - /** - * Returns a display name for field name with value v if this isn't -1. Otherwise returns "" - * @param name of the field ("AD") - * @param v the value of the field, or -1 if missing - * @return a non-null string for display if the field is not missing - */ - @Requires("name != null") - @Ensures("result != null") - protected final static String toStringIfExists(final String name, final int v) { - return v == -1 ? "" : " " + name + " " + v; - } - - /** - * Returns a display name for field name with String value v if this isn't null. Otherwise returns "" - * @param name of the field ("FT") - * @param v the value of the field, or null if missing - * @return a non-null string for display if the field is not missing - */ - protected final static String toStringIfExists(final String name, final String v) { - return v == null ? "" : " " + name + " " + v; - } - - /** - * Returns a display name for field name with values vs if this isn't null. Otherwise returns "" - * @param name of the field ("AD") - * @param vs the value of the field, or null if missing - * @return a non-null string for display if the field is not missing - */ - @Requires("name != null") - @Ensures("result != null") - protected final static String toStringIfExists(final String name, final int[] vs) { - if ( vs == null ) - return ""; - else { - StringBuilder b = new StringBuilder(); - b.append(" ").append(name).append(" "); - for ( int i = 0; i < vs.length; i++ ) { - if ( i != 0 ) b.append(","); - b.append(vs[i]); - } - return b.toString(); - } - } - - /** - * Does the attribute map have a mapping involving a forbidden key (i.e., - * one that's managed inline by this Genotypes object? - * - * @param attributes the extended attributes key - * @return - */ - protected final static boolean hasForbiddenKey(final Map attributes) { - for ( final String forbidden : PRIMARY_KEYS) - if ( attributes.containsKey(forbidden) ) - return true; - return false; - } - - protected final static boolean isForbiddenKey(final String key) { - return PRIMARY_KEYS.contains(key); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeBuilder.java b/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeBuilder.java deleted file mode 100644 index 31ba94231..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeBuilder.java +++ /dev/null @@ -1,419 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -import com.google.java.contract.Ensures; -import com.google.java.contract.Invariant; -import com.google.java.contract.Requires; -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.vcf.VCFConstants; - -import java.util.*; - -/** - * A builder class for genotypes - * - * Provides convenience setter methods for all of the Genotype field - * values. Setter methods can be used in any order, allowing you to - * pass through states that wouldn't be allowed in the highly regulated - * immutable Genotype class. - * - * All fields default to meaningful MISSING values. - * - * Call make() to actually create the corresponding Genotype object from - * this builder. Can be called multiple times to create independent copies, - * or with intervening sets to conveniently make similar Genotypes with - * slight modifications. - * - * @author Mark DePristo - * @since 06/12 - */ -@Invariant({"alleles != null"}) -public final class GenotypeBuilder { - private static final List HAPLOID_NO_CALL = Arrays.asList(Allele.NO_CALL); - private static final List DIPLOID_NO_CALL = Arrays.asList(Allele.NO_CALL, Allele.NO_CALL); - - private String sampleName = null; - private List alleles = Collections.emptyList(); - - private boolean isPhased = false; - private int GQ = -1; - private int DP = -1; - private int[] AD = null; - private int[] PL = null; - private Map extendedAttributes = null; - private String filters = null; - private int initialAttributeMapSize = 5; - - private final static Map NO_ATTRIBUTES = - Collections.unmodifiableMap(new HashMap(0)); - - // ----------------------------------------------------------------- - // - // Factory methods - // - // ----------------------------------------------------------------- - - public static Genotype create(final String sampleName, final List alleles) { - return new GenotypeBuilder(sampleName, alleles).make(); - } - - public static Genotype create(final String sampleName, - final List alleles, - final Map attributes) { - return new GenotypeBuilder(sampleName, alleles).attributes(attributes).make(); - } - - protected static Genotype create(final String sampleName, - final List alleles, - final double[] gls) { - return new GenotypeBuilder(sampleName, alleles).PL(gls).make(); - } - - /** - * Create a new Genotype object for a sample that's missing from the VC (i.e., in - * the output header). Defaults to a diploid no call genotype ./. - * - * @param sampleName the name of this sample - * @return an initialized Genotype with sampleName that's a diploid ./. no call genotype - */ - public static Genotype createMissing(final String sampleName, final int ploidy) { - final GenotypeBuilder builder = new GenotypeBuilder(sampleName); - switch ( ploidy ) { - case 1: builder.alleles(HAPLOID_NO_CALL); break; - case 2: builder.alleles(DIPLOID_NO_CALL); break; - default: builder.alleles(Collections.nCopies(ploidy, Allele.NO_CALL)); break; - } - return builder.make(); - } - - /** - * Create a empty builder. Both a sampleName and alleles must be provided - * before trying to make a Genotype from this builder. - */ - public GenotypeBuilder() {} - - /** - * Create a builder using sampleName. Alleles must be provided - * before trying to make a Genotype from this builder. - * @param sampleName - */ - public GenotypeBuilder(final String sampleName) { - name(sampleName); - } - - /** - * Make a builder using sampleName and alleles for starting values - * @param sampleName - * @param alleles - */ - public GenotypeBuilder(final String sampleName, final List alleles) { - name(sampleName); - alleles(alleles); - } - - /** - * Create a new builder starting with the values in Genotype g - * @param g - */ - public GenotypeBuilder(final Genotype g) { - copy(g); - } - - /** - * Copy all of the values for this builder from Genotype g - * @param g - * @return - */ - public GenotypeBuilder copy(final Genotype g) { - name(g.getSampleName()); - alleles(g.getAlleles()); - phased(g.isPhased()); - GQ(g.getGQ()); - DP(g.getDP()); - AD(g.getAD()); - PL(g.getPL()); - filter(g.getFilters()); - attributes(g.getExtendedAttributes()); - return this; - } - - /** - * Reset all of the builder attributes to their defaults. After this - * function you must provide sampleName and alleles before trying to - * make more Genotypes. - */ - public final void reset(final boolean keepSampleName) { - if ( ! keepSampleName ) sampleName = null; - alleles = Collections.emptyList(); - isPhased = false; - GQ = -1; - DP = -1; - AD = null; - PL = null; - filters = null; - extendedAttributes = null; - } - - /** - * Create a new Genotype object using the values set in this builder. - * - * After creation the values in this builder can be modified and more Genotypes - * created, althrough the contents of array values like PL should never be modified - * inline as they are not copied for efficiency reasons. - * - * @return a newly minted Genotype object with values provided from this builder - */ - @Ensures({"result != null"}) - public Genotype make() { - final Map ea = extendedAttributes == null ? NO_ATTRIBUTES : extendedAttributes; - return new FastGenotype(sampleName, alleles, isPhased, GQ, DP, AD, PL, filters, ea); - } - - /** - * Set this genotype's name - * @param sampleName - * @return - */ - @Requires({"sampleName != null"}) - @Ensures({"this.sampleName != null"}) - public GenotypeBuilder name(final String sampleName) { - this.sampleName = sampleName; - return this; - } - - /** - * Set this genotype's alleles - * @param alleles - * @return - */ - @Ensures({"this.alleles != null"}) - public GenotypeBuilder alleles(final List alleles) { - if ( alleles == null ) - this.alleles = Collections.emptyList(); - else - this.alleles = alleles; - return this; - } - - /** - * Is this genotype phased? - * @param phased - * @return - */ - public GenotypeBuilder phased(final boolean phased) { - isPhased = phased; - return this; - } - - @Requires({"GQ >= -1"}) - @Ensures({"this.GQ == GQ", "this.GQ >= -1"}) - public GenotypeBuilder GQ(final int GQ) { - this.GQ = GQ; - return this; - } - - /** - * Adaptor interface from the pLog10Error system. - * - * Will be retired when - * - * @param pLog10Error - * @return - */ - @Deprecated - public GenotypeBuilder log10PError(final double pLog10Error) { - if ( pLog10Error == CommonInfo.NO_LOG10_PERROR ) - return GQ(-1); - else - return GQ((int)Math.round(pLog10Error * -10)); - } - - /** - * This genotype has no GQ value - * @return - */ - public GenotypeBuilder noGQ() { GQ = -1; return this; } - - /** - * This genotype has no AD value - * @return - */ - public GenotypeBuilder noAD() { AD = null; return this; } - - /** - * This genotype has no DP value - * @return - */ - public GenotypeBuilder noDP() { DP = -1; return this; } - - /** - * This genotype has no PL value - * @return - */ - public GenotypeBuilder noPL() { PL = null; return this; } - - /** - * This genotype has this DP value - * @return - */ - @Requires({"DP >= -1"}) - @Ensures({"this.DP == DP"}) - public GenotypeBuilder DP(final int DP) { - this.DP = DP; - return this; - } - - /** - * This genotype has this AD value - * @return - */ - @Requires({"AD == null || AD.length > 0"}) - @Ensures({"this.AD == AD"}) - public GenotypeBuilder AD(final int[] AD) { - this.AD = AD; - return this; - } - - /** - * This genotype has this PL value, as int[]. FAST - * @return - */ - @Requires("PL == null || PL.length > 0") - @Ensures({"this.PL == PL"}) - public GenotypeBuilder PL(final int[] PL) { - this.PL = PL; - return this; - } - - /** - * This genotype has this PL value, converted from double[]. SLOW - * @return - */ - @Requires("PL == null || PL.length > 0") - @Ensures({"this.PL == PL"}) - public GenotypeBuilder PL(final double[] GLs) { - this.PL = GenotypeLikelihoods.fromLog10Likelihoods(GLs).getAsPLs(); - return this; - } - - /** - * This genotype has these attributes. - * - * Cannot contain inline attributes (DP, AD, GQ, PL) - * @return - */ - @Requires("attributes != null") - @Ensures("attributes.isEmpty() || extendedAttributes != null") - public GenotypeBuilder attributes(final Map attributes) { - for ( Map.Entry pair : attributes.entrySet() ) - attribute(pair.getKey(), pair.getValue()); - return this; - } - - /** - * Tells this builder to remove all extended attributes - * - * @return - */ - public GenotypeBuilder noAttributes() { - this.extendedAttributes = null; - return this; - } - - /** - * This genotype has this attribute key / value pair. - * - * Cannot contain inline attributes (DP, AD, GQ, PL) - * @return - */ - @Requires({"key != null"}) - @Ensures({"extendedAttributes != null", "extendedAttributes.containsKey(key)"}) - public GenotypeBuilder attribute(final String key, final Object value) { - if ( extendedAttributes == null ) - extendedAttributes = new HashMap(initialAttributeMapSize); - extendedAttributes.put(key, value); - return this; - } - - /** - * Tells this builder to make a Genotype object that has had filters applied, - * which may be empty (passes) or have some value indicating the reasons - * why it's been filtered. - * - * @param filters non-null list of filters. empty list => PASS - * @return this builder - */ - @Requires("filters != null") - public GenotypeBuilder filters(final List filters) { - if ( filters.isEmpty() ) - return filter(null); - else if ( filters.size() == 1 ) - return filter(filters.get(0)); - else - return filter(ParsingUtils.join(";", ParsingUtils.sortList(filters))); - } - - /** - * varargs version of #filters - * @param filters - * @return - */ - @Requires("filters != null") - public GenotypeBuilder filters(final String ... filters) { - return filters(Arrays.asList(filters)); - } - - /** - * Most efficient version of setting filters -- just set the filters string to filters - * - * @param filter if filters == null or filters.equals("PASS") => genotype is PASS - * @return - */ - public GenotypeBuilder filter(final String filter) { - this.filters = VCFConstants.PASSES_FILTERS_v4.equals(filter) ? null : filter; - return this; - } - - /** - * This genotype is unfiltered - * - * @return - */ - public GenotypeBuilder unfiltered() { - return filter(null); - } - - /** - * Tell's this builder that we have at most these number of attributes - * @return - */ - public GenotypeBuilder maxAttributes(final int i) { - initialAttributeMapSize = i; - return this; - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeLikelihoods.java b/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeLikelihoods.java deleted file mode 100644 index 1f6da6ecc..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeLikelihoods.java +++ /dev/null @@ -1,463 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.VCFConstants; - -import java.util.Arrays; -import java.util.EnumMap; -import java.util.List; - -public class GenotypeLikelihoods { - private final static int NUM_LIKELIHOODS_CACHE_N_ALLELES = 5; - private final static int NUM_LIKELIHOODS_CACHE_PLOIDY = 10; - // caching numAlleles up to 5 and ploidy up to 10 - private final static int[][] numLikelihoodCache = new int[NUM_LIKELIHOODS_CACHE_N_ALLELES][NUM_LIKELIHOODS_CACHE_PLOIDY]; - - public final static int MAX_PL = Short.MAX_VALUE; - - // - // There are two objects here because we are lazy in creating both representations - // for this object: a vector of log10 Probs and the PL phred-scaled string. Supports - // having one set during initializating, and dynamic creation of the other, if needed - // - private double[] log10Likelihoods = null; - private String likelihoodsAsString_PLs = null; - - - /** - * initialize num likelihoods cache - */ - static { - // must be done before PLIndexToAlleleIndex - for ( int numAlleles = 1; numAlleles < NUM_LIKELIHOODS_CACHE_N_ALLELES; numAlleles++ ) { - for ( int ploidy = 1; ploidy < NUM_LIKELIHOODS_CACHE_PLOIDY; ploidy++ ) { - numLikelihoodCache[numAlleles][ploidy] = calcNumLikelihoods(numAlleles, ploidy); - } - } - } - - /** - * The maximum number of alleles that we can represent as genotype likelihoods - */ - public final static int MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED = 50; - - /* - * a cache of the PL index to the 2 alleles it represents over all possible numbers of alternate alleles - */ - private final static GenotypeLikelihoodsAllelePair[] PLIndexToAlleleIndex = calculatePLcache(MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED); - - public final static GenotypeLikelihoods fromPLField(String PLs) { - return new GenotypeLikelihoods(PLs); - } - - @Deprecated - public final static GenotypeLikelihoods fromGLField(String GLs) { - return new GenotypeLikelihoods(parseDeprecatedGLString(GLs)); - } - - public final static GenotypeLikelihoods fromLog10Likelihoods(double[] log10Likelihoods) { - return new GenotypeLikelihoods(log10Likelihoods); - } - - public final static GenotypeLikelihoods fromPLs(final int[] pls) { - return new GenotypeLikelihoods(PLsToGLs(pls)); - } - - // - // You must use the factory methods now - // - private GenotypeLikelihoods(String asString) { - likelihoodsAsString_PLs = asString; - } - - private GenotypeLikelihoods(double[] asVector) { - log10Likelihoods = asVector; - } - - /** - * Returns the genotypes likelihoods in negative log10 vector format. pr{AA} = x, this - * vector returns math.log10(x) for each of the genotypes. Can return null if the - * genotype likelihoods are "missing". - * - * @return - */ - public double[] getAsVector() { - // assumes one of the likelihoods vector or the string isn't null - if ( log10Likelihoods == null ) { - // make sure we create the GL string if it doesn't already exist - log10Likelihoods = parsePLsIntoLikelihoods(likelihoodsAsString_PLs); - } - - return log10Likelihoods; - } - - public int[] getAsPLs() { - final double[] GLs = getAsVector(); - return GLs == null ? null : GLsToPLs(GLs); - } - - public String toString() { - return getAsString(); - } - - public String getAsString() { - if ( likelihoodsAsString_PLs == null ) { - // todo -- should we accept null log10Likelihoods and set PLs as MISSING? - if ( log10Likelihoods == null ) - throw new TribbleException("BUG: Attempted to get likelihoods as strings and neither the vector nor the string is set!"); - likelihoodsAsString_PLs = convertLikelihoodsToPLString(log10Likelihoods); - } - - return likelihoodsAsString_PLs; - } - - @Override public boolean equals(Object aThat) { - //check for self-comparison - if ( this == aThat ) return true; - - if ( !(aThat instanceof GenotypeLikelihoods) ) return false; - GenotypeLikelihoods that = (GenotypeLikelihoods)aThat; - - // now a proper field-by-field evaluation can be made. - // GLs are considered equal if the corresponding PLs are equal - return Arrays.equals(getAsPLs(), that.getAsPLs()); - } - - //Return genotype likelihoods as an EnumMap with Genotypes as keys and likelihoods as values - //Returns null in case of missing likelihoods - public EnumMap getAsMap(boolean normalizeFromLog10){ - //Make sure that the log10likelihoods are set - double[] likelihoods = normalizeFromLog10 ? GeneralUtils.normalizeFromLog10(getAsVector()) : getAsVector(); - if(likelihoods == null) - return null; - EnumMap likelihoodsMap = new EnumMap(GenotypeType.class); - likelihoodsMap.put(GenotypeType.HOM_REF,likelihoods[GenotypeType.HOM_REF.ordinal()-1]); - likelihoodsMap.put(GenotypeType.HET,likelihoods[GenotypeType.HET.ordinal()-1]); - likelihoodsMap.put(GenotypeType.HOM_VAR, likelihoods[GenotypeType.HOM_VAR.ordinal() - 1]); - return likelihoodsMap; - } - - //Return the neg log10 Genotype Quality (GQ) for the given genotype - //Returns Double.NEGATIVE_INFINITY in case of missing genotype - - /** - * This is really dangerous and returns completely wrong results for genotypes from a multi-allelic context. - * Use getLog10GQ(Genotype,VariantContext) or getLog10GQ(Genotype,List) in place of it. - * - * If you **know** you're biallelic, use getGQLog10FromLikelihoods directly. - * @param genotype - actually a genotype type (no call, hom ref, het, hom var) - * @return an unsafe quantity that could be negative. In the bi-allelic case, the GQ resulting from best minus next best (if the type is the best). - */ - @Deprecated - public double getLog10GQ(GenotypeType genotype){ - return getGQLog10FromLikelihoods(genotype.ordinal() - 1 /* NO_CALL IS FIRST */, getAsVector()); - } - - @Requires({"genotypeAlleles != null","genotypeAlleles.size()==2","contextAlleles != null","contextAlleles.size() >= 1"}) - private double getLog10GQ(List genotypeAlleles,List contextAlleles) { - int allele1Index = contextAlleles.indexOf(genotypeAlleles.get(0)); - int allele2Index = contextAlleles.indexOf(genotypeAlleles.get(1)); - int plIndex = calculatePLindex(allele1Index,allele2Index); - return getGQLog10FromLikelihoods(plIndex,getAsVector()); - } - - public double getLog10GQ(Genotype genotype, List vcAlleles ) { - return getLog10GQ(genotype.getAlleles(),vcAlleles); - } - - public double getLog10GQ(Genotype genotype, VariantContext context) { - return getLog10GQ(genotype,context.getAlleles()); - } - - public static double getGQLog10FromLikelihoods(int iOfChoosenGenotype, double[] likelihoods){ - if(likelihoods == null) - return Double.NEGATIVE_INFINITY; - - double qual = Double.NEGATIVE_INFINITY; - for (int i=0; i < likelihoods.length; i++) { - if (i==iOfChoosenGenotype) - continue; - if (likelihoods[i] >= qual) - qual = likelihoods[i]; - } - - // qual contains now max(likelihoods[k]) for all k != bestGTguess - qual = likelihoods[iOfChoosenGenotype] - qual; - - if (qual < 0) { - // QUAL can be negative if the chosen genotype is not the most likely one individually. - // In this case, we compute the actual genotype probability and QUAL is the likelihood of it not being the chosen one - double[] normalized = GeneralUtils.normalizeFromLog10(likelihoods); - double chosenGenotype = normalized[iOfChoosenGenotype]; - return Math.log10(1.0 - chosenGenotype); - } else { - // invert the size, as this is the probability of making an error - return -1 * qual; - } - } - - private final static double[] parsePLsIntoLikelihoods(String likelihoodsAsString_PLs) { - if ( !likelihoodsAsString_PLs.equals(VCFConstants.MISSING_VALUE_v4) ) { - String[] strings = likelihoodsAsString_PLs.split(","); - double[] likelihoodsAsVector = new double[strings.length]; - try { - for ( int i = 0; i < strings.length; i++ ) { - likelihoodsAsVector[i] = Integer.parseInt(strings[i]) / -10.0; - } - } catch (NumberFormatException e) { - throw new TribbleException("The GL/PL tag contains non-integer values: " + likelihoodsAsString_PLs); - } - return likelihoodsAsVector; - } else - return null; - } - - /** - * Back-compatibility function to read old style GL formatted genotype likelihoods in VCF format - * @param GLString - * @return - */ - private final static double[] parseDeprecatedGLString(String GLString) { - if ( !GLString.equals(VCFConstants.MISSING_VALUE_v4) ) { - String[] strings = GLString.split(","); - double[] likelihoodsAsVector = new double[strings.length]; - for ( int i = 0; i < strings.length; i++ ) { - likelihoodsAsVector[i] = Double.parseDouble(strings[i]); - } - return likelihoodsAsVector; - } - - return null; - } - - private final static String convertLikelihoodsToPLString(final double[] GLs) { - if ( GLs == null ) - return VCFConstants.MISSING_VALUE_v4; - - final StringBuilder s = new StringBuilder(); - boolean first = true; - for ( final int pl : GLsToPLs(GLs) ) { - if ( ! first ) - s.append(","); - else - first = false; - - s.append(pl); - } - - return s.toString(); - } - - private final static int[] GLsToPLs(final double[] GLs) { - final int[] pls = new int[GLs.length]; - final double adjust = maxPL(GLs); - - for ( int i = 0; i < GLs.length; i++ ) { - pls[i] = (int)Math.round(Math.min(-10 * (GLs[i] - adjust), MAX_PL)); - } - - return pls; - } - - private final static double maxPL(final double[] GLs) { - double adjust = Double.NEGATIVE_INFINITY; - for ( double l : GLs ) adjust = Math.max(adjust, l); - return adjust; - } - - private final static double[] PLsToGLs(final int pls[]) { - double[] likelihoodsAsVector = new double[pls.length]; - for ( int i = 0; i < pls.length; i++ ) { - likelihoodsAsVector[i] = pls[i] / -10.0; - } - return likelihoodsAsVector; - } - - // ------------------------------------------------------------------------------------- - // - // Static conversion utilities, going from GL/PL index to allele index and vice versa. - // - // ------------------------------------------------------------------------------------- - - /* - * Class representing the 2 alleles (or rather their indexes into VariantContext.getAllele()) corresponding to a specific PL index. - * Note that the reference allele is always index=0. - */ - public static class GenotypeLikelihoodsAllelePair { - public final int alleleIndex1, alleleIndex2; - - public GenotypeLikelihoodsAllelePair(final int alleleIndex1, final int alleleIndex2) { - this.alleleIndex1 = alleleIndex1; - this.alleleIndex2 = alleleIndex2; - } - } - - private static GenotypeLikelihoodsAllelePair[] calculatePLcache(final int altAlleles) { - final int numLikelihoods = numLikelihoods(1 + altAlleles, 2); - final GenotypeLikelihoodsAllelePair[] cache = new GenotypeLikelihoodsAllelePair[numLikelihoods]; - - // for all possible combinations of 2 alleles - for ( int allele1 = 0; allele1 <= altAlleles; allele1++ ) { - for ( int allele2 = allele1; allele2 <= altAlleles; allele2++ ) { - cache[calculatePLindex(allele1, allele2)] = new GenotypeLikelihoodsAllelePair(allele1, allele2); - } - } - - // a bit of sanity checking - for ( int i = 0; i < cache.length; i++ ) { - if ( cache[i] == null ) - throw new IllegalStateException("BUG: cache entry " + i + " is unexpected null"); - } - - return cache; - } - - // ------------------------------------------------------------------------------------- - // - // num likelihoods given number of alleles and ploidy - // - // ------------------------------------------------------------------------------------- - - /** - * Actually does the computation in @see #numLikelihoods - * - * @param numAlleles - * @param ploidy - * @return - */ - private static final int calcNumLikelihoods(final int numAlleles, final int ploidy) { - if (numAlleles == 1) - return 1; - else if (ploidy == 1) - return numAlleles; - else { - int acc =0; - for (int k=0; k <= ploidy; k++ ) - acc += calcNumLikelihoods(numAlleles - 1, ploidy - k); - return acc; - } - } - - /** - * Compute how many likelihood elements are associated with the given number of alleles - * Equivalent to asking in how many ways N non-negative integers can add up to P is S(N,P) - * where P = ploidy (number of chromosomes) and N = total # of alleles. - * Each chromosome can be in one single state (0,...,N-1) and there are P of them. - * Naive solution would be to store N*P likelihoods, but this is not necessary because we can't distinguish chromosome states, but rather - * only total number of alt allele counts in all chromosomes. - * - * For example, S(3,2) = 6: For alleles A,B,C, on a diploid organism we have six possible genotypes: - * AA,AB,BB,AC,BC,CC. - * Another way of expressing is with vector (#of A alleles, # of B alleles, # of C alleles) - * which is then, for ordering above, (2,0,0), (1,1,0), (0,2,0), (1,1,0), (0,1,1), (0,0,2) - * In general, for P=2 (regular biallelic), then S(N,2) = N*(N+1)/2 - * - * Note this method caches the value for most common num Allele / ploidy combinations for efficiency - * - * Recursive implementation: - * S(N,P) = sum_{k=0}^P S(N-1,P-k) - * because if we have N integers, we can condition 1 integer to be = k, and then N-1 integers have to sum to P-K - * With initial conditions - * S(N,1) = N (only way to have N integers add up to 1 is all-zeros except one element with a one. There are N of these vectors) - * S(1,P) = 1 (only way to have 1 integer add to P is with that integer P itself). - * - * @param numAlleles Number of alleles (including ref) - * @param ploidy Ploidy, or number of chromosomes in set - * @return Number of likelihood elements we need to hold. - */ - @Requires({"ploidy > 0", "numAlleles > 0"}) - @Ensures("result > 0") - public static int numLikelihoods(final int numAlleles, final int ploidy) { - if ( numAlleles < NUM_LIKELIHOODS_CACHE_N_ALLELES - && ploidy < NUM_LIKELIHOODS_CACHE_PLOIDY ) - return numLikelihoodCache[numAlleles][ploidy]; - else { - // have to calculate on the fly - return calcNumLikelihoods(numAlleles, ploidy); - } - } - - // As per the VCF spec: "the ordering of genotypes for the likelihoods is given by: F(j/k) = (k*(k+1)/2)+j. - // In other words, for biallelic sites the ordering is: AA,AB,BB; for triallelic sites the ordering is: AA,AB,BB,AC,BC,CC, etc." - // Assumes that allele1Index < allele2Index - public static int calculatePLindex(final int allele1Index, final int allele2Index) { - return (allele2Index * (allele2Index+1) / 2) + allele1Index; - } - - /** - * get the allele index pair for the given PL - * - * @param PLindex the PL index - * @return the allele index pair - */ - public static GenotypeLikelihoodsAllelePair getAllelePair(final int PLindex) { - // make sure that we've cached enough data - if ( PLindex >= PLIndexToAlleleIndex.length ) - throw new IllegalStateException("Internal limitation: cannot genotype more than " + MAX_ALT_ALLELES_THAT_CAN_BE_GENOTYPED + " alleles"); - - return PLIndexToAlleleIndex[PLindex]; - } - - // An index conversion from the deprecated PL ordering to the new VCF-based ordering for up to 3 alternate alleles - protected static final int[] PLindexConversion = new int[]{0, 1, 3, 6, 2, 4, 7, 5, 8, 9}; - - /** - * get the allele index pair for the given PL using the deprecated PL ordering: - * AA,AB,AC,AD,BB,BC,BD,CC,CD,DD instead of AA,AB,BB,AC,BC,CC,AD,BD,CD,DD. - * Although it's painful to keep this conversion around, our DiploidSNPGenotypeLikelihoods class uses the deprecated - * ordering and I know with certainty that external users have built code on top of it; changing it now would - * cause a whole lot of heartache for our collaborators, so for now at least there's a standard conversion method. - * This method assumes at most 3 alternate alleles. - * - * @param PLindex the PL index - * @return the allele index pair - */ - @Deprecated - public static GenotypeLikelihoodsAllelePair getAllelePairUsingDeprecatedOrdering(final int PLindex) { - return getAllelePair(PLindexConversion[PLindex]); - } - - /** - * get the PL indexes (AA, AB, BB) for the given allele pair; assumes allele1Index <= allele2Index. - * - * @param allele1Index the index in VariantContext.getAllele() of the first allele - * @param allele2Index the index in VariantContext.getAllele() of the second allele - * @return the PL indexes - */ - public static int[] getPLIndecesOfAlleles(final int allele1Index, final int allele2Index) { - - final int[] indexes = new int[3]; - indexes[0] = calculatePLindex(allele1Index, allele1Index); - indexes[1] = calculatePLindex(allele1Index, allele2Index); - indexes[2] = calculatePLindex(allele2Index, allele2Index); - return indexes; - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeType.java b/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeType.java deleted file mode 100644 index 707443121..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypeType.java +++ /dev/null @@ -1,47 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -/** - * Summary types for Genotype objects - * - * @author Your Name - * @since Date created - */ -public enum GenotypeType { - /** The sample is no-called (all alleles are NO_CALL */ - NO_CALL, - /** The sample is homozygous reference */ - HOM_REF, - /** The sample is heterozygous, with at least one ref and at least one one alt in any order */ - HET, - /** All alleles are non-reference */ - HOM_VAR, - /** There is no allele data availble for this sample (alleles.isEmpty) */ - UNAVAILABLE, - /** Some chromosomes are NO_CALL and others are called */ - MIXED // no-call and call in the same genotype -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypesContext.java b/public/java/src/org/broadinstitute/variant/variantcontext/GenotypesContext.java deleted file mode 100644 index d0684d27e..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/GenotypesContext.java +++ /dev/null @@ -1,724 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; - -import java.util.*; - -/** - * Represents an ordered collection of Genotype objects - */ -public class GenotypesContext implements List { - /** - * static constant value for an empty GenotypesContext. Useful since so many VariantContexts have no genotypes - */ - public final static GenotypesContext NO_GENOTYPES = - new GenotypesContext(new ArrayList(0), new HashMap(0), Collections.emptyList()).immutable(); - - /** - *sampleNamesInOrder a list of sample names, one for each genotype in genotypes, sorted in alphabetical order - */ - List sampleNamesInOrder = null; - - /** - * a map optimized for efficient lookup. Each genotype in genotypes must have its - * sample name in sampleNameToOffset, with a corresponding integer value that indicates the offset of that - * genotype in the vector of genotypes - */ - Map sampleNameToOffset = null; - - /** - * An ArrayList of genotypes contained in this context - * - * WARNING: TO ENABLE THE LAZY VERSION OF THIS CLASS, NO METHODS SHOULD DIRECTLY - * ACCESS THIS VARIABLE. USE getGenotypes() INSTEAD. - * - */ - ArrayList notToBeDirectlyAccessedGenotypes; - - /** - * Cached value of the maximum ploidy observed among all samples - */ - private int maxPloidy = -1; - - /** Are we allowing users to modify the list? */ - boolean immutable = false; - - // --------------------------------------------------------------------------- - // - // private constructors -- you have to use static create methods to make these classes - // - // --------------------------------------------------------------------------- - - /** - * Create an empty GenotypeContext - */ - protected GenotypesContext() { - this(10); - } - - /** - * Create an empty GenotypeContext, with initial capacity for n elements - */ - @Requires("n >= 0") - protected GenotypesContext(final int n) { - this(new ArrayList(n)); - } - - /** - * Create an GenotypeContext containing genotypes - */ - @Requires("genotypes != null") - protected GenotypesContext(final ArrayList genotypes) { - this.notToBeDirectlyAccessedGenotypes = genotypes; - this.sampleNameToOffset = null; - } - - /** - * Create a fully resolved GenotypeContext containing genotypes, sample lookup table, - * and sorted sample names - * - * @param genotypes our genotypes in arbitrary - * @param sampleNameToOffset map optimized for efficient lookup. Each genotype in genotypes must have its - * sample name in sampleNameToOffset, with a corresponding integer value that indicates the offset of that - * genotype in the vector of genotypes - * @param sampleNamesInOrder a list of sample names, one for each genotype in genotypes, sorted in alphabetical - * order. - */ - @Requires({"genotypes != null", - "sampleNameToOffset != null", - "sampleNamesInOrder != null", - "genotypes.size() == sampleNameToOffset.size()", - "genotypes.size() == sampleNamesInOrder.size()"}) - protected GenotypesContext(final ArrayList genotypes, - final Map sampleNameToOffset, - final List sampleNamesInOrder) { - this.notToBeDirectlyAccessedGenotypes = genotypes; - this.sampleNameToOffset = sampleNameToOffset; - this.sampleNamesInOrder = sampleNamesInOrder; - } - - // --------------------------------------------------------------------------- - // - // public static factory methods - // - // --------------------------------------------------------------------------- - - /** - * Basic creation routine - * @return an empty, mutable GenotypeContext - */ - @Ensures({"result != null"}) - public static final GenotypesContext create() { - return new GenotypesContext(); - } - - /** - * Basic creation routine - * @return an empty, mutable GenotypeContext with initial capacity for nGenotypes - */ - @Requires("nGenotypes >= 0") - @Ensures({"result != null"}) - public static final GenotypesContext create(final int nGenotypes) { - return new GenotypesContext(nGenotypes); - } - - /** - * Create a fully resolved GenotypeContext containing genotypes, sample lookup table, - * and sorted sample names - * - * @param genotypes our genotypes in arbitrary - * @param sampleNameToOffset map optimized for efficient lookup. Each genotype in genotypes must have its - * sample name in sampleNameToOffset, with a corresponding integer value that indicates the offset of that - * genotype in the vector of genotypes - * @param sampleNamesInOrder a list of sample names, one for each genotype in genotypes, sorted in alphabetical - * order. - * @return an mutable GenotypeContext containing genotypes with already present lookup data - */ - @Requires({"genotypes != null", - "sampleNameToOffset != null", - "sampleNamesInOrder != null"}) - @Ensures({"result != null"}) - public static final GenotypesContext create(final ArrayList genotypes, - final Map sampleNameToOffset, - final List sampleNamesInOrder) { - return new GenotypesContext(genotypes, sampleNameToOffset, sampleNamesInOrder); - } - - /** - * Create a fully resolved GenotypeContext containing genotypes - * - * @param genotypes our genotypes in arbitrary - * @return an mutable GenotypeContext containing genotypes - */ - @Requires({"genotypes != null"}) - @Ensures({"result != null"}) - public static final GenotypesContext create(final ArrayList genotypes) { - return genotypes == null ? NO_GENOTYPES : new GenotypesContext(genotypes); - } - - /** - * Create a fully resolved GenotypeContext containing genotypes - * - * @param genotypes our genotypes in arbitrary - * @return an mutable GenotypeContext containing genotypes - */ - @Requires({"genotypes != null"}) - @Ensures({"result != null"}) - public static final GenotypesContext create(final Genotype... genotypes) { - return create(new ArrayList(Arrays.asList(genotypes))); - } - - /** - * Create a freshly allocated GenotypeContext containing the genotypes in toCopy - * - * @param toCopy the GenotypesContext to copy - * @return an mutable GenotypeContext containing genotypes - */ - @Requires({"toCopy != null"}) - @Ensures({"result != null"}) - public static final GenotypesContext copy(final GenotypesContext toCopy) { - return create(new ArrayList(toCopy.getGenotypes())); - } - - /** - * Create a GenotypesContext containing the genotypes in iteration order contained - * in toCopy - * - * @param toCopy the collection of genotypes - * @return an mutable GenotypeContext containing genotypes - */ - @Ensures({"result != null"}) - public static final GenotypesContext copy(final Collection toCopy) { - return toCopy == null ? NO_GENOTYPES : create(new ArrayList(toCopy)); - } - - // --------------------------------------------------------------------------- - // - // Mutability methods - // - // --------------------------------------------------------------------------- - - public final GenotypesContext immutable() { - immutable = true; - return this; - } - - public boolean isMutable() { - return ! immutable; - } - - public final void checkImmutability() { - if ( immutable ) - throw new IllegalAccessError("GenotypeMap is currently immutable, but a mutator method was invoked on it"); - } - - // --------------------------------------------------------------------------- - // - // caches - // - // --------------------------------------------------------------------------- - - @Ensures({"sampleNameToOffset == null"}) - protected void invalidateSampleNameMap() { - sampleNameToOffset = null; - } - - @Ensures({"sampleNamesInOrder == null"}) - protected void invalidateSampleOrdering() { - sampleNamesInOrder = null; - } - - @Ensures({"sampleNamesInOrder != null"}) - protected void ensureSampleOrdering() { - if ( sampleNamesInOrder == null ) { - sampleNamesInOrder = new ArrayList(size()); - - for ( int i = 0; i < size(); i++ ) { - sampleNamesInOrder.add(getGenotypes().get(i).getSampleName()); - } - Collections.sort(sampleNamesInOrder); - } - } - - @Ensures({"sampleNameToOffset != null"}) - protected void ensureSampleNameMap() { - if ( sampleNameToOffset == null ) { - sampleNameToOffset = new HashMap(size()); - - for ( int i = 0; i < size(); i++ ) { - sampleNameToOffset.put(getGenotypes().get(i).getSampleName(), i); - } - } - } - - // --------------------------------------------------------------------------- - // - // Lazy methods - // - // --------------------------------------------------------------------------- - - public boolean isLazyWithData() { - return this instanceof LazyGenotypesContext && - ((LazyGenotypesContext)this).getUnparsedGenotypeData() != null; - } - - // --------------------------------------------------------------------------- - // - // Map methods - // - // --------------------------------------------------------------------------- - - protected ArrayList getGenotypes() { - return notToBeDirectlyAccessedGenotypes; - } - - @Override - public void clear() { - checkImmutability(); - invalidateSampleNameMap(); - invalidateSampleOrdering(); - getGenotypes().clear(); - } - - @Override - public int size() { - return getGenotypes().size(); - } - - @Override - public boolean isEmpty() { - return getGenotypes().isEmpty(); - } - - /** - * Adds a single genotype to this context. - * - * There are many constraints on this input, and important - * impacts on the performance of other functions provided by this - * context. - * - * First, the sample name of genotype must be unique within this - * context. However, this is not enforced in the code itself, through - * you will invalid the contract on this context if you add duplicate - * samples and are running with CoFoJa enabled. - * - * Second, adding genotype also updates the sample name -> index map, - * so add() followed by containsSample and related function is an efficient - * series of operations. - * - * Third, adding the genotype invalidates the sorted list of sample names, to - * add() followed by any of the SampleNamesInOrder operations is inefficient, as - * each SampleNamesInOrder must rebuild the sorted list of sample names at - * an O(n log n) cost. - * - * @param genotype - * @return - */ - @Override - @Requires({"genotype != null", "get(genotype.getSampleName()) == null"}) - public boolean add(final Genotype genotype) { - checkImmutability(); - invalidateSampleOrdering(); - - if ( sampleNameToOffset != null ) { - // update the name map by adding entries - sampleNameToOffset.put(genotype.getSampleName(), size()); - } - - return getGenotypes().add(genotype); - } - - @Override - @Requires("! contains(genotype)") - public void add(final int i, final Genotype genotype) { - throw new UnsupportedOperationException(); - } - - /** - * Adds all of the genotypes to this context - * - * See {@link #add(Genotype)} for important information about this functions - * constraints and performance costs - * - * @param genotypes - * @return - */ - @Override - @Requires("! containsAny(genotypes)") - public boolean addAll(final Collection genotypes) { - checkImmutability(); - invalidateSampleOrdering(); - - if ( sampleNameToOffset != null ) { - // update the name map by adding entries - int pos = size(); - for ( final Genotype g : genotypes ) { - sampleNameToOffset.put(g.getSampleName(), pos++); - } - } - - return getGenotypes().addAll(genotypes); - } - - @Override - public boolean addAll(final int i, final Collection genotypes) { - throw new UnsupportedOperationException(); - } - - @Override - public boolean contains(final Object o) { - return getGenotypes().contains(o); - } - - @Override - public boolean containsAll(final Collection objects) { - return getGenotypes().containsAll(objects); - } - - private boolean containsAny(final Collection genotypes) { - for ( final Genotype g : genotypes ) { - if ( contains(g) ) return true; - } - return false; - } - - @Override - public Genotype get(final int i) { - return getGenotypes().get(i); - } - - /** - * What is the max ploidy among all samples? Returns defaultPloidy if no genotypes are present - * - * @param defaultPloidy the default ploidy, if all samples are no-called - * @return - */ - @Ensures("result >= 0") - public int getMaxPloidy(final int defaultPloidy) { - if ( defaultPloidy < 0 ) throw new IllegalArgumentException("defaultPloidy must be greater than or equal to 0"); - - if ( maxPloidy == -1 ) { - maxPloidy = 0; // necessary in the case where there are no genotypes - for ( final Genotype g : getGenotypes() ) { - maxPloidy = Math.max(g.getPloidy(), maxPloidy); - } - - // everything is no called so we return the default ploidy - if ( maxPloidy == 0 ) maxPloidy = defaultPloidy; - } - - return maxPloidy; - } - - /** - * Gets sample associated with this sampleName, or null if none is found - * - * @param sampleName - * @return - */ - public Genotype get(final String sampleName) { - Integer offset = getSampleI(sampleName); - return offset == null ? null : getGenotypes().get(offset); - } - - private Integer getSampleI(final String sampleName) { - ensureSampleNameMap(); - return sampleNameToOffset.get(sampleName); - } - - @Override - public int indexOf(final Object o) { - return getGenotypes().indexOf(o); - } - - @Override - public Iterator iterator() { - return getGenotypes().iterator(); - } - - @Override - public int lastIndexOf(final Object o) { - return getGenotypes().lastIndexOf(o); - } - - @Override - public ListIterator listIterator() { - // todo -- must be immutable - throw new UnsupportedOperationException(); -// return genotypes.listIterator(); - } - - @Override - public ListIterator listIterator(final int i) { - // todo -- must be immutable - throw new UnsupportedOperationException(); -// return genotypes.listIterator(i); - } - - /** - * Note that remove requires us to invalidate our sample -> index - * cache. The loop: - * - * GenotypesContext gc = ... - * for ( sample in samples ) - * if ( gc.containsSample(sample) ) - * gc.remove(sample) - * - * is extremely inefficient, as each call to remove invalidates the cache - * and containsSample requires us to rebuild it, an O(n) operation. - * - * If you must remove many samples from the GC, use either removeAll or retainAll - * to avoid this O(n * m) operation. - * - * @param i - * @return - */ - @Override - public Genotype remove(final int i) { - checkImmutability(); - invalidateSampleNameMap(); - invalidateSampleOrdering(); - return getGenotypes().remove(i); - } - - /** - * See for important warning {@link this.remove(Integer)} - * @param o - * @return - */ - @Override - public boolean remove(final Object o) { - checkImmutability(); - invalidateSampleNameMap(); - invalidateSampleOrdering(); - return getGenotypes().remove(o); - } - - @Override - public boolean removeAll(final Collection objects) { - checkImmutability(); - invalidateSampleNameMap(); - invalidateSampleOrdering(); - return getGenotypes().removeAll(objects); - } - - @Override - public boolean retainAll(final Collection objects) { - checkImmutability(); - invalidateSampleNameMap(); - invalidateSampleOrdering(); - return getGenotypes().retainAll(objects); - } - - @Override - public Genotype set(final int i, final Genotype genotype) { - checkImmutability(); - final Genotype prev = getGenotypes().set(i, genotype); - - invalidateSampleOrdering(); - if ( sampleNameToOffset != null ) { - // update the name map by removing the old entry and replacing it with the new one - sampleNameToOffset.remove(prev.getSampleName()); - sampleNameToOffset.put(genotype.getSampleName(), i); - } - - return prev; - } - - /** - * Replaces the genotype in this context -- note for efficiency - * reasons we do not add the genotype if it's not present. The - * return value will be null indicating this happened. - * - * Note this operation is preserves the map cache Sample -> Offset but - * invalidates the sorted list of samples. Using replace within a loop - * containing any of the SampleNameInOrder operation requires an O(n log n) - * resorting after each replace operation. - * - * @param genotype a non null genotype to bind in this context - * @return null if genotype was not added, otherwise returns the previous genotype - */ - @Requires("genotype != null") - public Genotype replace(final Genotype genotype) { - checkImmutability(); - Integer offset = getSampleI(genotype.getSampleName()); - if ( offset == null ) - return null; - else - return set(offset, genotype); - } - - @Override - public List subList(final int i, final int i1) { - return getGenotypes().subList(i, i1); - } - - @Override - public Object[] toArray() { - return getGenotypes().toArray(); - } - - @Override - public T[] toArray(final T[] ts) { - return getGenotypes().toArray(ts); - } - - /** - * Iterate over the Genotypes in this context in the order specified by sampleNamesInOrder - * - * @param sampleNamesInOrder a Iterable of String, containing exactly one entry for each Genotype sample name in - * this context - * @return a Iterable over the genotypes in this context. - */ - @Requires("sampleNamesInOrder != null") - public Iterable iterateInSampleNameOrder(final Iterable sampleNamesInOrder) { - return new Iterable() { - @Override - public Iterator iterator() { - return new InOrderIterator(sampleNamesInOrder.iterator()); - } - }; - } - - /** - * Iterate over the Genotypes in this context in their sample name order (A, B, C) - * regardless of the underlying order in the vector of genotypes - * @return a Iterable over the genotypes in this context. - */ - public Iterable iterateInSampleNameOrder() { - return iterateInSampleNameOrder(getSampleNamesOrderedByName()); - } - - private final class InOrderIterator implements Iterator { - final Iterator sampleNamesInOrder; - - private InOrderIterator(final Iterator sampleNamesInOrder) { - this.sampleNamesInOrder = sampleNamesInOrder; - } - - @Override - public boolean hasNext() { - return sampleNamesInOrder.hasNext(); - } - - @Override - public Genotype next() { - return get(sampleNamesInOrder.next()); - } - - @Override - public void remove() { - throw new UnsupportedOperationException(); - } - } - - /** - * @return The set of sample names for all genotypes in this context, in arbitrary order - */ - @Ensures("result != null") - public Set getSampleNames() { - ensureSampleNameMap(); - return sampleNameToOffset.keySet(); - } - - /** - * @return The set of sample names for all genotypes in this context, in their natural ordering (A, B, C) - */ - @Ensures("result != null") - public List getSampleNamesOrderedByName() { - ensureSampleOrdering(); - return sampleNamesInOrder; - } - - @Requires("sample != null") - public boolean containsSample(final String sample) { - ensureSampleNameMap(); - return sampleNameToOffset.containsKey(sample); - } - - @Requires("samples != null") - public boolean containsSamples(final Collection samples) { - return getSampleNames().containsAll(samples); - } - - /** - * Return a freshly allocated subcontext of this context containing only the samples - * listed in samples. Note that samples can contain names not in this context, they - * will just be ignored. - * - * @param samples - * @return - */ - @Requires("samples != null") - @Ensures("result != null") - public GenotypesContext subsetToSamples( final Set samples ) { - final int nSamples = samples.size(); - - if ( nSamples == 0 ) - return NO_GENOTYPES; - else { // nGenotypes < nSamples - final GenotypesContext subset = create(samples.size()); - for ( final String sample : samples ) { - final Genotype g = get(sample); - if ( g != null ) - subset.add(g); - } - return subset; - } - } - - @Override - public String toString() { - final List gS = new ArrayList(); - for ( final Genotype g : this.iterateInSampleNameOrder() ) - gS.add(g.toString()); - return "[" + join(",", gS) + "]"; - } - - // copied from Utils - private static String join(final String separator, final Collection objects) { - if (objects.isEmpty()) { // fast path for empty collection - return ""; - } else { - final Iterator iter = objects.iterator(); - final T first = iter.next(); - - if ( ! iter.hasNext() ) // fast path for singleton collections - return first.toString(); - else { // full path for 2+ collection that actually need a join - final StringBuilder ret = new StringBuilder(first.toString()); - while(iter.hasNext()) { - ret.append(separator); - ret.append(iter.next().toString()); - } - return ret.toString(); - } - } - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/LazyGenotypesContext.java b/public/java/src/org/broadinstitute/variant/variantcontext/LazyGenotypesContext.java deleted file mode 100644 index 4825615a2..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/LazyGenotypesContext.java +++ /dev/null @@ -1,198 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; - -import java.util.ArrayList; -import java.util.List; -import java.util.Map; - -/** - * Lazy-loading GenotypesContext. A lazy-loading context has access to the - * VCFParser and a unparsed string of genotype data. If the user attempts to manipulate - * the genotypes contained in this context, we decode the data and become a full blown - * GenotypesContext. However, if the user never does this we are spared a lot of expense - * decoding the genotypes unnecessarily. - */ -public class LazyGenotypesContext extends GenotypesContext { - /** The LazyParser we'll use to decode unparsedGenotypeData if necessary */ - final LazyParser parser; - - Object unparsedGenotypeData; - - /** - * nUnparsedGenotypes the number of genotypes contained in the unparsedGenotypes data - * (known already in the parser). Useful for isEmpty and size() optimizations - */ - final int nUnparsedGenotypes; - - /** - * True if we've already decoded the values in unparsedGenotypeData - */ - boolean loaded = false; - - private final static ArrayList EMPTY = new ArrayList(0); - - /** - * Simple lazy parser interface. Provide an object implementing this - * interface to LazyGenotypesContext, and it's parse method will be called - * when the use of the lazy context requires the underlying genotypes data - * be parsed into Genotype objects. The data argument is the data provided - * to the LazyGenotypesContext holding encoded genotypes data - */ - public interface LazyParser { - @Requires("data != null") - @Ensures("result != null") - public LazyData parse(Object data); - } - - /** - * Returns the data used in the full GenotypesContext constructor - * - * {@link GenotypesContext#GenotypesContext(java.util.ArrayList, java.util.Map, java.util.List)} - */ - public static class LazyData { - final ArrayList genotypes; - final Map sampleNameToOffset; - final List sampleNamesInOrder; - - @Requires({"genotypes != null", "sampleNamesInOrder != null", "sampleNameToOffset != null"}) - public LazyData(final ArrayList genotypes, - final List sampleNamesInOrder, - final Map sampleNameToOffset) { - this.genotypes = genotypes; - this.sampleNamesInOrder = sampleNamesInOrder; - this.sampleNameToOffset = sampleNameToOffset; - } - } - - /** - * Creates a new lazy loading genotypes context using the LazyParser to create - * genotypes data on demand. - * - * @param parser the parser to be used to load on-demand genotypes data - * @param unparsedGenotypeData the encoded genotypes data that we will decode if necessary - * @param nUnparsedGenotypes the number of genotypes that will be produced if / when we actually decode the genotypes data - */ - @Requires({"parser != null", "unparsedGenotypeData != null", "nUnparsedGenotypes >= 0"}) - public LazyGenotypesContext(final LazyParser parser, final Object unparsedGenotypeData, final int nUnparsedGenotypes) { - super(EMPTY); - this.parser = parser; - this.unparsedGenotypeData = unparsedGenotypeData; - this.nUnparsedGenotypes = nUnparsedGenotypes; - } - - /** - * Overrides the genotypes accessor. If we haven't already, decode the genotypes data - * and store the decoded results in the appropriate variables. Otherwise we just - * returned the decoded result directly. Note some care needs to be taken here as - * the value in notToBeDirectlyAccessedGenotypes may diverge from what would be produced - * by decode, if after the first decode the genotypes themselves are replaced - * @return - */ - @Override - @Ensures("result != null") - protected ArrayList getGenotypes() { - decode(); - return notToBeDirectlyAccessedGenotypes; - } - - /** - * Force us to decode the genotypes, if not already done - */ - public void decode() { - if ( ! loaded ) { - //System.out.printf("Loading genotypes... %s:%d%n", contig, start); - LazyData parsed = parser.parse(unparsedGenotypeData); - notToBeDirectlyAccessedGenotypes = parsed.genotypes; - sampleNamesInOrder = parsed.sampleNamesInOrder; - sampleNameToOffset = parsed.sampleNameToOffset; - loaded = true; - unparsedGenotypeData = null; // don't hold the unparsed data any longer - - // warning -- this path allows us to create a VariantContext that doesn't run validateGenotypes() - // That said, it's not such an important routine -- it's just checking that the genotypes - // are well formed w.r.t. the alleles list, but this will be enforced within the VCFCodec - } - } - - /** - * Overrides the ensure* functionality. If the data hasn't been loaded - * yet and we want to build the cache, just decode it and we're done. If we've - * already decoded the data, though, go through the super class - */ - @Override - protected synchronized void ensureSampleNameMap() { - if ( ! loaded ) { - decode(); // will load up all of the necessary data - } else { - super.ensureSampleNameMap(); - } - } - - @Override - protected synchronized void ensureSampleOrdering() { - if ( ! loaded ) { - decode(); // will load up all of the necessary data - } else { - super.ensureSampleOrdering(); - } - } - - @Override - protected void invalidateSampleNameMap() { - // if the cache is invalidated, and we haven't loaded our data yet, do so - if ( ! loaded ) decode(); - super.invalidateSampleNameMap(); - } - - @Override - protected void invalidateSampleOrdering() { - // if the cache is invalidated, and we haven't loaded our data yet, do so - if ( ! loaded ) decode(); - super.invalidateSampleOrdering(); - } - - @Override - public boolean isEmpty() { - // optimization -- we know the number of samples in the unparsed data, so use it here to - // avoid parsing just to know if the genotypes context is empty - return loaded ? super.isEmpty() : nUnparsedGenotypes == 0; - } - - @Override - public int size() { - // optimization -- we know the number of samples in the unparsed data, so use it here to - // avoid parsing just to know the size of the context - return loaded ? super.size() : nUnparsedGenotypes; - } - - public Object getUnparsedGenotypeData() { - return unparsedGenotypeData; - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/VariantContext.java b/public/java/src/org/broadinstitute/variant/variantcontext/VariantContext.java deleted file mode 100644 index 1fce89431..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/VariantContext.java +++ /dev/null @@ -1,1571 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import org.broad.tribble.Feature; -import org.broad.tribble.TribbleException; -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.*; - -import java.util.*; - -/** - * Class VariantContext - * - * == High-level overview == - * - * The VariantContext object is a single general class system for representing genetic variation data composed of: - * - * * Allele: representing single genetic haplotypes (A, T, ATC, -) - * * Genotype: an assignment of alleles for each chromosome of a single named sample at a particular locus - * * VariantContext: an abstract class holding all segregating alleles at a locus as well as genotypes - * for multiple individuals containing alleles at that locus - * - * The class system works by defining segregating alleles, creating a variant context representing the segregating - * information at a locus, and potentially creating and associating genotypes with individuals in the context. - * - * All of the classes are highly validating -- call validate() if you modify them -- so you can rely on the - * self-consistency of the data once you have a VariantContext in hand. The system has a rich set of assessor - * and manipulator routines, as well as more complex static support routines in VariantContextUtils. - * - * The VariantContext (and Genotype) objects are attributed (supporting addition of arbitrary key/value pairs) and - * filtered (can represent a variation that is viewed as suspect). - * - * VariantContexts are dynamically typed, so whether a VariantContext is a SNP, Indel, or NoVariant depends - * on the properties of the alleles in the context. See the detailed documentation on the Type parameter below. - * - * It's also easy to create subcontexts based on selected genotypes. - * - * == Working with Variant Contexts == - * By default, VariantContexts are immutable. In order to access (in the rare circumstances where you need them) - * setter routines, you need to create MutableVariantContexts and MutableGenotypes. - * - * === Some example data === - * - * Allele A, Aref, T, Tref; - * Allele del, delRef, ATC, ATCref; - * - * A [ref] / T at 10 - * GenomeLoc snpLoc = GenomeLocParser.createGenomeLoc("chr1", 10, 10); - * - * - / ATC [ref] from 20-23 - * GenomeLoc delLoc = GenomeLocParser.createGenomeLoc("chr1", 20, 22); - * - * // - [ref] / ATC immediately after 20 - * GenomeLoc insLoc = GenomeLocParser.createGenomeLoc("chr1", 20, 20); - * - * === Alleles === - * - * See the documentation in the Allele class itself - * - * What are they? - * - * Alleles can be either reference or non-reference - * - * Example alleles used here: - * - * del = new Allele("-"); - * A = new Allele("A"); - * Aref = new Allele("A", true); - * T = new Allele("T"); - * ATC = new Allele("ATC"); - * - * === Creating variant contexts === - * - * ==== By hand ==== - * - * Here's an example of a A/T polymorphism with the A being reference: - * - * 
    - * VariantContext vc = new VariantContext(name, snpLoc, Arrays.asList(Aref, T));
- *
    - * - * If you want to create a non-variant site, just put in a single reference allele - * - * 
    - * VariantContext vc = new VariantContext(name, snpLoc, Arrays.asList(Aref));
- *
    - * - * A deletion is just as easy: - * - * 
    - * VariantContext vc = new VariantContext(name, delLoc, Arrays.asList(ATCref, del));
- *
    - * - * The only 2 things that distinguishes between a insertion and deletion are the reference allele - * and the location of the variation. An insertion has a Null reference allele and at least - * one non-reference Non-Null allele. Additionally, the location of the insertion is immediately after - * a 1-bp GenomeLoc (at say 20). - * - * 
    - * VariantContext vc = new VariantContext("name", insLoc, Arrays.asList(delRef, ATC));
- *
    - * - * ==== Converting rods and other data structures to VCs ==== - * - * You can convert many common types into VariantContexts using the general function: - * - * 
    - * VariantContextAdaptors.convertToVariantContext(name, myObject)
- *
    - * - * dbSNP and VCFs, for example, can be passed in as myObject and a VariantContext corresponding to that - * object will be returned. A null return type indicates that the type isn't yet supported. This is the best - * and easiest way to create contexts using RODs. - * - * - * === Working with genotypes === - * - * 
    - * List alleles = Arrays.asList(Aref, T);
- * Genotype g1 = new Genotype(Arrays.asList(Aref, Aref), "g1", 10);
- * Genotype g2 = new Genotype(Arrays.asList(Aref, T), "g2", 10);
- * Genotype g3 = new Genotype(Arrays.asList(T, T), "g3", 10);
- * VariantContext vc = new VariantContext(snpLoc, alleles, Arrays.asList(g1, g2, g3));
- *
    - * - * At this point we have 3 genotypes in our context, g1-g3. - * - * You can assess a good deal of information about the genotypes through the VariantContext: - * - * 
    - * vc.hasGenotypes()
- * vc.isMonomorphicInSamples()
- * vc.isPolymorphicInSamples()
- * vc.getSamples().size()
- *
- * vc.getGenotypes()
- * vc.getGenotypes().get("g1")
- * vc.hasGenotype("g1")
- *
- * vc.getCalledChrCount()
- * vc.getCalledChrCount(Aref)
- * vc.getCalledChrCount(T)
- *
    - * - * === NO_CALL alleles === - * - * The system allows one to create Genotypes carrying special NO_CALL alleles that aren't present in the - * set of context alleles and that represent undetermined alleles in a genotype: - * - * Genotype g4 = new Genotype(Arrays.asList(Allele.NO_CALL, Allele.NO_CALL), "NO_DATA_FOR_SAMPLE", 10); - * - * - * === subcontexts === - * It's also very easy get subcontext based only the data in a subset of the genotypes: - * - * 
    - * VariantContext vc12 = vc.subContextFromGenotypes(Arrays.asList(g1,g2));
- * VariantContext vc1 = vc.subContextFromGenotypes(Arrays.asList(g1));
- *
    - * - * - * Fully decoding. Currently VariantContexts support some fields, particularly those - * stored as generic attributes, to be of any type. For example, a field AB might - * be naturally a floating point number, 0.51, but when it's read into a VC its - * not decoded into the Java presentation but left as a string "0.51". A fully - * decoded VariantContext is one where all values have been converted to their - * corresponding Java object types, based on the types declared in a VCFHeader. - * - * The fullyDecode() takes a header object and creates a new fully decoded VariantContext - * where all fields are converted to their true java representation. The VCBuilder - * can be told that all fields are fully decoded, in which case no work is done when - * asking for a fully decoded version of the VC. - * - * - * @author depristo - */ -public class VariantContext implements Feature { // to enable tribble integration - private final static boolean WARN_ABOUT_BAD_END = true; - private final static int MAX_ALLELE_SIZE_FOR_NON_SV = 150; - private boolean fullyDecoded = false; - protected CommonInfo commonInfo = null; - public final static double NO_LOG10_PERROR = CommonInfo.NO_LOG10_PERROR; - - public final static Set PASSES_FILTERS = Collections.unmodifiableSet(new LinkedHashSet()); - - /** The location of this VariantContext */ - final protected String contig; - final protected long start; - final protected long stop; - private final String ID; - - /** The type (cached for performance reasons) of this context */ - protected Type type = null; - - /** A set of the alleles segregating in this context */ - final protected List alleles; - - /** A mapping from sampleName -> genotype objects for all genotypes associated with this context */ - protected GenotypesContext genotypes = null; - - /** Counts for each of the possible Genotype types in this context */ - protected int[] genotypeCounts = null; - - public final static GenotypesContext NO_GENOTYPES = GenotypesContext.NO_GENOTYPES; - - // a fast cached access point to the ref / alt alleles for biallelic case - private Allele REF = null; - - // set to the alt allele when biallelic, otherwise == null - private Allele ALT = null; - - /* cached monomorphic value: null -> not yet computed, False, True */ - private Boolean monomorphic = null; - - // --------------------------------------------------------------------------------------------------------- - // - // validation mode - // - // --------------------------------------------------------------------------------------------------------- - - public enum Validation { - ALLELES, - GENOTYPES - } - - private final static EnumSet NO_VALIDATION = EnumSet.noneOf(Validation.class); - - // --------------------------------------------------------------------------------------------------------- - // - // constructors: see VariantContextBuilder - // - // --------------------------------------------------------------------------------------------------------- - - /** - * Copy constructor - * - * @param other the VariantContext to copy - */ - protected VariantContext(VariantContext other) { - this(other.getSource(), other.getID(), other.getChr(), other.getStart(), other.getEnd(), - other.getAlleles(), other.getGenotypes(), other.getLog10PError(), - other.getFiltersMaybeNull(), - other.getAttributes(), - other.fullyDecoded, NO_VALIDATION); - } - - /** - * the actual constructor. Private access only - * - * @param source source - * @param contig the contig - * @param start the start base (one based) - * @param stop the stop reference base (one based) - * @param alleles alleles - * @param genotypes genotypes map - * @param log10PError qual - * @param filters filters: use null for unfiltered and empty set for passes filters - * @param attributes attributes - * @param validationToPerform set of validation steps to take - */ - protected VariantContext(final String source, - final String ID, - final String contig, - final long start, - final long stop, - final Collection alleles, - final GenotypesContext genotypes, - final double log10PError, - final Set filters, - final Map attributes, - final boolean fullyDecoded, - final EnumSet validationToPerform ) { - if ( contig == null ) { throw new IllegalArgumentException("Contig cannot be null"); } - this.contig = contig; - this.start = start; - this.stop = stop; - - // intern for efficiency. equals calls will generate NPE if ID is inappropriately passed in as null - if ( ID == null || ID.equals("") ) throw new IllegalArgumentException("ID field cannot be the null or the empty string"); - this.ID = ID.equals(VCFConstants.EMPTY_ID_FIELD) ? VCFConstants.EMPTY_ID_FIELD : ID; - - this.commonInfo = new CommonInfo(source, log10PError, filters, attributes); - - if ( alleles == null ) { throw new IllegalArgumentException("Alleles cannot be null"); } - - // we need to make this a LinkedHashSet in case the user prefers a given ordering of alleles - this.alleles = makeAlleles(alleles); - - if ( genotypes == null || genotypes == NO_GENOTYPES ) { - this.genotypes = NO_GENOTYPES; - } else { - this.genotypes = genotypes.immutable(); - } - - // cache the REF and ALT alleles - int nAlleles = alleles.size(); - for ( Allele a : alleles ) { - if ( a.isReference() ) { - REF = a; - } else if ( nAlleles == 2 ) { // only cache ALT when biallelic - ALT = a; - } - } - - this.fullyDecoded = fullyDecoded; - - if ( ! validationToPerform.isEmpty() ) { - validate(validationToPerform); - } - } - - // --------------------------------------------------------------------------------------------------------- - // - // Selectors - // - // --------------------------------------------------------------------------------------------------------- - - /** - * This method subsets down to a set of samples. - * - * At the same time returns the alleles to just those in use by the samples, - * if rederiveAllelesFromGenotypes is true, otherwise the full set of alleles - * in this VC is returned as the set of alleles in the subContext, even if - * some of those alleles aren't in the samples - * - * WARNING: BE CAREFUL WITH rederiveAllelesFromGenotypes UNLESS YOU KNOW WHAT YOU ARE DOING? - * - * @param sampleNames the sample names - * @param rederiveAllelesFromGenotypes if true, returns the alleles to just those in use by the samples, true should be default - * @return new VariantContext subsetting to just the given samples - */ - public VariantContext subContextFromSamples(Set sampleNames, final boolean rederiveAllelesFromGenotypes ) { - if ( sampleNames.containsAll(getSampleNames()) && ! rederiveAllelesFromGenotypes ) { - return this; // fast path when you don't have any work to do - } else { - VariantContextBuilder builder = new VariantContextBuilder(this); - GenotypesContext newGenotypes = genotypes.subsetToSamples(sampleNames); - - if ( rederiveAllelesFromGenotypes ) - builder.alleles(allelesOfGenotypes(newGenotypes)); - else { - builder.alleles(alleles); - } - - return builder.genotypes(newGenotypes).make(); - } - } - - /** - * @see #subContextFromSamples(java.util.Set, boolean) with rederiveAllelesFromGenotypes = true - * - * @param sampleNames - * @return - */ - public VariantContext subContextFromSamples(final Set sampleNames) { - return subContextFromSamples(sampleNames, true); - } - - public VariantContext subContextFromSample(String sampleName) { - return subContextFromSamples(Collections.singleton(sampleName)); - } - - /** - * helper routine for subcontext - * @param genotypes genotypes - * @return allele set - */ - private final Set allelesOfGenotypes(Collection genotypes) { - final Set alleles = new HashSet(); - - boolean addedref = false; - for ( final Genotype g : genotypes ) { - for ( final Allele a : g.getAlleles() ) { - addedref = addedref || a.isReference(); - if ( a.isCalled() ) - alleles.add(a); - } - } - if ( ! addedref ) alleles.add(getReference()); - - return alleles; - } - - // --------------------------------------------------------------------------------------------------------- - // - // type operations - // - // --------------------------------------------------------------------------------------------------------- - - /** - * see: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=handbook&part=ch5&rendertype=table&id=ch5.ch5_t3 - * - * Format: - * dbSNP variation class - * Rules for assigning allele classes - * Sample allele definition - * - * Single Nucleotide Polymorphisms (SNPs)a - * Strictly defined as single base substitutions involving A, T, C, or G. - * A/T - * - * Deletion/Insertion Polymorphisms (DIPs) - * Designated using the full sequence of the insertion as one allele, and either a fully - * defined string for the variant allele or a '-' character to specify the deleted allele. - * This class will be assigned to a variation if the variation alleles are of different lengths or - * if one of the alleles is deleted ('-'). - * T/-/CCTA/G - * - * No-variation - * Reports may be submitted for segments of sequence that are assayed and determined to be invariant - * in the sample. - * (NoVariation) - * - * Mixed - * Mix of other classes - * - * Also supports NO_VARIATION type, used to indicate that the site isn't polymorphic in the population - * - * - * Not currently supported: - * - * Heterozygous sequence - * The term heterozygous is used to specify a region detected by certain methods that do not - * resolve the polymorphism into a specific sequence motif. In these cases, a unique flanking - * sequence must be provided to define a sequence context for the variation. - * (heterozygous) - * - * Microsatellite or short tandem repeat (STR) - * Alleles are designated by providing the repeat motif and the copy number for each allele. - * Expansion of the allele repeat motif designated in dbSNP into full-length sequence will - * be only an approximation of the true genomic sequence because many microsatellite markers are - * not fully sequenced and are resolved as size variants only. - * (CAC)8/9/10/11 - * - * Named variant - * Applies to insertion/deletion polymorphisms of longer sequence features, such as retroposon - * dimorphism for Alu or line elements. These variations frequently include a deletion '-' indicator - * for the absent allele. - * (alu) / - - * - * Multi-Nucleotide Polymorphism (MNP) - * Assigned to variations that are multi-base variations of a single, common length - * GGA/AGT - */ - public enum Type { - NO_VARIATION, - SNP, - MNP, // a multi-nucleotide polymorphism - INDEL, - SYMBOLIC, - MIXED, - } - - /** - * Determines (if necessary) and returns the type of this variation by examining the alleles it contains. - * - * @return the type of this VariantContext - **/ - public Type getType() { - if ( type == null ) - determineType(); - - return type; - } - - /** - * convenience method for SNPs - * - * @return true if this is a SNP, false otherwise - */ - public boolean isSNP() { return getType() == Type.SNP; } - - - /** - * convenience method for variants - * - * @return true if this is a variant allele, false if it's reference - */ - public boolean isVariant() { return getType() != Type.NO_VARIATION; } - - /** - * convenience method for point events - * - * @return true if this is a SNP or ref site, false if it's an indel or mixed event - */ - public boolean isPointEvent() { return isSNP() || !isVariant(); } - - /** - * convenience method for indels - * - * @return true if this is an indel, false otherwise - */ - public boolean isIndel() { return getType() == Type.INDEL; } - - /** - * @return true if the alleles indicate a simple insertion (i.e., the reference allele is Null) - */ - public boolean isSimpleInsertion() { - // can't just call !isSimpleDeletion() because of complex indels - return getType() == Type.INDEL && isBiallelic() && getReference().length() == 1; - } - - /** - * @return true if the alleles indicate a simple deletion (i.e., a single alt allele that is Null) - */ - public boolean isSimpleDeletion() { - // can't just call !isSimpleInsertion() because of complex indels - return getType() == Type.INDEL && isBiallelic() && getAlternateAllele(0).length() == 1; - } - - /** - * @return true if the alleles indicate neither a simple deletion nor a simple insertion - */ - public boolean isComplexIndel() { - return isIndel() && !isSimpleDeletion() && !isSimpleInsertion(); - } - - public boolean isSymbolic() { - return getType() == Type.SYMBOLIC; - } - - public boolean isStructuralIndel() { - if ( getType() == Type.INDEL ) { - List sizes = getIndelLengths(); - if ( sizes != null ) { - for ( Integer length : sizes ) { - if ( length > MAX_ALLELE_SIZE_FOR_NON_SV ) { - return true; - } - } - } - } - return false; - } - - /** - * - * @return true if the variant is symbolic or a large indel - */ - public boolean isSymbolicOrSV() { - return isSymbolic() || isStructuralIndel(); - } - - public boolean isMNP() { - return getType() == Type.MNP; - } - - /** - * convenience method for indels - * - * @return true if this is an mixed variation, false otherwise - */ - public boolean isMixed() { return getType() == Type.MIXED; } - - - // --------------------------------------------------------------------------------------------------------- - // - // Generic accessors - // - // --------------------------------------------------------------------------------------------------------- - - public boolean hasID() { - return getID() != VCFConstants.EMPTY_ID_FIELD; - } - - public boolean emptyID() { - return ! hasID(); - } - - public String getID() { - return ID; - } - - - // --------------------------------------------------------------------------------------------------------- - // - // get routines to access context info fields - // - // --------------------------------------------------------------------------------------------------------- - public String getSource() { return commonInfo.getName(); } - public Set getFiltersMaybeNull() { return commonInfo.getFiltersMaybeNull(); } - public Set getFilters() { return commonInfo.getFilters(); } - public boolean isFiltered() { return commonInfo.isFiltered(); } - public boolean isNotFiltered() { return commonInfo.isNotFiltered(); } - public boolean filtersWereApplied() { return commonInfo.filtersWereApplied(); } - public boolean hasLog10PError() { return commonInfo.hasLog10PError(); } - public double getLog10PError() { return commonInfo.getLog10PError(); } - public double getPhredScaledQual() { return commonInfo.getPhredScaledQual(); } - - public Map getAttributes() { return commonInfo.getAttributes(); } - public boolean hasAttribute(String key) { return commonInfo.hasAttribute(key); } - public Object getAttribute(String key) { return commonInfo.getAttribute(key); } - - public Object getAttribute(String key, Object defaultValue) { - return commonInfo.getAttribute(key, defaultValue); - } - - public String getAttributeAsString(String key, String defaultValue) { return commonInfo.getAttributeAsString(key, defaultValue); } - public int getAttributeAsInt(String key, int defaultValue) { return commonInfo.getAttributeAsInt(key, defaultValue); } - public double getAttributeAsDouble(String key, double defaultValue) { return commonInfo.getAttributeAsDouble(key, defaultValue); } - public boolean getAttributeAsBoolean(String key, boolean defaultValue) { return commonInfo.getAttributeAsBoolean(key, defaultValue); } - - public CommonInfo getCommonInfo() { - return commonInfo; - } - - // --------------------------------------------------------------------------------------------------------- - // - // Working with alleles - // - // --------------------------------------------------------------------------------------------------------- - - /** - * @return the reference allele for this context - */ - public Allele getReference() { - Allele ref = REF; - if ( ref == null ) - throw new IllegalStateException("BUG: no reference allele found at " + this); - return ref; - } - - - /** - * @return true if the context is strictly bi-allelic - */ - public boolean isBiallelic() { - return getNAlleles() == 2; - } - - /** - * @return The number of segregating alleles in this context - */ - public int getNAlleles() { - return alleles.size(); - } - - /** - * Returns the maximum ploidy of all samples in this VC, or default if there are no genotypes - * - * This function is caching, so it's only expensive on the first call - * - * @param defaultPloidy the default ploidy, if all samples are no-called - * @return default, or the max ploidy - */ - public int getMaxPloidy(final int defaultPloidy) { - return genotypes.getMaxPloidy(defaultPloidy); - } - - /** - * @return The allele sharing the same bases as this String. A convenience method; better to use byte[] - */ - public Allele getAllele(String allele) { - return getAllele(allele.getBytes()); - } - - /** - * @return The allele sharing the same bases as this byte[], or null if no such allele is present. - */ - public Allele getAllele(byte[] allele) { - return Allele.getMatchingAllele(getAlleles(), allele); - } - - /** - * @return True if this context contains Allele allele, or false otherwise - */ - public boolean hasAllele(final Allele allele) { - return hasAllele(allele, false, true); - } - - public boolean hasAllele(final Allele allele, final boolean ignoreRefState) { - return hasAllele(allele, ignoreRefState, true); - } - - public boolean hasAlternateAllele(final Allele allele) { - return hasAllele(allele, false, false); - } - - public boolean hasAlternateAllele(final Allele allele, final boolean ignoreRefState) { - return hasAllele(allele, ignoreRefState, false); - } - - private boolean hasAllele(final Allele allele, final boolean ignoreRefState, final boolean considerRefAllele) { - if ( (considerRefAllele && allele == REF) || allele == ALT ) // optimization for cached cases - return true; - - final List allelesToConsider = considerRefAllele ? getAlleles() : getAlternateAlleles(); - for ( Allele a : allelesToConsider ) { - if ( a.equals(allele, ignoreRefState) ) - return true; - } - - return false; - } - - - /** - * Gets the alleles. This method should return all of the alleles present at the location, - * including the reference allele. There are no constraints imposed on the ordering of alleles - * in the set. If the reference is not an allele in this context it will not be included. - * - * @return the set of alleles - */ - public List getAlleles() { return alleles; } - - /** - * Gets the alternate alleles. This method should return all the alleles present at the location, - * NOT including the reference allele. There are no constraints imposed on the ordering of alleles - * in the set. - * - * @return the set of alternate alleles - */ - public List getAlternateAlleles() { - return alleles.subList(1, alleles.size()); - } - - /** - * Gets the sizes of the alternate alleles if they are insertion/deletion events, and returns a list of their sizes - * - * @return a list of indel lengths ( null if not of type indel or mixed ) - */ - public List getIndelLengths() { - if ( getType() != Type.INDEL && getType() != Type.MIXED ) { - return null; - } - - List lengths = new ArrayList(); - for ( Allele a : getAlternateAlleles() ) { - lengths.add(a.length() - getReference().length()); - } - - return lengths; - } - - /** - * @param i -- the ith allele (from 0 to n - 2 for a context with n alleles including a reference allele) - * @return the ith non-reference allele in this context - * @throws IllegalArgumentException if i is invalid - */ - public Allele getAlternateAllele(int i) { - return alleles.get(i+1); - } - - /** - * @param other VariantContext whose alleles to compare against - * @return true if this VariantContext has the same alleles (both ref and alts) as other, - * regardless of ordering. Otherwise returns false. - */ - public boolean hasSameAllelesAs ( final VariantContext other ) { - return hasSameAlternateAllelesAs(other) && other.getReference().equals(getReference(), false); - } - - /** - * @param other VariantContext whose alternate alleles to compare against - * @return true if this VariantContext has the same alternate alleles as other, - * regardless of ordering. Otherwise returns false. - */ - public boolean hasSameAlternateAllelesAs ( final VariantContext other ) { - List thisAlternateAlleles = getAlternateAlleles(); - List otherAlternateAlleles = other.getAlternateAlleles(); - - if ( thisAlternateAlleles.size() != otherAlternateAlleles.size() ) { - return false; - } - - for ( Allele allele : thisAlternateAlleles ) { - if ( ! otherAlternateAlleles.contains(allele) ) { - return false; - } - } - - return true; - } - - // --------------------------------------------------------------------------------------------------------- - // - // Working with genotypes - // - // --------------------------------------------------------------------------------------------------------- - - /** - * @return the number of samples in the context - */ - public int getNSamples() { - return genotypes.size(); - } - - /** - * @return true if the context has associated genotypes - */ - public boolean hasGenotypes() { - return ! genotypes.isEmpty(); - } - - public boolean hasGenotypes(Collection sampleNames) { - return genotypes.containsSamples(sampleNames); - } - - /** - * @return set of all Genotypes associated with this context - */ - public GenotypesContext getGenotypes() { - return genotypes; - } - - public Iterable getGenotypesOrderedByName() { - return genotypes.iterateInSampleNameOrder(); - } - - public Iterable getGenotypesOrderedBy(Iterable sampleOrdering) { - return genotypes.iterateInSampleNameOrder(sampleOrdering); - } - - /** - * Returns a map from sampleName -> Genotype for the genotype associated with sampleName. Returns a map - * for consistency with the multi-get function. - * - * @param sampleName the sample name - * @return mapping from sample name to genotype - * @throws IllegalArgumentException if sampleName isn't bound to a genotype - */ - public GenotypesContext getGenotypes(String sampleName) { - return getGenotypes(Collections.singleton(sampleName)); - } - - /** - * Returns a map from sampleName -> Genotype for each sampleName in sampleNames. Returns a map - * for consistency with the multi-get function. - * - * For testing convenience only - * - * @param sampleNames a unique list of sample names - * @return subsetting genotypes context - * @throws IllegalArgumentException if sampleName isn't bound to a genotype - */ - protected GenotypesContext getGenotypes(Collection sampleNames) { - return getGenotypes().subsetToSamples(new HashSet(sampleNames)); - } - - public GenotypesContext getGenotypes(Set sampleNames) { - return getGenotypes().subsetToSamples(sampleNames); - } - - - /** - * @return the set of all sample names in this context, not ordered - */ - public Set getSampleNames() { - return getGenotypes().getSampleNames(); - } - - public List getSampleNamesOrderedByName() { - return getGenotypes().getSampleNamesOrderedByName(); - } - - /** - * @param sample the sample name - * - * @return the Genotype associated with the given sample in this context or null if the sample is not in this context - */ - public Genotype getGenotype(String sample) { - return getGenotypes().get(sample); - } - - public boolean hasGenotype(String sample) { - return getGenotypes().containsSample(sample); - } - - public Genotype getGenotype(int ith) { - return genotypes.get(ith); - } - - - /** - * Returns the number of chromosomes carrying any allele in the genotypes (i.e., excluding NO_CALLS) - * - * @return chromosome count - */ - public int getCalledChrCount() { - final Set noSamples = Collections.emptySet(); - return getCalledChrCount(noSamples); - } - - /** - * Returns the number of chromosomes carrying any allele in the genotypes (i.e., excluding NO_CALLS) - * - * @param sampleIds IDs of samples to take into account. If empty then all samples are included. - * @return chromosome count - */ - public int getCalledChrCount(Set sampleIds) { - int n = 0; - GenotypesContext genotypes = sampleIds.isEmpty() ? getGenotypes() : getGenotypes(sampleIds); - - for ( final Genotype g : genotypes) { - for ( final Allele a : g.getAlleles() ) - n += a.isNoCall() ? 0 : 1; - } - - return n; - } - - /** - * Returns the number of chromosomes carrying allele A in the genotypes - * - * @param a allele - * @return chromosome count - */ - public int getCalledChrCount(Allele a) { - return getCalledChrCount(a,new HashSet(0)); - } - - /** - * Returns the number of chromosomes carrying allele A in the genotypes - * - * @param a allele - * @param sampleIds - IDs of samples to take into account. If empty then all samples are included. - * @return chromosome count - */ - public int getCalledChrCount(Allele a, Set sampleIds) { - int n = 0; - GenotypesContext genotypes = sampleIds.isEmpty() ? getGenotypes() : getGenotypes(sampleIds); - - for ( final Genotype g : genotypes ) { - n += g.countAllele(a); - } - - return n; - } - - /** - * Genotype-specific functions -- are the genotypes monomorphic w.r.t. to the alleles segregating at this - * site? That is, is the number of alternate alleles among all fo the genotype == 0? - * - * @return true if it's monomorphic - */ - public boolean isMonomorphicInSamples() { - if ( monomorphic == null ) - monomorphic = ! isVariant() || (hasGenotypes() && getCalledChrCount(getReference()) == getCalledChrCount()); - return monomorphic; - } - - /** - * Genotype-specific functions -- are the genotypes polymorphic w.r.t. to the alleles segregating at this - * site? That is, is the number of alternate alleles among all fo the genotype > 0? - * - * @return true if it's polymorphic - */ - public boolean isPolymorphicInSamples() { - return ! isMonomorphicInSamples(); - } - - private void calculateGenotypeCounts() { - if ( genotypeCounts == null ) { - genotypeCounts = new int[GenotypeType.values().length]; - - for ( final Genotype g : getGenotypes() ) { - genotypeCounts[g.getType().ordinal()]++; - } - } - } - - /** - * Genotype-specific functions -- how many no-calls are there in the genotypes? - * - * @return number of no calls - */ - public int getNoCallCount() { - calculateGenotypeCounts(); - return genotypeCounts[GenotypeType.NO_CALL.ordinal()]; - } - - /** - * Genotype-specific functions -- how many hom ref calls are there in the genotypes? - * - * @return number of hom ref calls - */ - public int getHomRefCount() { - calculateGenotypeCounts(); - return genotypeCounts[GenotypeType.HOM_REF.ordinal()]; - } - - /** - * Genotype-specific functions -- how many het calls are there in the genotypes? - * - * @return number of het calls - */ - public int getHetCount() { - calculateGenotypeCounts(); - return genotypeCounts[GenotypeType.HET.ordinal()]; - } - - /** - * Genotype-specific functions -- how many hom var calls are there in the genotypes? - * - * @return number of hom var calls - */ - public int getHomVarCount() { - calculateGenotypeCounts(); - return genotypeCounts[GenotypeType.HOM_VAR.ordinal()]; - } - - /** - * Genotype-specific functions -- how many mixed calls are there in the genotypes? - * - * @return number of mixed calls - */ - public int getMixedCount() { - calculateGenotypeCounts(); - return genotypeCounts[GenotypeType.MIXED.ordinal()]; - } - - // --------------------------------------------------------------------------------------------------------- - // - // validation: extra-strict validation routines for paranoid users - // - // --------------------------------------------------------------------------------------------------------- - - /** - * Run all extra-strict validation tests on a Variant Context object - * - * @param reportedReference the reported reference allele - * @param observedReference the actual reference allele - * @param rsIDs the true dbSNP IDs - */ - public void extraStrictValidation(final Allele reportedReference, final Allele observedReference, final Set rsIDs) { - // validate the reference - validateReferenceBases(reportedReference, observedReference); - - // validate the RS IDs - validateRSIDs(rsIDs); - - // validate the altenate alleles - validateAlternateAlleles(); - - // validate the AN and AC fields - validateChromosomeCounts(); - - // TODO: implement me - //checkReferenceTrack(); - } - - public void validateReferenceBases(final Allele reportedReference, final Allele observedReference) { - if ( reportedReference != null && !reportedReference.basesMatch(observedReference) ) { - throw new TribbleException.InternalCodecException(String.format("the REF allele is incorrect for the record at position %s:%d, fasta says %s vs. VCF says %s", getChr(), getStart(), observedReference.getBaseString(), reportedReference.getBaseString())); - } - } - - public void validateRSIDs(Set rsIDs) { - if ( rsIDs != null && hasID() ) { - for ( String id : getID().split(VCFConstants.ID_FIELD_SEPARATOR) ) { - if ( id.startsWith("rs") && !rsIDs.contains(id) ) - throw new TribbleException.InternalCodecException(String.format("the rsID %s for the record at position %s:%d is not in dbSNP", id, getChr(), getStart())); - } - } - } - - public void validateAlternateAlleles() { - if ( !hasGenotypes() ) - return; - - List reportedAlleles = getAlleles(); - Set observedAlleles = new HashSet(); - observedAlleles.add(getReference()); - for ( final Genotype g : getGenotypes() ) { - if ( g.isCalled() ) - observedAlleles.addAll(g.getAlleles()); - } - if ( observedAlleles.contains(Allele.NO_CALL) ) - observedAlleles.remove(Allele.NO_CALL); - - if ( reportedAlleles.size() != observedAlleles.size() ) - throw new TribbleException.InternalCodecException(String.format("one or more of the ALT allele(s) for the record at position %s:%d are not observed at all in the sample genotypes", getChr(), getStart())); - - int originalSize = reportedAlleles.size(); - // take the intersection and see if things change - observedAlleles.retainAll(reportedAlleles); - if ( observedAlleles.size() != originalSize ) - throw new TribbleException.InternalCodecException(String.format("one or more of the ALT allele(s) for the record at position %s:%d are not observed at all in the sample genotypes", getChr(), getStart())); - } - - public void validateChromosomeCounts() { - if ( !hasGenotypes() ) - return; - - // AN - if ( hasAttribute(VCFConstants.ALLELE_NUMBER_KEY) ) { - int reportedAN = Integer.valueOf(getAttribute(VCFConstants.ALLELE_NUMBER_KEY).toString()); - int observedAN = getCalledChrCount(); - if ( reportedAN != observedAN ) - throw new TribbleException.InternalCodecException(String.format("the Allele Number (AN) tag is incorrect for the record at position %s:%d, %d vs. %d", getChr(), getStart(), reportedAN, observedAN)); - } - - // AC - if ( hasAttribute(VCFConstants.ALLELE_COUNT_KEY) ) { - ArrayList observedACs = new ArrayList(); - - // if there are alternate alleles, record the relevant tags - if ( getAlternateAlleles().size() > 0 ) { - for ( Allele allele : getAlternateAlleles() ) { - observedACs.add(getCalledChrCount(allele)); - } - } - else { // otherwise, set them to 0 - observedACs.add(0); - } - - if ( getAttribute(VCFConstants.ALLELE_COUNT_KEY) instanceof List ) { - Collections.sort(observedACs); - List reportedACs = (List)getAttribute(VCFConstants.ALLELE_COUNT_KEY); - Collections.sort(reportedACs); - if ( observedACs.size() != reportedACs.size() ) - throw new TribbleException.InternalCodecException(String.format("the Allele Count (AC) tag doesn't have the correct number of values for the record at position %s:%d, %d vs. %d", getChr(), getStart(), reportedACs.size(), observedACs.size())); - for (int i = 0; i < observedACs.size(); i++) { - if ( Integer.valueOf(reportedACs.get(i).toString()) != observedACs.get(i) ) - throw new TribbleException.InternalCodecException(String.format("the Allele Count (AC) tag is incorrect for the record at position %s:%d, %s vs. %d", getChr(), getStart(), reportedACs.get(i), observedACs.get(i))); - } - } else { - if ( observedACs.size() != 1 ) - throw new TribbleException.InternalCodecException(String.format("the Allele Count (AC) tag doesn't have enough values for the record at position %s:%d", getChr(), getStart())); - int reportedAC = Integer.valueOf(getAttribute(VCFConstants.ALLELE_COUNT_KEY).toString()); - if ( reportedAC != observedACs.get(0) ) - throw new TribbleException.InternalCodecException(String.format("the Allele Count (AC) tag is incorrect for the record at position %s:%d, %d vs. %d", getChr(), getStart(), reportedAC, observedACs.get(0))); - } - } - } - - // --------------------------------------------------------------------------------------------------------- - // - // validation: the normal validation routines are called automatically upon creation of the VC - // - // --------------------------------------------------------------------------------------------------------- - - private boolean validate(final EnumSet validationToPerform) { - validateStop(); - for (final Validation val : validationToPerform ) { - switch (val) { - case ALLELES: validateAlleles(); break; - case GENOTYPES: validateGenotypes(); break; - default: throw new IllegalArgumentException("Unexpected validation mode " + val); - } - } - - return true; - } - - /** - * Check that getEnd() == END from the info field, if it's present - */ - private void validateStop() { - if ( hasAttribute(VCFConstants.END_KEY) ) { - final int end = getAttributeAsInt(VCFConstants.END_KEY, -1); - assert end != -1; - if ( end != getEnd() ) { - final String message = "Badly formed variant context at location " + getChr() + ":" - + getStart() + "; getEnd() was " + getEnd() - + " but this VariantContext contains an END key with value " + end; - if ( GeneralUtils.DEBUG_MODE_ENABLED && WARN_ABOUT_BAD_END ) { - System.err.println(message); - } - else { - throw new TribbleException(message); - } - } - } else { - final long length = (stop - start) + 1; - if ( ! hasSymbolicAlleles() && length != getReference().length() ) { - throw new IllegalStateException("BUG: GenomeLoc " + contig + ":" + start + "-" + stop + " has a size == " + length + " but the variation reference allele has length " + getReference().length() + " this = " + this); - } - } - } - - private void validateAlleles() { - - boolean alreadySeenRef = false; - - for ( final Allele allele : alleles ) { - // make sure there's only one reference allele - if ( allele.isReference() ) { - if ( alreadySeenRef ) throw new IllegalArgumentException("BUG: Received two reference tagged alleles in VariantContext " + alleles + " this=" + this); - alreadySeenRef = true; - } - - if ( allele.isNoCall() ) { - throw new IllegalArgumentException("BUG: Cannot add a no call allele to a variant context " + alleles + " this=" + this); - } - } - - // make sure there's one reference allele - if ( ! alreadySeenRef ) - throw new IllegalArgumentException("No reference allele found in VariantContext"); - } - - private void validateGenotypes() { - if ( this.genotypes == null ) throw new IllegalStateException("Genotypes is null"); - - for ( final Genotype g : this.genotypes ) { - if ( g.isAvailable() ) { - for ( Allele gAllele : g.getAlleles() ) { - if ( ! hasAllele(gAllele) && gAllele.isCalled() ) - throw new IllegalStateException("Allele in genotype " + gAllele + " not in the variant context " + alleles); - } - } - } - } - - // --------------------------------------------------------------------------------------------------------- - // - // utility routines - // - // --------------------------------------------------------------------------------------------------------- - - private void determineType() { - if ( type == null ) { - switch ( getNAlleles() ) { - case 0: - throw new IllegalStateException("Unexpected error: requested type of VariantContext with no alleles!" + this); - case 1: - // note that this doesn't require a reference allele. You can be monomorphic independent of having a - // reference allele - type = Type.NO_VARIATION; - break; - default: - determinePolymorphicType(); - } - } - } - - private void determinePolymorphicType() { - type = null; - - // do a pairwise comparison of all alleles against the reference allele - for ( Allele allele : alleles ) { - if ( allele == REF ) - continue; - - // find the type of this allele relative to the reference - Type biallelicType = typeOfBiallelicVariant(REF, allele); - - // for the first alternate allele, set the type to be that one - if ( type == null ) { - type = biallelicType; - } - // if the type of this allele is different from that of a previous one, assign it the MIXED type and quit - else if ( biallelicType != type ) { - type = Type.MIXED; - return; - } - } - } - - private static Type typeOfBiallelicVariant(Allele ref, Allele allele) { - if ( ref.isSymbolic() ) - throw new IllegalStateException("Unexpected error: encountered a record with a symbolic reference allele"); - - if ( allele.isSymbolic() ) - return Type.SYMBOLIC; - - if ( ref.length() == allele.length() ) { - if ( allele.length() == 1 ) - return Type.SNP; - else - return Type.MNP; - } - - // Important note: previously we were checking that one allele is the prefix of the other. However, that's not an - // appropriate check as can be seen from the following example: - // REF = CTTA and ALT = C,CT,CA - // This should be assigned the INDEL type but was being marked as a MIXED type because of the prefix check. - // In truth, it should be absolutely impossible to return a MIXED type from this method because it simply - // performs a pairwise comparison of a single alternate allele against the reference allele (whereas the MIXED type - // is reserved for cases of multiple alternate alleles of different types). Therefore, if we've reached this point - // in the code (so we're not a SNP, MNP, or symbolic allele), we absolutely must be an INDEL. - - return Type.INDEL; - - // old incorrect logic: - // if (oneIsPrefixOfOther(ref, allele)) - // return Type.INDEL; - // else - // return Type.MIXED; - } - - public String toString() { - return String.format("[VC %s @ %s Q%s of type=%s alleles=%s attr=%s GT=%s", - getSource(), contig + ":" + (start - stop == 0 ? start : start + "-" + stop), - hasLog10PError() ? String.format("%.2f", getPhredScaledQual()) : ".", - this.getType(), - ParsingUtils.sortList(this.getAlleles()), - ParsingUtils.sortedString(this.getAttributes()), - this.getGenotypes()); - } - - public String toStringWithoutGenotypes() { - return String.format("[VC %s @ %s Q%s of type=%s alleles=%s attr=%s", - getSource(), contig + ":" + (start - stop == 0 ? start : start + "-" + stop), - hasLog10PError() ? String.format("%.2f", getPhredScaledQual()) : ".", - this.getType(), - ParsingUtils.sortList(this.getAlleles()), - ParsingUtils.sortedString(this.getAttributes())); - } - - // protected basic manipulation routines - private static List makeAlleles(Collection alleles) { - final List alleleList = new ArrayList(alleles.size()); - - boolean sawRef = false; - for ( final Allele a : alleles ) { - for ( final Allele b : alleleList ) { - if ( a.equals(b, true) ) - throw new IllegalArgumentException("Duplicate allele added to VariantContext: " + a); - } - - // deal with the case where the first allele isn't the reference - if ( a.isReference() ) { - if ( sawRef ) - throw new IllegalArgumentException("Alleles for a VariantContext must contain at most one reference allele: " + alleles); - alleleList.add(0, a); - sawRef = true; - } - else - alleleList.add(a); - } - - if ( alleleList.isEmpty() ) - throw new IllegalArgumentException("Cannot create a VariantContext with an empty allele list"); - - if ( alleleList.get(0).isNonReference() ) - throw new IllegalArgumentException("Alleles for a VariantContext must contain at least one reference allele: " + alleles); - - return alleleList; - } - - // --------------------------------------------------------------------------------------------------------- - // - // Fully decode - // - // --------------------------------------------------------------------------------------------------------- - - /** - * Return a VC equivalent to this one but where all fields are fully decoded - * - * See VariantContext document about fully decoded - * - * @param header containing types about all fields in this VC - * @return a fully decoded version of this VC - */ - public VariantContext fullyDecode(final VCFHeader header, final boolean lenientDecoding) { - if ( isFullyDecoded() ) - return this; - else { - // TODO -- warning this is potentially very expensive as it creates copies over and over - final VariantContextBuilder builder = new VariantContextBuilder(this); - fullyDecodeInfo(builder, header, lenientDecoding); - fullyDecodeGenotypes(builder, header); - builder.fullyDecoded(true); - return builder.make(); - } - } - - /** - * See VariantContext document about fully decoded - * @return true if this is a fully decoded VC - */ - public boolean isFullyDecoded() { - return fullyDecoded; - } - - private final void fullyDecodeInfo(final VariantContextBuilder builder, final VCFHeader header, final boolean lenientDecoding) { - builder.attributes(fullyDecodeAttributes(getAttributes(), header, lenientDecoding)); - } - - private final Map fullyDecodeAttributes(final Map attributes, - final VCFHeader header, - final boolean lenientDecoding) { - final Map newAttributes = new HashMap(10); - - for ( final Map.Entry attr : attributes.entrySet() ) { - final String field = attr.getKey(); - - if ( field.equals(VCFConstants.GENOTYPE_FILTER_KEY) ) - continue; // gross, FT is part of the extended attributes - - final VCFCompoundHeaderLine format = VariantContextUtils.getMetaDataForField(header, field); - final Object decoded = decodeValue(field, attr.getValue(), format); - - if ( decoded != null && - ! lenientDecoding - && format.getCountType() != VCFHeaderLineCount.UNBOUNDED - && format.getType() != VCFHeaderLineType.Flag ) { // we expect exactly the right number of elements - final int obsSize = decoded instanceof List ? ((List) decoded).size() : 1; - final int expSize = format.getCount(this); - if ( obsSize != expSize ) { - throw new TribbleException.InvalidHeader("Discordant field size detected for field " + - field + " at " + getChr() + ":" + getStart() + ". Field had " + obsSize + " values " + - "but the header says this should have " + expSize + " values based on header record " + - format); - } - } - newAttributes.put(field, decoded); - } - - return newAttributes; - } - - private final Object decodeValue(final String field, final Object value, final VCFCompoundHeaderLine format) { - if ( value instanceof String ) { - if ( field.equals(VCFConstants.GENOTYPE_PL_KEY) ) - return GenotypeLikelihoods.fromPLField((String)value); - - final String string = (String)value; - if ( string.indexOf(",") != -1 ) { - final String[] splits = string.split(","); - final List values = new ArrayList(splits.length); - for ( int i = 0; i < splits.length; i++ ) - values.add(decodeOne(field, splits[i], format)); - return values; - } else { - return decodeOne(field, string, format); - } - } else if ( value instanceof List && (((List) value).get(0)) instanceof String ) { - final List asList = (List)value; - final List values = new ArrayList(asList.size()); - for ( final String s : asList ) - values.add(decodeOne(field, s, format)); - return values; - } else { - return value; - } - - // allowMissingValuesComparedToHeader - } - - private final Object decodeOne(final String field, final String string, final VCFCompoundHeaderLine format) { - try { - if ( string.equals(VCFConstants.MISSING_VALUE_v4) ) - return null; - else { - switch ( format.getType() ) { - case Character: return string; - case Flag: - final boolean b = Boolean.valueOf(string) || string.equals("1"); - if ( b == false ) - throw new TribbleException("VariantContext FLAG fields " + field + " cannot contain false values" - + " as seen at " + getChr() + ":" + getStart()); - return b; - case String: return string; - case Integer: return Integer.valueOf(string); - case Float: return Double.valueOf(string); - default: throw new TribbleException("Unexpected type for field" + field); - } - } - } catch (NumberFormatException e) { - throw new TribbleException("Could not decode field " + field + " with value " + string + " of declared type " + format.getType()); - } - } - - private final void fullyDecodeGenotypes(final VariantContextBuilder builder, final VCFHeader header) { - final GenotypesContext gc = new GenotypesContext(); - for ( final Genotype g : getGenotypes() ) { - gc.add(fullyDecodeGenotypes(g, header)); - } - builder.genotypesNoValidation(gc); - } - - private final Genotype fullyDecodeGenotypes(final Genotype g, final VCFHeader header) { - final Map map = fullyDecodeAttributes(g.getExtendedAttributes(), header, true); - return new GenotypeBuilder(g).attributes(map).make(); - } - - // --------------------------------------------------------------------------------------------------------- - // - // tribble integration routines -- not for public consumption - // - // --------------------------------------------------------------------------------------------------------- - public String getChr() { - return contig; - } - - public int getStart() { - return (int)start; - } - - public int getEnd() { - return (int)stop; - } - - public boolean hasSymbolicAlleles() { - return hasSymbolicAlleles(getAlleles()); - } - - public static boolean hasSymbolicAlleles( final List alleles ) { - for ( final Allele a: alleles ) { - if (a.isSymbolic()) { - return true; - } - } - return false; - } - - public Allele getAltAlleleWithHighestAlleleCount() { - // optimization: for bi-allelic sites, just return the 1only alt allele - if ( isBiallelic() ) - return getAlternateAllele(0); - - Allele best = null; - int maxAC1 = 0; - for ( Allele a : getAlternateAlleles() ) { - final int ac = getCalledChrCount(a); - if ( ac >= maxAC1 ) { - maxAC1 = ac; - best = a; - } - - } - return best; - } - - /** - * Lookup the index of allele in this variant context - * - * @param allele the allele whose index we want to get - * @return the index of the allele into getAlleles(), or -1 if it cannot be found - */ - public int getAlleleIndex(final Allele allele) { - return getAlleles().indexOf(allele); - } - - /** - * Return the allele index #getAlleleIndex for each allele in alleles - * - * @param alleles the alleles we want to look up - * @return a list of indices for each allele, in order - */ - public List getAlleleIndices(final Collection alleles) { - final List indices = new LinkedList(); - for ( final Allele allele : alleles ) - indices.add(getAlleleIndex(allele)); - return indices; - } - - public int[] getGLIndecesOfAlternateAllele(Allele targetAllele) { - final int index = getAlleleIndex(targetAllele); - if ( index == -1 ) throw new IllegalArgumentException("Allele " + targetAllele + " not in this VariantContex " + this); - return GenotypeLikelihoods.getPLIndecesOfAlleles(0, index); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/VariantContextBuilder.java b/public/java/src/org/broadinstitute/variant/variantcontext/VariantContextBuilder.java deleted file mode 100644 index 276a6931a..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/VariantContextBuilder.java +++ /dev/null @@ -1,482 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import com.google.java.contract.*; -import org.broadinstitute.variant.vcf.VCFConstants; - -import java.util.*; - -/** - * Builder class for VariantContext - * - * Some basic assumptions here: - * - * 1 -- data isn't protectively copied. If you provide an attribute map to - * the build, and modify it later, the builder will see this and so will any - * resulting variant contexts. It's best not to modify collections provided - * to a builder. - * - * 2 -- the system uses the standard builder model, allowing the simple construction idiom: - * - * builder.source("a").genotypes(gc).id("x").make() => VariantContext - * - * 3 -- The best way to copy a VariantContext is: - * - * new VariantContextBuilder(vc).make() => a copy of VC - * - * 4 -- validation of arguments is done at the during the final make() call, so a - * VariantContextBuilder can exist in an inconsistent state as long as those issues - * are resolved before the call to make() is issued. - * - * @author depristo - */ -public class VariantContextBuilder { - // required fields - private boolean fullyDecoded = false; - private String source = null; - private String contig = null; - private long start = -1; - private long stop = -1; - private Collection alleles = null; - - // optional -> these are set to the appropriate default value - private String ID = VCFConstants.EMPTY_ID_FIELD; - private GenotypesContext genotypes = GenotypesContext.NO_GENOTYPES; - private double log10PError = VariantContext.NO_LOG10_PERROR; - private Set filters = null; - private Map attributes = null; - private boolean attributesCanBeModified = false; - - /** enum of what must be validated */ - final private EnumSet toValidate = EnumSet.noneOf(VariantContext.Validation.class); - - /** - * Create an empty VariantContextBuilder where all values adopt their default values. Note that - * source, chr, start, stop, and alleles must eventually be filled in, or the resulting VariantContext - * will throw an error. - */ - public VariantContextBuilder() {} - - /** - * Create an empty VariantContextBuilder where all values adopt their default values, but the bare min. - * of info (source, chr, start, stop, and alleles) have been provided to start. - */ - @Requires({"source != null", "contig != null", "start >= 0", "stop >= 0", - "alleles != null && !alleles.isEmpty()"}) - public VariantContextBuilder(String source, String contig, long start, long stop, Collection alleles) { - this.source = source; - this.contig = contig; - this.start = start; - this.stop = stop; - this.alleles = alleles; - this.attributes = Collections.emptyMap(); // immutable - toValidate.add(VariantContext.Validation.ALLELES); - } - - /** - * Returns a new builder based on parent -- the new VC will have all fields initialized - * to their corresponding values in parent. This is the best way to create a derived VariantContext - * - * @param parent Cannot be null - */ - public VariantContextBuilder(VariantContext parent) { - if ( parent == null ) throw new IllegalArgumentException("BUG: VariantContextBuilder parent argument cannot be null in VariantContextBuilder"); - this.alleles = parent.alleles; - this.attributes = parent.getAttributes(); - this.attributesCanBeModified = false; - this.contig = parent.contig; - this.filters = parent.getFiltersMaybeNull(); - this.genotypes = parent.genotypes; - this.ID = parent.getID(); - this.log10PError = parent.getLog10PError(); - this.source = parent.getSource(); - this.start = parent.getStart(); - this.stop = parent.getEnd(); - this.fullyDecoded = parent.isFullyDecoded(); - } - - public VariantContextBuilder(VariantContextBuilder parent) { - if ( parent == null ) throw new IllegalArgumentException("BUG: VariantContext parent argument cannot be null in VariantContextBuilder"); - this.alleles = parent.alleles; - this.attributesCanBeModified = false; - this.contig = parent.contig; - this.genotypes = parent.genotypes; - this.ID = parent.ID; - this.log10PError = parent.log10PError; - this.source = parent.source; - this.start = parent.start; - this.stop = parent.stop; - this.fullyDecoded = parent.fullyDecoded; - - this.attributes(parent.attributes); - this.filters(parent.filters); - } - - public VariantContextBuilder copy() { - return new VariantContextBuilder(this); - } - - /** - * Tells this builder to use this collection of alleles for the resulting VariantContext - * - * @param alleles - * @return this builder - */ - @Requires({"alleles != null", "!alleles.isEmpty()"}) - public VariantContextBuilder alleles(final Collection alleles) { - this.alleles = alleles; - toValidate.add(VariantContext.Validation.ALLELES); - return this; - } - - public VariantContextBuilder alleles(final List alleleStrings) { - List alleles = new ArrayList(alleleStrings.size()); - - for ( int i = 0; i < alleleStrings.size(); i++ ) { - alleles.add(Allele.create(alleleStrings.get(i), i == 0)); - } - - return alleles(alleles); - } - - public VariantContextBuilder alleles(final String ... alleleStrings) { - return alleles(Arrays.asList(alleleStrings)); - } - - public List getAlleles() { - return new ArrayList(alleles); - } - - /** - * Tells this builder to use this map of attributes alleles for the resulting VariantContext - * - * Attributes can be null -> meaning there are no attributes. After - * calling this routine the builder assumes it can modify the attributes - * object here, if subsequent calls are made to set attribute values - * @param attributes - */ - public VariantContextBuilder attributes(final Map attributes) { - if (attributes != null) { - this.attributes = attributes; - } - else { - this.attributes = new HashMap(); - } - - this.attributesCanBeModified = true; - return this; - } - - /** - * Puts the key -> value mapping into this builder's attributes - * - * @param key - * @param value - * @return - */ - @Requires({"key != null"}) - @Ensures({"this.attributes.size() == old(this.attributes.size()) || this.attributes.size() == old(this.attributes.size()+1)"}) - public VariantContextBuilder attribute(final String key, final Object value) { - makeAttributesModifiable(); - attributes.put(key, value); - return this; - } - - /** - * Removes key if present in the attributes - * - * @param key - * @return - */ - @Requires({"key != null"}) - @Ensures({"this.attributes.size() == old(this.attributes.size()) || this.attributes.size() == old(this.attributes.size()-1)"}) - public VariantContextBuilder rmAttribute(final String key) { - makeAttributesModifiable(); - attributes.remove(key); - return this; - } - - /** - * Makes the attributes field modifiable. In many cases attributes is just a pointer to an immutable - * collection, so methods that want to add / remove records require the attributes to be copied to a - */ - @Ensures({"this.attributesCanBeModified"}) - private void makeAttributesModifiable() { - if ( ! attributesCanBeModified ) { - this.attributesCanBeModified = true; - this.attributes = new HashMap(attributes); - } - } - - /** - * This builder's filters are set to this value - * - * filters can be null -> meaning there are no filters - * @param filters - */ - public VariantContextBuilder filters(final Set filters) { - this.filters = filters; - return this; - } - - /** - * {@link #filters} - * - * @param filters - * @return - */ - public VariantContextBuilder filters(final String ... filters) { - filters(new LinkedHashSet(Arrays.asList(filters))); - return this; - } - - @Requires({"filter != null", "!filter.equals(\"PASS\")"}) - public VariantContextBuilder filter(final String filter) { - if ( this.filters == null ) this.filters = new LinkedHashSet(1); - this.filters.add(filter); - return this; - } - - /** - * Tells this builder that the resulting VariantContext should have PASS filters - * - * @return - */ - public VariantContextBuilder passFilters() { - return filters(VariantContext.PASSES_FILTERS); - } - - /** - * Tells this builder that the resulting VariantContext be unfiltered - * - * @return - */ - public VariantContextBuilder unfiltered() { - this.filters = null; - return this; - } - - /** - * Tells this builder that the resulting VariantContext should use this genotypes GenotypeContext - * - * Note that genotypes can be null -> meaning there are no genotypes - * - * @param genotypes - */ - public VariantContextBuilder genotypes(final GenotypesContext genotypes) { - this.genotypes = genotypes; - if ( genotypes != null ) - toValidate.add(VariantContext.Validation.GENOTYPES); - return this; - } - - public VariantContextBuilder genotypesNoValidation(final GenotypesContext genotypes) { - this.genotypes = genotypes; - return this; - } - - /** - * Tells this builder that the resulting VariantContext should use a GenotypeContext containing genotypes - * - * Note that genotypes can be null -> meaning there are no genotypes - * - * @param genotypes - */ - public VariantContextBuilder genotypes(final Collection genotypes) { - return genotypes(GenotypesContext.copy(genotypes)); - } - - /** - * Tells this builder that the resulting VariantContext should use a GenotypeContext containing genotypes - * @param genotypes - */ - public VariantContextBuilder genotypes(final Genotype ... genotypes) { - return genotypes(GenotypesContext.copy(Arrays.asList(genotypes))); - } - - /** - * Tells this builder that the resulting VariantContext should not contain any GenotypeContext - */ - public VariantContextBuilder noGenotypes() { - this.genotypes = null; - return this; - } - - /** - * Tells us that the resulting VariantContext should have ID - * @param ID - * @return - */ - @Requires("ID != null") - public VariantContextBuilder id(final String ID) { - this.ID = ID; - return this; - } - - /** - * Tells us that the resulting VariantContext should not have an ID - * @return - */ - public VariantContextBuilder noID() { - return id(VCFConstants.EMPTY_ID_FIELD); - } - - /** - * Tells us that the resulting VariantContext should have log10PError - * @param log10PError - * @return - */ - @Requires("log10PError <= 0 || log10PError == VariantContext.NO_LOG10_PERROR") - public VariantContextBuilder log10PError(final double log10PError) { - this.log10PError = log10PError; - return this; - } - - /** - * Tells us that the resulting VariantContext should have source field set to source - * @param source - * @return - */ - @Requires("source != null") - public VariantContextBuilder source(final String source) { - this.source = source; - return this; - } - - /** - * Tells us that the resulting VariantContext should have the specified location - * @param contig - * @param start - * @param stop - * @return - */ - @Requires({"contig != null", "start >= 0", "stop >= 0"}) - public VariantContextBuilder loc(final String contig, final long start, final long stop) { - this.contig = contig; - this.start = start; - this.stop = stop; - toValidate.add(VariantContext.Validation.ALLELES); - return this; - } - - /** - * Tells us that the resulting VariantContext should have the specified contig chr - * @param contig - * @return - */ - @Requires({"contig != null"}) - public VariantContextBuilder chr(final String contig) { - this.contig = contig; - return this; - } - - /** - * Tells us that the resulting VariantContext should have the specified contig start - * @param start - * @return - */ - @Requires({"start >= 0"}) - public VariantContextBuilder start(final long start) { - this.start = start; - toValidate.add(VariantContext.Validation.ALLELES); - return this; - } - - /** - * Tells us that the resulting VariantContext should have the specified contig stop - * @param stop - * @return - */ - @Requires({"stop >= 0"}) - public VariantContextBuilder stop(final long stop) { - this.stop = stop; - return this; - } - - /** - * @see #computeEndFromAlleles(java.util.List, int, int) with endForSymbolicAlleles == -1 - */ - public VariantContextBuilder computeEndFromAlleles(final List alleles, final int start) { - return computeEndFromAlleles(alleles, start, -1); - } - - /** - * Compute the end position for this VariantContext from the alleles themselves - * - * assigns this builder the stop position computed. - * - * @param alleles the list of alleles to consider. The reference allele must be the first one - * @param start the known start position of this event - * @param endForSymbolicAlleles the end position to use if any of the alleles is symbolic. Can be -1 - * if no is expected but will throw an error if one is found - * @return this builder - */ - @Requires({"! alleles.isEmpty()", "start > 0", "endForSymbolicAlleles == -1 || endForSymbolicAlleles > 0" }) - public VariantContextBuilder computeEndFromAlleles(final List alleles, final int start, final int endForSymbolicAlleles) { - stop(VariantContextUtils.computeEndFromAlleles(alleles, start, endForSymbolicAlleles)); - return this; - } - - /** - * @return true if this builder contains fully decoded data - * - * See VariantContext for more information - */ - public boolean isFullyDecoded() { - return fullyDecoded; - } - - /** - * Sets this builder's fully decoded state to true. - * - * A fully decoded builder indicates that all fields are represented by their - * proper java objects (e.g., Integer(10) not "10"). - * - * See VariantContext for more information - * - * @param isFullyDecoded - */ - public VariantContextBuilder fullyDecoded(boolean isFullyDecoded) { - this.fullyDecoded = isFullyDecoded; - return this; - } - - /** - * Takes all of the builder data provided up to this point, and instantiates - * a freshly allocated VariantContext with all of the builder data. This - * VariantContext is validated as appropriate and if not failing QC (and - * throwing an exception) is returned. - * - * Note that this function can be called multiple times to create multiple - * VariantContexts from the same builder. - */ - public VariantContext make() { - return new VariantContext(source, ID, contig, start, stop, alleles, - genotypes, log10PError, filters, attributes, - fullyDecoded, toValidate); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/VariantContextUtils.java b/public/java/src/org/broadinstitute/variant/variantcontext/VariantContextUtils.java deleted file mode 100644 index a5b7b6c04..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/VariantContextUtils.java +++ /dev/null @@ -1,374 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.apache.commons.jexl2.Expression; -import org.apache.commons.jexl2.JexlEngine; -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.*; - -import java.util.*; - -public class VariantContextUtils { - - private static Set MISSING_KEYS_WARNED_ABOUT = new HashSet(); - - final public static JexlEngine engine = new JexlEngine(); - private final static boolean ASSUME_MISSING_FIELDS_ARE_STRINGS = false; - - static { - engine.setSilent(false); // will throw errors now for selects that don't evaluate properly - engine.setLenient(false); - engine.setDebug(false); - } - - /** - * Update the attributes of the attributes map given the VariantContext to reflect the - * proper chromosome-based VCF tags - * - * @param vc the VariantContext - * @param attributes the attributes map to populate; must not be null; may contain old values - * @param removeStaleValues should we remove stale values from the mapping? - * @return the attributes map provided as input, returned for programming convenience - */ - public static Map calculateChromosomeCounts(VariantContext vc, Map attributes, boolean removeStaleValues) { - return calculateChromosomeCounts(vc, attributes, removeStaleValues, new HashSet(0)); - } - - /** - * Update the attributes of the attributes map given the VariantContext to reflect the - * proper chromosome-based VCF tags - * - * @param vc the VariantContext - * @param attributes the attributes map to populate; must not be null; may contain old values - * @param removeStaleValues should we remove stale values from the mapping? - * @param founderIds - Set of founders Ids to take into account. AF and FC will be calculated over the founders. - * If empty or null, counts are generated for all samples as unrelated individuals - * @return the attributes map provided as input, returned for programming convenience - */ - public static Map calculateChromosomeCounts(VariantContext vc, Map attributes, boolean removeStaleValues, final Set founderIds) { - final int AN = vc.getCalledChrCount(); - - // if everyone is a no-call, remove the old attributes if requested - if ( AN == 0 && removeStaleValues ) { - if ( attributes.containsKey(VCFConstants.ALLELE_COUNT_KEY) ) - attributes.remove(VCFConstants.ALLELE_COUNT_KEY); - if ( attributes.containsKey(VCFConstants.ALLELE_FREQUENCY_KEY) ) - attributes.remove(VCFConstants.ALLELE_FREQUENCY_KEY); - if ( attributes.containsKey(VCFConstants.ALLELE_NUMBER_KEY) ) - attributes.remove(VCFConstants.ALLELE_NUMBER_KEY); - return attributes; - } - - if ( vc.hasGenotypes() ) { - attributes.put(VCFConstants.ALLELE_NUMBER_KEY, AN); - - // if there are alternate alleles, record the relevant tags - if ( vc.getAlternateAlleles().size() > 0 ) { - ArrayList alleleFreqs = new ArrayList(); - ArrayList alleleCounts = new ArrayList(); - ArrayList foundersAlleleCounts = new ArrayList(); - double totalFoundersChromosomes = (double)vc.getCalledChrCount(founderIds); - int foundersAltChromosomes; - for ( Allele allele : vc.getAlternateAlleles() ) { - foundersAltChromosomes = vc.getCalledChrCount(allele,founderIds); - alleleCounts.add(vc.getCalledChrCount(allele)); - foundersAlleleCounts.add(foundersAltChromosomes); - if ( AN == 0 ) { - alleleFreqs.add(0.0); - } else { - final Double freq = (double)foundersAltChromosomes / totalFoundersChromosomes; - alleleFreqs.add(freq); - } - } - - attributes.put(VCFConstants.ALLELE_COUNT_KEY, alleleCounts.size() == 1 ? alleleCounts.get(0) : alleleCounts); - attributes.put(VCFConstants.ALLELE_FREQUENCY_KEY, alleleFreqs.size() == 1 ? alleleFreqs.get(0) : alleleFreqs); - } else { - // if there's no alt AC and AF shouldn't be present - attributes.remove(VCFConstants.ALLELE_COUNT_KEY); - attributes.remove(VCFConstants.ALLELE_FREQUENCY_KEY); - } - } - - return attributes; - } - - /** - * Update the attributes of the attributes map in the VariantContextBuilder to reflect the proper - * chromosome-based VCF tags based on the current VC produced by builder.make() - * - * @param builder the VariantContextBuilder we are updating - * @param removeStaleValues should we remove stale values from the mapping? - */ - public static void calculateChromosomeCounts(VariantContextBuilder builder, boolean removeStaleValues) { - VariantContext vc = builder.make(); - builder.attributes(calculateChromosomeCounts(vc, new HashMap(vc.getAttributes()), removeStaleValues, new HashSet(0))); - } - - /** - * Update the attributes of the attributes map in the VariantContextBuilder to reflect the proper - * chromosome-based VCF tags based on the current VC produced by builder.make() - * - * @param builder the VariantContextBuilder we are updating - * @param founderIds - Set of founders to take into account. AF and FC will be calculated over the founders only. - * If empty or null, counts are generated for all samples as unrelated individuals - * @param removeStaleValues should we remove stale values from the mapping? - */ - public static void calculateChromosomeCounts(VariantContextBuilder builder, boolean removeStaleValues, final Set founderIds) { - VariantContext vc = builder.make(); - builder.attributes(calculateChromosomeCounts(vc, new HashMap(vc.getAttributes()), removeStaleValues, founderIds)); - } - - public final static VCFCompoundHeaderLine getMetaDataForField(final VCFHeader header, final String field) { - VCFCompoundHeaderLine metaData = header.getFormatHeaderLine(field); - if ( metaData == null ) metaData = header.getInfoHeaderLine(field); - if ( metaData == null ) { - if ( ASSUME_MISSING_FIELDS_ARE_STRINGS ) { - if ( ! MISSING_KEYS_WARNED_ABOUT.contains(field) ) { - MISSING_KEYS_WARNED_ABOUT.add(field); - if ( GeneralUtils.DEBUG_MODE_ENABLED ) - System.err.println("Field " + field + " missing from VCF header, assuming it is an unbounded string type"); - } - return new VCFInfoHeaderLine(field, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Auto-generated string header for " + field); - } - else - throw new TribbleException("Fully decoding VariantContext requires header line for all fields, but none was found for " + field); - } - return metaData; - } - - /** - * A simple but common wrapper for matching VariantContext objects using JEXL expressions - */ - public static class JexlVCMatchExp { - public String name; - public Expression exp; - - /** - * Create a new matcher expression with name and JEXL expression exp - * @param name name - * @param exp expression - */ - public JexlVCMatchExp(String name, Expression exp) { - this.name = name; - this.exp = exp; - } - } - - /** - * Method for creating JexlVCMatchExp from input walker arguments names and exps. These two arrays contain - * the name associated with each JEXL expression. initializeMatchExps will parse each expression and return - * a list of JexlVCMatchExp, in order, that correspond to the names and exps. These are suitable input to - * match() below. - * - * @param names names - * @param exps expressions - * @return list of matches - */ - public static List initializeMatchExps(String[] names, String[] exps) { - if ( names == null || exps == null ) - throw new IllegalArgumentException("BUG: neither names nor exps can be null: names " + Arrays.toString(names) + " exps=" + Arrays.toString(exps) ); - - if ( names.length != exps.length ) - throw new IllegalArgumentException("Inconsistent number of provided filter names and expressions: names=" + Arrays.toString(names) + " exps=" + Arrays.toString(exps)); - - Map map = new HashMap(); - for ( int i = 0; i < names.length; i++ ) { map.put(names[i], exps[i]); } - - return VariantContextUtils.initializeMatchExps(map); - } - - public static List initializeMatchExps(ArrayList names, ArrayList exps) { - String[] nameArray = new String[names.size()]; - String[] expArray = new String[exps.size()]; - return initializeMatchExps(names.toArray(nameArray), exps.toArray(expArray)); - } - - - /** - * Method for creating JexlVCMatchExp from input walker arguments mapping from names to exps. These two arrays contain - * the name associated with each JEXL expression. initializeMatchExps will parse each expression and return - * a list of JexlVCMatchExp, in order, that correspond to the names and exps. These are suitable input to - * match() below. - * - * @param names_and_exps mapping of names to expressions - * @return list of matches - */ - public static List initializeMatchExps(Map names_and_exps) { - List exps = new ArrayList(); - - for ( Map.Entry elt : names_and_exps.entrySet() ) { - String name = elt.getKey(); - String expStr = elt.getValue(); - - if ( name == null || expStr == null ) throw new IllegalArgumentException("Cannot create null expressions : " + name + " " + expStr); - try { - Expression exp = engine.createExpression(expStr); - exps.add(new JexlVCMatchExp(name, exp)); - } catch (Exception e) { - throw new IllegalArgumentException("Argument " + name + "has a bad value. Invalid expression used (" + expStr + "). Please see the JEXL docs for correct syntax.") ; - } - } - - return exps; - } - - /** - * Returns true if exp match VC. See collection<> version for full docs. - * @param vc variant context - * @param exp expression - * @return true if there is a match - */ - public static boolean match(VariantContext vc, JexlVCMatchExp exp) { - return match(vc,Arrays.asList(exp)).get(exp); - } - - /** - * Matches each JexlVCMatchExp exp against the data contained in vc, and returns a map from these - * expressions to true (if they matched) or false (if they didn't). This the best way to apply JEXL - * expressions to VariantContext records. Use initializeMatchExps() to create the list of JexlVCMatchExp - * expressions. - * - * @param vc variant context - * @param exps expressions - * @return true if there is a match - */ - public static Map match(VariantContext vc, Collection exps) { - return new JEXLMap(exps,vc); - - } - - /** - * Returns true if exp match VC/g. See collection<> version for full docs. - * @param vc variant context - * @param g genotype - * @param exp expression - * @return true if there is a match - */ - public static boolean match(VariantContext vc, Genotype g, JexlVCMatchExp exp) { - return match(vc,g,Arrays.asList(exp)).get(exp); - } - - /** - * Matches each JexlVCMatchExp exp against the data contained in vc/g, and returns a map from these - * expressions to true (if they matched) or false (if they didn't). This the best way to apply JEXL - * expressions to VariantContext records/genotypes. Use initializeMatchExps() to create the list of JexlVCMatchExp - * expressions. - * - * @param vc variant context - * @param g genotype - * @param exps expressions - * @return true if there is a match - */ - public static Map match(VariantContext vc, Genotype g, Collection exps) { - return new JEXLMap(exps,vc,g); - } - - /** - * Returns a newly allocated VC that is the same as VC, but without genotypes - * @param vc variant context - * @return new VC without genotypes - */ - @Requires("vc != null") - @Ensures("result != null") - public static VariantContext sitesOnlyVariantContext(VariantContext vc) { - return new VariantContextBuilder(vc).noGenotypes().make(); - } - - /** - * Returns a newly allocated list of VC, where each VC is the same as the input VCs, but without genotypes - * @param vcs collection of VCs - * @return new VCs without genotypes - */ - @Requires("vcs != null") - @Ensures("result != null") - public static Collection sitesOnlyVariantContexts(Collection vcs) { - List r = new ArrayList(); - for ( VariantContext vc : vcs ) - r.add(sitesOnlyVariantContext(vc)); - return r; - } - - // TODO: remove that after testing -// static private void verifyUniqueSampleNames(Collection unsortedVCs) { -// Set names = new HashSet(); -// for ( VariantContext vc : unsortedVCs ) { -// for ( String name : vc.getSampleNames() ) { -// //System.out.printf("Checking %s %b%n", name, names.contains(name)); -// if ( names.contains(name) ) -// throw new IllegalStateException("REQUIRE_UNIQUE sample names is true but duplicate names were discovered " + name); -// } -// -// names.addAll(vc.getSampleNames()); -// } -// } - - - public static int getSize( VariantContext vc ) { - return vc.getEnd() - vc.getStart() + 1; - } - - public static final Set genotypeNames(final Collection genotypes) { - final Set names = new HashSet(genotypes.size()); - for ( final Genotype g : genotypes ) - names.add(g.getSampleName()); - return names; - } - - /** - * Compute the end position for this VariantContext from the alleles themselves - * - * In the trivial case this is a single BP event and end = start (open intervals) - * In general the end is start + ref length - 1, handling the case where ref length == 0 - * However, if alleles contains a symbolic allele then we use endForSymbolicAllele in all cases - * - * @param alleles the list of alleles to consider. The reference allele must be the first one - * @param start the known start position of this event - * @param endForSymbolicAlleles the end position to use if any of the alleles is symbolic. Can be -1 - * if no is expected but will throw an error if one is found - * @return this builder - */ - @Requires({"! alleles.isEmpty()", "start > 0", "endForSymbolicAlleles == -1 || endForSymbolicAlleles > 0" }) - public static int computeEndFromAlleles(final List alleles, final int start, final int endForSymbolicAlleles) { - final Allele ref = alleles.get(0); - - if ( ref.isNonReference() ) - throw new IllegalStateException("computeEndFromAlleles requires first allele to be reference"); - - if ( VariantContext.hasSymbolicAlleles(alleles) ) { - if ( endForSymbolicAlleles == -1 ) - throw new IllegalStateException("computeEndFromAlleles found a symbolic allele but endForSymbolicAlleles was provided"); - return endForSymbolicAlleles; - } else { - return start + Math.max(ref.length() - 1, 0); - } - } - -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/VariantJEXLContext.java b/public/java/src/org/broadinstitute/variant/variantcontext/VariantJEXLContext.java deleted file mode 100644 index efdd54b57..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/VariantJEXLContext.java +++ /dev/null @@ -1,326 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import org.apache.commons.jexl2.JexlContext; -import org.apache.commons.jexl2.MapContext; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.VCFConstants; - -import java.util.Collection; -import java.util.HashMap; -import java.util.Map; -import java.util.Set; - -/** - * - * @author aaron - * @author depristo - * - * Class VariantJEXLContext - * - * implements the JEXML context for VariantContext; this saves us from - * having to generate a JEXML context lookup map everytime we want to evaluate an expression. - * - * This is package protected, only classes in variantcontext should have access to it. - * - * // todo -- clean up to remove or better support genotype filtering - */ - -class VariantJEXLContext implements JexlContext { - // our stored variant context - private VariantContext vc; - - private interface AttributeGetter { - public Object get(VariantContext vc); - } - - private static Map x = new HashMap(); - - static { - x.put("vc", new AttributeGetter() { public Object get(VariantContext vc) { return vc; }}); - x.put("CHROM", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getChr(); }}); - x.put("POS", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getStart(); }}); - x.put("TYPE", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getType().toString(); }}); - x.put("QUAL", new AttributeGetter() { public Object get(VariantContext vc) { return -10 * vc.getLog10PError(); }}); - x.put("ALLELES", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getAlleles(); }}); - x.put("N_ALLELES", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getNAlleles(); }}); - x.put("FILTER", new AttributeGetter() { public Object get(VariantContext vc) { return vc.isFiltered() ? "1" : "0"; }}); - -// x.put("GT", new AttributeGetter() { public Object get(VariantContext vc) { return g.getGenotypeString(); }}); - x.put("homRefCount", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getHomRefCount(); }}); - x.put("hetCount", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getHetCount(); }}); - x.put("homVarCount", new AttributeGetter() { public Object get(VariantContext vc) { return vc.getHomVarCount(); }}); - } - - public VariantJEXLContext(VariantContext vc) { - this.vc = vc; - } - - public Object get(String name) { - Object result = null; - if ( x.containsKey(name) ) { // dynamic resolution of name -> value via map - result = x.get(name).get(vc); - } else if ( vc.hasAttribute(name)) { - result = vc.getAttribute(name); - } else if ( vc.getFilters().contains(name) ) { - result = "1"; - } - - //System.out.printf("dynamic lookup %s => %s%n", name, result); - - return result; - } - - public boolean has(String name) { - return get(name) != null; - } - - public void set(String name, Object value) { - throw new UnsupportedOperationException("remove() not supported on a VariantJEXLContext"); - } -} - - - - -/** - * this is an implementation of a Map of JexlVCMatchExp to true or false values. It lazy initializes each value - * as requested to save as much processing time as possible. - * - * Compatible with JEXL 1.1 (this code will be easier if we move to 2.0, all of the functionality can go into the - * JexlContext's get() - * - */ - -class JEXLMap implements Map { - // our variant context and/or Genotype - private final VariantContext vc; - private final Genotype g; - - // our context - private JexlContext jContext = null; - - // our mapping from JEXLVCMatchExp to Booleans, which will be set to NULL for previously uncached JexlVCMatchExp - private Map jexl; - - - public JEXLMap(Collection jexlCollection, VariantContext vc, Genotype g) { - this.vc = vc; - this.g = g; - initialize(jexlCollection); - } - - public JEXLMap(Collection jexlCollection, VariantContext vc) { - this(jexlCollection, vc, null); - } - - private void initialize(Collection jexlCollection) { - jexl = new HashMap(); - for (VariantContextUtils.JexlVCMatchExp exp: jexlCollection) { - jexl.put(exp, null); - } - } - - /** - * create the internal JexlContext, only when required. This code is where new JEXL context variables - * should get added. - * - */ - private void createContext() { - if ( g == null ) { - // todo -- remove dependancy on g to the entire system - jContext = new VariantJEXLContext(vc); - } else { - // - // this whole branch is here just to support G jexl operations - // - Map infoMap = new HashMap(); - - if ( vc != null ) { - // create a mapping of what we know about the variant context, its Chromosome, positions, etc. - infoMap.put("CHROM", vc.getChr()); - infoMap.put("POS", vc.getStart()); - infoMap.put("TYPE", vc.getType().toString()); - infoMap.put("QUAL", String.valueOf(vc.getPhredScaledQual())); - - // add alleles - infoMap.put("ALLELES", GeneralUtils.join(";", vc.getAlleles())); - infoMap.put("N_ALLELES", String.valueOf(vc.getNAlleles())); - - // add attributes - addAttributesToMap(infoMap, vc.getAttributes()); - - // add filter fields - infoMap.put("FILTER", vc.isFiltered() ? "1" : "0"); - for ( Object filterCode : vc.getFilters() ) { - infoMap.put(String.valueOf(filterCode), "1"); - } - - // add genotype-specific fields - // TODO -- implement me when we figure out a good way to represent this - // for ( Genotype g : vc.getGenotypes().values() ) { - // String prefix = g.getSampleName() + "."; - // addAttributesToMap(infoMap, g.getAttributes(), prefix); - // infoMap.put(prefix + "GT", g.getGenotypeString()); - // } - - // add specific genotype if one is provided - infoMap.put(VCFConstants.GENOTYPE_KEY, g.getGenotypeString()); - infoMap.put("isHomRef", g.isHomRef() ? "1" : "0"); - infoMap.put("isHet", g.isHet() ? "1" : "0"); - infoMap.put("isHomVar", g.isHomVar() ? "1" : "0"); - infoMap.put(VCFConstants.GENOTYPE_QUALITY_KEY, g.getGQ()); - if ( g.hasDP() ) - infoMap.put(VCFConstants.DEPTH_KEY, g.getDP()); - for ( Map.Entry e : g.getExtendedAttributes().entrySet() ) { - if ( e.getValue() != null && !e.getValue().equals(VCFConstants.MISSING_VALUE_v4) ) - infoMap.put(e.getKey(), e.getValue()); - } - } - - // create the internal context that we can evaluate expressions against - - jContext = new MapContext(infoMap); - } - } - - /** - * @return the size of the internal data structure - */ - public int size() { - return jexl.size(); - } - - /** - * @return true if we're empty - */ - public boolean isEmpty() { return this.jexl.isEmpty(); } - - /** - * do we contain the specified key - * @param o the key - * @return true if we have a value for that key - */ - public boolean containsKey(Object o) { return jexl.containsKey(o); } - - public Boolean get(Object o) { - // if we've already determined the value, return it - if (jexl.containsKey(o) && jexl.get(o) != null) return jexl.get(o); - - // try and cast the expression - VariantContextUtils.JexlVCMatchExp e = (VariantContextUtils.JexlVCMatchExp) o; - evaluateExpression(e); - return jexl.get(e); - } - - /** - * get the keyset of map - * @return a set of keys of type JexlVCMatchExp - */ - public Set keySet() { - return jexl.keySet(); - } - - /** - * get all the values of the map. This is an expensive call, since it evaluates all keys that haven't - * been evaluated yet. This is fine if you truely want all the keys, but if you only want a portion, or know - * the keys you want, you would be better off using get() to get them by name. - * @return a collection of boolean values, representing the results of all the variants evaluated - */ - public Collection values() { - // this is an expensive call - for (VariantContextUtils.JexlVCMatchExp exp : jexl.keySet()) - if (jexl.get(exp) == null) - evaluateExpression(exp); - return jexl.values(); - } - - /** - * evaulate a JexlVCMatchExp's expression, given the current context (and setup the context if it's null) - * @param exp the JexlVCMatchExp to evaluate - */ - private void evaluateExpression(VariantContextUtils.JexlVCMatchExp exp) { - // if the context is null, we need to create it to evaluate the JEXL expression - if (this.jContext == null) createContext(); - try { - final Boolean value = (Boolean) exp.exp.evaluate(jContext); - // treat errors as no match - jexl.put(exp, value == null ? false : value); - } catch (Exception e) { - // if exception happens because variable is undefined (i.e. field in expression is not present), evaluate to FALSE - // todo - might be safer if we explicitly checked for an exception type, but Apache's API doesn't seem to have that ability - if (e.getMessage().contains("undefined variable")) - jexl.put(exp,false); - else - throw new IllegalArgumentException(String.format("Invalid JEXL expression detected for %s with message %s", exp.name, e.getMessage())); - } - } - - /** - * helper function: adds the list of attributes to the information map we're building - * @param infoMap the map - * @param attributes the attributes - */ - private static void addAttributesToMap(Map infoMap, Map attributes ) { - for (Map.Entry e : attributes.entrySet()) { - infoMap.put(e.getKey(), String.valueOf(e.getValue())); - } - } - - public Boolean put(VariantContextUtils.JexlVCMatchExp jexlVCMatchExp, Boolean aBoolean) { - return jexl.put(jexlVCMatchExp,aBoolean); - } - - public void putAll(Map map) { - jexl.putAll(map); - } - - // ////////////////////////////////////////////////////////////////////////////////////// - // The Following are unsupported at the moment - // ////////////////////////////////////////////////////////////////////////////////////// - - // this doesn't make much sense to implement, boolean doesn't offer too much variety to deal - // with evaluating every key in the internal map. - public boolean containsValue(Object o) { - throw new UnsupportedOperationException("containsValue() not supported on a JEXLMap"); - } - - // this doesn't make much sense - public Boolean remove(Object o) { - throw new UnsupportedOperationException("remove() not supported on a JEXLMap"); - } - - - public Set> entrySet() { - throw new UnsupportedOperationException("clear() not supported on a JEXLMap"); - } - - // nope - public void clear() { - throw new UnsupportedOperationException("clear() not supported on a JEXLMap"); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2Encoder.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2Encoder.java deleted file mode 100644 index d2a3d5435..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2Encoder.java +++ /dev/null @@ -1,279 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broadinstitute.variant.bcf2.BCF2Type; -import org.broadinstitute.variant.bcf2.BCF2Utils; - -import java.io.ByteArrayOutputStream; -import java.io.IOException; -import java.util.*; - -/** - * See #BCFWriter for documentation on this classes role in encoding BCF2 files - * - * @author Mark DePristo - * @since 06/12 - */ -public final class BCF2Encoder { - // TODO -- increase default size? - public static final int WRITE_BUFFER_INITIAL_SIZE = 16384; - private ByteArrayOutputStream encodeStream = new ByteArrayOutputStream(WRITE_BUFFER_INITIAL_SIZE); - - // -------------------------------------------------------------------------------- - // - // Functions to return the data being encoded here - // - // -------------------------------------------------------------------------------- - - @Ensures("result != null") - public byte[] getRecordBytes() { - byte[] bytes = encodeStream.toByteArray(); - encodeStream.reset(); - return bytes; - } - - // -------------------------------------------------------------------------------- - // - // Writing typed values (have type byte) - // - // -------------------------------------------------------------------------------- - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTypedMissing(final BCF2Type type) throws IOException { - encodeType(0, type); - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTyped(final Object value, final BCF2Type type) throws IOException { - if ( value == null ) - encodeTypedMissing(type); - else { - switch ( type ) { - case INT8: - case INT16: - case INT32: encodeTypedInt((Integer)value, type); break; - case FLOAT: encodeTypedFloat((Double) value); break; - case CHAR: encodeTypedString((String) value); break; - default: throw new IllegalArgumentException("Illegal type encountered " + type); - } - } - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTypedInt(final int v) throws IOException { - final BCF2Type type = BCF2Utils.determineIntegerType(v); - encodeTypedInt(v, type); - } - - @Requires("type.isIntegerType()") - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTypedInt(final int v, final BCF2Type type) throws IOException { - encodeType(1, type); - encodeRawInt(v, type); - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTypedString(final String s) throws IOException { - encodeTypedString(s.getBytes()); - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTypedString(final byte[] s) throws IOException { - if ( s == null ) - encodeType(0, BCF2Type.CHAR); - else { - encodeType(s.length, BCF2Type.CHAR); - for ( int i = 0; i < s.length; i++ ) { - encodeRawChar(s[i]); - } - } - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTypedFloat(final double d) throws IOException { - encodeType(1, BCF2Type.FLOAT); - encodeRawFloat(d); - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeTyped(List v, final BCF2Type type) throws IOException { - if ( type == BCF2Type.CHAR && v.size() != 0 ) { - final String s = BCF2Utils.collapseStringList((List) v); - v = stringToBytes(s); - } - - encodeType(v.size(), type); - encodeRawValues(v, type); - } - - // -------------------------------------------------------------------------------- - // - // Writing raw values (don't have a type byte) - // - // -------------------------------------------------------------------------------- - - public final void encodeRawValues(final Collection v, final BCF2Type type) throws IOException { - for ( final T v1 : v ) { - encodeRawValue(v1, type); - } - } - - public final void encodeRawValue(final T value, final BCF2Type type) throws IOException { - try { - if ( value == type.getMissingJavaValue() ) - encodeRawMissingValue(type); - else { - switch (type) { - case INT8: - case INT16: - case INT32: encodeRawBytes((Integer) value, type); break; - case FLOAT: encodeRawFloat((Double) value); break; - case CHAR: encodeRawChar((Byte) value); break; - default: throw new IllegalArgumentException("Illegal type encountered " + type); - } - } - } catch ( ClassCastException e ) { - throw new ClassCastException("BUG: invalid type cast to " + type + " from " + value); - } - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeRawMissingValue(final BCF2Type type) throws IOException { - encodeRawBytes(type.getMissingBytes(), type); - } - - @Requires("size >= 0") - public final void encodeRawMissingValues(final int size, final BCF2Type type) throws IOException { - for ( int i = 0; i < size; i++ ) - encodeRawMissingValue(type); - } - - // -------------------------------------------------------------------------------- - // - // low-level encoders - // - // -------------------------------------------------------------------------------- - - public final void encodeRawChar(final byte c) throws IOException { - encodeStream.write(c); - } - - public final void encodeRawFloat(final double value) throws IOException { - encodeRawBytes(Float.floatToIntBits((float) value), BCF2Type.FLOAT); - } - - @Requires("size >= 0") - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeType(final int size, final BCF2Type type) throws IOException { - if ( size <= BCF2Utils.MAX_INLINE_ELEMENTS ) { - final int typeByte = BCF2Utils.encodeTypeDescriptor(size, type); - encodeStream.write(typeByte); - } else { - final int typeByte = BCF2Utils.encodeTypeDescriptor(BCF2Utils.OVERFLOW_ELEMENT_MARKER, type); - encodeStream.write(typeByte); - // write in the overflow size - encodeTypedInt(size); - } - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeRawInt(final int value, final BCF2Type type) throws IOException { - type.write(value, encodeStream); - } - - @Ensures("encodeStream.size() > old(encodeStream.size())") - public final void encodeRawBytes(final int value, final BCF2Type type) throws IOException { - type.write(value, encodeStream); - } - - // -------------------------------------------------------------------------------- - // - // utility functions - // - // -------------------------------------------------------------------------------- - - @Requires({"s != null", "sizeToWrite >= 0"}) - public void encodeRawString(final String s, final int sizeToWrite) throws IOException { - final byte[] bytes = s.getBytes(); - for ( int i = 0; i < sizeToWrite; i++ ) - if ( i < bytes.length ) - encodeRawChar(bytes[i]); - else - encodeRawMissingValue(BCF2Type.CHAR); - } - - /** - * Totally generic encoder that examines o, determines the best way to encode it, and encodes it - * - * This method is incredibly slow, but it's only used for UnitTests so it doesn't matter - * - * @param o - * @return - */ - @Requires("o != null") - public final BCF2Type encode(final Object o) throws IOException { - if ( o == null ) throw new IllegalArgumentException("Generic encode cannot deal with null values"); - - if ( o instanceof List ) { - final BCF2Type type = determineBCFType(((List) o).get(0)); - encodeTyped((List) o, type); - return type; - } else { - final BCF2Type type = determineBCFType(o); - encodeTyped(o, type); - return type; - } - } - - @Requires("arg != null") - private final BCF2Type determineBCFType(final Object arg) { - final Object toType = arg instanceof List ? ((List)arg).get(0) : arg; - - if ( toType instanceof Integer ) - return BCF2Utils.determineIntegerType((Integer) toType); - else if ( toType instanceof String ) - return BCF2Type.CHAR; - else if ( toType instanceof Double ) - return BCF2Type.FLOAT; - else - throw new IllegalArgumentException("No native encoding for Object of type " + arg.getClass().getSimpleName()); - } - - private final List stringToBytes(final String v) throws IOException { - if ( v == null || v.equals("") ) - return Collections.emptyList(); - else { - // TODO -- this needs to be optimized away for efficiency - final byte[] bytes = v.getBytes(); - final List l = new ArrayList(bytes.length); - for ( int i = 0; i < bytes.length; i++) l.add(bytes[i]); - return l; - } - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldEncoder.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldEncoder.java deleted file mode 100644 index a04a6bf37..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldEncoder.java +++ /dev/null @@ -1,518 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Invariant; -import com.google.java.contract.Requires; -import org.broadinstitute.variant.bcf2.BCF2Type; -import org.broadinstitute.variant.bcf2.BCF2Utils; -import org.broadinstitute.variant.vcf.VCFCompoundHeaderLine; -import org.broadinstitute.variant.vcf.VCFHeaderLineCount; -import org.broadinstitute.variant.variantcontext.VariantContext; - -import java.io.IOException; -import java.util.Collections; -import java.util.List; -import java.util.Map; - -/** - * See #BCFWriter for documentation on this classes role in encoding BCF2 files - * - * @author Mark DePristo - * @since 06/12 - */ -@Invariant({ - "headerLine != null", - "dictionaryOffsetType.isIntegerType()", - "dictionaryOffset >= 0" -}) -public abstract class BCF2FieldEncoder { - /** - * The header line describing the field we will encode values of - */ - final VCFCompoundHeaderLine headerLine; - - /** - * The BCF2 type we'll use to encoder this field, if it can be determined statically. - * If not, this variable must be null - */ - final BCF2Type staticType; - - /** - * The integer offset into the strings map of the BCF2 file corresponding to this - * field. - */ - final int dictionaryOffset; - - /** - * The integer type we use to encode our dictionary offset in the BCF2 file - */ - final BCF2Type dictionaryOffsetType; - - // ---------------------------------------------------------------------- - // - // Constructor - // - // ---------------------------------------------------------------------- - - @Requires({"headerLine != null", "dict != null"}) - private BCF2FieldEncoder(final VCFCompoundHeaderLine headerLine, final Map dict, final BCF2Type staticType) { - this.headerLine = headerLine; - this.staticType = staticType; - - final Integer offset = dict.get(getField()); - if ( offset == null ) throw new IllegalStateException("Format error: could not find string " + getField() + " in header as required by BCF"); - this.dictionaryOffset = offset; - dictionaryOffsetType = BCF2Utils.determineIntegerType(offset); - } - - // ---------------------------------------------------------------------- - // - // Basic accessors - // - // ---------------------------------------------------------------------- - - @Ensures("result != null") - public final String getField() { return headerLine.getID(); } - - /** - * Write the field key (dictionary offset and type) into the BCF2Encoder stream - * - * @param encoder where we write our dictionary offset - * @throws IOException - */ - @Requires("encoder != null") - public final void writeFieldKey(final BCF2Encoder encoder) throws IOException { - encoder.encodeTypedInt(dictionaryOffset, dictionaryOffsetType); - } - - @Override - public String toString() { - return "BCF2FieldEncoder for " + getField() + " with count " + getCountType() + " encoded with " + getClass().getSimpleName(); - } - - // ---------------------------------------------------------------------- - // - // methods to determine the number of encoded elements - // - // ---------------------------------------------------------------------- - - @Ensures("result != null") - protected final VCFHeaderLineCount getCountType() { - return headerLine.getCountType(); - } - - /** - * True if this field has a constant, fixed number of elements (such as 1 for an atomic integer) - * - * @return - */ - @Ensures("result != (hasValueDeterminedNumElements() || hasContextDeterminedNumElements())") - public boolean hasConstantNumElements() { - return getCountType() == VCFHeaderLineCount.INTEGER; - } - - /** - * True if the only way to determine how many elements this field contains is by - * inspecting the actual value directly, such as when the number of elements - * is a variable length list per site or per genotype. - * @return - */ - @Ensures("result != (hasConstantNumElements() || hasContextDeterminedNumElements())") - public boolean hasValueDeterminedNumElements() { - return getCountType() == VCFHeaderLineCount.UNBOUNDED; - } - - /** - * True if this field has a non-fixed number of elements that depends only on the properties - * of the current VariantContext, such as one value per Allele or per genotype configuration. - * - * @return - */ - @Ensures("result != (hasValueDeterminedNumElements() || hasConstantNumElements())") - public boolean hasContextDeterminedNumElements() { - return ! hasConstantNumElements() && ! hasValueDeterminedNumElements(); - } - - /** - * Get the number of elements, assuming this field has a constant number of elements. - * @return - */ - @Requires("hasConstantNumElements()") - @Ensures("result >= 0") - public int numElements() { - return headerLine.getCount(); - } - - /** - * Get the number of elements by looking at the actual value provided - * @return - */ - @Requires("hasValueDeterminedNumElements()") - @Ensures("result >= 0") - public int numElements(final Object value) { - return numElementsFromValue(value); - } - - /** - * Get the number of elements, assuming this field has context-determined number of elements. - * @return - */ - @Requires("hasContextDeterminedNumElements()") - @Ensures("result >= 0") - public int numElements(final VariantContext vc) { - return headerLine.getCount(vc); - } - - /** - * A convenience access for the number of elements, returning - * the number of encoded elements, either from the fixed number - * it has, from the VC, or from the value itself. - * @param vc - * @param value - * @return - */ - @Ensures("result >= 0") - public final int numElements(final VariantContext vc, final Object value) { - if ( hasConstantNumElements() ) return numElements(); - else if ( hasContextDeterminedNumElements() ) return numElements(vc); - else return numElements(value); - } - - /** - * Given a value, return the number of elements we will encode for it. - * - * Assumes the value is encoded as a List - * - * @param value - * @return - */ - @Requires("hasValueDeterminedNumElements()") - @Ensures("result >= 0") - protected int numElementsFromValue(final Object value) { - if ( value == null ) return 0; - else if ( value instanceof List ) return ((List) value).size(); - else return 1; - } - - // ---------------------------------------------------------------------- - // - // methods to determine the BCF2 type of the encoded values - // - // ---------------------------------------------------------------------- - - /** - * Is the BCF2 type of this field static, or does it have to be determine from - * the actual field value itself? - * @return - */ - @Ensures("result || isDynamicallyTyped()") - public final boolean isStaticallyTyped() { return ! isDynamicallyTyped(); } - - /** - * Is the BCF2 type of this field static, or does it have to be determine from - * the actual field value itself? - * @return - */ - @Ensures("result || isStaticallyTyped()") - public final boolean isDynamicallyTyped() { return staticType == null; } - - /** - * Get the BCF2 type for this field, either from the static type of the - * field itself or by inspecting the value itself. - * - * @return - */ - public final BCF2Type getType(final Object value) { - return isDynamicallyTyped() ? getDynamicType(value) : getStaticType(); - } - - @Requires("isStaticallyTyped()") - @Ensures("result != null") - public final BCF2Type getStaticType() { - return staticType; - } - - @Requires("isDynamicallyTyped()") - @Ensures("result != null") - public BCF2Type getDynamicType(final Object value) { - throw new IllegalStateException("BUG: cannot get dynamic type for statically typed BCF2 field " + getField()); - } - - // ---------------------------------------------------------------------- - // - // methods to encode values, including the key abstract method - // - // ---------------------------------------------------------------------- - - /** - * Key abstract method that should encode a value of the given type into the encoder. - * - * Value will be of a type appropriate to the underlying encoder. If the genotype field is represented as - * an int[], this will be value, and the encoder needs to handle encoding all of the values in the int[]. - * - * The argument should be used, not the getType() method in the superclass as an outer loop might have - * decided a more general type (int16) to use, even through this encoder could have been done with int8. - * - * If minValues > 0, then encodeValue must write in at least minValues items from value. If value is atomic, - * this means that minValues - 1 MISSING values should be added to the encoder. If minValues is a collection - * type (int[]) then minValues - values.length should be added. This argument is intended to handle padding - * of values in genotype fields. - * - * @param encoder - * @param value - * @param type - * @param minValues - * @throws IOException - */ - @Requires({"encoder != null", "isDynamicallyTyped() || type == getStaticType()", "minValues >= 0"}) - public abstract void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException; - - // ---------------------------------------------------------------------- - // - // Subclass to encode Strings - // - // ---------------------------------------------------------------------- - - public static class StringOrCharacter extends BCF2FieldEncoder { - public StringOrCharacter(final VCFCompoundHeaderLine headerLine, final Map dict ) { - super(headerLine, dict, BCF2Type.CHAR); - } - - @Override - public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { - final String s = javaStringToBCF2String(value); - encoder.encodeRawString(s, Math.max(s.length(), minValues)); - } - - // - // Regardless of what the header says, BCF2 strings and characters are always encoded - // as arrays of CHAR type, which has a variable number of elements depending on the - // exact string being encoded - // - @Override public boolean hasConstantNumElements() { return false; } - @Override public boolean hasContextDeterminedNumElements() { return false; } - @Override public boolean hasValueDeterminedNumElements() { return true; } - @Override protected int numElementsFromValue(final Object value) { - return value == null ? 0 : javaStringToBCF2String(value).length(); - } - - /** - * Recode the incoming object to a String, compacting it into a - * BCF2 string if the value is a list. - * - * @param value a String or List to encode, or null - * @return a non-null string to encode - */ - @Ensures("result != null") - private String javaStringToBCF2String(final Object value) { - if ( value == null ) - return ""; - else if (value instanceof List) { - final List l = (List)value; - if ( l.isEmpty() ) return ""; - else return BCF2Utils.collapseStringList(l); - } else - return (String)value; - } - } - - // ---------------------------------------------------------------------- - // - // Subclass to encode FLAG - // - // ---------------------------------------------------------------------- - - public static class Flag extends BCF2FieldEncoder { - public Flag(final VCFCompoundHeaderLine headerLine, final Map dict ) { - super(headerLine, dict, BCF2Type.INT8); - if ( ! headerLine.isFixedCount() || headerLine.getCount() != 0 ) - throw new IllegalStateException("Flag encoder only supports atomic flags for field " + getField()); - } - - @Override - public int numElements() { - return 1; // the header says 0 but we will write 1 value - } - - @Override - @Requires({"minValues <= 1", "value != null", "value instanceof Boolean", "((Boolean)value) == true"}) - public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { - encoder.encodeRawBytes(1, getStaticType()); - } - } - - // ---------------------------------------------------------------------- - // - // Subclass to encode FLOAT - // - // ---------------------------------------------------------------------- - - public static class Float extends BCF2FieldEncoder { - final boolean isAtomic; - - public Float(final VCFCompoundHeaderLine headerLine, final Map dict ) { - super(headerLine, dict, BCF2Type.FLOAT); - isAtomic = hasConstantNumElements() && numElements() == 1; - } - - @Override - public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { - int count = 0; - // TODO -- can be restructured to avoid toList operation - if ( isAtomic ) { - // fast path for fields with 1 fixed float value - if ( value != null ) { - encoder.encodeRawFloat((Double)value); - count++; - } - } else { - // handle generic case - final List doubles = toList(Double.class, value); - for ( final Double d : doubles ) { - if ( d != null ) { // necessary because .,. => [null, null] in VC - encoder.encodeRawFloat(d); - count++; - } - } - } - for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); - } - } - - // ---------------------------------------------------------------------- - // - // Subclass to encode int[] - // - // ---------------------------------------------------------------------- - - public static class IntArray extends BCF2FieldEncoder { - public IntArray(final VCFCompoundHeaderLine headerLine, final Map dict ) { - super(headerLine, dict, null); - } - - @Override - protected int numElementsFromValue(final Object value) { - return value == null ? 0 : ((int[])value).length; - } - - @Override - public BCF2Type getDynamicType(final Object value) { - return value == null ? BCF2Type.INT8 : BCF2Utils.determineIntegerType((int[])value); - } - - @Requires("value == null || ((int[])value).length <= minValues") - @Override - public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { - int count = 0; - if ( value != null ) { - for ( final int i : (int[])value ) { - encoder.encodeRawInt(i, type); - count++; - } - } - for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); - } - } - - // ---------------------------------------------------------------------- - // - // Subclass to encode List - // - // ---------------------------------------------------------------------- - - /** - * Specialized int encoder for atomic (non-list) integers - */ - public static class AtomicInt extends BCF2FieldEncoder { - public AtomicInt(final VCFCompoundHeaderLine headerLine, final Map dict ) { - super(headerLine, dict, null); - } - - @Override - public BCF2Type getDynamicType(final Object value) { - return value == null ? BCF2Type.INT8 : BCF2Utils.determineIntegerType((Integer)value); - } - - @Override - public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { - int count = 0; - if ( value != null ) { - encoder.encodeRawInt((Integer)value, type); - count++; - } - for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); - } - } - - public static class GenericInts extends BCF2FieldEncoder { - public GenericInts(final VCFCompoundHeaderLine headerLine, final Map dict ) { - super(headerLine, dict, null); - } - - @Override - public BCF2Type getDynamicType(final Object value) { - return value == null ? BCF2Type.INT8 : BCF2Utils.determineIntegerType(toList(Integer.class, value)); - } - - @Override - public void encodeValue(final BCF2Encoder encoder, final Object value, final BCF2Type type, final int minValues) throws IOException { - int count = 0; - for ( final Integer i : toList(Integer.class, value) ) { - if ( i != null ) { // necessary because .,. => [null, null] in VC - encoder.encodeRawInt(i, type); - count++; - } - } - for ( ; count < minValues; count++ ) encoder.encodeRawMissingValue(type); - } - } - - - // ---------------------------------------------------------------------- - // - // Helper methods - // - // ---------------------------------------------------------------------- - - /** - * Helper function that takes an object and returns a list representation - * of it: - * - * o == null => [] - * o is a list => o - * else => [o] - * - * @param o - * @return - */ - private final static List toList(final Class c, final Object o) { - if ( o == null ) return Collections.emptyList(); - else if ( o instanceof List ) return (List)o; - else return Collections.singletonList((T)o); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldWriter.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldWriter.java deleted file mode 100644 index 9667d1889..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldWriter.java +++ /dev/null @@ -1,337 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broadinstitute.variant.bcf2.BCF2Type; -import org.broadinstitute.variant.bcf2.BCF2Utils; -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.Allele; -import org.broadinstitute.variant.variantcontext.Genotype; -import org.broadinstitute.variant.variantcontext.VariantContext; - -import java.io.IOException; -import java.util.ArrayList; -import java.util.HashMap; -import java.util.List; -import java.util.Map; - -/** - * See #BCFWriter for documentation on this classes role in encoding BCF2 files - * - * @author Mark DePristo - * @since 06/12 - */ -public abstract class BCF2FieldWriter { - private final VCFHeader header; - private final BCF2FieldEncoder fieldEncoder; - - @Requires({"header != null", "fieldEncoder != null"}) - protected BCF2FieldWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - this.header = header; - this.fieldEncoder = fieldEncoder; - } - - @Ensures("result != null") - protected VCFHeader getHeader() { return header; } - @Ensures("result != null") - protected BCF2FieldEncoder getFieldEncoder() { - return fieldEncoder; - } - @Ensures("result != null") - protected String getField() { return getFieldEncoder().getField(); } - - @Requires("vc != null") - public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { - fieldEncoder.writeFieldKey(encoder); - } - - public void done(final BCF2Encoder encoder, final VariantContext vc) throws IOException { } // TODO -- overload done so that we null out values and test for correctness - - @Override - public String toString() { - return "BCF2FieldWriter " + getClass().getSimpleName() + " with encoder " + getFieldEncoder(); - } - - // -------------------------------------------------------------------------------- - // - // Sites writers - // - // -------------------------------------------------------------------------------- - - public static abstract class SiteWriter extends BCF2FieldWriter { - protected SiteWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - } - - public abstract void site(final BCF2Encoder encoder, final VariantContext vc) throws IOException; - } - - public static class GenericSiteWriter extends SiteWriter { - public GenericSiteWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - } - - @Override - public void site(final BCF2Encoder encoder, final VariantContext vc) throws IOException { - final Object rawValue = vc.getAttribute(getField(), null); - final BCF2Type type = getFieldEncoder().getType(rawValue); - if ( rawValue == null ) { - // the value is missing, just write in null - encoder.encodeType(0, type); - } else { - final int valueCount = getFieldEncoder().numElements(vc, rawValue); - encoder.encodeType(valueCount, type); - getFieldEncoder().encodeValue(encoder, rawValue, type, valueCount); - } - } - } - - // -------------------------------------------------------------------------------- - // - // Genotypes writers - // - // -------------------------------------------------------------------------------- - - public static abstract class GenotypesWriter extends BCF2FieldWriter { - int nValuesPerGenotype = -1; - BCF2Type encodingType = null; - - protected GenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - - if ( fieldEncoder.hasConstantNumElements() ) { - nValuesPerGenotype = getFieldEncoder().numElements(); - } - } - - @Override - @Requires({"encodingType != null", - "nValuesPerGenotype >= 0 || ! getFieldEncoder().hasConstantNumElements()"}) - @Ensures("nValuesPerGenotype >= 0") - public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { - // writes the key information - super.start(encoder, vc); - - // only update if we need to - if ( ! getFieldEncoder().hasConstantNumElements() ) { - if ( getFieldEncoder().hasContextDeterminedNumElements() ) - // we are cheap -- just depends on genotype of allele counts - nValuesPerGenotype = getFieldEncoder().numElements(vc); - else - // we have to go fishing through the values themselves (expensive) - nValuesPerGenotype = computeMaxSizeOfGenotypeFieldFromValues(vc); - } - - encoder.encodeType(nValuesPerGenotype, encodingType); - } - - @Requires({"encodingType != null", "nValuesPerGenotype >= 0"}) - public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { - final Object fieldValue = g.getExtendedAttribute(getField(), null); - getFieldEncoder().encodeValue(encoder, fieldValue, encodingType, nValuesPerGenotype); - } - - @Ensures({"result >= 0"}) - protected int numElements(final VariantContext vc, final Genotype g) { - return getFieldEncoder().numElements(vc, g.getExtendedAttribute(getField())); - } - - @Ensures({"result >= 0"}) - private final int computeMaxSizeOfGenotypeFieldFromValues(final VariantContext vc) { - int size = -1; - - for ( final Genotype g : vc.getGenotypes() ) { - size = Math.max(size, numElements(vc, g)); - } - - return size; - } - } - - public static class StaticallyTypeGenotypesWriter extends GenotypesWriter { - public StaticallyTypeGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - encodingType = getFieldEncoder().getStaticType(); - } - } - - public static class IntegerTypeGenotypesWriter extends GenotypesWriter { - public IntegerTypeGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - } - - @Override - public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { - // the only value that is dynamic are integers - final List values = new ArrayList(vc.getNSamples()); - for ( final Genotype g : vc.getGenotypes() ) { - for ( final Object i : BCF2Utils.toList(g.getExtendedAttribute(getField(), null)) ) { - if ( i != null ) values.add((Integer)i); // we know they are all integers - } - } - - encodingType = BCF2Utils.determineIntegerType(values); - super.start(encoder, vc); - } - } - - public static class IGFGenotypesWriter extends GenotypesWriter { - final IntGenotypeFieldAccessors.Accessor ige; - - public IGFGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder, final IntGenotypeFieldAccessors.Accessor ige) { - super(header, fieldEncoder); - this.ige = ige; - - if ( ! (fieldEncoder instanceof BCF2FieldEncoder.IntArray) ) - throw new IllegalArgumentException("BUG: IntGenotypesWriter requires IntArray encoder for field " + getField()); - } - - @Override - public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { - // TODO - // TODO this piece of code consumes like 10% of the runtime alone because fo the vc.getGenotypes() iteration - // TODO - encodingType = BCF2Type.INT8; - for ( final Genotype g : vc.getGenotypes() ) { - final int[] pls = ige.getValues(g); - final BCF2Type plsType = getFieldEncoder().getType(pls); - encodingType = BCF2Utils.maxIntegerType(encodingType, plsType); - if ( encodingType == BCF2Type.INT32 ) - break; // stop early - } - - super.start(encoder, vc); - } - - @Override - public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { - getFieldEncoder().encodeValue(encoder, ige.getValues(g), encodingType, nValuesPerGenotype); - } - - @Override - protected int numElements(final VariantContext vc, final Genotype g) { - return ige.getSize(g); - } - } - - public static class FTGenotypesWriter extends StaticallyTypeGenotypesWriter { - public FTGenotypesWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - } - - public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { - final String fieldValue = g.getFilters(); - getFieldEncoder().encodeValue(encoder, fieldValue, encodingType, nValuesPerGenotype); - } - - @Override - protected int numElements(final VariantContext vc, final Genotype g) { - return getFieldEncoder().numElements(vc, g.getFilters()); - } - } - - public static class GTWriter extends GenotypesWriter { - final Map alleleMapForTriPlus = new HashMap(5); - Allele ref, alt1; - - public GTWriter(final VCFHeader header, final BCF2FieldEncoder fieldEncoder) { - super(header, fieldEncoder); - } - - @Override - public void start(final BCF2Encoder encoder, final VariantContext vc) throws IOException { - if ( vc.getNAlleles() > BCF2Utils.MAX_ALLELES_IN_GENOTYPES ) - throw new IllegalStateException("Current BCF2 encoder cannot handle sites " + - "with > " + BCF2Utils.MAX_ALLELES_IN_GENOTYPES + " alleles, but you have " - + vc.getNAlleles() + " at " + vc.getChr() + ":" + vc.getStart()); - - encodingType = BCF2Type.INT8; - buildAlleleMap(vc); - nValuesPerGenotype = vc.getMaxPloidy(2); - - super.start(encoder, vc); - } - - @Override - public void addGenotype(final BCF2Encoder encoder, final VariantContext vc, final Genotype g) throws IOException { - final int samplePloidy = g.getPloidy(); - for ( int i = 0; i < nValuesPerGenotype; i++ ) { - if ( i < samplePloidy ) { - // we encode the actual allele - final Allele a = g.getAllele(i); - final int offset = getAlleleOffset(a); - final int encoded = ((offset+1) << 1) | (g.isPhased() ? 0x01 : 0x00); - encoder.encodeRawBytes(encoded, encodingType); - } else { - // we need to pad with missing as we have ploidy < max for this sample - encoder.encodeRawBytes(encodingType.getMissingBytes(), encodingType); - } - } - } - - /** - * Fast path code to determine the offset. - * - * Inline tests for == against ref (most common, first test) - * == alt1 (second most common, second test) - * == NO_CALL (third) - * and finally in the map from allele => offset for all alt 2+ alleles - * - * @param a the allele whose offset we wish to determine - * @return the offset (from 0) of the allele in the list of variant context alleles (-1 means NO_CALL) - */ - @Requires("a != null") - private final int getAlleleOffset(final Allele a) { - if ( a == ref ) return 0; - else if ( a == alt1 ) return 1; - else if ( a == Allele.NO_CALL ) return -1; - else { - final Integer o = alleleMapForTriPlus.get(a); - if ( o == null ) throw new IllegalStateException("BUG: Couldn't find allele offset for allele " + a); - return o; - } - } - - private final void buildAlleleMap(final VariantContext vc) { - // these are fast path options to determine the offsets for - final int nAlleles = vc.getNAlleles(); - ref = vc.getReference(); - alt1 = nAlleles > 1 ? vc.getAlternateAllele(0) : null; - - if ( nAlleles > 2 ) { - // for multi-allelics we need to clear the map, and add additional looks - alleleMapForTriPlus.clear(); - final List alleles = vc.getAlleles(); - for ( int i = 2; i < alleles.size(); i++ ) { - alleleMapForTriPlus.put(alleles.get(i), i); - } - } - } - } -} - diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldWriterManager.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldWriterManager.java deleted file mode 100644 index a3cbc5bf3..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2FieldWriterManager.java +++ /dev/null @@ -1,180 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.*; - -import java.util.HashMap; -import java.util.Map; - -/** - * See #BCFWriter for documentation on this classes role in encoding BCF2 files - * - * @author Mark DePristo - * @since 06/12 - */ -public class BCF2FieldWriterManager { - final Map siteWriters = new HashMap(); - final Map genotypesWriters = new HashMap(); - final IntGenotypeFieldAccessors intGenotypeFieldAccessors = new IntGenotypeFieldAccessors(); - - public BCF2FieldWriterManager() { } - - /** - * Setup the FieldWriters appropriate to each INFO and FORMAT in the VCF header - * - * Must be called before any of the getter methods will work - * - * @param header a VCFHeader containing description for every INFO and FORMAT field we'll attempt to write out to BCF - * @param encoder the encoder we are going to use to write out the BCF2 data - * @param stringDictionary a map from VCFHeader strings to their offsets for encoding - */ - public void setup(final VCFHeader header, final BCF2Encoder encoder, final Map stringDictionary) { - for (final VCFInfoHeaderLine line : header.getInfoHeaderLines()) { - final String field = line.getID(); - final BCF2FieldWriter.SiteWriter writer = createInfoWriter(header, line, encoder, stringDictionary); - add(siteWriters, field, writer); - } - - for (final VCFFormatHeaderLine line : header.getFormatHeaderLines()) { - final String field = line.getID(); - final BCF2FieldWriter.GenotypesWriter writer = createGenotypesWriter(header, line, encoder, stringDictionary); - add(genotypesWriters, field, writer); - } - } - - @Requires({"field != null", "writer != null"}) - @Ensures("map.containsKey(field)") - private final void add(final Map map, final String field, final T writer) { - if ( map.containsKey(field) ) - throw new IllegalStateException("BUG: field " + field + " already seen in VCFHeader while building BCF2 field encoders"); - map.put(field, writer); - } - - // ----------------------------------------------------------------- - // - // Master routine to look at the header, a specific line, and - // build an appropriate SiteWriter for that header element - // - // ----------------------------------------------------------------- - - private BCF2FieldWriter.SiteWriter createInfoWriter(final VCFHeader header, - final VCFInfoHeaderLine line, - final BCF2Encoder encoder, - final Map dict) { - return new BCF2FieldWriter.GenericSiteWriter(header, createFieldEncoder(line, encoder, dict, false)); - } - - private BCF2FieldEncoder createFieldEncoder(final VCFCompoundHeaderLine line, - final BCF2Encoder encoder, - final Map dict, - final boolean createGenotypesEncoders ) { - - if ( createGenotypesEncoders && intGenotypeFieldAccessors.getAccessor(line.getID()) != null ) { - if ( GeneralUtils.DEBUG_MODE_ENABLED && line.getType() != VCFHeaderLineType.Integer ) - System.err.println("Warning: field " + line.getID() + " expected to encode an integer but saw " + line.getType() + " for record " + line); - return new BCF2FieldEncoder.IntArray(line, dict); - } else if ( createGenotypesEncoders && line.getID().equals(VCFConstants.GENOTYPE_KEY) ) { - return new BCF2FieldEncoder.GenericInts(line, dict); - } else { - switch ( line.getType() ) { - case Character: - case String: - return new BCF2FieldEncoder.StringOrCharacter(line, dict); - case Flag: - return new BCF2FieldEncoder.Flag(line, dict); - case Float: - return new BCF2FieldEncoder.Float(line, dict); - case Integer: - if ( line.isFixedCount() && line.getCount() == 1 ) - return new BCF2FieldEncoder.AtomicInt(line, dict); - else - return new BCF2FieldEncoder.GenericInts(line, dict); - default: - throw new IllegalArgumentException("Unexpected type for field " + line.getID()); - } - } - } - - // ----------------------------------------------------------------- - // - // Master routine to look at the header, a specific line, and - // build an appropriate Genotypes for that header element - // - // ----------------------------------------------------------------- - - private BCF2FieldWriter.GenotypesWriter createGenotypesWriter(final VCFHeader header, - final VCFFormatHeaderLine line, - final BCF2Encoder encoder, - final Map dict) { - final String field = line.getID(); - final BCF2FieldEncoder fieldEncoder = createFieldEncoder(line, encoder, dict, true); - - if ( field.equals(VCFConstants.GENOTYPE_KEY) ) { - return new BCF2FieldWriter.GTWriter(header, fieldEncoder); - } else if ( line.getID().equals(VCFConstants.GENOTYPE_FILTER_KEY) ) { - return new BCF2FieldWriter.FTGenotypesWriter(header, fieldEncoder); - } else if ( intGenotypeFieldAccessors.getAccessor(field) != null ) { - return new BCF2FieldWriter.IGFGenotypesWriter(header, fieldEncoder, intGenotypeFieldAccessors.getAccessor(field)); - } else if ( line.getType() == VCFHeaderLineType.Integer ) { - return new BCF2FieldWriter.IntegerTypeGenotypesWriter(header, fieldEncoder); - } else { - return new BCF2FieldWriter.StaticallyTypeGenotypesWriter(header, fieldEncoder); - } - } - - // ----------------------------------------------------------------- - // - // Accessors to get site / genotype writers - // - // ----------------------------------------------------------------- - - /** - * Get a site writer specialized to encode values for site info field - * @param field key found in the VCF header INFO records - * @return non-null writer if one can be found, or null if none exists for field - */ - public BCF2FieldWriter.SiteWriter getSiteFieldWriter(final String field) { - return getWriter(field, siteWriters); - } - - /** - * Get a genotypes writer specialized to encode values for genotypes field - * @param field key found in the VCF header FORMAT records - * @return non-null writer if one can be found, or null if none exists for field - */ - public BCF2FieldWriter.GenotypesWriter getGenotypeFieldWriter(final String field) { - return getWriter(field, genotypesWriters); - } - - @Requires({"map != null", "key != null"}) - public T getWriter(final String key, final Map map) { - return map.get(key); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2Writer.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2Writer.java deleted file mode 100644 index c24ffec48..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/BCF2Writer.java +++ /dev/null @@ -1,425 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import net.sf.samtools.SAMSequenceDictionary; -import org.broadinstitute.variant.bcf2.BCF2Codec; -import org.broadinstitute.variant.bcf2.BCF2Type; -import org.broadinstitute.variant.bcf2.BCF2Utils; -import org.broadinstitute.variant.bcf2.BCFVersion; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.VCFConstants; -import org.broadinstitute.variant.vcf.VCFContigHeaderLine; -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.*; -import org.broadinstitute.variant.vcf.VCFUtils; - -import java.io.*; -import java.util.*; - -/** - * VariantContextWriter that emits BCF2 binary encoding - * - * Overall structure of this writer is complex for efficiency reasons - * - * -- The BCF2Writer manages the low-level BCF2 encoder, the mappings - * from contigs and strings to offsets, the VCF header, and holds the - * lower-level encoders that map from VC and Genotype fields to their - * specific encoders. This class also writes out the standard BCF2 fields - * like POS, contig, the size of info and genotype data, QUAL, etc. It - * has loops over the INFO and GENOTYPES to encode each individual datum - * with the generic field encoders, but the actual encoding work is - * done with by the FieldWriters classes themselves - * - * -- BCF2FieldWriter are specialized classes for writing out SITE and - * genotype information for specific SITE/GENOTYPE fields (like AC for - * sites and GQ for genotypes). These are objects in themselves because - * the manage all of the complexity of relating the types in the VCF header - * with the proper encoding in BCF as well as the type representing this - * in java. Relating all three of these pieces of information together - * is the main complexity challenge in the encoder. The piece of code - * that determines which FieldWriters to associate with each SITE and - * GENOTYPE field is the BCF2FieldWriterManager. These FieldWriters - * are specialized for specific combinations of encoders (see below) - * and contexts (genotypes) for efficiency, so they smartly manage - * the writing of PLs (encoded as int[]) directly into the lowest - * level BCFEncoder. - * - * -- At the third level is the BCF2FieldEncoder, relatively simple - * pieces of code that handle the task of determining the right - * BCF2 type for specific field values, as well as reporting back - * information such as the number of elements used to encode it - * (simple for atomic values like Integer but complex for PLs - * or lists of strings) - * - * -- At the lowest level is the BCF2Encoder itself. This provides - * just the limited encoding methods specified by the BCF2 specification. This encoder - * doesn't do anything but make it possible to conveniently write out valid low-level - * BCF2 constructs. - * - * @author Mark DePristo - * @since 06/12 - */ -class BCF2Writer extends IndexingVariantContextWriter { - public static final int MAJOR_VERSION = 2; - public static final int MINOR_VERSION = 1; - - final private static boolean ALLOW_MISSING_CONTIG_LINES = false; - - private final OutputStream outputStream; // Note: do not flush until completely done writing, to avoid issues with eventual BGZF support - private VCFHeader header; - private final Map contigDictionary = new HashMap(); - private final Map stringDictionaryMap = new LinkedHashMap(); - private final boolean doNotWriteGenotypes; - private String[] sampleNames = null; - - private final BCF2Encoder encoder = new BCF2Encoder(); // initialized after the header arrives - final BCF2FieldWriterManager fieldManager = new BCF2FieldWriterManager(); - - /** - * cached results for whether we can write out raw genotypes data. - */ - private VCFHeader lastVCFHeaderOfUnparsedGenotypes = null; - private boolean canPassOnUnparsedGenotypeDataForLastVCFHeader = false; - - - public BCF2Writer(final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing, final boolean doNotWriteGenotypes) { - super(writerName(location, output), location, output, refDict, enableOnTheFlyIndexing); - this.outputStream = getOutputStream(); - this.doNotWriteGenotypes = doNotWriteGenotypes; - } - - // -------------------------------------------------------------------------------- - // - // Interface functions - // - // -------------------------------------------------------------------------------- - - @Override - public void writeHeader(VCFHeader header) { - // make sure the header is sorted correctly - header = new VCFHeader(header.getMetaDataInSortedOrder(), header.getGenotypeSamples()); - - // create the config offsets map - if ( header.getContigLines().isEmpty() ) { - if ( ALLOW_MISSING_CONTIG_LINES ) { - if ( GeneralUtils.DEBUG_MODE_ENABLED ) { - System.err.println("No contig dictionary found in header, falling back to reference sequence dictionary"); - } - createContigDictionary(VCFUtils.makeContigHeaderLines(getRefDict(), null)); - } else { - throw new IllegalStateException("Cannot write BCF2 file with missing contig lines"); - } - } else { - createContigDictionary(header.getContigLines()); - } - - // set up the map from dictionary string values -> offset - final ArrayList dict = BCF2Utils.makeDictionary(header); - for ( int i = 0; i < dict.size(); i++ ) { - stringDictionaryMap.put(dict.get(i), i); - } - - sampleNames = header.getGenotypeSamples().toArray(new String[header.getNGenotypeSamples()]); - - // setup the field encodings - fieldManager.setup(header, encoder, stringDictionaryMap); - - try { - // write out the header into a byte stream, get it's length, and write everything to the file - final ByteArrayOutputStream capture = new ByteArrayOutputStream(); - final OutputStreamWriter writer = new OutputStreamWriter(capture); - this.header = VCFWriter.writeHeader(header, writer, doNotWriteGenotypes, VCFWriter.getVersionLine(), "BCF2 stream"); - writer.append('\0'); // the header is null terminated by a byte - writer.close(); - - final byte[] headerBytes = capture.toByteArray(); - new BCFVersion(MAJOR_VERSION, MINOR_VERSION).write(outputStream); - BCF2Type.INT32.write(headerBytes.length, outputStream); - outputStream.write(headerBytes); - } catch (IOException e) { - throw new RuntimeException("BCF2 stream: Got IOException while trying to write BCF2 header", e); - } - } - - @Override - public void add( VariantContext vc ) { - if ( doNotWriteGenotypes ) - vc = new VariantContextBuilder(vc).noGenotypes().make(); - vc = vc.fullyDecode(header, false); - - super.add(vc); // allow on the fly indexing - - try { - final byte[] infoBlock = buildSitesData(vc); - final byte[] genotypesBlock = buildSamplesData(vc); - - // write the two blocks to disk - writeBlock(infoBlock, genotypesBlock); - } - catch ( IOException e ) { - throw new RuntimeException("Error writing record to BCF2 file: " + vc.toString(), e); - } - } - - @Override - public void close() { - try { - outputStream.flush(); - outputStream.close(); - } - catch ( IOException e ) { - throw new RuntimeException("Failed to close BCF2 file"); - } - super.close(); - } - - // -------------------------------------------------------------------------------- - // - // implicit block - // - // The first four records of BCF are inline untype encoded data of: - // - // 4 byte integer chrom offset - // 4 byte integer start - // 4 byte integer ref length - // 4 byte float qual - // - // -------------------------------------------------------------------------------- - private byte[] buildSitesData( VariantContext vc ) throws IOException { - final int contigIndex = contigDictionary.get(vc.getChr()); - if ( contigIndex == -1 ) - throw new IllegalStateException(String.format("Contig %s not found in sequence dictionary from reference", vc.getChr())); - - // note use of encodeRawValue to not insert the typing byte - encoder.encodeRawValue(contigIndex, BCF2Type.INT32); - - // pos. GATK is 1 based, BCF2 is 0 based - encoder.encodeRawValue(vc.getStart() - 1, BCF2Type.INT32); - - // ref length. GATK is closed, but BCF2 is open so the ref length is GATK end - GATK start + 1 - // for example, a SNP is in GATK at 1:10-10, which has ref length 10 - 10 + 1 = 1 - encoder.encodeRawValue(vc.getEnd() - vc.getStart() + 1, BCF2Type.INT32); - - // qual - if ( vc.hasLog10PError() ) - encoder.encodeRawFloat((float) vc.getPhredScaledQual()); - else - encoder.encodeRawMissingValue(BCF2Type.FLOAT); - - // info fields - final int nAlleles = vc.getNAlleles(); - final int nInfo = vc.getAttributes().size(); - final int nGenotypeFormatFields = getNGenotypeFormatFields(vc); - final int nSamples = header.getNGenotypeSamples(); - - encoder.encodeRawInt((nAlleles << 16) | (nInfo & 0x0000FFFF), BCF2Type.INT32); - encoder.encodeRawInt((nGenotypeFormatFields << 24) | (nSamples & 0x00FFFFF), BCF2Type.INT32); - - buildID(vc); - buildAlleles(vc); - buildFilter(vc); - buildInfo(vc); - - return encoder.getRecordBytes(); - } - - - /** - * Can we safely write on the raw (undecoded) genotypes of an input VC? - * - * The cache depends on the undecoded lazy data header == lastVCFHeaderOfUnparsedGenotypes, in - * which case we return the previous result. If it's not cached, we use the BCF2Util to - * compare the VC header with our header (expensive) and cache it. - * - * @param lazyData - * @return - */ - private boolean canSafelyWriteRawGenotypesBytes(final BCF2Codec.LazyData lazyData) { - if ( lazyData.header != lastVCFHeaderOfUnparsedGenotypes ) { - // result is already cached - canPassOnUnparsedGenotypeDataForLastVCFHeader = BCF2Utils.headerLinesAreOrderedConsistently(this.header,lazyData.header); - lastVCFHeaderOfUnparsedGenotypes = lazyData.header; - } - - return canPassOnUnparsedGenotypeDataForLastVCFHeader; - } - - private BCF2Codec.LazyData getLazyData(final VariantContext vc) { - if ( vc.getGenotypes().isLazyWithData() ) { - final LazyGenotypesContext lgc = (LazyGenotypesContext)vc.getGenotypes(); - - if ( lgc.getUnparsedGenotypeData() instanceof BCF2Codec.LazyData && - canSafelyWriteRawGenotypesBytes((BCF2Codec.LazyData) lgc.getUnparsedGenotypeData())) { - return (BCF2Codec.LazyData)lgc.getUnparsedGenotypeData(); - } else { - lgc.decode(); // WARNING -- required to avoid keeping around bad lazy data for too long - } - } - - return null; - } - - /** - * Try to get the nGenotypeFields as efficiently as possible. - * - * If this is a lazy BCF2 object just grab the field count from there, - * otherwise do the whole counting by types test in the actual data - * - * @param vc - * @return - */ - private final int getNGenotypeFormatFields(final VariantContext vc) { - final BCF2Codec.LazyData lazyData = getLazyData(vc); - return lazyData != null ? lazyData.nGenotypeFields : VCFWriter.calcVCFGenotypeKeys(vc, header).size(); - } - - private void buildID( VariantContext vc ) throws IOException { - encoder.encodeTypedString(vc.getID()); - } - - private void buildAlleles( VariantContext vc ) throws IOException { - for ( Allele allele : vc.getAlleles() ) { - final byte[] s = allele.getDisplayBases(); - if ( s == null ) - throw new IllegalStateException("BUG: BCF2Writer encountered null padded allele" + allele); - encoder.encodeTypedString(s); - } - } - - private void buildFilter( VariantContext vc ) throws IOException { - if ( vc.isFiltered() ) { - encodeStringsByRef(vc.getFilters()); - } else if ( vc.filtersWereApplied() ) { - encodeStringsByRef(Collections.singleton(VCFConstants.PASSES_FILTERS_v4)); - } else { - encoder.encodeTypedMissing(BCF2Type.INT8); - } - } - - private void buildInfo( VariantContext vc ) throws IOException { - for ( Map.Entry infoFieldEntry : vc.getAttributes().entrySet() ) { - final String field = infoFieldEntry.getKey(); - final BCF2FieldWriter.SiteWriter writer = fieldManager.getSiteFieldWriter(field); - if ( writer == null ) errorUnexpectedFieldToWrite(vc, field, "INFO"); - writer.start(encoder, vc); - writer.site(encoder, vc); - writer.done(encoder, vc); - } - } - - private byte[] buildSamplesData(final VariantContext vc) throws IOException { - final BCF2Codec.LazyData lazyData = getLazyData(vc); // has critical side effects - if ( lazyData != null ) { - // we never decoded any data from this BCF file, so just pass it back - return lazyData.bytes; - } - - // we have to do work to convert the VC into a BCF2 byte stream - final List genotypeFields = VCFWriter.calcVCFGenotypeKeys(vc, header); - for ( final String field : genotypeFields ) { - final BCF2FieldWriter.GenotypesWriter writer = fieldManager.getGenotypeFieldWriter(field); - if ( writer == null ) errorUnexpectedFieldToWrite(vc, field, "FORMAT"); - - assert writer != null; - - writer.start(encoder, vc); - for ( final String name : sampleNames ) { - Genotype g = vc.getGenotype(name); - if ( g == null ) g = GenotypeBuilder.createMissing(name, writer.nValuesPerGenotype); - writer.addGenotype(encoder, vc, g); - } - writer.done(encoder, vc); - } - return encoder.getRecordBytes(); - } - - /** - * Throws a meaningful error message when a field (INFO or FORMAT) is found when writing out a file - * but there's no header line for it. - * - * @param vc - * @param field - * @param fieldType - */ - private final void errorUnexpectedFieldToWrite(final VariantContext vc, final String field, final String fieldType) { - throw new IllegalStateException("Found field " + field + " in the " + fieldType + " fields of VariantContext at " + - vc.getChr() + ":" + vc.getStart() + " from " + vc.getSource() + " but this hasn't been defined in the VCFHeader"); - } - - // -------------------------------------------------------------------------------- - // - // Low-level block encoding - // - // -------------------------------------------------------------------------------- - - /** - * Write the data in the encoder to the outputstream as a length encoded - * block of data. After this call the encoder stream will be ready to - * start a new data block - * - * @throws IOException - */ - @Requires({"infoBlock.length > 0", "genotypesBlock.length >= 0"}) - private void writeBlock(final byte[] infoBlock, final byte[] genotypesBlock) throws IOException { - BCF2Type.INT32.write(infoBlock.length, outputStream); - BCF2Type.INT32.write(genotypesBlock.length, outputStream); - outputStream.write(infoBlock); - outputStream.write(genotypesBlock); - } - - @Requires("! strings.isEmpty()") - @Ensures("result.isIntegerType()") - private final BCF2Type encodeStringsByRef(final Collection strings) throws IOException { - final List offsets = new ArrayList(strings.size()); - - // iterate over strings until we find one that needs 16 bits, and break - for ( final String string : strings ) { - final Integer got = stringDictionaryMap.get(string); - if ( got == null ) throw new IllegalStateException("Format error: could not find string " + string + " in header as required by BCF"); - final int offset = got; - offsets.add(offset); - } - - final BCF2Type type = BCF2Utils.determineIntegerType(offsets); - encoder.encodeTyped(offsets, type); - return type; - } - - /** - * Create the contigDictionary from the contigLines extracted from the VCF header - * - * @param contigLines - */ - @Requires("contigDictionary.isEmpty()") - private final void createContigDictionary(final Collection contigLines) { - int offset = 0; - for ( VCFContigHeaderLine contig : contigLines ) - contigDictionary.put(contig.getID(), offset++); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/IndexingVariantContextWriter.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/IndexingVariantContextWriter.java deleted file mode 100644 index 96a4fb411..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/IndexingVariantContextWriter.java +++ /dev/null @@ -1,181 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import net.sf.samtools.SAMSequenceDictionary; -import net.sf.samtools.SAMSequenceRecord; -import org.broad.tribble.Tribble; -import org.broad.tribble.index.DynamicIndexCreator; -import org.broad.tribble.index.Index; -import org.broad.tribble.index.IndexFactory; -import org.broad.tribble.util.LittleEndianOutputStream; -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.VariantContext; - -import java.io.*; - -/** - * this class writes VCF files - */ -abstract class IndexingVariantContextWriter implements VariantContextWriter { - private final String name; - private final SAMSequenceDictionary refDict; - - private OutputStream outputStream; - private PositionalOutputStream positionalOutputStream = null; - private DynamicIndexCreator indexer = null; - private LittleEndianOutputStream idxStream = null; - - @Requires({"name != null", - "! ( location == null && output == null )", - "! ( enableOnTheFlyIndexing && location == null )"}) - protected IndexingVariantContextWriter(final String name, final File location, final OutputStream output, final SAMSequenceDictionary refDict, final boolean enableOnTheFlyIndexing) { - outputStream = output; - this.name = name; - this.refDict = refDict; - - if ( enableOnTheFlyIndexing ) { - try { - idxStream = new LittleEndianOutputStream(new FileOutputStream(Tribble.indexFile(location))); - //System.out.println("Creating index on the fly for " + location); - indexer = new DynamicIndexCreator(IndexFactory.IndexBalanceApproach.FOR_SEEK_TIME); - indexer.initialize(location, indexer.defaultBinSize()); - positionalOutputStream = new PositionalOutputStream(output); - outputStream = positionalOutputStream; - } catch ( IOException ex ) { - // No matter what we keep going, since we don't care if we can't create the index file - idxStream = null; - indexer = null; - positionalOutputStream = null; - } - } - } - - @Ensures("result != null") - public OutputStream getOutputStream() { - return outputStream; - } - - @Ensures("result != null") - public String getStreamName() { - return name; - } - - public abstract void writeHeader(VCFHeader header); - - /** - * attempt to close the VCF file - */ - public void close() { - try { - // try to close the index stream (keep it separate to help debugging efforts) - if ( indexer != null ) { - Index index = indexer.finalizeIndex(positionalOutputStream.getPosition()); - setIndexSequenceDictionary(index, refDict); - index.write(idxStream); - idxStream.close(); - } - - // close the underlying output stream as well - outputStream.close(); - } catch (IOException e) { - throw new RuntimeException("Unable to close index for " + getStreamName(), e); - } - } - - /** - * @return the reference sequence dictionary used for the variant contexts being written - */ - public SAMSequenceDictionary getRefDict() { - return refDict; - } - - /** - * add a record to the file - * - * @param vc the Variant Context object - */ - public void add(VariantContext vc) { - // if we are doing on the fly indexing, add the record ***before*** we write any bytes - if ( indexer != null ) - indexer.addFeature(vc, positionalOutputStream.getPosition()); - } - - /** - * Returns a reasonable "name" for this writer, to display to the user if something goes wrong - * - * @param location - * @param stream - * @return - */ - protected static final String writerName(final File location, final OutputStream stream) { - return location == null ? stream.toString() : location.getAbsolutePath(); - } - - // a constant we use for marking sequence dictionary entries in the Tribble index property list - private static final String SequenceDictionaryPropertyPredicate = "DICT:"; - - private static void setIndexSequenceDictionary(Index index, SAMSequenceDictionary dict) { - for ( SAMSequenceRecord seq : dict.getSequences() ) { - final String contig = SequenceDictionaryPropertyPredicate + seq.getSequenceName(); - final String length = String.valueOf(seq.getSequenceLength()); - index.addProperty(contig,length); - } - } -} - -final class PositionalOutputStream extends OutputStream { - private final OutputStream out; - private long position = 0; - - public PositionalOutputStream(final OutputStream out) { - this.out = out; - } - - public final void write(final byte[] bytes) throws IOException { - write(bytes, 0, bytes.length); - } - - public final void write(final byte[] bytes, final int startIndex, final int numBytes) throws IOException { - position += numBytes; - out.write(bytes, startIndex, numBytes); - } - - public final void write(int c) throws IOException { - position++; - out.write(c); - } - - public final long getPosition() { return position; } - - @Override - public void close() throws IOException { - super.close(); - out.close(); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/IntGenotypeFieldAccessors.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/IntGenotypeFieldAccessors.java deleted file mode 100644 index f02612b43..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/IntGenotypeFieldAccessors.java +++ /dev/null @@ -1,97 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import org.broadinstitute.variant.vcf.VCFConstants; -import org.broadinstitute.variant.variantcontext.Genotype; - -import java.util.HashMap; - -/** - * A convenient way to provide a single view on the many int and int[] field values we work with, - * for writing out the values. This class makes writing out the inline AD, GQ, PL, DP fields - * easy and fast - * - * @author Mark DePristo - * @since 6/12 - */ -class IntGenotypeFieldAccessors { - // initialized once per writer to allow parallel writers to work - private final HashMap intGenotypeFieldEncoders = new HashMap(); - - public IntGenotypeFieldAccessors() { - intGenotypeFieldEncoders.put(VCFConstants.DEPTH_KEY, new IntGenotypeFieldAccessors.DPAccessor()); - intGenotypeFieldEncoders.put(VCFConstants.GENOTYPE_ALLELE_DEPTHS, new IntGenotypeFieldAccessors.ADAccessor()); - intGenotypeFieldEncoders.put(VCFConstants.GENOTYPE_PL_KEY, new IntGenotypeFieldAccessors.PLAccessor()); - intGenotypeFieldEncoders.put(VCFConstants.GENOTYPE_QUALITY_KEY, new IntGenotypeFieldAccessors.GQAccessor()); - } - - /** - * Return an accessor for field, or null if none exists - * @param field - * @return - */ - public Accessor getAccessor(final String field) { - return intGenotypeFieldEncoders.get(field); - } - - public static abstract class Accessor { - public abstract int[] getValues(final Genotype g); - - public final int getSize(final Genotype g) { - final int[] v = getValues(g); - return v == null ? 0 : v.length; - } - } - - private static abstract class AtomicAccessor extends Accessor { - private final int[] singleton = new int[1]; - - @Override - public int[] getValues(final Genotype g) { - singleton[0] = getValue(g); - return singleton[0] == -1 ? null : singleton; - } - - public abstract int getValue(final Genotype g); - } - - public static class GQAccessor extends AtomicAccessor { - @Override public int getValue(final Genotype g) { return Math.min(g.getGQ(), VCFConstants.MAX_GENOTYPE_QUAL); } - } - - public static class DPAccessor extends AtomicAccessor { - @Override public int getValue(final Genotype g) { return g.getDP(); } - } - - public static class ADAccessor extends Accessor { - @Override public int[] getValues(final Genotype g) { return g.getAD(); } - } - - public static class PLAccessor extends Accessor { - @Override public int[] getValues(final Genotype g) { return g.getPL(); } - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/Options.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/Options.java deleted file mode 100644 index 3b6d46451..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/Options.java +++ /dev/null @@ -1,39 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -/** - * Available writer options for VariantContextWriters - * - * @author Mark DePristo - * @since 5/12 - */ -public enum Options { - INDEX_ON_THE_FLY, - DO_NOT_WRITE_GENOTYPES, - ALLOW_MISSING_FIELDS_IN_HEADER, - FORCE_BCF -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/SortingVariantContextWriter.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/SortingVariantContextWriter.java deleted file mode 100644 index d7254fa71..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/SortingVariantContextWriter.java +++ /dev/null @@ -1,61 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import org.broadinstitute.variant.variantcontext.VariantContext; - -/** - * this class writes VCF files, allowing records to be passed in unsorted (up to a certain genomic distance away) - */ -class SortingVariantContextWriter extends SortingVariantContextWriterBase { - - // the maximum START distance between records that we'll cache - private int maxCachingStartDistance; - - /** - * create a local-sorting VCF writer, given an inner VCF writer to write to - * - * @param innerWriter the VCFWriter to write to - * @param maxCachingStartDistance the maximum start distance between records that we'll cache - * @param takeOwnershipOfInner Should this Writer close innerWriter when it's done with it - */ - public SortingVariantContextWriter(VariantContextWriter innerWriter, int maxCachingStartDistance, boolean takeOwnershipOfInner) { - super(innerWriter, takeOwnershipOfInner); - this.maxCachingStartDistance = maxCachingStartDistance; - } - - public SortingVariantContextWriter(VariantContextWriter innerWriter, int maxCachingStartDistance) { - this(innerWriter, maxCachingStartDistance, false); // by default, don't own inner - } - - protected void noteCurrentRecord(VariantContext vc) { - super.noteCurrentRecord(vc); // first, check for errors - - // then, update mostUpstreamWritableLoc: - int mostUpstreamWritableIndex = vc.getStart() - maxCachingStartDistance; - this.mostUpstreamWritableLoc = Math.max(BEFORE_MOST_UPSTREAM_LOC, mostUpstreamWritableIndex); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/SortingVariantContextWriterBase.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/SortingVariantContextWriterBase.java deleted file mode 100644 index c4588dff6..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/SortingVariantContextWriterBase.java +++ /dev/null @@ -1,195 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.VariantContext; - -import java.util.*; -import java.util.concurrent.PriorityBlockingQueue; - -/** - * This class writes VCF files, allowing records to be passed in unsorted. - * It also enforces that it is never passed records of the same chromosome with any other chromosome in between them. - */ -abstract class SortingVariantContextWriterBase implements VariantContextWriter { - - // The VCFWriter to which to actually write the sorted VCF records - private final VariantContextWriter innerWriter; - - // the current queue of un-emitted records - private final Queue queue; - - // The locus until which we are permitted to write out (inclusive) - protected Integer mostUpstreamWritableLoc; - protected static final int BEFORE_MOST_UPSTREAM_LOC = 0; // No real locus index is <= 0 - - // The set of chromosomes already passed over and to which it is forbidden to return - private final Set finishedChromosomes; - - // Should we call innerWriter.close() in close() - private final boolean takeOwnershipOfInner; - - // -------------------------------------------------------------------------------- - // - // Constructors - // - // -------------------------------------------------------------------------------- - - /** - * create a local-sorting VCF writer, given an inner VCF writer to write to - * - * @param innerWriter the VCFWriter to write to - * @param takeOwnershipOfInner Should this Writer close innerWriter when it's done with it - */ - public SortingVariantContextWriterBase(VariantContextWriter innerWriter, boolean takeOwnershipOfInner) { - this.innerWriter = innerWriter; - this.finishedChromosomes = new TreeSet(); - this.takeOwnershipOfInner = takeOwnershipOfInner; - - // has to be PriorityBlockingQueue to be thread-safe - this.queue = new PriorityBlockingQueue(50, new VariantContextComparator()); - - this.mostUpstreamWritableLoc = BEFORE_MOST_UPSTREAM_LOC; - } - - public SortingVariantContextWriterBase(VariantContextWriter innerWriter) { - this(innerWriter, false); // by default, don't own inner - } - - // -------------------------------------------------------------------------------- - // - // public interface functions - // - // -------------------------------------------------------------------------------- - - @Override - public void writeHeader(VCFHeader header) { - innerWriter.writeHeader(header); - } - - /** - * attempt to close the VCF file; we need to flush the queue first - */ - @Override - public void close() { - stopWaitingToSort(); - - if (takeOwnershipOfInner) - innerWriter.close(); - } - - - /** - * add a record to the file - * - * @param vc the Variant Context object - */ - @Override - public synchronized void add(VariantContext vc) { - /* Note that the code below does not prevent the successive add()-ing of: (chr1, 10), (chr20, 200), (chr15, 100) - since there is no implicit ordering of chromosomes: - */ - VCFRecord firstRec = queue.peek(); - if (firstRec != null && !vc.getChr().equals(firstRec.vc.getChr())) { // if we hit a new contig, flush the queue - if (finishedChromosomes.contains(vc.getChr())) - throw new IllegalArgumentException("Added a record at " + vc.getChr() + ":" + vc.getStart() + ", but already finished with chromosome" + vc.getChr()); - - finishedChromosomes.add(firstRec.vc.getChr()); - stopWaitingToSort(); - } - - noteCurrentRecord(vc); // possibly overwritten - - queue.add(new VCFRecord(vc)); - emitSafeRecords(); - } - - /** - * Gets a string representation of this object. - * @return a string representation of this object - */ - @Override - public String toString() { - return getClass().getName(); - } - - // -------------------------------------------------------------------------------- - // - // protected interface functions for subclasses to use - // - // -------------------------------------------------------------------------------- - - private synchronized void stopWaitingToSort() { - emitRecords(true); - mostUpstreamWritableLoc = BEFORE_MOST_UPSTREAM_LOC; - } - - protected synchronized void emitSafeRecords() { - emitRecords(false); - } - - protected void noteCurrentRecord(VariantContext vc) { - // did the user break the contract by giving a record too late? - if (mostUpstreamWritableLoc != null && vc.getStart() < mostUpstreamWritableLoc) // went too far back, since may have already written anything that is <= mostUpstreamWritableLoc - throw new IllegalArgumentException("Permitted to write any record upstream of position " + mostUpstreamWritableLoc + ", but a record at " + vc.getChr() + ":" + vc.getStart() + " was just added."); - } - - // -------------------------------------------------------------------------------- - // - // private implementation functions - // - // -------------------------------------------------------------------------------- - - private synchronized void emitRecords(boolean emitUnsafe) { - while (!queue.isEmpty()) { - VCFRecord firstRec = queue.peek(); - - // No need to wait, waiting for nothing, or before what we're waiting for: - if (emitUnsafe || mostUpstreamWritableLoc == null || firstRec.vc.getStart() <= mostUpstreamWritableLoc) { - queue.poll(); - innerWriter.add(firstRec.vc); - } - else { - break; - } - } - } - - private static class VariantContextComparator implements Comparator { - public int compare(VCFRecord r1, VCFRecord r2) { - return r1.vc.getStart() - r2.vc.getStart(); - } - } - - private static class VCFRecord { - public VariantContext vc; - - public VCFRecord(VariantContext vc) { - this.vc = vc; - } - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/VCFWriter.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/VCFWriter.java deleted file mode 100644 index e794e9249..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/VCFWriter.java +++ /dev/null @@ -1,606 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import net.sf.samtools.SAMSequenceDictionary; -import org.broad.tribble.TribbleException; -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.vcf.*; -import org.broadinstitute.variant.variantcontext.*; - -import java.io.*; -import java.lang.reflect.Array; -import java.nio.charset.Charset; -import java.util.*; - -/** - * this class writes VCF files - */ -class VCFWriter extends IndexingVariantContextWriter { - private final static String VERSION_LINE = VCFHeader.METADATA_INDICATOR + VCFHeaderVersion.VCF4_1.getFormatString() + "=" + VCFHeaderVersion.VCF4_1.getVersionString(); - - // should we write genotypes or just sites? - final protected boolean doNotWriteGenotypes; - - // the VCF header we're storing - protected VCFHeader mHeader = null; - - final private boolean allowMissingFieldsInHeader; - - /** - * The VCF writer uses an internal Writer, based by the ByteArrayOutputStream lineBuffer, - * to temp. buffer the header and per-site output before flushing the per line output - * in one go to the super.getOutputStream. This results in high-performance, proper encoding, - * and allows us to avoid flushing explicitly the output stream getOutputStream, which - * allows us to properly compress vcfs in gz format without breaking indexing on the fly - * for uncompressed streams. - */ - private static final int INITIAL_BUFFER_SIZE = 1024 * 16; - private final ByteArrayOutputStream lineBuffer = new ByteArrayOutputStream(INITIAL_BUFFER_SIZE); - private final Writer writer; - - /** - * The encoding used for VCF files. ISO-8859-1 - */ - final private Charset charset; - - private IntGenotypeFieldAccessors intGenotypeFieldAccessors = new IntGenotypeFieldAccessors(); - - public VCFWriter(final File location, final OutputStream output, final SAMSequenceDictionary refDict, - final boolean enableOnTheFlyIndexing, boolean doNotWriteGenotypes, - final boolean allowMissingFieldsInHeader ) { - super(writerName(location, output), location, output, refDict, enableOnTheFlyIndexing); - this.doNotWriteGenotypes = doNotWriteGenotypes; - this.allowMissingFieldsInHeader = allowMissingFieldsInHeader; - this.charset = Charset.forName("ISO-8859-1"); - this.writer = new OutputStreamWriter(lineBuffer, charset); - } - - // -------------------------------------------------------------------------------- - // - // VCFWriter interface functions - // - // -------------------------------------------------------------------------------- - - /** - * Write String s to the internal buffered writer. - * - * flushBuffer() must be called to actually write the data to the true output stream. - * - * @param s the string to write - * @throws IOException - */ - private void write(final String s) throws IOException { - writer.write(s); - } - - /** - * Actually write the line buffer contents to the destination output stream. - * - * After calling this function the line buffer is reset, so the contents of the buffer can be reused - * - * @throws IOException - */ - private void flushBuffer() throws IOException { - writer.flush(); - getOutputStream().write(lineBuffer.toByteArray()); - lineBuffer.reset(); - } - - @Override - public void writeHeader(VCFHeader header) { - // note we need to update the mHeader object after this call because they header - // may have genotypes trimmed out of it, if doNotWriteGenotypes is true - try { - mHeader = writeHeader(header, writer, doNotWriteGenotypes, getVersionLine(), getStreamName()); - flushBuffer(); - } catch ( IOException e ) { - throw new RuntimeException("Couldn't write file " + getStreamName(), e); - } - } - - public static String getVersionLine() { - return VERSION_LINE; - } - - public static VCFHeader writeHeader(VCFHeader header, - final Writer writer, - final boolean doNotWriteGenotypes, - final String versionLine, - final String streamNameForError) { - header = doNotWriteGenotypes ? new VCFHeader(header.getMetaDataInSortedOrder()) : header; - - try { - // the file format field needs to be written first - writer.write(versionLine + "\n"); - - for ( VCFHeaderLine line : header.getMetaDataInSortedOrder() ) { - if ( VCFHeaderVersion.isFormatString(line.getKey()) ) - continue; - - writer.write(VCFHeader.METADATA_INDICATOR); - writer.write(line.toString()); - writer.write("\n"); - } - - // write out the column line - writer.write(VCFHeader.HEADER_INDICATOR); - boolean isFirst = true; - for ( VCFHeader.HEADER_FIELDS field : header.getHeaderFields() ) { - if ( isFirst ) - isFirst = false; // don't write out a field separator - else - writer.write(VCFConstants.FIELD_SEPARATOR); - writer.write(field.toString()); - } - - if ( header.hasGenotypingData() ) { - writer.write(VCFConstants.FIELD_SEPARATOR); - writer.write("FORMAT"); - for ( String sample : header.getGenotypeSamples() ) { - writer.write(VCFConstants.FIELD_SEPARATOR); - writer.write(sample); - } - } - - writer.write("\n"); - writer.flush(); // necessary so that writing to an output stream will work - } - catch (IOException e) { - throw new RuntimeException("IOException writing the VCF header to " + streamNameForError, e); - } - - return header; - } - - /** - * attempt to close the VCF file - */ - @Override - public void close() { - // try to close the vcf stream - try { - // TODO -- would it be useful to null out the line buffer so we don't have it around unnecessarily? - writer.close(); - } catch (IOException e) { - throw new RuntimeException("Unable to close " + getStreamName(), e); - } - - super.close(); - } - - /** - * add a record to the file - * - * @param vc the Variant Context object - */ - @Override - public void add(VariantContext vc) { - if ( mHeader == null ) - throw new IllegalStateException("The VCF Header must be written before records can be added: " + getStreamName()); - - if ( doNotWriteGenotypes ) - vc = new VariantContextBuilder(vc).noGenotypes().make(); - - try { - super.add(vc); - - Map alleleMap = buildAlleleMap(vc); - - // CHROM - write(vc.getChr()); - write(VCFConstants.FIELD_SEPARATOR); - - // POS - write(String.valueOf(vc.getStart())); - write(VCFConstants.FIELD_SEPARATOR); - - // ID - String ID = vc.getID(); - write(ID); - write(VCFConstants.FIELD_SEPARATOR); - - // REF - String refString = vc.getReference().getDisplayString(); - write(refString); - write(VCFConstants.FIELD_SEPARATOR); - - // ALT - if ( vc.isVariant() ) { - Allele altAllele = vc.getAlternateAllele(0); - String alt = altAllele.getDisplayString(); - write(alt); - - for (int i = 1; i < vc.getAlternateAlleles().size(); i++) { - altAllele = vc.getAlternateAllele(i); - alt = altAllele.getDisplayString(); - write(","); - write(alt); - } - } else { - write(VCFConstants.EMPTY_ALTERNATE_ALLELE_FIELD); - } - write(VCFConstants.FIELD_SEPARATOR); - - // QUAL - if ( !vc.hasLog10PError() ) - write(VCFConstants.MISSING_VALUE_v4); - else - write(formatQualValue(vc.getPhredScaledQual())); - write(VCFConstants.FIELD_SEPARATOR); - - // FILTER - String filters = getFilterString(vc); - write(filters); - write(VCFConstants.FIELD_SEPARATOR); - - // INFO - Map infoFields = new TreeMap(); - for ( Map.Entry field : vc.getAttributes().entrySet() ) { - String key = field.getKey(); - - if ( ! mHeader.hasInfoLine(key) ) - fieldIsMissingFromHeaderError(vc, key, "INFO"); - - String outputValue = formatVCFField(field.getValue()); - if ( outputValue != null ) - infoFields.put(key, outputValue); - } - writeInfoString(infoFields); - - // FORMAT - final GenotypesContext gc = vc.getGenotypes(); - if ( gc.isLazyWithData() && ((LazyGenotypesContext)gc).getUnparsedGenotypeData() instanceof String ) { - write(VCFConstants.FIELD_SEPARATOR); - write(((LazyGenotypesContext) gc).getUnparsedGenotypeData().toString()); - } else { - List genotypeAttributeKeys = calcVCFGenotypeKeys(vc, mHeader); - if ( ! genotypeAttributeKeys.isEmpty() ) { - for ( final String format : genotypeAttributeKeys ) - if ( ! mHeader.hasFormatLine(format) ) - fieldIsMissingFromHeaderError(vc, format, "FORMAT"); - - final String genotypeFormatString = ParsingUtils.join(VCFConstants.GENOTYPE_FIELD_SEPARATOR, genotypeAttributeKeys); - - write(VCFConstants.FIELD_SEPARATOR); - write(genotypeFormatString); - - addGenotypeData(vc, alleleMap, genotypeAttributeKeys); - } - } - - write("\n"); - // note that we cannot call flush here if we want block gzipping to work properly - // calling flush results in all gzipped blocks for each variant - flushBuffer(); - } catch (IOException e) { - throw new RuntimeException("Unable to write the VCF object to " + getStreamName(), e); - } - } - - private static Map buildAlleleMap(final VariantContext vc) { - final Map alleleMap = new HashMap(vc.getAlleles().size()+1); - alleleMap.put(Allele.NO_CALL, VCFConstants.EMPTY_ALLELE); // convenience for lookup - - final List alleles = vc.getAlleles(); - for ( int i = 0; i < alleles.size(); i++ ) { - alleleMap.put(alleles.get(i), String.valueOf(i)); - } - - return alleleMap; - } - - // -------------------------------------------------------------------------------- - // - // implementation functions - // - // -------------------------------------------------------------------------------- - - private final String getFilterString(final VariantContext vc) { - if ( vc.isFiltered() ) { - for ( final String filter : vc.getFilters() ) - if ( ! mHeader.hasFilterLine(filter) ) - fieldIsMissingFromHeaderError(vc, filter, "FILTER"); - - return ParsingUtils.join(";", ParsingUtils.sortList(vc.getFilters())); - } - else if ( vc.filtersWereApplied() ) - return VCFConstants.PASSES_FILTERS_v4; - else - return VCFConstants.UNFILTERED; - } - - private static final String QUAL_FORMAT_STRING = "%.2f"; - private static final String QUAL_FORMAT_EXTENSION_TO_TRIM = ".00"; - - private String formatQualValue(double qual) { - String s = String.format(QUAL_FORMAT_STRING, qual); - if ( s.endsWith(QUAL_FORMAT_EXTENSION_TO_TRIM) ) - s = s.substring(0, s.length() - QUAL_FORMAT_EXTENSION_TO_TRIM.length()); - return s; - } - - /** - * create the info string; assumes that no values are null - * - * @param infoFields a map of info fields - * @throws IOException for writer - */ - private void writeInfoString(Map infoFields) throws IOException { - if ( infoFields.isEmpty() ) { - write(VCFConstants.EMPTY_INFO_FIELD); - return; - } - - boolean isFirst = true; - for ( Map.Entry entry : infoFields.entrySet() ) { - if ( isFirst ) - isFirst = false; - else - write(VCFConstants.INFO_FIELD_SEPARATOR); - - String key = entry.getKey(); - write(key); - - if ( !entry.getValue().equals("") ) { - VCFInfoHeaderLine metaData = mHeader.getInfoHeaderLine(key); - if ( metaData == null || metaData.getCountType() != VCFHeaderLineCount.INTEGER || metaData.getCount() != 0 ) { - write("="); - write(entry.getValue()); - } - } - } - } - - /** - * add the genotype data - * - * @param vc the variant context - * @param genotypeFormatKeys Genotype formatting string - * @param alleleMap alleles for this context - * @throws IOException for writer - */ - private void addGenotypeData(VariantContext vc, Map alleleMap, List genotypeFormatKeys) - throws IOException { - final int ploidy = vc.getMaxPloidy(2); - - for ( String sample : mHeader.getGenotypeSamples() ) { - write(VCFConstants.FIELD_SEPARATOR); - - Genotype g = vc.getGenotype(sample); - if ( g == null ) g = GenotypeBuilder.createMissing(sample, ploidy); - - final List attrs = new ArrayList(genotypeFormatKeys.size()); - for ( String field : genotypeFormatKeys ) { - if ( field.equals(VCFConstants.GENOTYPE_KEY) ) { - if ( !g.isAvailable() ) { - throw new IllegalStateException("GTs cannot be missing for some samples if they are available for others in the record"); - } - - writeAllele(g.getAllele(0), alleleMap); - for (int i = 1; i < g.getPloidy(); i++) { - write(g.isPhased() ? VCFConstants.PHASED : VCFConstants.UNPHASED); - writeAllele(g.getAllele(i), alleleMap); - } - - continue; - } else { - String outputValue; - if ( field.equals(VCFConstants.GENOTYPE_FILTER_KEY ) ) { - outputValue = g.isFiltered() ? g.getFilters() : VCFConstants.PASSES_FILTERS_v4; - } else { - final IntGenotypeFieldAccessors.Accessor accessor = intGenotypeFieldAccessors.getAccessor(field); - if ( accessor != null ) { - final int[] intValues = accessor.getValues(g); - if ( intValues == null ) - outputValue = VCFConstants.MISSING_VALUE_v4; - else if ( intValues.length == 1 ) // fast path - outputValue = Integer.toString(intValues[0]); - else { - StringBuilder sb = new StringBuilder(); - sb.append(intValues[0]); - for ( int i = 1; i < intValues.length; i++) { - sb.append(","); - sb.append(intValues[i]); - } - outputValue = sb.toString(); - } - } else { - Object val = g.hasExtendedAttribute(field) ? g.getExtendedAttribute(field) : VCFConstants.MISSING_VALUE_v4; - - VCFFormatHeaderLine metaData = mHeader.getFormatHeaderLine(field); - if ( metaData != null ) { - int numInFormatField = metaData.getCount(vc); - if ( numInFormatField > 1 && val.equals(VCFConstants.MISSING_VALUE_v4) ) { - // If we have a missing field but multiple values are expected, we need to construct a new string with all fields. - // For example, if Number=2, the string has to be ".,." - StringBuilder sb = new StringBuilder(VCFConstants.MISSING_VALUE_v4); - for ( int i = 1; i < numInFormatField; i++ ) { - sb.append(","); - sb.append(VCFConstants.MISSING_VALUE_v4); - } - val = sb.toString(); - } - } - - // assume that if key is absent, then the given string encoding suffices - outputValue = formatVCFField(val); - } - } - - if ( outputValue != null ) - attrs.add(outputValue); - } - } - - // strip off trailing missing values - for (int i = attrs.size()-1; i >= 0; i--) { - if ( isMissingValue(attrs.get(i)) ) - attrs.remove(i); - else - break; - } - - for (int i = 0; i < attrs.size(); i++) { - if ( i > 0 || genotypeFormatKeys.contains(VCFConstants.GENOTYPE_KEY) ) - write(VCFConstants.GENOTYPE_FIELD_SEPARATOR); - write(attrs.get(i)); - } - } - } - - private boolean isMissingValue(String s) { - // we need to deal with the case that it's a list of missing values - return (countOccurrences(VCFConstants.MISSING_VALUE_v4.charAt(0), s) + countOccurrences(',', s) == s.length()); - } - - private void writeAllele(Allele allele, Map alleleMap) throws IOException { - String encoding = alleleMap.get(allele); - if ( encoding == null ) - throw new TribbleException.InternalCodecException("Allele " + allele + " is not an allele in the variant context"); - write(encoding); - } - - /** - * Takes a double value and pretty prints it to a String for display - * - * Large doubles => gets %.2f style formatting - * Doubles < 1 / 10 but > 1/100 => get %.3f style formatting - * Double < 1/100 => %.3e formatting - * @param d - * @return - */ - public static final String formatVCFDouble(final double d) { - String format; - if ( d < 1 ) { - if ( d < 0.01 ) { - if ( Math.abs(d) >= 1e-20 ) - format = "%.3e"; - else { - // return a zero format - return "0.00"; - } - } else { - format = "%.3f"; - } - } else { - format = "%.2f"; - } - - return String.format(format, d); - } - - public static String formatVCFField(Object val) { - String result; - if ( val == null ) - result = VCFConstants.MISSING_VALUE_v4; - else if ( val instanceof Double ) - result = formatVCFDouble((Double) val); - else if ( val instanceof Boolean ) - result = (Boolean)val ? "" : null; // empty string for true, null for false - else if ( val instanceof List ) { - result = formatVCFField(((List)val).toArray()); - } else if ( val.getClass().isArray() ) { - final int length = Array.getLength(val); - if ( length == 0 ) - return formatVCFField(null); - final StringBuilder sb = new StringBuilder(formatVCFField(Array.get(val, 0))); - for ( int i = 1; i < length; i++) { - sb.append(","); - sb.append(formatVCFField(Array.get(val, i))); - } - result = sb.toString(); - } else - result = val.toString(); - - return result; - } - - /** - * Determine which genotype fields are in use in the genotypes in VC - * @param vc - * @return an ordered list of genotype fields in use in VC. If vc has genotypes this will always include GT first - */ - public static List calcVCFGenotypeKeys(final VariantContext vc, final VCFHeader header) { - Set keys = new HashSet(); - - boolean sawGoodGT = false; - boolean sawGoodQual = false; - boolean sawGenotypeFilter = false; - boolean sawDP = false; - boolean sawAD = false; - boolean sawPL = false; - for ( final Genotype g : vc.getGenotypes() ) { - keys.addAll(g.getExtendedAttributes().keySet()); - if ( g.isAvailable() ) sawGoodGT = true; - if ( g.hasGQ() ) sawGoodQual = true; - if ( g.hasDP() ) sawDP = true; - if ( g.hasAD() ) sawAD = true; - if ( g.hasPL() ) sawPL = true; - if (g.isFiltered()) sawGenotypeFilter = true; - } - - if ( sawGoodQual ) keys.add(VCFConstants.GENOTYPE_QUALITY_KEY); - if ( sawDP ) keys.add(VCFConstants.DEPTH_KEY); - if ( sawAD ) keys.add(VCFConstants.GENOTYPE_ALLELE_DEPTHS); - if ( sawPL ) keys.add(VCFConstants.GENOTYPE_PL_KEY); - if ( sawGenotypeFilter ) keys.add(VCFConstants.GENOTYPE_FILTER_KEY); - - List sortedList = ParsingUtils.sortList(new ArrayList(keys)); - - // make sure the GT is first - if ( sawGoodGT ) { - List newList = new ArrayList(sortedList.size()+1); - newList.add(VCFConstants.GENOTYPE_KEY); - newList.addAll(sortedList); - sortedList = newList; - } - - if ( sortedList.isEmpty() && header.hasGenotypingData() ) { - // this needs to be done in case all samples are no-calls - return Collections.singletonList(VCFConstants.GENOTYPE_KEY); - } else { - return sortedList; - } - } - - - private static int countOccurrences(char c, String s) { - int count = 0; - for (int i = 0; i < s.length(); i++) { - count += s.charAt(i) == c ? 1 : 0; - } - return count; - } - - private final void fieldIsMissingFromHeaderError(final VariantContext vc, final String id, final String field) { - if ( !allowMissingFieldsInHeader) - throw new IllegalStateException("Key " + id + " found in VariantContext field " + field - + " at " + vc.getChr() + ":" + vc.getStart() - + " but this key isn't defined in the VCFHeader. We require all VCFs to have" - + " complete VCF headers by default."); - } -} diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/VariantContextWriter.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/VariantContextWriter.java deleted file mode 100644 index 4ab6b2dd4..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/VariantContextWriter.java +++ /dev/null @@ -1,44 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.VariantContext; - -/** - * this class writes VCF files - */ -public interface VariantContextWriter { - - public void writeHeader(VCFHeader header); - - /** - * attempt to close the VCF file - */ - public void close(); - - public void add(VariantContext vc); -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/variantcontext/writer/VariantContextWriterFactory.java b/public/java/src/org/broadinstitute/variant/variantcontext/writer/VariantContextWriterFactory.java deleted file mode 100644 index 542c7e422..000000000 --- a/public/java/src/org/broadinstitute/variant/variantcontext/writer/VariantContextWriterFactory.java +++ /dev/null @@ -1,121 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import net.sf.samtools.SAMSequenceDictionary; - -import java.io.File; -import java.io.FileNotFoundException; -import java.io.FileOutputStream; -import java.io.OutputStream; -import java.util.EnumSet; - -/** - * Factory methods to create VariantContext writers - * - * @author depristo - * @since 5/12 - */ -public class VariantContextWriterFactory { - - public static final EnumSet DEFAULT_OPTIONS = EnumSet.of(Options.INDEX_ON_THE_FLY); - public static final EnumSet NO_OPTIONS = EnumSet.noneOf(Options.class); - - private VariantContextWriterFactory() {} - - public static VariantContextWriter create(final File location, final SAMSequenceDictionary refDict) { - return create(location, openOutputStream(location), refDict, DEFAULT_OPTIONS); - } - - public static VariantContextWriter create(final File location, final SAMSequenceDictionary refDict, final EnumSet options) { - return create(location, openOutputStream(location), refDict, options); - } - - public static VariantContextWriter create(final File location, - final OutputStream output, - final SAMSequenceDictionary refDict) { - return create(location, output, refDict, DEFAULT_OPTIONS); - } - - public static VariantContextWriter create(final OutputStream output, - final SAMSequenceDictionary refDict, - final EnumSet options) { - return create(null, output, refDict, options); - } - - public static VariantContextWriter create(final File location, - final OutputStream output, - final SAMSequenceDictionary refDict, - final EnumSet options) { - final boolean enableBCF = isBCFOutput(location, options); - - if ( enableBCF ) - return new BCF2Writer(location, output, refDict, - options.contains(Options.INDEX_ON_THE_FLY), - options.contains(Options.DO_NOT_WRITE_GENOTYPES)); - else { - return new VCFWriter(location, output, refDict, - options.contains(Options.INDEX_ON_THE_FLY), - options.contains(Options.DO_NOT_WRITE_GENOTYPES), - options.contains(Options.ALLOW_MISSING_FIELDS_IN_HEADER)); - } - } - - /** - * Should we output a BCF file based solely on the name of the file at location? - * - * @param location - * @return - */ - public static boolean isBCFOutput(final File location) { - return isBCFOutput(location, EnumSet.noneOf(Options.class)); - } - - public static boolean isBCFOutput(final File location, final EnumSet options) { - return options.contains(Options.FORCE_BCF) || (location != null && location.getName().contains(".bcf")); - } - - public static VariantContextWriter sortOnTheFly(final VariantContextWriter innerWriter, int maxCachingStartDistance) { - return sortOnTheFly(innerWriter, maxCachingStartDistance, false); - } - - public static VariantContextWriter sortOnTheFly(final VariantContextWriter innerWriter, int maxCachingStartDistance, boolean takeOwnershipOfInner) { - return new SortingVariantContextWriter(innerWriter, maxCachingStartDistance, takeOwnershipOfInner); - } - - /** - * Returns a output stream writing to location, or throws an exception if this fails - * @param location - * @return - */ - protected static OutputStream openOutputStream(final File location) { - try { - return new FileOutputStream(location); - } catch (FileNotFoundException e) { - throw new RuntimeException(location + ": Unable to create VCF writer", e); - } - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/AbstractVCFCodec.java b/public/java/src/org/broadinstitute/variant/vcf/AbstractVCFCodec.java deleted file mode 100644 index a4ccd050a..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/AbstractVCFCodec.java +++ /dev/null @@ -1,724 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.AsciiFeatureCodec; -import org.broad.tribble.Feature; -import org.broad.tribble.NameAwareCodec; -import org.broad.tribble.TribbleException; -import org.broad.tribble.readers.LineReader; -import net.sf.samtools.util.BlockCompressedInputStream; -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.variantcontext.*; - -import java.io.FileInputStream; -import java.io.FileNotFoundException; -import java.io.IOException; -import java.io.InputStream; -import java.util.*; -import java.util.zip.GZIPInputStream; - - -public abstract class AbstractVCFCodec extends AsciiFeatureCodec implements NameAwareCodec { - public final static int MAX_ALLELE_SIZE_BEFORE_WARNING = (int)Math.pow(2, 20); - - protected final static int NUM_STANDARD_FIELDS = 8; // INFO is the 8th column - - // we have to store the list of strings that make up the header until they're needed - protected VCFHeader header = null; - protected VCFHeaderVersion version = null; - - // a mapping of the allele - protected Map> alleleMap = new HashMap>(3); - - // for ParsingUtils.split - protected String[] GTValueArray = new String[100]; - protected String[] genotypeKeyArray = new String[100]; - protected String[] infoFieldArray = new String[1000]; - protected String[] infoValueArray = new String[1000]; - - // for performance testing purposes - public static boolean validate = true; - - // a key optimization -- we need a per thread string parts array, so we don't allocate a big array over and over - // todo: make this thread safe? - protected String[] parts = null; - protected String[] genotypeParts = null; - protected final String[] locParts = new String[6]; - - // for performance we cache the hashmap of filter encodings for quick lookup - protected HashMap> filterHash = new HashMap>(); - - // we store a name to give to each of the variant contexts we emit - protected String name = "Unknown"; - - protected int lineNo = 0; - - protected Map stringCache = new HashMap(); - - protected boolean warnedAboutNoEqualsForNonFlag = false; - - /** - * If true, then we'll magically fix up VCF headers on the fly when we read them in - */ - protected boolean doOnTheFlyModifications = true; - - protected AbstractVCFCodec() { - super(VariantContext.class); - } - - /** - * Creates a LazyParser for a LazyGenotypesContext to use to decode - * our genotypes only when necessary. We do this instead of eagarly - * decoding the genotypes just to turn around and reencode in the frequent - * case where we don't actually want to manipulate the genotypes - */ - class LazyVCFGenotypesParser implements LazyGenotypesContext.LazyParser { - final List alleles; - final String contig; - final int start; - - LazyVCFGenotypesParser(final List alleles, final String contig, final int start) { - this.alleles = alleles; - this.contig = contig; - this.start = start; - } - - @Override - public LazyGenotypesContext.LazyData parse(final Object data) { - //System.out.printf("Loading genotypes... %s:%d%n", contig, start); - return createGenotypeMap((String) data, alleles, contig, start); - } - } - - /** - * @param reader the line reader to take header lines from - * @return the number of header lines - */ - public abstract Object readHeader(LineReader reader); - - /** - * parse the filter string, first checking to see if we already have parsed it in a previous attempt - * @param filterString the string to parse - * @return a set of the filters applied - */ - protected abstract List parseFilters(String filterString); - - /** - * create a VCF header from a set of header record lines - * - * @param headerStrings a list of strings that represent all the ## and # entries - * @return a VCFHeader object - */ - protected VCFHeader parseHeaderFromLines( final List headerStrings, final VCFHeaderVersion version ) { - this.version = version; - - Set metaData = new LinkedHashSet(); - Set sampleNames = new LinkedHashSet(); - int contigCounter = 0; - // iterate over all the passed in strings - for ( String str : headerStrings ) { - if ( !str.startsWith(VCFHeader.METADATA_INDICATOR) ) { - String[] strings = str.substring(1).split(VCFConstants.FIELD_SEPARATOR); - if ( strings.length < VCFHeader.HEADER_FIELDS.values().length ) - throw new TribbleException.InvalidHeader("there are not enough columns present in the header line: " + str); - - int arrayIndex = 0; - for (VCFHeader.HEADER_FIELDS field : VCFHeader.HEADER_FIELDS.values()) { - try { - if (field != VCFHeader.HEADER_FIELDS.valueOf(strings[arrayIndex])) - throw new TribbleException.InvalidHeader("we were expecting column name '" + field + "' but we saw '" + strings[arrayIndex] + "'"); - } catch (IllegalArgumentException e) { - throw new TribbleException.InvalidHeader("unknown column name '" + strings[arrayIndex] + "'; it does not match a legal column header name."); - } - arrayIndex++; - } - - boolean sawFormatTag = false; - if ( arrayIndex < strings.length ) { - if ( !strings[arrayIndex].equals("FORMAT") ) - throw new TribbleException.InvalidHeader("we were expecting column name 'FORMAT' but we saw '" + strings[arrayIndex] + "'"); - sawFormatTag = true; - arrayIndex++; - } - - while ( arrayIndex < strings.length ) - sampleNames.add(strings[arrayIndex++]); - - if ( sawFormatTag && sampleNames.size() == 0 ) - throw new TribbleException.InvalidHeader("The FORMAT field was provided but there is no genotype/sample data"); - - } else { - if ( str.startsWith(VCFConstants.INFO_HEADER_START) ) { - final VCFInfoHeaderLine info = new VCFInfoHeaderLine(str.substring(7), version); - metaData.add(info); - } else if ( str.startsWith(VCFConstants.FILTER_HEADER_START) ) { - final VCFFilterHeaderLine filter = new VCFFilterHeaderLine(str.substring(9), version); - metaData.add(filter); - } else if ( str.startsWith(VCFConstants.FORMAT_HEADER_START) ) { - final VCFFormatHeaderLine format = new VCFFormatHeaderLine(str.substring(9), version); - metaData.add(format); - } else if ( str.startsWith(VCFConstants.CONTIG_HEADER_START) ) { - final VCFContigHeaderLine contig = new VCFContigHeaderLine(str.substring(9), version, VCFConstants.CONTIG_HEADER_START.substring(2), contigCounter++); - metaData.add(contig); - } else if ( str.startsWith(VCFConstants.ALT_HEADER_START) ) { - final VCFSimpleHeaderLine alt = new VCFSimpleHeaderLine(str.substring(6), version, VCFConstants.ALT_HEADER_START.substring(2), Arrays.asList("ID", "Description")); - metaData.add(alt); - } else { - int equals = str.indexOf("="); - if ( equals != -1 ) - metaData.add(new VCFHeaderLine(str.substring(2, equals), str.substring(equals+1))); - } - } - } - - this.header = new VCFHeader(metaData, sampleNames); - if ( doOnTheFlyModifications ) - this.header = VCFStandardHeaderLines.repairStandardHeaderLines(this.header); - return this.header; - } - - /** - * the fast decode function - * @param line the line of text for the record - * @return a feature, (not guaranteed complete) that has the correct start and stop - */ - public Feature decodeLoc(String line) { - return decodeLine(line, false); - } - - /** - * decode the line into a feature (VariantContext) - * @param line the line - * @return a VariantContext - */ - public VariantContext decode(String line) { - return decodeLine(line, true); - } - - private final VariantContext decodeLine(final String line, final boolean includeGenotypes) { - // the same line reader is not used for parsing the header and parsing lines, if we see a #, we've seen a header line - if (line.startsWith(VCFHeader.HEADER_INDICATOR)) return null; - - // our header cannot be null, we need the genotype sample names and counts - if (header == null) throw new TribbleException("VCF Header cannot be null when decoding a record"); - - if (parts == null) - parts = new String[Math.min(header.getColumnCount(), NUM_STANDARD_FIELDS+1)]; - - int nParts = ParsingUtils.split(line, parts, VCFConstants.FIELD_SEPARATOR_CHAR, true); - - // if we have don't have a header, or we have a header with no genotyping data check that we have eight columns. Otherwise check that we have nine (normal colummns + genotyping data) - if (( (header == null || !header.hasGenotypingData()) && nParts != NUM_STANDARD_FIELDS) || - (header != null && header.hasGenotypingData() && nParts != (NUM_STANDARD_FIELDS + 1)) ) - throw new TribbleException("Line " + lineNo + ": there aren't enough columns for line " + line + " (we expected " + (header == null ? NUM_STANDARD_FIELDS : NUM_STANDARD_FIELDS + 1) + - " tokens, and saw " + nParts + " )"); - - return parseVCFLine(parts, includeGenotypes); - } - - /** - * parse out the VCF line - * - * @param parts the parts split up - * @return a variant context object - */ - private VariantContext parseVCFLine(final String[] parts, final boolean includeGenotypes) { - VariantContextBuilder builder = new VariantContextBuilder(); - builder.source(getName()); - - // increment the line count - // TODO -- because of the way the engine utilizes Tribble, we can parse a line multiple times (especially when - // TODO -- the first record is far along the contig) and the line counter can get out of sync - lineNo++; - - // parse out the required fields - final String chr = getCachedString(parts[0]); - builder.chr(chr); - int pos = -1; - try { - pos = Integer.valueOf(parts[1]); - } catch (NumberFormatException e) { - generateException(parts[1] + " is not a valid start position in the VCF format"); - } - builder.start(pos); - - if ( parts[2].length() == 0 ) - generateException("The VCF specification requires a valid ID field"); - else if ( parts[2].equals(VCFConstants.EMPTY_ID_FIELD) ) - builder.noID(); - else - builder.id(parts[2]); - - final String ref = getCachedString(parts[3].toUpperCase()); - final String alts = getCachedString(parts[4].toUpperCase()); - builder.log10PError(parseQual(parts[5])); - - final List filters = parseFilters(getCachedString(parts[6])); - if ( filters != null ) builder.filters(new HashSet(filters)); - final Map attrs = parseInfo(parts[7]); - builder.attributes(attrs); - - if ( attrs.containsKey(VCFConstants.END_KEY) ) { - // update stop with the end key if provided - try { - builder.stop(Integer.valueOf(attrs.get(VCFConstants.END_KEY).toString())); - } catch (Exception e) { - generateException("the END value in the INFO field is not valid"); - } - } else { - builder.stop(pos + ref.length() - 1); - } - - // get our alleles, filters, and setup an attribute map - final List alleles = parseAlleles(ref, alts, lineNo); - builder.alleles(alleles); - - // do we have genotyping data - if (parts.length > NUM_STANDARD_FIELDS && includeGenotypes) { - final LazyGenotypesContext.LazyParser lazyParser = new LazyVCFGenotypesParser(alleles, chr, pos); - final int nGenotypes = header.getNGenotypeSamples(); - LazyGenotypesContext lazy = new LazyGenotypesContext(lazyParser, parts[8], nGenotypes); - - // did we resort the sample names? If so, we need to load the genotype data - if ( !header.samplesWereAlreadySorted() ) - lazy.decode(); - - builder.genotypesNoValidation(lazy); - } - - VariantContext vc = null; - try { - vc = builder.make(); - } catch (Exception e) { - generateException(e.getMessage()); - } - - return vc; - } - - /** - * get the name of this codec - * @return our set name - */ - public String getName() { - return name; - } - - /** - * set the name of this codec - * @param name new name - */ - public void setName(String name) { - this.name = name; - } - - /** - * Return a cached copy of the supplied string. - * - * @param str string - * @return interned string - */ - protected String getCachedString(String str) { - String internedString = stringCache.get(str); - if ( internedString == null ) { - internedString = new String(str); - stringCache.put(internedString, internedString); - } - return internedString; - } - - /** - * parse out the info fields - * @param infoField the fields - * @return a mapping of keys to objects - */ - private Map parseInfo(String infoField) { - Map attributes = new HashMap(); - - if ( infoField.length() == 0 ) - generateException("The VCF specification requires a valid info field"); - - if ( !infoField.equals(VCFConstants.EMPTY_INFO_FIELD) ) { - if ( infoField.indexOf("\t") != -1 || infoField.indexOf(" ") != -1 ) - generateException("The VCF specification does not allow for whitespace in the INFO field"); - - int infoFieldSplitSize = ParsingUtils.split(infoField, infoFieldArray, VCFConstants.INFO_FIELD_SEPARATOR_CHAR, false); - for (int i = 0; i < infoFieldSplitSize; i++) { - String key; - Object value; - - int eqI = infoFieldArray[i].indexOf("="); - if ( eqI != -1 ) { - key = infoFieldArray[i].substring(0, eqI); - String valueString = infoFieldArray[i].substring(eqI+1); - - // split on the INFO field separator - int infoValueSplitSize = ParsingUtils.split(valueString, infoValueArray, VCFConstants.INFO_FIELD_ARRAY_SEPARATOR_CHAR, false); - if ( infoValueSplitSize == 1 ) { - value = infoValueArray[0]; - final VCFInfoHeaderLine headerLine = header.getInfoHeaderLine(key); - if ( headerLine != null && headerLine.getType() == VCFHeaderLineType.Flag && value.equals("0") ) { - // deal with the case where a flag field has =0, such as DB=0, by skipping the add - continue; - } - } else { - ArrayList valueList = new ArrayList(infoValueSplitSize); - for ( int j = 0; j < infoValueSplitSize; j++ ) - valueList.add(infoValueArray[j]); - value = valueList; - } - } else { - key = infoFieldArray[i]; - final VCFInfoHeaderLine headerLine = header.getInfoHeaderLine(key); - if ( headerLine != null && headerLine.getType() != VCFHeaderLineType.Flag ) { - if ( GeneralUtils.DEBUG_MODE_ENABLED && ! warnedAboutNoEqualsForNonFlag ) { - System.err.println("Found info key " + key + " without a = value, but the header says the field is of type " - + headerLine.getType() + " but this construct is only value for FLAG type fields"); - warnedAboutNoEqualsForNonFlag = true; - } - - value = VCFConstants.MISSING_VALUE_v4; - } else { - value = true; - } - } - - // this line ensures that key/value pairs that look like key=; are parsed correctly as MISSING - if ( "".equals(value) ) value = VCFConstants.MISSING_VALUE_v4; - - attributes.put(key, value); - } - } - - return attributes; - } - - /** - * create a an allele from an index and an array of alleles - * @param index the index - * @param alleles the alleles - * @return an Allele - */ - protected static Allele oneAllele(String index, List alleles) { - if ( index.equals(VCFConstants.EMPTY_ALLELE) ) - return Allele.NO_CALL; - final int i; - try { - i = Integer.valueOf(index); - } catch ( NumberFormatException e ) { - throw new TribbleException.InternalCodecException("The following invalid GT allele index was encountered in the file: " + index); - } - if ( i >= alleles.size() ) - throw new TribbleException.InternalCodecException("The allele with index " + index + " is not defined in the REF/ALT columns in the record"); - return alleles.get(i); - } - - - /** - * parse genotype alleles from the genotype string - * @param GT GT string - * @param alleles list of possible alleles - * @param cache cache of alleles for GT - * @return the allele list for the GT string - */ - protected static List parseGenotypeAlleles(String GT, List alleles, Map> cache) { - // cache results [since they are immutable] and return a single object for each genotype - List GTAlleles = cache.get(GT); - - if ( GTAlleles == null ) { - StringTokenizer st = new StringTokenizer(GT, VCFConstants.PHASING_TOKENS); - GTAlleles = new ArrayList(st.countTokens()); - while ( st.hasMoreTokens() ) { - String genotype = st.nextToken(); - GTAlleles.add(oneAllele(genotype, alleles)); - } - cache.put(GT, GTAlleles); - } - - return GTAlleles; - } - - /** - * parse out the qual value - * @param qualString the quality string - * @return return a double - */ - protected static Double parseQual(String qualString) { - // if we're the VCF 4 missing char, return immediately - if ( qualString.equals(VCFConstants.MISSING_VALUE_v4)) - return VariantContext.NO_LOG10_PERROR; - - Double val = Double.valueOf(qualString); - - // check to see if they encoded the missing qual score in VCF 3 style, with either the -1 or -1.0. check for val < 0 to save some CPU cycles - if ((val < 0) && (Math.abs(val - VCFConstants.MISSING_QUALITY_v3_DOUBLE) < VCFConstants.VCF_ENCODING_EPSILON)) - return VariantContext.NO_LOG10_PERROR; - - // scale and return the value - return val / -10.0; - } - - /** - * parse out the alleles - * @param ref the reference base - * @param alts a string of alternates to break into alleles - * @param lineNo the line number for this record - * @return a list of alleles, and a pair of the shortest and longest sequence - */ - protected static List parseAlleles(String ref, String alts, int lineNo) { - List alleles = new ArrayList(2); // we are almost always biallelic - // ref - checkAllele(ref, true, lineNo); - Allele refAllele = Allele.create(ref, true); - alleles.add(refAllele); - - if ( alts.indexOf(",") == -1 ) // only 1 alternatives, don't call string split - parseSingleAltAllele(alleles, alts, lineNo); - else - for ( String alt : alts.split(",") ) - parseSingleAltAllele(alleles, alt, lineNo); - - return alleles; - } - - /** - * check to make sure the allele is an acceptable allele - * @param allele the allele to check - * @param isRef are we the reference allele? - * @param lineNo the line number for this record - */ - private static void checkAllele(String allele, boolean isRef, int lineNo) { - if ( allele == null || allele.length() == 0 ) - generateException("Empty alleles are not permitted in VCF records", lineNo); - - if ( GeneralUtils.DEBUG_MODE_ENABLED && MAX_ALLELE_SIZE_BEFORE_WARNING != -1 && allele.length() > MAX_ALLELE_SIZE_BEFORE_WARNING ) { - System.err.println(String.format("Allele detected with length %d exceeding max size %d at approximately line %d, likely resulting in degraded VCF processing performance", allele.length(), MAX_ALLELE_SIZE_BEFORE_WARNING, lineNo)); - } - - if ( isSymbolicAllele(allele) ) { - if ( isRef ) { - generateException("Symbolic alleles not allowed as reference allele: " + allele, lineNo); - } - } else { - // check for VCF3 insertions or deletions - if ( (allele.charAt(0) == VCFConstants.DELETION_ALLELE_v3) || (allele.charAt(0) == VCFConstants.INSERTION_ALLELE_v3) ) - generateException("Insertions/Deletions are not supported when reading 3.x VCF's. Please" + - " convert your file to VCF4 using VCFTools, available at http://vcftools.sourceforge.net/index.html", lineNo); - - if (!Allele.acceptableAlleleBases(allele)) - generateException("Unparsable vcf record with allele " + allele, lineNo); - - if ( isRef && allele.equals(VCFConstants.EMPTY_ALLELE) ) - generateException("The reference allele cannot be missing", lineNo); - } - } - - /** - * return true if this is a symbolic allele (e.g. ) or - * structural variation breakend (with [ or ]), otherwise false - * @param allele the allele to check - * @return true if the allele is a symbolic allele, otherwise false - */ - private static boolean isSymbolicAllele(String allele) { - return (allele != null && allele.length() > 2 && - ((allele.startsWith("<") && allele.endsWith(">")) || - (allele.contains("[") || allele.contains("]")))); - } - - /** - * parse a single allele, given the allele list - * @param alleles the alleles available - * @param alt the allele to parse - * @param lineNo the line number for this record - */ - private static void parseSingleAltAllele(List alleles, String alt, int lineNo) { - checkAllele(alt, false, lineNo); - - Allele allele = Allele.create(alt, false); - if ( ! allele.isNoCall() ) - alleles.add(allele); - } - - public final static boolean canDecodeFile(final String potentialInput, final String MAGIC_HEADER_LINE) { - try { - return isVCFStream(new FileInputStream(potentialInput), MAGIC_HEADER_LINE) || - isVCFStream(new GZIPInputStream(new FileInputStream(potentialInput)), MAGIC_HEADER_LINE) || - isVCFStream(new BlockCompressedInputStream(new FileInputStream(potentialInput)), MAGIC_HEADER_LINE); - } catch ( FileNotFoundException e ) { - return false; - } catch ( IOException e ) { - return false; - } - } - - private final static boolean isVCFStream(final InputStream stream, final String MAGIC_HEADER_LINE) { - try { - byte[] buff = new byte[MAGIC_HEADER_LINE.length()]; - int nread = stream.read(buff, 0, MAGIC_HEADER_LINE.length()); - boolean eq = Arrays.equals(buff, MAGIC_HEADER_LINE.getBytes()); - return eq; -// String firstLine = new String(buff); -// return firstLine.startsWith(MAGIC_HEADER_LINE); - } catch ( IOException e ) { - return false; - } catch ( RuntimeException e ) { - return false; - } finally { - try { stream.close(); } catch ( IOException e ) {} - } - } - - - /** - * create a genotype map - * - * @param str the string - * @param alleles the list of alleles - * @return a mapping of sample name to genotype object - */ - public LazyGenotypesContext.LazyData createGenotypeMap(final String str, - final List alleles, - final String chr, - final int pos) { - if (genotypeParts == null) - genotypeParts = new String[header.getColumnCount() - NUM_STANDARD_FIELDS]; - - int nParts = ParsingUtils.split(str, genotypeParts, VCFConstants.FIELD_SEPARATOR_CHAR); - if ( nParts != genotypeParts.length ) - generateException("there are " + (nParts-1) + " genotypes while the header requires that " + (genotypeParts.length-1) + " genotypes be present for all records at " + chr + ":" + pos, lineNo); - - ArrayList genotypes = new ArrayList(nParts); - - // get the format keys - int nGTKeys = ParsingUtils.split(genotypeParts[0], genotypeKeyArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); - - // cycle through the sample names - Iterator sampleNameIterator = header.getGenotypeSamples().iterator(); - - // clear out our allele mapping - alleleMap.clear(); - - // cycle through the genotype strings - for (int genotypeOffset = 1; genotypeOffset < nParts; genotypeOffset++) { - int GTValueSplitSize = ParsingUtils.split(genotypeParts[genotypeOffset], GTValueArray, VCFConstants.GENOTYPE_FIELD_SEPARATOR_CHAR); - - final String sampleName = sampleNameIterator.next(); - final GenotypeBuilder gb = new GenotypeBuilder(sampleName); - - // check to see if the value list is longer than the key list, which is a problem - if (nGTKeys < GTValueSplitSize) - generateException("There are too many keys for the sample " + sampleName + ", keys = " + parts[8] + ", values = " + parts[genotypeOffset]); - - int genotypeAlleleLocation = -1; - if (nGTKeys >= 1) { - gb.maxAttributes(nGTKeys - 1); - - for (int i = 0; i < nGTKeys; i++) { - final String gtKey = genotypeKeyArray[i]; - boolean missing = i >= GTValueSplitSize; - - // todo -- all of these on the fly parsing of the missing value should be static constants - if (gtKey.equals(VCFConstants.GENOTYPE_KEY)) { - genotypeAlleleLocation = i; - } else if ( missing ) { - // if its truly missing (there no provided value) skip adding it to the attributes - } else if (gtKey.equals(VCFConstants.GENOTYPE_FILTER_KEY)) { - final List filters = parseFilters(getCachedString(GTValueArray[i])); - if ( filters != null ) gb.filters(filters); - } else if ( GTValueArray[i].equals(VCFConstants.MISSING_VALUE_v4) ) { - // don't add missing values to the map - } else { - if (gtKey.equals(VCFConstants.GENOTYPE_QUALITY_KEY)) { - if ( GTValueArray[i].equals(VCFConstants.MISSING_GENOTYPE_QUALITY_v3) ) - gb.noGQ(); - else - gb.GQ((int)Math.round(Double.valueOf(GTValueArray[i]))); - } else if (gtKey.equals(VCFConstants.GENOTYPE_ALLELE_DEPTHS)) { - gb.AD(decodeInts(GTValueArray[i])); - } else if (gtKey.equals(VCFConstants.GENOTYPE_PL_KEY)) { - gb.PL(decodeInts(GTValueArray[i])); - } else if (gtKey.equals(VCFConstants.GENOTYPE_LIKELIHOODS_KEY)) { - gb.PL(GenotypeLikelihoods.fromGLField(GTValueArray[i]).getAsPLs()); - } else if (gtKey.equals(VCFConstants.DEPTH_KEY)) { - gb.DP(Integer.valueOf(GTValueArray[i])); - } else { - gb.attribute(gtKey, GTValueArray[i]); - } - } - } - } - - // check to make sure we found a genotype field if our version is less than 4.1 file - if ( version != VCFHeaderVersion.VCF4_1 && genotypeAlleleLocation == -1 ) - generateException("Unable to find the GT field for the record; the GT field is required in VCF4.0"); - if ( genotypeAlleleLocation > 0 ) - generateException("Saw GT field at position " + genotypeAlleleLocation + ", but it must be at the first position for genotypes when present"); - - final List GTalleles = (genotypeAlleleLocation == -1 ? new ArrayList(0) : parseGenotypeAlleles(GTValueArray[genotypeAlleleLocation], alleles, alleleMap)); - gb.alleles(GTalleles); - gb.phased(genotypeAlleleLocation != -1 && GTValueArray[genotypeAlleleLocation].indexOf(VCFConstants.PHASED) != -1); - - // add it to the list - try { - genotypes.add(gb.make()); - } catch (TribbleException e) { - throw new TribbleException.InternalCodecException(e.getMessage() + ", at position " + chr+":"+pos); - } - } - - return new LazyGenotypesContext.LazyData(genotypes, header.getSampleNamesInOrder(), header.getSampleNameToOffset()); - } - - - private final static String[] INT_DECODE_ARRAY = new String[10000]; - private final static int[] decodeInts(final String string) { - final int nValues = ParsingUtils.split(string, INT_DECODE_ARRAY, ','); - final int[] values = new int[nValues]; - for ( int i = 0; i < nValues; i++ ) - values[i] = Integer.valueOf(INT_DECODE_ARRAY[i]); - return values; - } - - /** - * Forces all VCFCodecs to not perform any on the fly modifications to the VCF header - * of VCF records. Useful primarily for raw comparisons such as when comparing - * raw VCF records - */ - public final void disableOnTheFlyModifications() { - doOnTheFlyModifications = false; - } - - - protected void generateException(String message) { - throw new TribbleException(String.format("The provided VCF file is malformed at approximately line number %d: %s", lineNo, message)); - } - - protected static void generateException(String message, int lineNo) { - throw new TribbleException(String.format("The provided VCF file is malformed at approximately line number %d: %s", lineNo, message)); - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCF3Codec.java b/public/java/src/org/broadinstitute/variant/vcf/VCF3Codec.java deleted file mode 100644 index 5e2cfb2b9..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCF3Codec.java +++ /dev/null @@ -1,138 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; -import org.broad.tribble.readers.LineReader; - -import java.io.IOException; -import java.util.*; - - -/** - * A feature codec for the VCF3 specification, to read older VCF files. VCF3 has been - * depreciated in favor of VCF4 (See VCF codec for the latest information) - * - *

    - * Reads historical VCF3 encoded files (1000 Genomes Pilot results, for example) - *

    - * - *

    - * See also: @see VCF specification
    - * See also: @see VCF spec. publication - *

    - * - * @author Mark DePristo - * @since 2010 - */ -public class VCF3Codec extends AbstractVCFCodec { - public final static String VCF3_MAGIC_HEADER = "##fileformat=VCFv3"; - - - /** - * @param reader the line reader to take header lines from - * @return the number of header lines - */ - public Object readHeader(LineReader reader) { - List headerStrings = new ArrayList(); - - String line; - VCFHeaderVersion version = null; - try { - boolean foundHeaderVersion = false; - while ((line = reader.readLine()) != null) { - lineNo++; - if (line.startsWith(VCFHeader.METADATA_INDICATOR)) { - String[] lineFields = line.substring(2).split("="); - if (lineFields.length == 2 && VCFHeaderVersion.isFormatString(lineFields[0]) ) { - if ( !VCFHeaderVersion.isVersionString(lineFields[1]) ) - throw new TribbleException.InvalidHeader(lineFields[1] + " is not a supported version"); - foundHeaderVersion = true; - version = VCFHeaderVersion.toHeaderVersion(lineFields[1]); - if ( version != VCFHeaderVersion.VCF3_3 && version != VCFHeaderVersion.VCF3_2 ) - throw new TribbleException.InvalidHeader("This codec is strictly for VCFv3 and does not support " + lineFields[1]); - } - headerStrings.add(line); - } - else if (line.startsWith(VCFHeader.HEADER_INDICATOR)) { - if (!foundHeaderVersion) { - throw new TribbleException.InvalidHeader("We never saw a header line specifying VCF version"); - } - headerStrings.add(line); - return super.parseHeaderFromLines(headerStrings, version); - } - else { - throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); - } - - } - } catch (IOException e) { - throw new RuntimeException("IO Exception ", e); - } - throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); - } - - - /** - * parse the filter string, first checking to see if we already have parsed it in a previous attempt - * @param filterString the string to parse - * @return a set of the filters applied - */ - protected List parseFilters(String filterString) { - - // null for unfiltered - if ( filterString.equals(VCFConstants.UNFILTERED) ) - return null; - - // empty set for passes filters - List fFields = new ArrayList(); - - if ( filterString.equals(VCFConstants.PASSES_FILTERS_v3) ) - return new ArrayList(fFields); - - if ( filterString.length() == 0 ) - generateException("The VCF specification requires a valid filter status"); - - // do we have the filter string cached? - if ( filterHash.containsKey(filterString) ) - return new ArrayList(filterHash.get(filterString)); - - // otherwise we have to parse and cache the value - if ( filterString.indexOf(VCFConstants.FILTER_CODE_SEPARATOR) == -1 ) - fFields.add(filterString); - else - fFields.addAll(Arrays.asList(filterString.split(VCFConstants.FILTER_CODE_SEPARATOR))); - - filterHash.put(filterString, fFields); - - return fFields; - } - - @Override - public boolean canDecode(final String potentialInput) { - return canDecodeFile(potentialInput, VCF3_MAGIC_HEADER); - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFCodec.java b/public/java/src/org/broadinstitute/variant/vcf/VCFCodec.java deleted file mode 100644 index adb8b0842..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFCodec.java +++ /dev/null @@ -1,159 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; -import org.broad.tribble.readers.LineReader; - -import java.io.IOException; -import java.util.*; - -/** - * A feature codec for the VCF 4 specification - * - *

    - * VCF is a text file format (most likely stored in a compressed manner). It contains meta-information lines, a - * header line, and then data lines each containing information about a position in the genome. - *

    - *

    One of the main uses of next-generation sequencing is to discover variation amongst large populations - * of related samples. Recently the format for storing next-generation read alignments has been - * standardised by the SAM/BAM file format specification. This has significantly improved the - * interoperability of next-generation tools for alignment, visualisation, and variant calling. - * We propose the Variant Call Format (VCF) as a standarised format for storing the most prevalent - * types of sequence variation, including SNPs, indels and larger structural variants, together - * with rich annotations. VCF is usually stored in a compressed manner and can be indexed for - * fast data retrieval of variants from a range of positions on the reference genome. - * The format was developed for the 1000 Genomes Project, and has also been adopted by other projects - * such as UK10K, dbSNP, or the NHLBI Exome Project. VCFtools is a software suite that implements - * various utilities for processing VCF files, including validation, merging and comparing, - * and also provides a general Perl and Python API. - * The VCF specification and VCFtools are available from http://vcftools.sourceforge.net.

    - * - *

    - * See also: @see VCF specification
    - * See also: @see VCF spec. publication - *

    - * - *

    File format example

    - * 
    - *     ##fileformat=VCFv4.0
- *     #CHROM  POS     ID      REF     ALT     QUAL    FILTER  INFO    FORMAT  NA12878
- *     chr1    109     .       A       T       0       PASS  AC=1    GT:AD:DP:GL:GQ  0/1:610,327:308:-316.30,-95.47,-803.03:99
- *     chr1    147     .       C       A       0       PASS  AC=1    GT:AD:DP:GL:GQ  0/1:294,49:118:-57.87,-34.96,-338.46:99
- *
    - * - * @author Mark DePristo - * @since 2010 - */ -public class VCFCodec extends AbstractVCFCodec { - // Our aim is to read in the records and convert to VariantContext as quickly as possible, relying on VariantContext to do the validation of any contradictory (or malformed) record parameters. - public final static String VCF4_MAGIC_HEADER = "##fileformat=VCFv4"; - - /** - * @param reader the line reader to take header lines from - * @return the number of header lines - */ - public Object readHeader(LineReader reader) { - List headerStrings = new ArrayList(); - - String line; - try { - boolean foundHeaderVersion = false; - while ((line = reader.readLine()) != null) { - lineNo++; - if (line.startsWith(VCFHeader.METADATA_INDICATOR)) { - String[] lineFields = line.substring(2).split("="); - if (lineFields.length == 2 && VCFHeaderVersion.isFormatString(lineFields[0]) ) { - if ( !VCFHeaderVersion.isVersionString(lineFields[1]) ) - throw new TribbleException.InvalidHeader(lineFields[1] + " is not a supported version"); - foundHeaderVersion = true; - version = VCFHeaderVersion.toHeaderVersion(lineFields[1]); - if ( version == VCFHeaderVersion.VCF3_3 || version == VCFHeaderVersion.VCF3_2 ) - throw new TribbleException.InvalidHeader("This codec is strictly for VCFv4; please use the VCF3 codec for " + lineFields[1]); - if ( version != VCFHeaderVersion.VCF4_0 && version != VCFHeaderVersion.VCF4_1 ) - throw new TribbleException.InvalidHeader("This codec is strictly for VCFv4 and does not support " + lineFields[1]); - } - headerStrings.add(line); - } - else if (line.startsWith(VCFHeader.HEADER_INDICATOR)) { - if (!foundHeaderVersion) { - throw new TribbleException.InvalidHeader("We never saw a header line specifying VCF version"); - } - headerStrings.add(line); - super.parseHeaderFromLines(headerStrings, version); - return this.header; - } - else { - throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); - } - - } - } catch (IOException e) { - throw new RuntimeException("IO Exception ", e); - } - throw new TribbleException.InvalidHeader("We never saw the required CHROM header line (starting with one #) for the input VCF file"); - } - - /** - * parse the filter string, first checking to see if we already have parsed it in a previous attempt - * - * @param filterString the string to parse - * @return a set of the filters applied or null if filters were not applied to the record (e.g. as per the missing value in a VCF) - */ - protected List parseFilters(String filterString) { - // null for unfiltered - if ( filterString.equals(VCFConstants.UNFILTERED) ) - return null; - - if ( filterString.equals(VCFConstants.PASSES_FILTERS_v4) ) - return Collections.emptyList(); - if ( filterString.equals(VCFConstants.PASSES_FILTERS_v3) ) - generateException(VCFConstants.PASSES_FILTERS_v3 + " is an invalid filter name in vcf4", lineNo); - if ( filterString.length() == 0 ) - generateException("The VCF specification requires a valid filter status: filter was " + filterString, lineNo); - - // do we have the filter string cached? - if ( filterHash.containsKey(filterString) ) - return filterHash.get(filterString); - - // empty set for passes filters - List fFields = new LinkedList(); - // otherwise we have to parse and cache the value - if ( !filterString.contains(VCFConstants.FILTER_CODE_SEPARATOR) ) - fFields.add(filterString); - else - fFields.addAll(Arrays.asList(filterString.split(VCFConstants.FILTER_CODE_SEPARATOR))); - - filterHash.put(filterString, Collections.unmodifiableList(fFields)); - - return fFields; - } - - @Override - public boolean canDecode(final String potentialInput) { - return canDecodeFile(potentialInput, VCF4_MAGIC_HEADER); - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFCompoundHeaderLine.java b/public/java/src/org/broadinstitute/variant/vcf/VCFCompoundHeaderLine.java deleted file mode 100644 index 3fc790f80..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFCompoundHeaderLine.java +++ /dev/null @@ -1,258 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.variantcontext.GenotypeLikelihoods; -import org.broadinstitute.variant.variantcontext.VariantContext; - -import java.util.Arrays; -import java.util.LinkedHashMap; -import java.util.Map; - -/** - * a base class for compound header lines, which include info lines and format lines (so far) - */ -public abstract class VCFCompoundHeaderLine extends VCFHeaderLine implements VCFIDHeaderLine { - - public enum SupportedHeaderLineType { - INFO(true), FORMAT(false); - - public final boolean allowFlagValues; - SupportedHeaderLineType(boolean flagValues) { - allowFlagValues = flagValues; - } - } - - // the field types - private String name; - private int count = -1; - private VCFHeaderLineCount countType; - private String description; - private VCFHeaderLineType type; - - // access methods - public String getID() { return name; } - public String getDescription() { return description; } - public VCFHeaderLineType getType() { return type; } - public VCFHeaderLineCount getCountType() { return countType; } - public boolean isFixedCount() { return countType == VCFHeaderLineCount.INTEGER; } - public int getCount() { - if ( ! isFixedCount() ) - throw new TribbleException("Asking for header line count when type is not an integer"); - return count; - } - - /** - * Get the number of values expected for this header field, given the properties of VariantContext vc - * - * If the count is a fixed count, return that. For example, a field with size of 1 in the header returns 1 - * If the count is of type A, return vc.getNAlleles - 1 - * If the count is of type G, return the expected number of genotypes given the number of alleles in VC and the - * max ploidy among all samples. Note that if the max ploidy of the VC is 0 (there's no GT information - * at all, then implicitly assume diploid samples when computing G values. - * If the count is UNBOUNDED return -1 - * - * @param vc - * @return - */ - public int getCount(final VariantContext vc) { - switch ( countType ) { - case INTEGER: return count; - case UNBOUNDED: return -1; - case A: return vc.getNAlleles() - 1; - case G: - final int ploidy = vc.getMaxPloidy(2); - return GenotypeLikelihoods.numLikelihoods(vc.getNAlleles(), ploidy); - default: - throw new TribbleException("Unknown count type: " + countType); - } - } - - public void setNumberToUnbounded() { - countType = VCFHeaderLineCount.UNBOUNDED; - count = -1; - } - - // our type of line, i.e. format, info, etc - private final SupportedHeaderLineType lineType; - - /** - * create a VCF format header line - * - * @param name the name for this header line - * @param count the count for this header line - * @param type the type for this header line - * @param description the description for this header line - * @param lineType the header line type - */ - protected VCFCompoundHeaderLine(String name, int count, VCFHeaderLineType type, String description, SupportedHeaderLineType lineType) { - super(lineType.toString(), ""); - this.name = name; - this.countType = VCFHeaderLineCount.INTEGER; - this.count = count; - this.type = type; - this.description = description; - this.lineType = lineType; - validate(); - } - - /** - * create a VCF format header line - * - * @param name the name for this header line - * @param count the count type for this header line - * @param type the type for this header line - * @param description the description for this header line - * @param lineType the header line type - */ - protected VCFCompoundHeaderLine(String name, VCFHeaderLineCount count, VCFHeaderLineType type, String description, SupportedHeaderLineType lineType) { - super(lineType.toString(), ""); - this.name = name; - this.countType = count; - this.type = type; - this.description = description; - this.lineType = lineType; - validate(); - } - - /** - * create a VCF format header line - * - * @param line the header line - * @param version the VCF header version - * @param lineType the header line type - * - */ - protected VCFCompoundHeaderLine(String line, VCFHeaderVersion version, SupportedHeaderLineType lineType) { - super(lineType.toString(), ""); - Map mapping = VCFHeaderLineTranslator.parseLine(version,line, Arrays.asList("ID","Number","Type","Description")); - name = mapping.get("ID"); - count = -1; - final String numberStr = mapping.get("Number"); - if ( numberStr.equals(VCFConstants.PER_ALLELE_COUNT) ) { - countType = VCFHeaderLineCount.A; - } else if ( numberStr.equals(VCFConstants.PER_GENOTYPE_COUNT) ) { - countType = VCFHeaderLineCount.G; - } else if ( ((version == VCFHeaderVersion.VCF4_0 || version == VCFHeaderVersion.VCF4_1) && - numberStr.equals(VCFConstants.UNBOUNDED_ENCODING_v4)) || - ((version == VCFHeaderVersion.VCF3_2 || version == VCFHeaderVersion.VCF3_3) && - numberStr.equals(VCFConstants.UNBOUNDED_ENCODING_v3)) ) { - countType = VCFHeaderLineCount.UNBOUNDED; - } else { - countType = VCFHeaderLineCount.INTEGER; - count = Integer.valueOf(numberStr); - - } - - if ( count < 0 && countType == VCFHeaderLineCount.INTEGER ) - throw new TribbleException.InvalidHeader("Count < 0 for fixed size VCF header field " + name); - - try { - type = VCFHeaderLineType.valueOf(mapping.get("Type")); - } catch (Exception e) { - throw new TribbleException(mapping.get("Type") + " is not a valid type in the VCF specification (note that types are case-sensitive)"); - } - if (type == VCFHeaderLineType.Flag && !allowFlagValues()) - throw new IllegalArgumentException("Flag is an unsupported type for this kind of field"); - - description = mapping.get("Description"); - if ( description == null && ALLOW_UNBOUND_DESCRIPTIONS ) // handle the case where there's no description provided - description = UNBOUND_DESCRIPTION; - - this.lineType = lineType; - - validate(); - } - - private void validate() { - if ( name == null || type == null || description == null || lineType == null ) - throw new IllegalArgumentException(String.format("Invalid VCFCompoundHeaderLine: key=%s name=%s type=%s desc=%s lineType=%s", - super.getKey(), name, type, description, lineType )); - - if ( type == VCFHeaderLineType.Flag && count != 0 ) { - count = 0; - if ( GeneralUtils.DEBUG_MODE_ENABLED ) { - System.err.println("FLAG fields must have a count value of 0, but saw " + count + " for header line " + getID() + ". Changing it to 0 inside the code"); - } - } - } - - /** - * make a string representation of this header line - * @return a string representation - */ - protected String toStringEncoding() { - Map map = new LinkedHashMap(); - map.put("ID", name); - Object number; - switch ( countType ) { - case A: number = VCFConstants.PER_ALLELE_COUNT; break; - case G: number = VCFConstants.PER_GENOTYPE_COUNT; break; - case UNBOUNDED: number = VCFConstants.UNBOUNDED_ENCODING_v4; break; - case INTEGER: - default: number = count; - } - map.put("Number", number); - map.put("Type", type); - map.put("Description", description); - return lineType.toString() + "=" + VCFHeaderLine.toStringEncoding(map); - } - - /** - * returns true if we're equal to another compounder header line - * @param o a compound header line - * @return true if equal - */ - public boolean equals(Object o) { - if ( !(o instanceof VCFCompoundHeaderLine) ) - return false; - VCFCompoundHeaderLine other = (VCFCompoundHeaderLine)o; - return equalsExcludingDescription(other) && - description.equals(other.description); - } - - public boolean equalsExcludingDescription(VCFCompoundHeaderLine other) { - return count == other.count && - countType == other.countType && - type == other.type && - lineType == other.lineType && - name.equals(other.name); - } - - public boolean sameLineTypeAndName(VCFCompoundHeaderLine other) { - return lineType == other.lineType && - name.equals(other.name); - } - - /** - * do we allow flag (boolean) values? (i.e. booleans where you don't have specify the value, AQ means AQ=true) - * @return true if we do, false otherwise - */ - abstract boolean allowFlagValues(); - -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFConstants.java b/public/java/src/org/broadinstitute/variant/vcf/VCFConstants.java deleted file mode 100644 index 41659d735..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFConstants.java +++ /dev/null @@ -1,125 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import java.util.Locale; - -public final class VCFConstants { - public static final Locale VCF_LOCALE = Locale.US; - - // reserved INFO/FORMAT field keys - public static final String ANCESTRAL_ALLELE_KEY = "AA"; - public static final String ALLELE_COUNT_KEY = "AC"; - public static final String MLE_ALLELE_COUNT_KEY = "MLEAC"; - public static final String ALLELE_FREQUENCY_KEY = "AF"; - public static final String MLE_ALLELE_FREQUENCY_KEY = "MLEAF"; - public static final String MLE_PER_SAMPLE_ALLELE_COUNT_KEY = "MLPSAC"; - public static final String MLE_PER_SAMPLE_ALLELE_FRACTION_KEY = "MLPSAF"; - public static final String ALLELE_NUMBER_KEY = "AN"; - public static final String RMS_BASE_QUALITY_KEY = "BQ"; - public static final String CIGAR_KEY = "CIGAR"; - public static final String DBSNP_KEY = "DB"; - public static final String DEPTH_KEY = "DP"; - public static final String DOWNSAMPLED_KEY = "DS"; - public static final String EXPECTED_ALLELE_COUNT_KEY = "EC"; - public static final String END_KEY = "END"; - - public static final String GENOTYPE_FILTER_KEY = "FT"; - public static final String GENOTYPE_KEY = "GT"; - public static final String GENOTYPE_POSTERIORS_KEY = "GP"; - public static final String GENOTYPE_QUALITY_KEY = "GQ"; - public static final String GENOTYPE_ALLELE_DEPTHS = "AD"; - public static final String GENOTYPE_PL_KEY = "PL"; // phred-scaled genotype likelihoods - @Deprecated public static final String GENOTYPE_LIKELIHOODS_KEY = "GL"; // log10 scaled genotype likelihoods - - public static final String HAPMAP2_KEY = "H2"; - public static final String HAPMAP3_KEY = "H3"; - public static final String HAPLOTYPE_QUALITY_KEY = "HQ"; - public static final String RMS_MAPPING_QUALITY_KEY = "MQ"; - public static final String MAPPING_QUALITY_ZERO_KEY = "MQ0"; - public static final String SAMPLE_NUMBER_KEY = "NS"; - public static final String PHASE_QUALITY_KEY = "PQ"; - public static final String PHASE_SET_KEY = "PS"; - public static final String OLD_DEPTH_KEY = "RD"; - public static final String STRAND_BIAS_KEY = "SB"; - public static final String SOMATIC_KEY = "SOMATIC"; - public static final String VALIDATED_KEY = "VALIDATED"; - public static final String THOUSAND_GENOMES_KEY = "1000G"; - - // separators - public static final String FORMAT_FIELD_SEPARATOR = ":"; - public static final String GENOTYPE_FIELD_SEPARATOR = ":"; - public static final char GENOTYPE_FIELD_SEPARATOR_CHAR = ':'; - public static final String FIELD_SEPARATOR = "\t"; - public static final char FIELD_SEPARATOR_CHAR = '\t'; - public static final String FILTER_CODE_SEPARATOR = ";"; - public static final String INFO_FIELD_ARRAY_SEPARATOR = ","; - public static final char INFO_FIELD_ARRAY_SEPARATOR_CHAR = ','; - public static final String ID_FIELD_SEPARATOR = ";"; - public static final String INFO_FIELD_SEPARATOR = ";"; - public static final char INFO_FIELD_SEPARATOR_CHAR = ';'; - public static final String UNPHASED = "/"; - public static final String PHASED = "|"; - public static final String PHASED_SWITCH_PROB_v3 = "\\"; - public static final String PHASING_TOKENS = "/|\\"; - - // header lines - public static final String FILTER_HEADER_START = "##FILTER"; - public static final String FORMAT_HEADER_START = "##FORMAT"; - public static final String INFO_HEADER_START = "##INFO"; - public static final String ALT_HEADER_START = "##ALT"; - public static final String CONTIG_HEADER_KEY = "contig"; - public static final String CONTIG_HEADER_START = "##" + CONTIG_HEADER_KEY; - - // old indel alleles - public static final char DELETION_ALLELE_v3 = 'D'; - public static final char INSERTION_ALLELE_v3 = 'I'; - - // missing/default values - public static final String UNFILTERED = "."; - public static final String PASSES_FILTERS_v3 = "0"; - public static final String PASSES_FILTERS_v4 = "PASS"; - public static final String EMPTY_ID_FIELD = "."; - public static final String EMPTY_INFO_FIELD = "."; - public static final String EMPTY_ALTERNATE_ALLELE_FIELD = "."; - public static final String MISSING_VALUE_v4 = "."; - public static final String MISSING_QUALITY_v3 = "-1"; - public static final Double MISSING_QUALITY_v3_DOUBLE = Double.valueOf(MISSING_QUALITY_v3); - - public static final String MISSING_GENOTYPE_QUALITY_v3 = "-1"; - public static final String MISSING_HAPLOTYPE_QUALITY_v3 = "-1"; - public static final String MISSING_DEPTH_v3 = "-1"; - public static final String UNBOUNDED_ENCODING_v4 = "."; - public static final String UNBOUNDED_ENCODING_v3 = "-1"; - public static final String PER_ALLELE_COUNT = "A"; - public static final String PER_GENOTYPE_COUNT = "G"; - public static final String EMPTY_ALLELE = "."; - public static final String EMPTY_GENOTYPE = "./."; - public static final int MAX_GENOTYPE_QUAL = 99; - - public static final Double VCF_ENCODING_EPSILON = 0.00005; // when we consider fields equal(), used in the Qual compare - public static final String REFSAMPLE_DEPTH_KEY = "REFDEPTH"; -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFContigHeaderLine.java b/public/java/src/org/broadinstitute/variant/vcf/VCFContigHeaderLine.java deleted file mode 100644 index 5e6a73baf..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFContigHeaderLine.java +++ /dev/null @@ -1,74 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import java.util.Map; - -/** - * A special class representing a contig VCF header line. Nows the true contig order and sorts on that - * - * @author mdepristo - */ -public class VCFContigHeaderLine extends VCFSimpleHeaderLine { - final Integer contigIndex; - - - /** - * create a VCF contig header line - * - * @param line the header line - * @param version the vcf header version - * @param key the key for this header line - */ - public VCFContigHeaderLine(final String line, final VCFHeaderVersion version, final String key, int contigIndex) { - super(line, version, key, null); - this.contigIndex = contigIndex; - } - - public VCFContigHeaderLine(final Map mapping, int contigIndex) { - super(VCFHeader.CONTIG_KEY, mapping, null); - this.contigIndex = contigIndex; - } - - public Integer getContigIndex() { - return contigIndex; - } - - /** - * IT IS CRITIAL THAT THIS BE OVERRIDDEN SO WE SORT THE CONTIGS IN THE CORRECT ORDER - * - * @param other - * @return - */ - @Override - public int compareTo(final Object other) { - if ( other instanceof VCFContigHeaderLine ) - return contigIndex.compareTo(((VCFContigHeaderLine) other).contigIndex); - else { - return super.compareTo(other); - } - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFFormatHeaderLine.java b/public/java/src/org/broadinstitute/variant/vcf/VCFFormatHeaderLine.java deleted file mode 100644 index 0e88e0220..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFFormatHeaderLine.java +++ /dev/null @@ -1,57 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - - -/** - * @author ebanks - *

    - * Class VCFFormatHeaderLine - *

    - * A class representing a key=value entry for genotype FORMAT fields in the VCF header - */ -public class VCFFormatHeaderLine extends VCFCompoundHeaderLine { - - public VCFFormatHeaderLine(String name, int count, VCFHeaderLineType type, String description) { - super(name, count, type, description, SupportedHeaderLineType.FORMAT); - if (type == VCFHeaderLineType.Flag) - throw new IllegalArgumentException("Flag is an unsupported type for format fields"); - } - - public VCFFormatHeaderLine(String name, VCFHeaderLineCount count, VCFHeaderLineType type, String description) { - super(name, count, type, description, SupportedHeaderLineType.FORMAT); - } - - public VCFFormatHeaderLine(String line, VCFHeaderVersion version) { - super(line, version, SupportedHeaderLineType.FORMAT); - } - - // format fields do not allow flag values (that wouldn't make much sense, how would you encode this in the genotype). - @Override - boolean allowFlagValues() { - return false; - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFHeader.java b/public/java/src/org/broadinstitute/variant/vcf/VCFHeader.java deleted file mode 100644 index 9d4c4d576..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFHeader.java +++ /dev/null @@ -1,454 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.utils.GeneralUtils; - -import java.util.*; - - -/** - * This class is really a POS. It allows duplicate entries in the metadata, - * stores header lines in lots of places, and all around f*cking sucks. - * - * todo -- clean this POS up - * - * @author aaron - *

    - * Class VCFHeader - *

    - * A class representing the VCF header - */ -public class VCFHeader { - - // the mandatory header fields - public enum HEADER_FIELDS { - CHROM, POS, ID, REF, ALT, QUAL, FILTER, INFO - } - - // the associated meta data - private final Set mMetaData = new LinkedHashSet(); - private final Map mInfoMetaData = new LinkedHashMap(); - private final Map mFormatMetaData = new LinkedHashMap(); - private final Map mFilterMetaData = new LinkedHashMap(); - private final Map mOtherMetaData = new LinkedHashMap(); - private final List contigMetaData = new ArrayList(); - - // the list of auxillary tags - private final List mGenotypeSampleNames = new ArrayList(); - - // the character string that indicates meta data - public static final String METADATA_INDICATOR = "##"; - - // the header string indicator - public static final String HEADER_INDICATOR = "#"; - - public static final String SOURCE_KEY = "source"; - public static final String REFERENCE_KEY = "reference"; - public static final String CONTIG_KEY = "contig"; - public static final String INTERVALS_KEY = "intervals"; - public static final String EXCLUDE_INTERVALS_KEY = "excludeIntervals"; - public static final String INTERVAL_MERGING_KEY = "interval_merging"; - public static final String INTERVAL_SET_RULE_KEY = "interval_set_rule"; - public static final String INTERVAL_PADDING_KEY = "interval_padding"; - - // were the input samples sorted originally (or are we sorting them)? - private boolean samplesWereAlreadySorted = true; - - // cache for efficient conversion of VCF -> VariantContext - private ArrayList sampleNamesInOrder = null; - private HashMap sampleNameToOffset = null; - - private boolean writeEngineHeaders = true; - private boolean writeCommandLine = true; - - /** - * Create an empty VCF header with no header lines and no samples - */ - public VCFHeader() { - this(Collections.emptySet(), Collections.emptySet()); - } - - /** - * create a VCF header, given a list of meta data and auxillary tags - * - * @param metaData the meta data associated with this header - */ - public VCFHeader(Set metaData) { - mMetaData.addAll(metaData); - loadVCFVersion(); - loadMetaDataMaps(); - } - - /** - * Creates a shallow copy of the meta data in VCF header toCopy - * - * @param toCopy - */ - public VCFHeader(final VCFHeader toCopy) { - this(toCopy.mMetaData); - } - - /** - * create a VCF header, given a list of meta data and auxillary tags - * - * @param metaData the meta data associated with this header - * @param genotypeSampleNames the sample names - */ - public VCFHeader(Set metaData, Set genotypeSampleNames) { - this(metaData, new ArrayList(genotypeSampleNames)); - } - - public VCFHeader(Set metaData, List genotypeSampleNames) { - this(metaData); - - if ( genotypeSampleNames.size() != new HashSet(genotypeSampleNames).size() ) - throw new TribbleException.InvalidHeader("BUG: VCF header has duplicate sample names"); - - mGenotypeSampleNames.addAll(genotypeSampleNames); - samplesWereAlreadySorted = ParsingUtils.isSorted(genotypeSampleNames); - buildVCFReaderMaps(genotypeSampleNames); - } - - /** - * Tell this VCF header to use pre-calculated sample name ordering and the - * sample name -> offset map. This assumes that all VariantContext created - * using this header (i.e., read by the VCFCodec) will have genotypes - * occurring in the same order - * - * @param genotypeSampleNamesInAppearenceOrder genotype sample names, must iterator in order of appearence - */ - private void buildVCFReaderMaps(Collection genotypeSampleNamesInAppearenceOrder) { - sampleNamesInOrder = new ArrayList(genotypeSampleNamesInAppearenceOrder.size()); - sampleNameToOffset = new HashMap(genotypeSampleNamesInAppearenceOrder.size()); - - int i = 0; - for ( final String name : genotypeSampleNamesInAppearenceOrder ) { - sampleNamesInOrder.add(name); - sampleNameToOffset.put(name, i++); - } - Collections.sort(sampleNamesInOrder); - } - - - /** - * Adds a header line to the header metadata. - * - * @param headerLine Line to add to the existing metadata component. - */ - public void addMetaDataLine(VCFHeaderLine headerLine) { - mMetaData.add(headerLine); - loadMetaDataMaps(); - } - - /** - * @return all of the VCF header lines of the ##contig form in order, or an empty list if none were present - */ - public List getContigLines() { - return Collections.unmodifiableList(contigMetaData); - } - - - /** - * @return all of the VCF FILTER lines in their original file order, or an empty list if none were present - */ - public List getFilterLines() { - final List filters = new ArrayList(); - for ( VCFHeaderLine line : mMetaData ) { - if ( line instanceof VCFFilterHeaderLine ) { - filters.add((VCFFilterHeaderLine)line); - } - } - return filters; - } - - /** - * @return all of the VCF FILTER lines in their original file order, or an empty list if none were present - */ - public List getIDHeaderLines() { - final List filters = new ArrayList(); - for ( VCFHeaderLine line : mMetaData ) { - if ( line instanceof VCFIDHeaderLine ) { - filters.add((VCFIDHeaderLine)line); - } - } - return filters; - } - - /** - * check our metadata for a VCF version tag, and throw an exception if the version is out of date - * or the version is not present - */ - public void loadVCFVersion() { - List toRemove = new ArrayList(); - for ( VCFHeaderLine line : mMetaData ) - if ( VCFHeaderVersion.isFormatString(line.getKey())) { - toRemove.add(line); - } - // remove old header lines for now, - mMetaData.removeAll(toRemove); - - } - - /** - * load the format/info meta data maps (these are used for quick lookup by key name) - */ - private void loadMetaDataMaps() { - for ( VCFHeaderLine line : mMetaData ) { - if ( line instanceof VCFInfoHeaderLine ) { - VCFInfoHeaderLine infoLine = (VCFInfoHeaderLine)line; - addMetaDataMapBinding(mInfoMetaData, infoLine); - } else if ( line instanceof VCFFormatHeaderLine ) { - VCFFormatHeaderLine formatLine = (VCFFormatHeaderLine)line; - addMetaDataMapBinding(mFormatMetaData, formatLine); - } else if ( line instanceof VCFFilterHeaderLine ) { - VCFFilterHeaderLine filterLine = (VCFFilterHeaderLine)line; - mFilterMetaData.put(filterLine.getID(), filterLine); - } else if ( line instanceof VCFContigHeaderLine ) { - contigMetaData.add((VCFContigHeaderLine)line); - } else { - mOtherMetaData.put(line.getKey(), line); - } - } - - if ( hasFormatLine(VCFConstants.GENOTYPE_LIKELIHOODS_KEY) && ! hasFormatLine(VCFConstants.GENOTYPE_PL_KEY) ) { - if ( GeneralUtils.DEBUG_MODE_ENABLED ) { - System.err.println("Found " + VCFConstants.GENOTYPE_LIKELIHOODS_KEY + " format, but no " - + VCFConstants.GENOTYPE_PL_KEY + " field. We now only manage PL fields internally" - + " automatically adding a corresponding PL field to your VCF header"); - } - addMetaDataLine(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_PL_KEY, VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification")); - } - } - - /** - * Add line to map, issuing warnings about duplicates - * - * @param map - * @param line - * @param - */ - private final void addMetaDataMapBinding(final Map map, T line) { - final String key = line.getID(); - if ( map.containsKey(key) ) { - if ( GeneralUtils.DEBUG_MODE_ENABLED ) { - System.err.println("Found duplicate VCF header lines for " + key + "; keeping the first only" ); - } - } - else { - map.put(key, line); - } - } - - /** - * get the header fields in order they're presented in the input file (which is now required to be - * the order presented in the spec). - * - * @return a set of the header fields, in order - */ - public Set getHeaderFields() { - return new LinkedHashSet(Arrays.asList(HEADER_FIELDS.values())); - } - - /** - * get the meta data, associated with this header, in sorted order - * - * @return a set of the meta data - */ - public Set getMetaDataInInputOrder() { - return makeGetMetaDataSet(mMetaData); - } - - public Set getMetaDataInSortedOrder() { - return makeGetMetaDataSet(new TreeSet(mMetaData)); - } - - private static Set makeGetMetaDataSet(final Set headerLinesInSomeOrder) { - final Set lines = new LinkedHashSet(); - lines.add(new VCFHeaderLine(VCFHeaderVersion.VCF4_1.getFormatString(), VCFHeaderVersion.VCF4_1.getVersionString())); - lines.addAll(headerLinesInSomeOrder); - return Collections.unmodifiableSet(lines); - } - - /** - * Get the VCFHeaderLine whose key equals key. Returns null if no such line exists - * @param key - * @return - */ - public VCFHeaderLine getMetaDataLine(final String key) { - for (final VCFHeaderLine line: mMetaData) { - if ( line.getKey().equals(key) ) - return line; - } - - return null; - } - - /** - * get the genotyping sample names - * - * @return a list of the genotype column names, which may be empty if hasGenotypingData() returns false - */ - public List getGenotypeSamples() { - return mGenotypeSampleNames; - } - - public int getNGenotypeSamples() { - return mGenotypeSampleNames.size(); - } - - /** - * do we have genotyping data? - * - * @return true if we have genotyping columns, false otherwise - */ - public boolean hasGenotypingData() { - return getNGenotypeSamples() > 0; - } - - /** - * were the input samples sorted originally? - * - * @return true if the input samples were sorted originally, false otherwise - */ - public boolean samplesWereAlreadySorted() { - return samplesWereAlreadySorted; - } - - /** @return the column count */ - public int getColumnCount() { - return HEADER_FIELDS.values().length + (hasGenotypingData() ? mGenotypeSampleNames.size() + 1 : 0); - } - - /** - * Returns the INFO HeaderLines in their original ordering - */ - public Collection getInfoHeaderLines() { - return mInfoMetaData.values(); - } - - /** - * Returns the FORMAT HeaderLines in their original ordering - */ - public Collection getFormatHeaderLines() { - return mFormatMetaData.values(); - } - - /** - * @param id the header key name - * @return the meta data line, or null if there is none - */ - public VCFInfoHeaderLine getInfoHeaderLine(String id) { - return mInfoMetaData.get(id); - } - - /** - * @param id the header key name - * @return the meta data line, or null if there is none - */ - public VCFFormatHeaderLine getFormatHeaderLine(String id) { - return mFormatMetaData.get(id); - } - - /** - * @param id the header key name - * @return the meta data line, or null if there is none - */ - public VCFFilterHeaderLine getFilterHeaderLine(final String id) { - return mFilterMetaData.get(id); - } - - public boolean hasInfoLine(final String id) { - return getInfoHeaderLine(id) != null; - } - - public boolean hasFormatLine(final String id) { - return getFormatHeaderLine(id) != null; - } - - public boolean hasFilterLine(final String id) { - return getFilterHeaderLine(id) != null; - } - - /** - * @param key the header key name - * @return the meta data line, or null if there is none - */ - public VCFHeaderLine getOtherHeaderLine(String key) { - return mOtherMetaData.get(key); - } - - /** - * If true additional engine headers will be written to the VCF, otherwise only the walker headers will be output. - * @return true if additional engine headers will be written to the VCF - */ - public boolean isWriteEngineHeaders() { - return writeEngineHeaders; - } - - /** - * If true additional engine headers will be written to the VCF, otherwise only the walker headers will be output. - * @param writeEngineHeaders true if additional engine headers will be written to the VCF - */ - public void setWriteEngineHeaders(boolean writeEngineHeaders) { - this.writeEngineHeaders = writeEngineHeaders; - } - - /** - * If true, and isWriteEngineHeaders also returns true, the command line will be written to the VCF. - * @return true if the command line will be written to the VCF - */ - public boolean isWriteCommandLine() { - return writeCommandLine; - } - - /** - * If true, and isWriteEngineHeaders also returns true, the command line will be written to the VCF. - * @param writeCommandLine true if the command line will be written to the VCF - */ - public void setWriteCommandLine(boolean writeCommandLine) { - this.writeCommandLine = writeCommandLine; - } - - public ArrayList getSampleNamesInOrder() { - return sampleNamesInOrder; - } - - public HashMap getSampleNameToOffset() { - return sampleNameToOffset; - } - - @Override - public String toString() { - final StringBuilder b = new StringBuilder(); - b.append("[VCFHeader:"); - for ( final VCFHeaderLine line : mMetaData ) - b.append("\n\t").append(line); - return b.append("\n]").toString(); - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLine.java b/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLine.java deleted file mode 100644 index d18e310f5..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLine.java +++ /dev/null @@ -1,134 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; - -import java.util.Map; - - -/** - * @author ebanks - *

    - * Class VCFHeaderLine - *

    - * A class representing a key=value entry in the VCF header - */ -public class VCFHeaderLine implements Comparable { - protected static final boolean ALLOW_UNBOUND_DESCRIPTIONS = true; - protected static final String UNBOUND_DESCRIPTION = "Not provided in original VCF header"; - - private String mKey = null; - private String mValue = null; - - - /** - * create a VCF header line - * - * @param key the key for this header line - * @param value the value for this header line - */ - public VCFHeaderLine(String key, String value) { - if ( key == null ) - throw new IllegalArgumentException("VCFHeaderLine: key cannot be null"); - mKey = key; - mValue = value; - } - - /** - * Get the key - * - * @return the key - */ - public String getKey() { - return mKey; - } - - /** - * Get the value - * - * @return the value - */ - public String getValue() { - return mValue; - } - - public String toString() { - return toStringEncoding(); - } - - /** - * Should be overloaded in sub classes to do subclass specific - * - * @return the string encoding - */ - protected String toStringEncoding() { - return mKey + "=" + mValue; - } - - public boolean equals(Object o) { - if ( !(o instanceof VCFHeaderLine) ) - return false; - return mKey.equals(((VCFHeaderLine)o).getKey()) && mValue.equals(((VCFHeaderLine)o).getValue()); - } - - public int compareTo(Object other) { - return toString().compareTo(other.toString()); - } - - /** - * @param line the line - * @return true if the line is a VCF meta data line, or false if it is not - */ - public static boolean isHeaderLine(String line) { - return line != null && line.length() > 0 && VCFHeader.HEADER_INDICATOR.equals(line.substring(0,1)); - } - - /** - * create a string of a mapping pair for the target VCF version - * @param keyValues a mapping of the key->value pairs to output - * @return a string, correctly formatted - */ - public static String toStringEncoding(Map keyValues) { - StringBuilder builder = new StringBuilder(); - builder.append("<"); - boolean start = true; - for (Map.Entry entry : keyValues.entrySet()) { - if (start) start = false; - else builder.append(","); - - if ( entry.getValue() == null ) throw new TribbleException.InternalCodecException("Header problem: unbound value at " + entry + " from " + keyValues); - - builder.append(entry.getKey()); - builder.append("="); - builder.append(entry.getValue().toString().contains(",") || - entry.getValue().toString().contains(" ") || - entry.getKey().equals("Description") ? "\""+ entry.getValue() + "\"" : entry.getValue()); - } - builder.append(">"); - return builder.toString(); - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineCount.java b/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineCount.java deleted file mode 100644 index bae404b6c..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineCount.java +++ /dev/null @@ -1,33 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -/** - * the count encodings we use for fields in VCF header lines - */ -public enum VCFHeaderLineCount { - INTEGER, A, G, UNBOUNDED; -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineTranslator.java b/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineTranslator.java deleted file mode 100644 index 3c2a35d46..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineTranslator.java +++ /dev/null @@ -1,153 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; - -import java.util.*; - -/** - * A class for translating between vcf header versions - */ -public class VCFHeaderLineTranslator { - private static Map mapping; - - static { - mapping = new HashMap(); - mapping.put(VCFHeaderVersion.VCF4_0,new VCF4Parser()); - mapping.put(VCFHeaderVersion.VCF4_1,new VCF4Parser()); - mapping.put(VCFHeaderVersion.VCF3_3,new VCF3Parser()); - mapping.put(VCFHeaderVersion.VCF3_2,new VCF3Parser()); - } - - public static Map parseLine(VCFHeaderVersion version, String valueLine, List expectedTagOrder) { - return mapping.get(version).parseLine(valueLine,expectedTagOrder); - } -} - - -interface VCFLineParser { - public Map parseLine(String valueLine, List expectedTagOrder); -} - - -/** - * a class that handles the to and from disk for VCF 4 lines - */ -class VCF4Parser implements VCFLineParser { - /** - * parse a VCF4 line - * @param valueLine the line - * @return a mapping of the tags parsed out - */ - public Map parseLine(String valueLine, List expectedTagOrder) { - // our return map - Map ret = new LinkedHashMap(); - - // a builder to store up characters as we go - StringBuilder builder = new StringBuilder(); - - // store the key when we're parsing out the values - String key = ""; - - // where are we in the stream of characters? - int index = 0; - - // are we inside a quotation? we don't special case ',' then - boolean inQuote = false; - - // a little switch machine to parse out the tags. Regex ended up being really complicated and ugly [yes, but this machine is getting ugly now... MAD] - for (char c: valueLine.toCharArray()) { - if ( c == '\"' ) { - inQuote = ! inQuote; - } else if ( inQuote ) { - builder.append(c); - } else { - switch (c) { - case ('<') : if (index == 0) break; // if we see a open bracket at the beginning, ignore it - case ('>') : if (index == valueLine.length()-1) ret.put(key,builder.toString().trim()); break; // if we see a close bracket, and we're at the end, add an entry to our list - case ('=') : key = builder.toString().trim(); builder = new StringBuilder(); break; // at an equals, copy the key and reset the builder - case (',') : ret.put(key,builder.toString().trim()); builder = new StringBuilder(); break; // drop the current key value to the return map - default: builder.append(c); // otherwise simply append to the current string - } - } - - index++; - } - - // validate the tags against the expected list - index = 0; - if ( expectedTagOrder != null ) { - if ( ret.size() > expectedTagOrder.size() ) - throw new TribbleException.InvalidHeader("unexpected tag count " + ret.size() + " in line " + valueLine); - for ( String str : ret.keySet() ) { - if ( !expectedTagOrder.get(index).equals(str) ) - throw new TribbleException.InvalidHeader("Unexpected tag " + str + " in line " + valueLine); - index++; - } - } - return ret; - } -} - -class VCF3Parser implements VCFLineParser { - - public Map parseLine(String valueLine, List expectedTagOrder) { - // our return map - Map ret = new LinkedHashMap(); - - // a builder to store up characters as we go - StringBuilder builder = new StringBuilder(); - - // where are we in the stream of characters? - int index = 0; - // where in the expected tag order are we? - int tagIndex = 0; - - // are we inside a quotation? we don't special case ',' then - boolean inQuote = false; - - // a little switch machine to parse out the tags. Regex ended up being really complicated and ugly - for (char c: valueLine.toCharArray()) { - switch (c) { - case ('\"') : inQuote = !inQuote; break; // a quote means we ignore ',' in our strings, keep track of it - case (',') : if (!inQuote) { ret.put(expectedTagOrder.get(tagIndex++),builder.toString()); builder = new StringBuilder(); break; } // drop the current key value to the return map - default: builder.append(c); // otherwise simply append to the current string - } - index++; - } - ret.put(expectedTagOrder.get(tagIndex++),builder.toString()); - - // validate the tags against the expected list - index = 0; - if (tagIndex != expectedTagOrder.size()) throw new IllegalArgumentException("Unexpected tag count " + tagIndex + ", we expected " + expectedTagOrder.size()); - for (String str : ret.keySet()){ - if (!expectedTagOrder.get(index).equals(str)) throw new IllegalArgumentException("Unexpected tag " + str + " in string " + valueLine); - index++; - } - return ret; - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineType.java b/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineType.java deleted file mode 100644 index d2d502ab7..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderLineType.java +++ /dev/null @@ -1,33 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -/** - * the type encodings we use for fields in VCF header lines - */ -public enum VCFHeaderLineType { - Integer, Float, String, Character, Flag; -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderVersion.java b/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderVersion.java deleted file mode 100644 index 35ca45126..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFHeaderVersion.java +++ /dev/null @@ -1,116 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.TribbleException; - -/** - * information that identifies each header version - */ -public enum VCFHeaderVersion { - VCF3_2("VCRv3.2","format"), - VCF3_3("VCFv3.3","fileformat"), - VCF4_0("VCFv4.0","fileformat"), - VCF4_1("VCFv4.1","fileformat"); - - private final String versionString; - private final String formatString; - - /** - * create the enum, privately, using: - * @param vString the version string - * @param fString the format string - */ - VCFHeaderVersion(String vString, String fString) { - this.versionString = vString; - this.formatString = fString; - } - - /** - * get the header version - * @param version the version string - * @return a VCFHeaderVersion object - */ - public static VCFHeaderVersion toHeaderVersion(String version) { - version = clean(version); - for (VCFHeaderVersion hv : VCFHeaderVersion.values()) - if (hv.versionString.equals(version)) - return hv; - return null; - } - - /** - * are we a valid version string of some type - * @param version the version string - * @return true if we're valid of some type, false otherwise - */ - public static boolean isVersionString(String version){ - return toHeaderVersion(version) != null; - } - - /** - * are we a valid format string for some type - * @param format the format string - * @return true if we're valid of some type, false otherwise - */ - public static boolean isFormatString(String format){ - format = clean(format); - for (VCFHeaderVersion hv : VCFHeaderVersion.values()) - if (hv.formatString.equals(format)) - return true; - return false; - } - - public static VCFHeaderVersion getHeaderVersion(String versionLine) { - String[] lineFields = versionLine.split("="); - if ( lineFields.length != 2 || !isFormatString(lineFields[0].substring(2)) ) - throw new TribbleException.InvalidHeader(versionLine + " is not a valid VCF version line"); - - if ( !isVersionString(lineFields[1]) ) - throw new TribbleException.InvalidHeader(lineFields[1] + " is not a supported version"); - - return toHeaderVersion(lineFields[1]); - } - - /** - * Utility function to clean up a VCF header string - * - * @param s string - * @return trimmed version of s - */ - private static String clean(String s) { - return s.trim(); - } - - - public String getVersionString() { - return versionString; - } - - public String getFormatString() { - return formatString; - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFIDHeaderLine.java b/public/java/src/org/broadinstitute/variant/vcf/VCFIDHeaderLine.java deleted file mode 100644 index cdd544076..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFIDHeaderLine.java +++ /dev/null @@ -1,31 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -/** an interface for ID-based header lines **/ -public interface VCFIDHeaderLine { - String getID(); -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFSimpleHeaderLine.java b/public/java/src/org/broadinstitute/variant/vcf/VCFSimpleHeaderLine.java deleted file mode 100644 index 20a973921..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFSimpleHeaderLine.java +++ /dev/null @@ -1,106 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import java.util.LinkedHashMap; -import java.util.List; -import java.util.Map; - - -/** - * @author ebanks - * A class representing a key=value entry for simple VCF header types - */ -public class VCFSimpleHeaderLine extends VCFHeaderLine implements VCFIDHeaderLine { - - private String name; - private Map genericFields = new LinkedHashMap(); - - /** - * create a VCF filter header line - * - * @param key the key for this header line - * @param name the name for this header line - * @param description description for this header line - */ - public VCFSimpleHeaderLine(String key, String name, String description) { - super(key, ""); - Map map = new LinkedHashMap(1); - map.put("Description", description); - initialize(name, map); - } - - /** - * create a VCF info header line - * - * @param line the header line - * @param version the vcf header version - * @param key the key for this header line - * @param expectedTagOrdering the tag ordering expected for this header line - */ - public VCFSimpleHeaderLine(final String line, final VCFHeaderVersion version, final String key, final List expectedTagOrdering) { - this(key, VCFHeaderLineTranslator.parseLine(version, line, expectedTagOrdering), expectedTagOrdering); - } - - public VCFSimpleHeaderLine(final String key, final Map mapping, final List expectedTagOrdering) { - super(key, ""); - name = mapping.get("ID"); - initialize(name, mapping); - } - - protected void initialize(String name, Map genericFields) { - if ( name == null || genericFields == null || genericFields.isEmpty() ) - throw new IllegalArgumentException(String.format("Invalid VCFSimpleHeaderLine: key=%s name=%s", super.getKey(), name)); - - this.name = name; - this.genericFields.putAll(genericFields); - } - - protected String toStringEncoding() { - Map map = new LinkedHashMap(); - map.put("ID", name); - map.putAll(genericFields); - return getKey() + "=" + VCFHeaderLine.toStringEncoding(map); - } - - public boolean equals(Object o) { - if ( !(o instanceof VCFSimpleHeaderLine) ) - return false; - VCFSimpleHeaderLine other = (VCFSimpleHeaderLine)o; - if ( !name.equals(other.name) || genericFields.size() != other.genericFields.size() ) - return false; - for ( Map.Entry entry : genericFields.entrySet() ) { - if ( !entry.getValue().equals(other.genericFields.get(entry.getKey())) ) - return false; - } - - return true; - } - - public String getID() { - return name; - } -} \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFStandardHeaderLines.java b/public/java/src/org/broadinstitute/variant/vcf/VCFStandardHeaderLines.java deleted file mode 100644 index d289c679e..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFStandardHeaderLines.java +++ /dev/null @@ -1,264 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import com.google.java.contract.Ensures; -import com.google.java.contract.Requires; -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.utils.GeneralUtils; - -import java.util.*; - -/** - * Manages header lines for standard VCF INFO and FORMAT fields - * - * Provides simple mechanisms for registering standard lines, - * looking them up, and adding them to headers - * - * @author Mark DePristo - * @since 6/12 - */ -public class VCFStandardHeaderLines { - /** - * Enabling this causes us to repair header lines even if only their descriptions differ - */ - private final static boolean REPAIR_BAD_DESCRIPTIONS = false; - private static Standards formatStandards = new Standards(); - private static Standards infoStandards = new Standards(); - - /** - * Walks over the VCF header and repairs the standard VCF header lines in it, returning a freshly - * allocated VCFHeader with standard VCF header lines repaired as necessary - * - * @param header - * @return - */ - @Requires("header != null") - @Ensures("result != null") - public static VCFHeader repairStandardHeaderLines(final VCFHeader header) { - final Set newLines = new LinkedHashSet(header.getMetaDataInInputOrder().size()); - for ( VCFHeaderLine line : header.getMetaDataInInputOrder() ) { - if ( line instanceof VCFFormatHeaderLine ) { - line = formatStandards.repair((VCFFormatHeaderLine) line); - } else if ( line instanceof VCFInfoHeaderLine) { - line = infoStandards.repair((VCFInfoHeaderLine) line); - } - - newLines.add(line); - } - - return new VCFHeader(newLines, header.getGenotypeSamples()); - } - - /** - * Adds header lines for each of the format fields in IDs to header, returning the set of - * IDs without standard descriptions, unless throwErrorForMissing is true, in which - * case this situation results in a TribbleException - * - * @param IDs - * @return - */ - public static Set addStandardFormatLines(final Set headerLines, final boolean throwErrorForMissing, final Collection IDs) { - return formatStandards.addToHeader(headerLines, IDs, throwErrorForMissing); - } - - /** - * @see #addStandardFormatLines(java.util.Set, boolean, java.util.Collection) - * - * @param headerLines - * @param throwErrorForMissing - * @param IDs - * @return - */ - public static Set addStandardFormatLines(final Set headerLines, final boolean throwErrorForMissing, final String ... IDs) { - return addStandardFormatLines(headerLines, throwErrorForMissing, Arrays.asList(IDs)); - } - - /** - * Returns the standard format line for ID. If none exists, return null or throw an exception, depending - * on throwErrorForMissing - * - * @param ID - * @param throwErrorForMissing - * @return - */ - public static VCFFormatHeaderLine getFormatLine(final String ID, final boolean throwErrorForMissing) { - return formatStandards.get(ID, throwErrorForMissing); - } - - /** - * Returns the standard format line for ID. If none exists throw an exception - * - * @param ID - * @return - */ - public static VCFFormatHeaderLine getFormatLine(final String ID) { - return formatStandards.get(ID, true); - } - - private static void registerStandard(final VCFFormatHeaderLine line) { - formatStandards.add(line); - } - - /** - * Adds header lines for each of the info fields in IDs to header, returning the set of - * IDs without standard descriptions, unless throwErrorForMissing is true, in which - * case this situation results in a TribbleException - * - * @param IDs - * @return - */ - public static Set addStandardInfoLines(final Set headerLines, final boolean throwErrorForMissing, final Collection IDs) { - return infoStandards.addToHeader(headerLines, IDs, throwErrorForMissing); - } - - /** - * @see #addStandardFormatLines(java.util.Set, boolean, java.util.Collection) - * - * @param IDs - * @return - */ - public static Set addStandardInfoLines(final Set headerLines, final boolean throwErrorForMissing, final String ... IDs) { - return addStandardInfoLines(headerLines, throwErrorForMissing, Arrays.asList(IDs)); - } - - /** - * Returns the standard info line for ID. If none exists, return null or throw an exception, depending - * on throwErrorForMissing - * - * @param ID - * @param throwErrorForMissing - * @return - */ - public static VCFInfoHeaderLine getInfoLine(final String ID, final boolean throwErrorForMissing) { - return infoStandards.get(ID, throwErrorForMissing); - } - - /** - * Returns the standard info line for ID. If none exists throw an exception - * - * @param ID - * @return - */ - public static VCFInfoHeaderLine getInfoLine(final String ID) { - return getInfoLine(ID, true); - } - - private static void registerStandard(final VCFInfoHeaderLine line) { - infoStandards.add(line); - } - - - // - // VCF header line constants - // - static { - // FORMAT lines - registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_KEY, 1, VCFHeaderLineType.String, "Genotype")); - registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_QUALITY_KEY, 1, VCFHeaderLineType.Integer, "Genotype Quality")); - registerStandard(new VCFFormatHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Integer, "Approximate read depth (reads with MQ=255 or with bad mates are filtered)")); - registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_PL_KEY, VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification")); - registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_ALLELE_DEPTHS, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "Allelic depths for the ref and alt alleles in the order listed")); - registerStandard(new VCFFormatHeaderLine(VCFConstants.GENOTYPE_FILTER_KEY, 1, VCFHeaderLineType.String, "Genotype-level filter")); - - // INFO lines - registerStandard(new VCFInfoHeaderLine(VCFConstants.END_KEY, 1, VCFHeaderLineType.Integer, "Stop position of the interval")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.MLE_ALLELE_COUNT_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.MLE_ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.DOWNSAMPLED_KEY, 0, VCFHeaderLineType.Flag, "Were any of the samples downsampled?")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.DBSNP_KEY, 0, VCFHeaderLineType.Flag, "dbSNP Membership")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.DEPTH_KEY, 1, VCFHeaderLineType.Integer, "Approximate read depth; some reads may have been filtered")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.STRAND_BIAS_KEY, 1, VCFHeaderLineType.Float, "Strand Bias")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Allele Frequency, for each ALT allele, in the same order as listed")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.ALLELE_COUNT_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "Allele count in genotypes, for each ALT allele, in the same order as listed")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.ALLELE_NUMBER_KEY, 1, VCFHeaderLineType.Integer, "Total number of alleles in called genotypes")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.MAPPING_QUALITY_ZERO_KEY, 1, VCFHeaderLineType.Integer, "Total Mapping Quality Zero Reads")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.RMS_MAPPING_QUALITY_KEY, 1, VCFHeaderLineType.Float, "RMS Mapping Quality")); - registerStandard(new VCFInfoHeaderLine(VCFConstants.SOMATIC_KEY, 0, VCFHeaderLineType.Flag, "Somatic event")); - } - - private static class Standards { - private final Map standards = new HashMap(); - - @Requires("line != null") - @Ensures({"result != null", "result.getID().equals(line.getID())"}) - public T repair(final T line) { - final T standard = get(line.getID(), false); - if ( standard != null ) { - final boolean badCountType = line.getCountType() != standard.getCountType(); - final boolean badCount = line.isFixedCount() && ! badCountType && line.getCount() != standard.getCount(); - final boolean badType = line.getType() != standard.getType(); - final boolean badDesc = ! line.getDescription().equals(standard.getDescription()); - final boolean needsRepair = badCountType || badCount || badType || (REPAIR_BAD_DESCRIPTIONS && badDesc); - - if ( needsRepair ) { - if ( GeneralUtils.DEBUG_MODE_ENABLED ) { - System.err.println("Repairing standard header line for field " + line.getID() + " because" - + (badCountType ? " -- count types disagree; header has " + line.getCountType() + " but standard is " + standard.getCountType() : "") - + (badType ? " -- type disagree; header has " + line.getType() + " but standard is " + standard.getType() : "") - + (badCount ? " -- counts disagree; header has " + line.getCount() + " but standard is " + standard.getCount() : "") - + (badDesc ? " -- descriptions disagree; header has '" + line.getDescription() + "' but standard is '" + standard.getDescription() + "'": "")); - } - return standard; - } else - return line; - } else - return line; - } - - @Requires("headerLines != null") - @Ensures({"result != null", "result.isEmpty() || ! throwErrorForMissing", "IDs.containsAll(result)"}) - public Set addToHeader(final Set headerLines, final Collection IDs, final boolean throwErrorForMissing) { - final Set missing = new HashSet(); - for ( final String ID : IDs ) { - final T line = get(ID, throwErrorForMissing); - if ( line == null ) - missing.add(ID); - else - headerLines.add(line); - } - - return missing; - } - - @Requires("line != null") - @Ensures({"standards.containsKey(line.getID())"}) - public void add(final T line) { - if ( standards.containsKey(line.getID()) ) - throw new TribbleException("Attempting to add multiple standard header lines for ID " + line.getID()); - standards.put(line.getID(), line); - } - - @Requires("ID != null") - @Ensures({"result != null || ! throwErrorForMissing"}) - public T get(final String ID, final boolean throwErrorForMissing) { - final T x = standards.get(ID); - if ( throwErrorForMissing && x == null ) - throw new TribbleException("Couldn't find a standard VCF header line for field " + ID); - return x; - } - } -} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFUtils.java b/public/java/src/org/broadinstitute/variant/vcf/VCFUtils.java deleted file mode 100644 index f61761652..000000000 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFUtils.java +++ /dev/null @@ -1,196 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import net.sf.samtools.SAMSequenceDictionary; -import net.sf.samtools.SAMSequenceRecord; -import org.apache.commons.io.FilenameUtils; -import org.broadinstitute.variant.utils.GeneralUtils; - -import java.io.File; -import java.util.*; - -public class VCFUtils { - - public static Set smartMergeHeaders(Collection headers, boolean emitWarnings) throws IllegalStateException { - HashMap map = new HashMap(); // from KEY.NAME -> line - HeaderConflictWarner conflictWarner = new HeaderConflictWarner(emitWarnings); - - // todo -- needs to remove all version headers from sources and add its own VCF version line - for ( VCFHeader source : headers ) { - //System.out.printf("Merging in header %s%n", source); - for ( VCFHeaderLine line : source.getMetaDataInSortedOrder()) { - - String key = line.getKey(); - if ( line instanceof VCFIDHeaderLine ) - key = key + "-" + ((VCFIDHeaderLine)line).getID(); - - if ( map.containsKey(key) ) { - VCFHeaderLine other = map.get(key); - if ( line.equals(other) ) { - // continue; - } else if ( ! line.getClass().equals(other.getClass()) ) { - throw new IllegalStateException("Incompatible header types: " + line + " " + other ); - } else if ( line instanceof VCFFilterHeaderLine ) { - String lineName = ((VCFFilterHeaderLine) line).getID(); - String otherName = ((VCFFilterHeaderLine) other).getID(); - if ( ! lineName.equals(otherName) ) - throw new IllegalStateException("Incompatible header types: " + line + " " + other ); - } else if ( line instanceof VCFCompoundHeaderLine ) { - VCFCompoundHeaderLine compLine = (VCFCompoundHeaderLine)line; - VCFCompoundHeaderLine compOther = (VCFCompoundHeaderLine)other; - - // if the names are the same, but the values are different, we need to quit - if (! (compLine).equalsExcludingDescription(compOther) ) { - if ( compLine.getType().equals(compOther.getType()) ) { - // The Number entry is an Integer that describes the number of values that can be - // included with the INFO field. For example, if the INFO field contains a single - // number, then this value should be 1. However, if the INFO field describes a pair - // of numbers, then this value should be 2 and so on. If the number of possible - // values varies, is unknown, or is unbounded, then this value should be '.'. - conflictWarner.warn(line, "Promoting header field Number to . due to number differences in header lines: " + line + " " + other); - compOther.setNumberToUnbounded(); - } else if ( compLine.getType() == VCFHeaderLineType.Integer && compOther.getType() == VCFHeaderLineType.Float ) { - // promote key to Float - conflictWarner.warn(line, "Promoting Integer to Float in header: " + compOther); - map.put(key, compOther); - } else if ( compLine.getType() == VCFHeaderLineType.Float && compOther.getType() == VCFHeaderLineType.Integer ) { - // promote key to Float - conflictWarner.warn(line, "Promoting Integer to Float in header: " + compOther); - } else { - throw new IllegalStateException("Incompatible header types, collision between these two types: " + line + " " + other ); - } - } - if ( ! compLine.getDescription().equals(compOther.getDescription()) ) - conflictWarner.warn(line, "Allowing unequal description fields through: keeping " + compOther + " excluding " + compLine); - } else { - // we are not equal, but we're not anything special either - conflictWarner.warn(line, "Ignoring header line already in map: this header line = " + line + " already present header = " + other); - } - } else { - map.put(key, line); - //System.out.printf("Adding header line %s%n", line); - } - } - } - - return new HashSet(map.values()); - } - - /** - * Add / replace the contig header lines in the VCFHeader with the in the reference file and master reference dictionary - * - * @param oldHeader the header to update - * @param referenceFile the file path to the reference sequence used to generate this vcf - * @param refDict the SAM formatted reference sequence dictionary - */ - public static VCFHeader withUpdatedContigs(final VCFHeader oldHeader, final File referenceFile, final SAMSequenceDictionary refDict) { - return new VCFHeader(withUpdatedContigsAsLines(oldHeader.getMetaDataInInputOrder(), referenceFile, refDict), oldHeader.getGenotypeSamples()); - } - - public static Set withUpdatedContigsAsLines(final Set oldLines, final File referenceFile, final SAMSequenceDictionary refDict) { - return withUpdatedContigsAsLines(oldLines, referenceFile, refDict, false); - } - - public static Set withUpdatedContigsAsLines(final Set oldLines, final File referenceFile, final SAMSequenceDictionary refDict, boolean referenceNameOnly) { - final Set lines = new LinkedHashSet(oldLines.size()); - - for ( final VCFHeaderLine line : oldLines ) { - if ( line instanceof VCFContigHeaderLine ) - continue; // skip old contig lines - if ( line.getKey().equals(VCFHeader.REFERENCE_KEY) ) - continue; // skip the old reference key - lines.add(line); - } - - for ( final VCFHeaderLine contigLine : makeContigHeaderLines(refDict, referenceFile) ) - lines.add(contigLine); - - String referenceValue; - if (referenceFile != null) { - if (referenceNameOnly) - referenceValue = FilenameUtils.getBaseName(referenceFile.getName()); - else - referenceValue = "file://" + referenceFile.getAbsolutePath(); - lines.add(new VCFHeaderLine(VCFHeader.REFERENCE_KEY, referenceValue)); - } - return lines; - } - - /** - * Create VCFHeaderLines for each refDict entry, and optionally the assembly if referenceFile != null - * @param refDict reference dictionary - * @param referenceFile for assembly name. May be null - * @return list of vcf contig header lines - */ - public static List makeContigHeaderLines(final SAMSequenceDictionary refDict, - final File referenceFile) { - final List lines = new ArrayList(); - final String assembly = referenceFile != null ? getReferenceAssembly(referenceFile.getName()) : null; - for ( SAMSequenceRecord contig : refDict.getSequences() ) - lines.add(makeContigHeaderLine(contig, assembly)); - return lines; - } - - private static VCFContigHeaderLine makeContigHeaderLine(final SAMSequenceRecord contig, final String assembly) { - final Map map = new LinkedHashMap(3); - map.put("ID", contig.getSequenceName()); - map.put("length", String.valueOf(contig.getSequenceLength())); - if ( assembly != null ) map.put("assembly", assembly); - return new VCFContigHeaderLine(map, contig.getSequenceIndex()); - } - - private static String getReferenceAssembly(final String refPath) { - // This doesn't need to be perfect as it's not a required VCF header line, but we might as well give it a shot - String assembly = null; - if (refPath.contains("b37") || refPath.contains("v37")) - assembly = "b37"; - else if (refPath.contains("b36")) - assembly = "b36"; - else if (refPath.contains("hg18")) - assembly = "hg18"; - else if (refPath.contains("hg19")) - assembly = "hg19"; - return assembly; - } - - /** Only displays a warning if warnings are enabled and an identical warning hasn't been already issued */ - private static final class HeaderConflictWarner { - boolean emitWarnings; - Set alreadyIssued = new HashSet(); - - private HeaderConflictWarner( final boolean emitWarnings ) { - this.emitWarnings = emitWarnings; - } - - public void warn(final VCFHeaderLine line, final String msg) { - if ( GeneralUtils.DEBUG_MODE_ENABLED && emitWarnings && ! alreadyIssued.contains(line.getKey()) ) { - alreadyIssued.add(line.getKey()); - System.err.println(msg); - } - } - } -} diff --git a/public/java/test/org/broadinstitute/sting/BaseTest.java b/public/java/test/org/broadinstitute/sting/BaseTest.java index 70ece1140..d6cba26d6 100644 --- a/public/java/test/org/broadinstitute/sting/BaseTest.java +++ b/public/java/test/org/broadinstitute/sting/BaseTest.java @@ -31,9 +31,18 @@ import org.apache.log4j.Logger; import org.apache.log4j.PatternLayout; import org.apache.log4j.spi.LoggingEvent; import org.broadinstitute.sting.commandline.CommandLineUtils; +import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.crypt.CryptUtils; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.io.IOUtils; +import org.broadinstitute.sting.utils.variant.GATKVCFUtils; +import org.broadinstitute.variant.bcf2.BCF2Codec; +import org.broadinstitute.variant.variantcontext.Genotype; +import org.broadinstitute.variant.variantcontext.VariantContext; +import org.broadinstitute.variant.vcf.VCFCodec; +import org.broadinstitute.variant.vcf.VCFConstants; +import org.broadinstitute.variant.vcf.VCFHeader; +import org.broadinstitute.variant.vcf.VCFHeaderLine; import org.testng.Assert; import org.testng.Reporter; import org.testng.SkipException; @@ -343,4 +352,154 @@ public abstract class BaseTest { + (message == null ? "" : "message: " + message)); } } + + public static void assertVariantContextsAreEqual( final VariantContext actual, final VariantContext expected ) { + Assert.assertNotNull(actual, "VariantContext expected not null"); + Assert.assertEquals(actual.getChr(), expected.getChr(), "chr"); + Assert.assertEquals(actual.getStart(), expected.getStart(), "start"); + Assert.assertEquals(actual.getEnd(), expected.getEnd(), "end"); + Assert.assertEquals(actual.getID(), expected.getID(), "id"); + Assert.assertEquals(actual.getAlleles(), expected.getAlleles(), "alleles for " + expected + " vs " + actual); + + assertAttributesEquals(actual.getAttributes(), expected.getAttributes()); + Assert.assertEquals(actual.filtersWereApplied(), expected.filtersWereApplied(), "filtersWereApplied"); + Assert.assertEquals(actual.isFiltered(), expected.isFiltered(), "isFiltered"); + assertEqualsSet(actual.getFilters(), expected.getFilters(), "filters"); + assertEqualsDoubleSmart(actual.getPhredScaledQual(), expected.getPhredScaledQual()); + + Assert.assertEquals(actual.hasGenotypes(), expected.hasGenotypes(), "hasGenotypes"); + if ( expected.hasGenotypes() ) { + assertEqualsSet(actual.getSampleNames(), expected.getSampleNames(), "sample names set"); + Assert.assertEquals(actual.getSampleNamesOrderedByName(), expected.getSampleNamesOrderedByName(), "sample names"); + final Set samples = expected.getSampleNames(); + for ( final String sample : samples ) { + assertGenotypesAreEqual(actual.getGenotype(sample), expected.getGenotype(sample)); + } + } + } + + public static void assertVariantContextStreamsAreEqual(final Iterable actual, final Iterable expected) { + final Iterator actualIT = actual.iterator(); + final Iterator expectedIT = expected.iterator(); + + while ( expectedIT.hasNext() ) { + final VariantContext expectedVC = expectedIT.next(); + if ( expectedVC == null ) + continue; + + VariantContext actualVC; + do { + Assert.assertTrue(actualIT.hasNext(), "Too few records found in actual"); + actualVC = actualIT.next(); + } while ( actualIT.hasNext() && actualVC == null ); + + if ( actualVC == null ) + Assert.fail("Too few records in actual"); + + assertVariantContextsAreEqual(actualVC, expectedVC); + } + Assert.assertTrue(! actualIT.hasNext(), "Too many records found in actual"); + } + + + public static void assertGenotypesAreEqual(final Genotype actual, final Genotype expected) { + Assert.assertEquals(actual.getSampleName(), expected.getSampleName(), "Genotype names"); + Assert.assertEquals(actual.getAlleles(), expected.getAlleles(), "Genotype alleles"); + Assert.assertEquals(actual.getGenotypeString(), expected.getGenotypeString(), "Genotype string"); + Assert.assertEquals(actual.getType(), expected.getType(), "Genotype type"); + + // filters are the same + Assert.assertEquals(actual.getFilters(), expected.getFilters(), "Genotype fields"); + Assert.assertEquals(actual.isFiltered(), expected.isFiltered(), "Genotype isFiltered"); + + // inline attributes + Assert.assertEquals(actual.getDP(), expected.getDP(), "Genotype dp"); + Assert.assertTrue(Arrays.equals(actual.getAD(), expected.getAD())); + Assert.assertEquals(actual.getGQ(), expected.getGQ(), "Genotype gq"); + Assert.assertEquals(actual.hasPL(), expected.hasPL(), "Genotype hasPL"); + Assert.assertEquals(actual.hasAD(), expected.hasAD(), "Genotype hasAD"); + Assert.assertEquals(actual.hasGQ(), expected.hasGQ(), "Genotype hasGQ"); + Assert.assertEquals(actual.hasDP(), expected.hasDP(), "Genotype hasDP"); + + Assert.assertEquals(actual.hasLikelihoods(), expected.hasLikelihoods(), "Genotype haslikelihoods"); + Assert.assertEquals(actual.getLikelihoodsString(), expected.getLikelihoodsString(), "Genotype getlikelihoodsString"); + Assert.assertEquals(actual.getLikelihoods(), expected.getLikelihoods(), "Genotype getLikelihoods"); + Assert.assertTrue(Arrays.equals(actual.getPL(), expected.getPL())); + + Assert.assertEquals(actual.getPhredScaledQual(), expected.getPhredScaledQual(), "Genotype phredScaledQual"); + assertAttributesEquals(actual.getExtendedAttributes(), expected.getExtendedAttributes()); + Assert.assertEquals(actual.isPhased(), expected.isPhased(), "Genotype isPhased"); + Assert.assertEquals(actual.getPloidy(), expected.getPloidy(), "Genotype getPloidy"); + } + + public static void assertVCFHeadersAreEqual(final VCFHeader actual, final VCFHeader expected) { + Assert.assertEquals(actual.getMetaDataInSortedOrder().size(), expected.getMetaDataInSortedOrder().size(), "No VCF header lines"); + + // for some reason set.equals() is returning false but all paired elements are .equals(). Perhaps compare to is busted? + //Assert.assertEquals(actual.getMetaDataInInputOrder(), expected.getMetaDataInInputOrder()); + final List actualLines = new ArrayList(actual.getMetaDataInSortedOrder()); + final List expectedLines = new ArrayList(expected.getMetaDataInSortedOrder()); + for ( int i = 0; i < actualLines.size(); i++ ) { + Assert.assertEquals(actualLines.get(i), expectedLines.get(i), "VCF header lines"); + } + } + + public static void assertVCFandBCFFilesAreTheSame(final File vcfFile, final File bcfFile) throws IOException { + final Pair vcfData = GATKVCFUtils.readAllVCs(vcfFile, new VCFCodec()); + final Pair bcfData = GATKVCFUtils.readAllVCs(bcfFile, new BCF2Codec()); + assertVCFHeadersAreEqual(bcfData.getFirst(), vcfData.getFirst()); + assertVariantContextStreamsAreEqual(bcfData.getSecond(), vcfData.getSecond()); + } + + private static void assertAttributeEquals(final String key, final Object actual, final Object expected) { + if ( expected instanceof Double ) { + // must be very tolerant because doubles are being rounded to 2 sig figs + assertEqualsDoubleSmart(actual, (Double) expected, 1e-2); + } else + Assert.assertEquals(actual, expected, "Attribute " + key); + } + + private static void assertAttributesEquals(final Map actual, Map expected) { + final Set expectedKeys = new HashSet(expected.keySet()); + + for ( final Map.Entry act : actual.entrySet() ) { + final Object actualValue = act.getValue(); + if ( expected.containsKey(act.getKey()) && expected.get(act.getKey()) != null ) { + final Object expectedValue = expected.get(act.getKey()); + if ( expectedValue instanceof List ) { + final List expectedList = (List)expectedValue; + Assert.assertTrue(actualValue instanceof List, act.getKey() + " should be a list but isn't"); + final List actualList = (List)actualValue; + Assert.assertEquals(actualList.size(), expectedList.size(), act.getKey() + " size"); + for ( int i = 0; i < expectedList.size(); i++ ) + assertAttributeEquals(act.getKey(), actualList.get(i), expectedList.get(i)); + } else + assertAttributeEquals(act.getKey(), actualValue, expectedValue); + } else { + // it's ok to have a binding in x -> null that's absent in y + Assert.assertNull(actualValue, act.getKey() + " present in one but not in the other"); + } + expectedKeys.remove(act.getKey()); + } + + // now expectedKeys contains only the keys found in expected but not in actual, + // and they must all be null + for ( final String missingExpected : expectedKeys ) { + final Object value = expected.get(missingExpected); + Assert.assertTrue(isMissing(value), "Attribute " + missingExpected + " missing in one but not in other" ); + } + } + + private static final boolean isMissing(final Object value) { + if ( value == null ) return true; + else if ( value.equals(VCFConstants.MISSING_VALUE_v4) ) return true; + else if ( value instanceof List ) { + // handles the case where all elements are null or the list is empty + for ( final Object elt : (List)value) + if ( elt != null ) + return false; + return true; + } else + return false; + } } diff --git a/public/java/test/org/broadinstitute/sting/ExampleToCopyUnitTest.java b/public/java/test/org/broadinstitute/sting/ExampleToCopyUnitTest.java index 765511ae6..8a8faee8b 100644 --- a/public/java/test/org/broadinstitute/sting/ExampleToCopyUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/ExampleToCopyUnitTest.java @@ -49,7 +49,6 @@ import org.broadinstitute.sting.utils.sam.GATKSamRecordFactory; import org.broadinstitute.variant.variantcontext.Allele; import org.broadinstitute.variant.variantcontext.VariantContext; import org.broadinstitute.variant.variantcontext.VariantContextBuilder; -import org.broadinstitute.variant.variantcontext.VariantContextTestProvider; import org.broadinstitute.variant.vcf.VCFCodec; import org.testng.Assert; import org.testng.annotations.BeforeClass; diff --git a/public/java/test/org/broadinstitute/sting/TestNGTestTransformer.java b/public/java/test/org/broadinstitute/sting/TestNGTestTransformer.java index e477bbe47..362d409cb 100644 --- a/public/java/test/org/broadinstitute/sting/TestNGTestTransformer.java +++ b/public/java/test/org/broadinstitute/sting/TestNGTestTransformer.java @@ -44,7 +44,7 @@ import java.lang.reflect.Method; * @version 0.1 */ public class TestNGTestTransformer implements IAnnotationTransformer { - public static final long DEFAULT_TIMEOUT = 1000 * 60 * 10; // 10 minutes max per test + public static final long DEFAULT_TIMEOUT = 1000 * 60 * 20; // 20 minutes max per test final static Logger logger = Logger.getLogger(TestNGTestTransformer.class); diff --git a/public/java/test/org/broadinstitute/sting/WalkerTest.java b/public/java/test/org/broadinstitute/sting/WalkerTest.java index eec0f653a..155d44ecd 100644 --- a/public/java/test/org/broadinstitute/sting/WalkerTest.java +++ b/public/java/test/org/broadinstitute/sting/WalkerTest.java @@ -39,7 +39,6 @@ import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.variant.vcf.VCFCodec; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.StingException; -import org.broadinstitute.variant.variantcontext.VariantContextTestProvider; import org.testng.Assert; import org.testng.annotations.AfterSuite; import org.testng.annotations.BeforeMethod; @@ -82,7 +81,7 @@ public class WalkerTest extends BaseTest { if ( bcfFile != null && bcfFile.exists() ) { logger.warn("Checking shadow BCF output file " + bcfFile + " against VCF file " + resultFile); try { - VariantContextTestProvider.assertVCFandBCFFilesAreTheSame(resultFile, bcfFile); + assertVCFandBCFFilesAreTheSame(resultFile, bcfFile); logger.warn(" Shadow BCF PASSED!"); } catch ( Exception e ) { Assert.fail("Exception received reading shadow BCFFile " + bcfFile + " for test " + name, e); diff --git a/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java index 12c257796..8d0874ea1 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/EngineFeaturesIntegrationTest.java @@ -64,16 +64,16 @@ public class EngineFeaturesIntegrationTest extends WalkerTest { } @Test() private void testMissingBAMnt1() { - testMissingFile("missing BAM", "-T UnifiedGenotyper -I missing.bam -nt 1"); + testMissingFile("missing BAM", "-T PrintReads -I missing.bam -nt 1"); } @Test() private void testMissingBAMnt4() { - testMissingFile("missing BAM", "-T UnifiedGenotyper -I missing.bam -nt 4"); + testMissingFile("missing BAM", "-T PrintReads -I missing.bam -nt 4"); } @Test() private void testMissingVCF() { testMissingFile("missing VCF", "-T SelectVariants -V missing.vcf"); } @Test() private void testMissingInterval() { - testMissingFile("missing interval", "-T UnifiedGenotyper -L missing.interval_list -I " + b37GoodBAM); + testMissingFile("missing interval", "-T PrintReads -L missing.interval_list -I " + b37GoodBAM); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java index af22d852b..0b6e08fa7 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/GenomeAnalysisEngineUnitTest.java @@ -30,7 +30,9 @@ import org.broadinstitute.sting.commandline.ArgumentException; import org.broadinstitute.sting.commandline.Tags; import org.broadinstitute.sting.gatk.datasources.reads.SAMReaderID; import org.broadinstitute.sting.gatk.walkers.readutils.PrintReads; +import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.GenomeLocSortedSet; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; import org.testng.annotations.Test; import java.io.File; @@ -70,10 +72,12 @@ public class GenomeAnalysisEngineUnitTest extends BaseTest { @Test public void testEmptyIntervalSetHandling() throws Exception { + GenomeLocParser genomeLocParser = new GenomeLocParser(ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000).getSequenceDictionary()); + GenomeAnalysisEngine testEngine = new GenomeAnalysisEngine(); testEngine.setWalker(new PrintReads()); - testEngine.setIntervals(new GenomeLocSortedSet(null)); + testEngine.setIntervals(new GenomeLocSortedSet(genomeLocParser)); testEngine.validateSuppliedIntervals(); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/MaxRuntimeIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/MaxRuntimeIntegrationTest.java index 7813c26be..55f9e1f7d 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/MaxRuntimeIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/MaxRuntimeIntegrationTest.java @@ -71,7 +71,7 @@ public class MaxRuntimeIntegrationTest extends WalkerTest { @Test(enabled = true, dataProvider = "MaxRuntimeProvider", timeOut = 60 * 1000) public void testMaxRuntime(final MaxRuntimeTestProvider cfg) { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T UnifiedGenotyper -R " + hg18Reference + "-T PrintReads -R " + hg18Reference + " -I " + validationDataLocation + "NA12878.WEx.downsampled20x.bam -o /dev/null" + " -maxRuntime " + cfg.maxRuntime + " -maxRuntimeUnits " + cfg.unit, 0, Collections.emptyList()); diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSourceUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSourceUnitTest.java index 23720e60d..8d33aa8b6 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSourceUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SAMDataSourceUnitTest.java @@ -111,7 +111,7 @@ public class SAMDataSourceUnitTest extends BaseTest { new ArrayList(), false); - Iterable strat = data.createShardIteratorOverMappedReads(seq.getSequenceDictionary(),new LocusShardBalancer()); + Iterable strat = data.createShardIteratorOverMappedReads(new LocusShardBalancer()); int count = 0; try { diff --git a/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SeekableBufferedStreamUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SeekableBufferedStreamUnitTest.java new file mode 100644 index 000000000..4cb19d154 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/gatk/datasources/reads/SeekableBufferedStreamUnitTest.java @@ -0,0 +1,101 @@ +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + +package org.broadinstitute.sting.gatk.datasources.reads; + +import net.sf.samtools.seekablestream.SeekableBufferedStream; +import net.sf.samtools.seekablestream.SeekableFileStream; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.exceptions.StingException; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; + +/** + * Test basic functionality in SeekableBufferedStream. + */ +public class SeekableBufferedStreamUnitTest extends BaseTest { + private static File InputFile = new File(validationDataLocation + "megabyteZeros.dat"); + + final private int BUFFERED_STREAM_BUFFER_SIZE = 100; + private byte buffer[] = new byte[BUFFERED_STREAM_BUFFER_SIZE * 10]; + + + @DataProvider(name = "BasicArgumentsDivisible") + public Integer[][] DivisableReads() { + return new Integer[][]{{1}, {4}, {5}, {10}, {20}, {50}, {100}}; + } + + @DataProvider(name = "BasicArgumentsIndivisibleAndSmall") + public Integer[][] InDivisableReadsSmall() { + return new Integer[][]{{3}, {11}, {31}, {51}, {77}, {99}}; + } + + @DataProvider(name = "BasicArgumentsIndivisibleYetLarge") + public Integer[][] InDivisableReadsLarge() { + return new Integer[][]{{101}, {151}, {205}, {251}, {301}}; + } + + + private void testReadsLength(int length) throws IOException { + final int READ_SIZE=100000; //file is 10^6, so make this smaller to be safe. + + SeekableFileStream fileStream = new SeekableFileStream(InputFile); + SeekableBufferedStream bufferedStream = new SeekableBufferedStream(fileStream, BUFFERED_STREAM_BUFFER_SIZE); + + for (int i = 0; i < READ_SIZE / length; ++i) { + Assert.assertEquals(bufferedStream.read(buffer, 0, length), length); + } + + } + + // These tests fail because SeekableBuffered stream may return _less_ than the amount you are asking for. + // make sure that you wrap reads with while-loops. If these test start failing (meaning that the reads work properly, + // the layer of protection built into GATKBamIndex can be removed. + + @Test(dataProvider = "BasicArgumentsIndivisibleAndSmall", enabled = true, expectedExceptions = java.lang.AssertionError.class) + public void testIndivisableSmallReadsFAIL(Integer readLength) throws IOException { + testReadsLength(readLength); + } + + //Evidently, if you ask for a read length that's larger than the inernal buffer, + //SeekableBufferedStreamdoes something else and gives you what you asked for + + @Test(dataProvider = "BasicArgumentsIndivisibleYetLarge", enabled = true) + public void testIndivisableLargeReadsPASS(Integer readLength) throws IOException { + testReadsLength(readLength); + } + + // if the readlength divides the buffer, there are no failures + @Test(dataProvider = "BasicArgumentsDivisible", enabled = true) + public void testDivisableReadsPASS(Integer readLength) throws IOException { + testReadsLength(readLength); + } + + +} diff --git a/public/java/src/org/broadinstitute/variant/vcf/VCFFilterHeaderLine.java b/public/java/test/org/broadinstitute/sting/gatk/filters/BadReadGroupsIntegrationTest.java similarity index 52% rename from public/java/src/org/broadinstitute/variant/vcf/VCFFilterHeaderLine.java rename to public/java/test/org/broadinstitute/sting/gatk/filters/BadReadGroupsIntegrationTest.java index c853033c0..12d875a4d 100644 --- a/public/java/src/org/broadinstitute/variant/vcf/VCFFilterHeaderLine.java +++ b/public/java/test/org/broadinstitute/sting/gatk/filters/BadReadGroupsIntegrationTest.java @@ -23,41 +23,30 @@ * THE USE OR OTHER DEALINGS IN THE SOFTWARE. */ -package org.broadinstitute.variant.vcf; +package org.broadinstitute.sting.gatk.filters; -import java.util.Arrays; +import org.broadinstitute.sting.WalkerTest; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.testng.annotations.Test; -/** - * @author ebanks - * A class representing a key=value entry for FILTER fields in the VCF header - */ -public class VCFFilterHeaderLine extends VCFSimpleHeaderLine { - /** - * create a VCF filter header line - * - * @param name the name for this header line - * @param description the description for this header line - */ - public VCFFilterHeaderLine(String name, String description) { - super("FILTER", name, description); +public class BadReadGroupsIntegrationTest extends WalkerTest { + + @Test + public void testMissingReadGroup() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T PrintReads -R " + b36KGReference + " -I " + privateTestDir + "missingReadGroup.bam -o /dev/null", + 0, + UserException.ReadMissingReadGroup.class); + executeTest("test Missing Read Group", spec); } - /** - * Convenience constructor for FILTER whose description is the name - * @param name - */ - public VCFFilterHeaderLine(String name) { - super("FILTER", name, name); + @Test + public void testUndefinedReadGroup() { + WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( + "-T PrintReads -R " + b36KGReference + " -I " + privateTestDir + "undefinedReadGroup.bam -o /dev/null", + 0, + UserException.ReadHasUndefinedReadGroup.class); + executeTest("test Undefined Read Group", spec); } - - /** - * create a VCF info header line - * - * @param line the header line - * @param version the vcf header version - */ - public VCFFilterHeaderLine(String line, VCFHeaderVersion version) { - super(line, version, "FILTER", Arrays.asList("ID", "Description")); - } -} \ No newline at end of file +} diff --git a/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java index a4e5b6d78..295b31203 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/samples/SampleDBUnitTest.java @@ -60,7 +60,7 @@ public class SampleDBUnitTest extends BaseTest { private static final Set testPEDFamilyF3 = new HashSet(Arrays.asList( new Sample("s1", "fam3", "d1", "m1", Gender.FEMALE, Affection.AFFECTED), - new Sample("d1", "fam3", null, null, Gender.FEMALE, Affection.UNKNOWN), + new Sample("d1", "fam3", null, null, Gender.MALE, Affection.UNKNOWN), new Sample("m1", "fam3", null, null, Gender.FEMALE, Affection.UNKNOWN) )); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileupIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/CheckPileupIntegrationTest.java similarity index 94% rename from public/java/test/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileupIntegrationTest.java rename to public/java/test/org/broadinstitute/sting/gatk/walkers/qc/CheckPileupIntegrationTest.java index 2983d8544..4d3741228 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/ValidatingPileupIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/CheckPileupIntegrationTest.java @@ -36,11 +36,11 @@ import java.util.Collections; * @author mhanna * @version 0.1 */ -public class ValidatingPileupIntegrationTest extends WalkerTest { +public class CheckPileupIntegrationTest extends WalkerTest { @Test(enabled = true) public void testEcoliThreaded() { WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( - "-T ValidatingPileup" + + "-T CheckPileup" + " -I " + validationDataLocation + "MV1994.selected.bam" + " -R " + validationDataLocation + "Escherichia_coli_K12_MG1655.fasta" + " --pileup:SAMPileup "+ validationDataLocation + "MV1994.selected.pileup" + diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/DictionaryConsistencyIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/DictionaryConsistencyIntegrationTest.java index 853d79c90..a813fada2 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/DictionaryConsistencyIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/DictionaryConsistencyIntegrationTest.java @@ -64,22 +64,18 @@ public class DictionaryConsistencyIntegrationTest extends WalkerTest { } - @Test public void failBAM1() { executeTest("b36bam-v-b37", testBAM(b37KGReference, b36BAM)); } - @Test public void failBAM2() { executeTest("b36bam-v-hg18", testBAM(hg18Reference, b36BAM)); } - @Test public void failBAM3() { executeTest("b36bam-v-hg19", testBAM(hg19Reference, b36BAM)); } - @Test public void failBAM4() { executeTest("b36bam-v-lexhg18", testBAM(lexHG18, b36BAM, UserException.LexicographicallySortedSequenceDictionary.class)); } + @Test public void failBAM1() { executeTest("b36bam-v-b37", testBAM(b37KGReference, b36BAM, "1", UserException.IncompatibleSequenceDictionaries.class)); } + @Test public void failBAM2() { executeTest("b36bam-v-hg18", testBAM(hg18Reference, b36BAM, "chr1", UserException.IncompatibleSequenceDictionaries.class)); } + @Test public void failBAM3() { executeTest("b36bam-v-hg19", testBAM(hg19Reference, b36BAM, "1", UserException.IncompatibleSequenceDictionaries.class)); } + @Test public void failBAM4() { executeTest("b36bam-v-lexhg18", testBAM(lexHG18, b36BAM, "chr1", UserException.LexicographicallySortedSequenceDictionary.class)); } - @Test public void failBAM5() { executeTest("hg18bam-v-b36", testBAM(b36KGReference, hg18BAM)); } - @Test public void failBAM6() { executeTest("hg18bam-v-b37", testBAM(b37KGReference, hg18BAM)); } - @Test public void failBAM7() { executeTest("hg18bam-v-hg19", testBAM(hg19Reference, hg18BAM)); } - @Test public void failBAM8() { executeTest("hg18bam-v-lexhg18", testBAM(lexHG18, hg18BAM, UserException.LexicographicallySortedSequenceDictionary.class)); } + @Test public void failBAM5() { executeTest("hg18bam-v-b36", testBAM(b36KGReference, hg18BAM, "1", UserException.IncompatibleSequenceDictionaries.class)); } + @Test public void failBAM6() { executeTest("hg18bam-v-b37", testBAM(b37KGReference, hg18BAM, "1", UserException.IncompatibleSequenceDictionaries.class)); } + @Test public void failBAM7() { executeTest("hg18bam-v-hg19", testBAM(hg19Reference, hg18BAM, "1", UserException.IncompatibleSequenceDictionaries.class)); } + @Test public void failBAM8() { executeTest("hg18bam-v-lexhg18", testBAM(lexHG18, hg18BAM, "chr1", UserException.LexicographicallySortedSequenceDictionary.class)); } - private WalkerTest.WalkerTestSpec testBAM(String ref, String bam) { - return testBAM(ref, bam, UserException.IncompatibleSequenceDictionaries.class); - } - - private WalkerTest.WalkerTestSpec testBAM(String ref, String bam, Class c) { - return new WalkerTest.WalkerTestSpec("-T UnifiedGenotyper -I " + bam + " -R " + ref + " -L 1:10,000,000-11,000,000 -o %s", + private WalkerTest.WalkerTestSpec testBAM(String ref, String bam, String contig, Class c) { + return new WalkerTest.WalkerTestSpec("-T PrintReads -I " + bam + " -R " + ref + " -L " + contig + ":10,000,000-11,000,000 -o %s", 1, c); } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/PileupWalkerIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/PileupWalkerIntegrationTest.java index a6191802b..76654fb74 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/PileupWalkerIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/qc/PileupWalkerIntegrationTest.java @@ -31,6 +31,9 @@ import org.testng.annotations.Test; import java.util.Arrays; public class PileupWalkerIntegrationTest extends WalkerTest { + String gatkSpeedupArgs="-T Pileup -I " + validationDataLocation + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam " + + "-R " + hg19Reference + " -o %s "; + @Test public void testGnarleyFHSPileup() { String gatk_args = "-T Pileup -I " + validationDataLocation + "FHS_Pileup_Test.bam " @@ -64,4 +67,31 @@ public class PileupWalkerIntegrationTest extends WalkerTest { WalkerTestSpec spec = new WalkerTestSpec(gatk_args, 1, Arrays.asList(SingleReadAligningOffChromosome1MD5)); executeTest("Testing single read spanning off chromosome 1 unindexed", spec); } + + /************************/ + + //testing speedup to GATKBAMIndex + + + @Test + public void testPileupOnLargeBamChr20(){ + WalkerTestSpec spec = new WalkerTestSpec(gatkSpeedupArgs + "-L 20:1-76,050", 1, Arrays.asList("8702701350de11a6d28204acefdc4775")); + executeTest("Testing single on big BAM at start of chromosome 20", spec); + } + @Test + public void testPileupOnLargeBamMid20(){ + WalkerTestSpec spec = new WalkerTestSpec(gatkSpeedupArgs + "-L 20:10,000,000-10,001,100", 1, Arrays.asList("818cf5a8229efe6f89fc1cd8145ccbe3")); + executeTest("Testing single on big BAM somewhere in chromosome 20", spec); + } + @Test + public void testPileupOnLargeBamEnd20(){ + WalkerTestSpec spec = new WalkerTestSpec(gatkSpeedupArgs + "-L 20:62,954,114-63,025,520", 1, Arrays.asList("22471ea4a12e5139aef62bf8ff2a5b63")); + executeTest("Testing single at end of chromosome 20", spec); + } + @Test + public void testPileupOnLargeBam20Many(){ + WalkerTestSpec spec = new WalkerTestSpec(gatkSpeedupArgs + "-L 20:1-76,050 -L 20:20,000,000-20,000,100 -L 20:40,000,000-40,000,100 -L 20:30,000,000-30,000,100 -L 20:50,000,000-50,000,100 -L 20:62,954,114-63,025,520 ", + 1, Arrays.asList("08d899ed7c5a76ef3947bf67338acda1")); + executeTest("Testing single on big BAM many places", spec); + } } diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsIntegrationTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsIntegrationTest.java index b509fc1df..7482eae60 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsIntegrationTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsIntegrationTest.java @@ -75,6 +75,7 @@ public class PrintReadsIntegrationTest extends WalkerTest { " -R " + params.reference + " -I " + privateTestDir + params.bam + params.args + + " --no_pg_tag" + " -o %s", Arrays.asList(params.md5)); executeTest("testPrintReads-"+params.args, spec).getFirst(); diff --git a/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsUnitTest.java b/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsUnitTest.java index f65374918..c9c126295 100644 --- a/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/gatk/walkers/readutils/PrintReadsUnitTest.java @@ -30,7 +30,7 @@ import net.sf.samtools.SAMRecord; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.utils.sam.ArtificialReadsTraversal; -import org.broadinstitute.sting.utils.sam.ArtificialSAMFileWriter; +import org.broadinstitute.sting.utils.sam.ArtificialStingSAMFileWriter; import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.testng.annotations.BeforeMethod; @@ -85,7 +85,7 @@ public class PrintReadsUnitTest extends BaseTest { //private ReferenceContext ref = new ReferenceContext() org.broadinstitute.sting.gatk.walkers.readutils.PrintReads walker; - ArtificialSAMFileWriter writer; + ArtificialStingSAMFileWriter writer; @BeforeMethod public void before() { @@ -93,8 +93,7 @@ public class PrintReadsUnitTest extends BaseTest { readTotal = ( ( trav.endingChr - trav.startingChr ) + 1 ) * trav.readsPerChr + trav.unMappedReads; walker = new org.broadinstitute.sting.gatk.walkers.readutils.PrintReads(); - writer = new ArtificialSAMFileWriter(); - walker.out = writer; + writer = new ArtificialStingSAMFileWriter(); walker.initialize(); } @@ -121,7 +120,4 @@ public class PrintReadsUnitTest extends BaseTest { assertTrue(ret == rec); assertTrue(ret.getReadName().equals(rec.getReadName())); } - - - } diff --git a/public/java/test/org/broadinstitute/sting/utils/GenomeLocSortedSetUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/GenomeLocSortedSetUnitTest.java index 36e17de80..443cf2771 100644 --- a/public/java/test/org/broadinstitute/sting/utils/GenomeLocSortedSetUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/GenomeLocSortedSetUnitTest.java @@ -28,18 +28,21 @@ package org.broadinstitute.sting.utils; import net.sf.samtools.SAMFileHeader; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; import static org.testng.Assert.assertEquals; import static org.testng.Assert.assertFalse; import static org.testng.Assert.assertTrue; +import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.BeforeMethod; +import org.testng.annotations.DataProvider; import org.testng.annotations.Test; -import java.util.Iterator; -import java.util.Arrays; +import java.io.File; +import java.util.*; /** * @@ -114,11 +117,31 @@ public class GenomeLocSortedSetUnitTest extends BaseTest { GenomeLoc f = genomeLocParser.createGenomeLoc(contigOneName, 30, 80); mSortedSet.addRegion(f); assertTrue(mSortedSet.size() == 1); - } + @Test + public void addRegionsOutOfOrder() { + final String contigTwoName = header.getSequenceDictionary().getSequence(2).getSequenceName(); + assertTrue(mSortedSet.size() == 0); + GenomeLoc g = genomeLocParser.createGenomeLoc(contigTwoName, 1, 50); + mSortedSet.add(g); + GenomeLoc f = genomeLocParser.createGenomeLoc(contigOneName, 30, 80); + mSortedSet.addRegion(f); + assertTrue(mSortedSet.size() == 2); + assertTrue(mSortedSet.toList().get(0).getContig().equals(contigOneName)); + assertTrue(mSortedSet.toList().get(1).getContig().equals(contigTwoName)); + } - @Test(expectedExceptions=ReviewedStingException.class) + @Test(expectedExceptions = IllegalArgumentException.class) + public void addThrowsException() { + assertTrue(mSortedSet.size() == 0); + GenomeLoc g = genomeLocParser.createGenomeLoc(contigOneName, 1, 50); + mSortedSet.add(g); + GenomeLoc f = genomeLocParser.createGenomeLoc(contigOneName, 30, 80); + mSortedSet.add(f); + } + + @Test(expectedExceptions=IllegalArgumentException.class) public void testAddDuplicate() { assertTrue(mSortedSet.size() == 0); GenomeLoc g = genomeLocParser.createGenomeLoc(contigOneName, 0, 0); @@ -138,9 +161,9 @@ public class GenomeLocSortedSetUnitTest extends BaseTest { assertTrue(mSortedSet.size() == 1); Iterator iter = mSortedSet.iterator(); GenomeLoc loc = iter.next(); - assertTrue(loc.getStart() == 0); - assertTrue(loc.getStop() == 100); - assertTrue(loc.getContigIndex() == 1); + assertEquals(loc.getStart(), 0); + assertEquals(loc.getStop(), 100); + assertEquals(loc.getContigIndex(), 1); } @Test @@ -189,9 +212,9 @@ public class GenomeLocSortedSetUnitTest extends BaseTest { assertTrue(mSortedSet.size() == 1); Iterator iter = mSortedSet.iterator(); GenomeLoc loc = iter.next(); - assertTrue(loc.getStart() == 0); - assertTrue(loc.getStop() == 100); - assertTrue(loc.getContigIndex() == 1); + assertEquals(loc.getStart(), 0); + assertEquals(loc.getStop(), 100); + assertEquals(loc.getContigIndex(), 1); } @Test @@ -321,4 +344,62 @@ public class GenomeLocSortedSetUnitTest extends BaseTest { } assertTrue(seqNumber == GenomeLocSortedSetUnitTest.NUMBER_OF_CHROMOSOMES); } + + // ----------------------------------------------------------------------------------------------- + // + // Test getOverlapping + // + // ----------------------------------------------------------------------------------------------- + + @DataProvider(name = "GetOverlapping") + public Object[][] makeGetOverlappingTest() throws Exception { + final GenomeLocParser genomeLocParser = new GenomeLocParser(new CachingIndexedFastaSequenceFile(new File(b37KGReference))); + + List tests = new ArrayList(); + + final GenomeLoc prev1 = genomeLocParser.createGenomeLoc("19", 1, 10); + final GenomeLoc prev2 = genomeLocParser.createGenomeLoc("19", 20, 50); + final GenomeLoc post1 = genomeLocParser.createGenomeLoc("21", 1, 10); + final GenomeLoc post2 = genomeLocParser.createGenomeLoc("21", 20, 50); + + final int chr20Length = genomeLocParser.getContigs().getSequence("20").getSequenceLength(); + for ( final int regionStart : Arrays.asList(1, 10, chr20Length - 10, chr20Length) ) { + for ( final int regionSize : Arrays.asList(1, 10, 100) ) { + final GenomeLoc region = genomeLocParser.createGenomeLocOnContig("20", regionStart, regionStart + regionSize); + final GenomeLoc spanning = genomeLocParser.createGenomeLocOnContig("20", regionStart - 10, region.getStop() + 10); + final GenomeLoc before_into = genomeLocParser.createGenomeLocOnContig("20", regionStart - 10, regionStart + 1); + final GenomeLoc middle = genomeLocParser.createGenomeLocOnContig("20", regionStart + 1, regionStart + 2); + final GenomeLoc middle_past = genomeLocParser.createGenomeLocOnContig("20", region.getStop()-1, region.getStop()+10); + + final List potentials = new LinkedList(); + potentials.add(region); + if ( spanning != null ) potentials.add(spanning); + if ( before_into != null ) potentials.add(before_into); + if ( middle != null ) potentials.add(middle); + if ( middle_past != null ) potentials.add(middle_past); + + for ( final int n : Arrays.asList(1, 2, 3) ) { + for ( final List regions : Utils.makePermutations(potentials, n, false) ) { + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, regions), region}); + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, Utils.append(regions, prev1)), region}); + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, Utils.append(regions, prev1, prev2)), region}); + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, Utils.append(regions, post1)), region}); + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, Utils.append(regions, post1, post2)), region}); + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, Utils.append(regions, prev1, post1)), region}); + tests.add(new Object[]{new GenomeLocSortedSet(genomeLocParser, Utils.append(regions, prev1, prev2, post1, post2)), region}); + } + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "GetOverlapping") + public void testGetOverlapping(final GenomeLocSortedSet intervals, final GenomeLoc region) { + final List expectedOverlapping = intervals.getOverlappingFullSearch(region); + final List actualOverlapping = intervals.getOverlapping(region); + Assert.assertEquals(actualOverlapping, expectedOverlapping); + Assert.assertEquals(intervals.overlaps(region), ! expectedOverlapping.isEmpty(), "GenomeLocSortedSet.overlaps didn't return expected result"); + } } diff --git a/public/java/test/org/broadinstitute/sting/utils/GenomeLocUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/GenomeLocUnitTest.java index ed91114a4..c3ab22b4c 100644 --- a/public/java/test/org/broadinstitute/sting/utils/GenomeLocUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/GenomeLocUnitTest.java @@ -29,23 +29,23 @@ package org.broadinstitute.sting.utils; // the imports for unit testing. +import net.sf.picard.reference.ReferenceSequenceFile; +import net.sf.samtools.SAMFileHeader; +import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.interval.IntervalMergingRule; import org.broadinstitute.sting.utils.interval.IntervalUtils; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; -import org.broadinstitute.sting.BaseTest; -import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import java.io.File; import java.io.FileNotFoundException; import java.util.*; -import net.sf.picard.reference.ReferenceSequenceFile; -import net.sf.picard.reference.IndexedFastaSequenceFile; - /** * Basic unit test for GenomeLoc */ @@ -343,4 +343,44 @@ public class GenomeLocUnitTest extends BaseTest { Assert.assertEquals(result1.getStop(), locs.get(locs.size() - 1).getStop()); } + // ------------------------------------------------------------------------------------- + // + // testing distance functionality + // + // ------------------------------------------------------------------------------------- + + @Test(enabled=true) + public void testDistanceAcrossContigs() { + final int chrSize = 1000; + SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(10, 0, chrSize); + GenomeLocParser parser = new GenomeLocParser(header.getSequenceDictionary()); + GenomeLoc loc1 = parser.createGenomeLoc("chr3", 500); // to check regular case + GenomeLoc loc2 = parser.createGenomeLoc("chr7", 200); // to check regular case + GenomeLoc loc3 = parser.createGenomeLoc("chr0", 1); // to check corner case + GenomeLoc loc4 = parser.createGenomeLoc("chr9", 1000);// to check corner case + GenomeLoc loc5 = parser.createGenomeLoc("chr7", 500); // to make sure it does the right thing when in the same chromosome + + GenomeLoc loc6 = parser.createGenomeLoc("chr7", 200, 300); + GenomeLoc loc7 = parser.createGenomeLoc("chr7", 500, 600); + GenomeLoc loc8 = parser.createGenomeLoc("chr9", 500, 600); + + // Locus comparisons + Assert.assertEquals(loc1.distanceAcrossContigs(loc2, header), 3*chrSize + chrSize-loc1.getStop() + loc2.getStart()); // simple case, smaller first + Assert.assertEquals(loc2.distanceAcrossContigs(loc1, header), 3*chrSize + chrSize-loc1.getStop() + loc2.getStart()); // simple case, bigger first + + Assert.assertEquals(loc3.distanceAcrossContigs(loc4, header), 10*chrSize - 1); // corner case, smaller first + Assert.assertEquals(loc4.distanceAcrossContigs(loc3, header), 10*chrSize - 1); // corner case, bigger first + + Assert.assertEquals(loc2.distanceAcrossContigs(loc5, header), 300); // same contig, smaller first + Assert.assertEquals(loc5.distanceAcrossContigs(loc2, header), 300); // same contig, bigger first + + // Interval comparisons + Assert.assertEquals(loc6.distanceAcrossContigs(loc7, header), 200); // same contig, smaller first + Assert.assertEquals(loc7.distanceAcrossContigs(loc6, header), 200); // same contig, bigger first + + Assert.assertEquals(loc7.distanceAcrossContigs(loc8, header), chrSize + chrSize-loc7.stop + loc8.getStart()); // across contigs, smaller first + Assert.assertEquals(loc8.distanceAcrossContigs(loc7, header), chrSize + chrSize-loc7.stop + loc8.getStart()); // across congits, bigger first + + } + } diff --git a/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java index 1b16266a9..0e4ec2b63 100644 --- a/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/HaplotypeUnitTest.java @@ -26,9 +26,11 @@ package org.broadinstitute.sting.utils; +import net.sf.picard.util.CigarUtil; import net.sf.samtools.Cigar; import net.sf.samtools.CigarElement; import net.sf.samtools.CigarOperator; +import net.sf.samtools.TextCigarCodec; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.variant.variantcontext.Allele; import org.broadinstitute.variant.variantcontext.VariantContext; @@ -163,4 +165,22 @@ public class HaplotypeUnitTest extends BaseTest { final Haplotype h1expected = new Haplotype(newHap.getBytes()); Assert.assertEquals(h1, h1expected); } + + private Haplotype makeHCForCigar(final String bases, final String cigar) { + final Haplotype h = new Haplotype(bases.getBytes()); + h.setCigar(TextCigarCodec.getSingleton().decode(cigar)); + return h; + } + + @Test + public void testConsolidateCigar() throws Exception { + Assert.assertEquals(makeHCForCigar("AGCT", "4M").getConsolidatedPaddedCigar(0).toString(), "4M"); + Assert.assertEquals(makeHCForCigar("AGCT", "4M").getConsolidatedPaddedCigar(1).toString(), "5M"); + Assert.assertEquals(makeHCForCigar("AGCT", "1M1I1I1M").getConsolidatedPaddedCigar(0).toString(), "1M2I1M"); + Assert.assertEquals(makeHCForCigar("AGCT", "1M1I1I1M").getConsolidatedPaddedCigar(1).toString(), "1M2I2M"); + Assert.assertEquals(makeHCForCigar("AGCT", "1M1I1I1M").getConsolidatedPaddedCigar(2).toString(), "1M2I3M"); + Assert.assertEquals(makeHCForCigar("AGCT", "1M1I1I1I").getConsolidatedPaddedCigar(0).toString(), "1M3I"); + Assert.assertEquals(makeHCForCigar("AGCT", "1M1I1I1I").getConsolidatedPaddedCigar(1).toString(), "1M3I1M"); + Assert.assertEquals(makeHCForCigar("AGCT", "1M1I1I1I").getConsolidatedPaddedCigar(2).toString(), "1M3I2M"); + } } diff --git a/public/java/test/org/broadinstitute/sting/utils/NGSPlatformUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/NGSPlatformUnitTest.java new file mode 100644 index 000000000..ea4d0cc66 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/NGSPlatformUnitTest.java @@ -0,0 +1,167 @@ +/* + * Copyright (c) 2012 The Broad Institute + * + * Permission is hereby granted, free of charge, to any person + * obtaining a copy of this software and associated documentation + * files (the "Software"), to deal in the Software without + * restriction, including without limitation the rights to use, + * copy, modify, merge, publish, distribute, sublicense, and/or sell + * copies of the Software, and to permit persons to whom the + * Software is furnished to do so, subject to the following + * conditions: + * + * The above copyright notice and this permission notice shall be + * included in all copies or substantial portions of the Software. + * + * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, + * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES + * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND + * NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT + * HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, + * WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING + * FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR + * THE USE OR OTHER DEALINGS IN THE SOFTWARE. + */ + +package org.broadinstitute.sting.utils; + + +// the imports for unit testing. + + +import net.sf.picard.reference.IndexedFastaSequenceFile; +import net.sf.samtools.SAMFileHeader; +import net.sf.samtools.SAMReadGroupRecord; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.testng.Assert; +import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.FileNotFoundException; +import java.util.ArrayList; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +public class NGSPlatformUnitTest extends BaseTest { + // example genome loc parser for this test, can be deleted if you don't use the reference + private GenomeLocParser genomeLocParser; + + // example fasta index file, can be deleted if you don't use the reference + private IndexedFastaSequenceFile seq; + + @BeforeClass + public void setup() throws FileNotFoundException { + // sequence + seq = new CachingIndexedFastaSequenceFile(new File(b37KGReference)); + genomeLocParser = new GenomeLocParser(seq); + } + + @DataProvider(name = "TestPrimary") + public Object[][] makeTestPrimary() { + List tests = new ArrayList(); + + for ( final NGSPlatform pl : NGSPlatform.values() ) { + tests.add(new Object[]{pl, pl.BAM_PL_NAMES[0]}); + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "TestPrimary") + public void testPrimary(final NGSPlatform pl, final String expectedPrimaryName) { + Assert.assertEquals(pl.getDefaultPlatform(), expectedPrimaryName, "Failed primary test for " + pl); + } + + // make sure common names in BAMs are found + @DataProvider(name = "TestMappings") + public Object[][] makeTestMappings() { + List tests = new ArrayList(); + + final Map expected = new HashMap(); + // VALID VALUES ACCORDING TO SAM SPEC: https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CC8QFjAA&url=http%3A%2F%2Fsamtools.sourceforge.net%2FSAM1.pdf&ei=Dm8WUbXAEsi10QHYqoDwDQ&usg=AFQjCNFkMtvEi6LeiKgpxQGtHTlqWKw2yw&bvm=bv.42080656,d.dmQ + expected.put("CAPILLARY", NGSPlatform.CAPILLARY); + expected.put("LS454", NGSPlatform.LS454); + expected.put("ILLUMINA", NGSPlatform.ILLUMINA); + expected.put("SOLID", NGSPlatform.SOLID); + expected.put("HELICOS", NGSPlatform.HELICOS); + expected.put("IONTORRENT", NGSPlatform.ION_TORRENT); + expected.put("PACBIO", NGSPlatform.PACBIO); + // other commonly seen values out in the wild + expected.put("SLX", NGSPlatform.ILLUMINA); + expected.put("SOLEXA", NGSPlatform.ILLUMINA); + expected.put("454", NGSPlatform.LS454); + expected.put("COMPLETE", NGSPlatform.COMPLETE_GENOMICS); + // unknown platforms should map to unknown + expected.put("MARKS_GENOMICS_TECH", NGSPlatform.UNKNOWN); + expected.put("RANDOM_PL_VALUE", NGSPlatform.UNKNOWN); + // critical -- a null platform maps to unknown + expected.put(null, NGSPlatform.UNKNOWN); + + for ( final Map.Entry one : expected.entrySet() ) { + tests.add(new Object[]{one.getKey(), one.getValue()}); + + if ( one.getKey() != null ) { + // make sure we're case insensitive + tests.add(new Object[]{one.getKey().toLowerCase(), one.getValue()}); + tests.add(new Object[]{one.getKey().toUpperCase(), one.getValue()}); + + // make sure appending GENOMICS works (required for COMPLETE mapping + tests.add(new Object[]{one.getKey() + " GENOMICS", one.getValue()}); + // make sure that random junk works correctly + tests.add(new Object[]{one.getKey() + " asdfa", one.getValue()}); + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "TestMappings") + public void testMappings(final String plField, final NGSPlatform expected) { + Assert.assertEquals(NGSPlatform.fromReadGroupPL(plField), expected, "Failed primary test for " + plField + " mapping to " + expected); + } + + @Test(dataProvider = "TestMappings") + public void testKnown(final String plField, final NGSPlatform expected) { + Assert.assertEquals(NGSPlatform.isKnown(plField), expected != NGSPlatform.UNKNOWN, "Failed isKnown test for " + plField + " mapping to " + expected); + } + + /** + * A unit test that creates an artificial read for testing some code that uses reads + */ + @Test(dataProvider = "TestMappings") + public void testPLFromReadWithRG(final String plField, final NGSPlatform expected) { + final SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(seq.getSequenceDictionary()); + final String rgID = "ID"; + final SAMReadGroupRecord rg = new SAMReadGroupRecord(rgID); + if ( plField != null ) + rg.setPlatform(plField); + header.addReadGroup(rg); + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, 10); + read.setAttribute("RG", rgID); + Assert.assertEquals(NGSPlatform.fromRead(read), expected); + } + + @Test() + public void testPLFromReadWithRGButNoPL() { + final SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(seq.getSequenceDictionary()); + final String rgID = "ID"; + final SAMReadGroupRecord rg = new SAMReadGroupRecord(rgID); + header.addReadGroup(rg); + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, 10); + read.setAttribute("RG", rgID); + Assert.assertEquals(NGSPlatform.fromRead(read), NGSPlatform.UNKNOWN); + } + + @Test + public void testReadWithoutRG() { + final SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(seq.getSequenceDictionary()); + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, 10); + Assert.assertEquals(NGSPlatform.fromRead(read), NGSPlatform.UNKNOWN); + } +} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/QualityUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/QualityUtilsUnitTest.java index 997c8750c..f5c7a14df 100644 --- a/public/java/test/org/broadinstitute/sting/utils/QualityUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/QualityUtilsUnitTest.java @@ -34,6 +34,7 @@ package org.broadinstitute.sting.utils; import org.broadinstitute.sting.BaseTest; import org.testng.Assert; import org.testng.annotations.BeforeClass; +import org.testng.annotations.DataProvider; import org.testng.annotations.Test; import java.util.*; @@ -42,10 +43,76 @@ import java.util.*; * Basic unit test for QualityUtils class */ public class QualityUtilsUnitTest extends BaseTest { + final private static double TOLERANCE = 1e-9; + @BeforeClass public void init() { } + @DataProvider(name = "QualTest") + public Object[][] makeMyDataProvider() { + List tests = new ArrayList(); + + for ( int qual = 0; qual < 255; qual++ ) { + tests.add(new Object[]{(byte)(qual & 0xFF), Math.pow(10.0, ((double)qual)/-10.0)}); + } + + return tests.toArray(new Object[][]{}); + } + + /** + * Example testng test using MyDataProvider + */ + @Test(dataProvider = "QualTest") + public void testMyData(final byte qual, final double errorRate) { + final double trueRate = 1 - errorRate; + + final double actualErrorRate = QualityUtils.qualToErrorProb(qual); + Assert.assertEquals(actualErrorRate, errorRate, TOLERANCE); + final double actualTrueRate = QualityUtils.qualToProb(qual); + Assert.assertEquals(actualTrueRate, trueRate, TOLERANCE); + + // log10 tests + final double actualLog10ErrorRate = QualityUtils.qualToErrorProbLog10(qual); + Assert.assertEquals(actualLog10ErrorRate, Math.log10(errorRate), TOLERANCE); + final double actualLog10TrueRate = QualityUtils.qualToProbLog10(qual); + Assert.assertEquals(actualLog10TrueRate, Math.log10(trueRate), TOLERANCE); + + // test that we can convert our error rates to quals, accounting for boundaries + final int expectedQual = Math.max(Math.min(qual & 0xFF, QualityUtils.MAX_SAM_QUAL_SCORE), 1); + final byte actualQual = QualityUtils.trueProbToQual(trueRate); + Assert.assertEquals(actualQual, expectedQual & 0xFF); + final byte actualQualFromErrorRate = QualityUtils.errorProbToQual(errorRate); + Assert.assertEquals(actualQualFromErrorRate, expectedQual & 0xFF); + + for ( int maxQual = 10; maxQual < QualityUtils.MAX_SAM_QUAL_SCORE; maxQual++ ) { + final byte maxAsByte = (byte)(maxQual & 0xFF); + final byte expectedQual2 = (byte)(Math.max(Math.min(qual & 0xFF, maxQual), 1) & 0xFF); + final byte actualQual2 = QualityUtils.trueProbToQual(trueRate, maxAsByte); + Assert.assertEquals(actualQual2, expectedQual2, "Failed with max " + maxQual); + final byte actualQualFromErrorRate2 = QualityUtils.errorProbToQual(errorRate, maxAsByte); + Assert.assertEquals(actualQualFromErrorRate2, expectedQual2, "Failed with max " + maxQual); + + // test the integer routines + final byte actualQualInt2 = QualityUtils.trueProbToQual(trueRate, maxQual); + Assert.assertEquals(actualQualInt2, expectedQual2, "Failed with max " + maxQual); + final byte actualQualFromErrorRateInt2 = QualityUtils.errorProbToQual(errorRate, maxQual); + Assert.assertEquals(actualQualFromErrorRateInt2, expectedQual2, "Failed with max " + maxQual); + } + } + + @Test + public void testTrueProbWithMinDouble() { + final byte actual = QualityUtils.trueProbToQual(Double.MIN_VALUE); + Assert.assertEquals(actual, 1, "Failed to convert true prob of min double to 1 qual"); + } + + @Test + public void testTrueProbWithVerySmallValue() { + final byte actual = QualityUtils.trueProbToQual(1.7857786272673852E-19); + Assert.assertEquals(actual, 1, "Failed to convert true prob of very small value 1.7857786272673852E-19 to 1 qual"); + } + @Test public void testQualCaches() { Assert.assertEquals(QualityUtils.qualToErrorProb((byte) 20), 0.01, 1e-6); @@ -63,4 +130,59 @@ public class QualityUtilsUnitTest extends BaseTest { Assert.assertEquals(QualityUtils.qualToProb((byte) 40), 0.9999, 1e-6); Assert.assertEquals(QualityUtils.qualToProbLog10((byte) 40), -4.34316198e-5, 1e-6); } + + @Test() + public void testBoundingDefault() { + for ( int qual = 0; qual < 1000; qual++ ) { + final byte expected = (byte)Math.max(Math.min(qual, QualityUtils.MAX_SAM_QUAL_SCORE), 1); + Assert.assertEquals(QualityUtils.boundQual(qual), expected); + } + } + + @Test() + public void testBoundingWithMax() { + for ( int max = 10; max < 255; max += 50 ) { + for ( int qual = 0; qual < 1000; qual++ ) { + final int expected = Math.max(Math.min(qual, max), 1); + Assert.assertEquals(QualityUtils.boundQual(qual, (byte)(max & 0xFF)) & 0xFF, expected & 0xFF, "qual " + qual + " max " + max); + } + } + } + + @DataProvider(name = "PhredScaleDoubleOps") + public Object[][] makePhredDoubleTest() { + List tests = new ArrayList(); + + tests.add(new Object[]{0.0, -10 * Math.log10(Double.MIN_VALUE)}); + tests.add(new Object[]{1.0, 0.0}); + for ( int pow = 1; pow < 20; pow++ ) { + tests.add(new Object[]{Math.pow(10.0, -1.0 * pow), pow * 10}); + tests.add(new Object[]{Math.pow(10.0, -1.5 * pow), pow * 15}); + } + + return tests.toArray(new Object[][]{}); + } + + @Test() + public void testQualToErrorProbDouble() { + for ( double qual = 3.0; qual < 255.0; qual += 0.1 ) { + final double expected = Math.pow(10.0, qual / -10.0); + Assert.assertEquals(QualityUtils.qualToErrorProb(qual), expected, TOLERANCE, "failed qual->error prob for double qual " + qual); + } + } + + + @Test(dataProvider = "PhredScaleDoubleOps") + public void testPhredScaleDoubleOps(final double errorRate, final double expectedPhredScaled) { + final double actualError = QualityUtils.phredScaleErrorRate(errorRate); + Assert.assertEquals(actualError, expectedPhredScaled, TOLERANCE); + final double trueRate = 1 - errorRate; + final double actualTrue = QualityUtils.phredScaleCorrectRate(trueRate); + if ( trueRate == 1.0 ) { + Assert.assertEquals(actualTrue, QualityUtils.MIN_PHRED_SCALED_QUAL); + } else { + final double tol = errorRate < 1e-10 ? 10.0 : 1e-3; + Assert.assertEquals(actualTrue, expectedPhredScaled, tol); + } + } } \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/SequenceDictionaryUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/SequenceDictionaryUtilsUnitTest.java new file mode 100644 index 000000000..a95b5b6ce --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/SequenceDictionaryUtilsUnitTest.java @@ -0,0 +1,241 @@ +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + +package org.broadinstitute.sting.utils; + +import net.sf.samtools.SAMSequenceDictionary; +import net.sf.samtools.SAMSequenceRecord; +import org.apache.log4j.Logger; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.gatk.arguments.ValidationExclusion; +import org.broadinstitute.sting.utils.exceptions.UserException; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; +import org.testng.Assert; + +import static org.broadinstitute.sting.utils.SequenceDictionaryUtils.*; +import static org.broadinstitute.sting.utils.SequenceDictionaryUtils.SequenceDictionaryCompatibility.*; + +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; + +public class SequenceDictionaryUtilsUnitTest extends BaseTest { + + private static Logger logger = Logger.getLogger(SequenceDictionaryUtilsUnitTest.class); + + + @DataProvider( name = "SequenceDictionaryDataProvider" ) + public Object[][] generateSequenceDictionaryTestData() { + final SAMSequenceRecord CHRM_HG19 = new SAMSequenceRecord("chrM", 16571); + final SAMSequenceRecord CHR_NONSTANDARD1 = new SAMSequenceRecord("NonStandard1", 8675309); + final SAMSequenceRecord CHR_NONSTANDARD2 = new SAMSequenceRecord("NonStandard2", 8675308); + + final Class NO_COMMON_CONTIGS_EXCEPTION = UserException.IncompatibleSequenceDictionaries.class; + final Class UNEQUAL_COMMON_CONTIGS_EXCEPTION = UserException.IncompatibleSequenceDictionaries.class; + final Class NON_CANONICAL_HUMAN_ORDER_EXCEPTION = UserException.LexicographicallySortedSequenceDictionary.class; + final Class OUT_OF_ORDER_EXCEPTION = UserException.IncompatibleSequenceDictionaries.class; + final Class DIFFERENT_INDICES_EXCEPTION = UserException.IncompatibleSequenceDictionaries.class; + + final List hg19Sequences = Arrays.asList(CHRM_HG19, CHR1_HG19, CHR2_HG19, CHR10_HG19); + final GenomeLocParser hg19GenomeLocParser = new GenomeLocParser(new SAMSequenceDictionary(hg19Sequences)); + final List hg19AllContigsIntervals = Arrays.asList(hg19GenomeLocParser.createGenomeLoc("chrM", 0, 1), + hg19GenomeLocParser.createGenomeLoc("chr1", 0, 1), + hg19GenomeLocParser.createGenomeLoc("chr2", 0, 1), + hg19GenomeLocParser.createGenomeLoc("chr10", 0, 1)); + final List hg19PartialContigsIntervals = Arrays.asList(hg19GenomeLocParser.createGenomeLoc("chrM", 0, 1), + hg19GenomeLocParser.createGenomeLoc("chr1", 0, 1)); + final GenomeLocSortedSet hg19AllContigsIntervalSet = new GenomeLocSortedSet(hg19GenomeLocParser, hg19AllContigsIntervals); + final GenomeLocSortedSet hg19PartialContigsIntervalSet = new GenomeLocSortedSet(hg19GenomeLocParser, hg19PartialContigsIntervals); + + return new Object[][] { + // Identical dictionaries: + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR1_HG19), null, IDENTICAL, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), null, IDENTICAL, null, false, null }, + { Arrays.asList(CHR1_B37), Arrays.asList(CHR1_B37), null, IDENTICAL, null, false, null }, + { Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37), Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37), null, IDENTICAL, null, false, null }, + + // Dictionaries with a common subset: + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR1_HG19, CHR_NONSTANDARD1), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR_NONSTANDARD1), Arrays.asList(CHR1_HG19, CHR_NONSTANDARD2), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR_NONSTANDARD1, CHR1_HG19), Arrays.asList(CHR_NONSTANDARD2, CHR1_HG19), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR_NONSTANDARD1, CHR1_HG19), Arrays.asList(CHR_NONSTANDARD2, CHR1_HG19, CHRM_HG19), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19, CHR_NONSTANDARD1), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19, CHR_NONSTANDARD2), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19, CHR_NONSTANDARD1), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19, CHR_NONSTANDARD1), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR_NONSTANDARD1, CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR_NONSTANDARD2, CHR1_HG19, CHR2_HG19, CHR10_HG19), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR_NONSTANDARD1, CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR_NONSTANDARD2, CHR1_HG19, CHR2_HG19, CHR10_HG19, CHRM_HG19), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37, CHR_NONSTANDARD1), Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37, CHR_NONSTANDARD2), null, COMMON_SUBSET, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), null, COMMON_SUBSET, null, false, null }, + + // Dictionaries with no common contigs: + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR2_HG19), null, NO_COMMON_CONTIGS, NO_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR1_B37), null, NO_COMMON_CONTIGS, NO_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37), null, NO_COMMON_CONTIGS, NO_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37), null, NO_COMMON_CONTIGS, NO_COMMON_CONTIGS_EXCEPTION, false, null }, + + // Dictionaries with unequal common contigs: + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR1_HG18), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_B36), Arrays.asList(CHR1_B37), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR1_HG18, CHR2_HG18, CHR10_HG18), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_B37, CHR2_B37, CHR10_B37), Arrays.asList(CHR1_B36, CHR2_B36, CHR10_B36), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19, CHR_NONSTANDARD1), Arrays.asList(CHR1_HG18, CHR2_HG18, CHR10_HG18, CHR_NONSTANDARD2), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR_NONSTANDARD1, CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR_NONSTANDARD2, CHR1_HG18, CHR2_HG18, CHR10_HG18), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHR1_HG18, CHR2_HG18, CHR10_HG18), null, UNEQUAL_COMMON_CONTIGS, UNEQUAL_COMMON_CONTIGS_EXCEPTION, false, null }, + + // One or both dictionaries in non-canonical human order: + { Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), null, NON_CANONICAL_HUMAN_ORDER, NON_CANONICAL_HUMAN_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG18, CHR10_HG18, CHR2_HG18), Arrays.asList(CHR1_HG18, CHR10_HG18, CHR2_HG18), null, NON_CANONICAL_HUMAN_ORDER, NON_CANONICAL_HUMAN_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), null, NON_CANONICAL_HUMAN_ORDER, NON_CANONICAL_HUMAN_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), null, NON_CANONICAL_HUMAN_ORDER, NON_CANONICAL_HUMAN_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHR1_B37, CHR10_B37, CHR2_B37), Arrays.asList(CHR1_B37, CHR10_B37, CHR2_B37), null, NON_CANONICAL_HUMAN_ORDER, NON_CANONICAL_HUMAN_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHR1_B36, CHR10_B36, CHR2_B36), Arrays.asList(CHR1_B36, CHR10_B36, CHR2_B36), null, NON_CANONICAL_HUMAN_ORDER, NON_CANONICAL_HUMAN_ORDER_EXCEPTION, false, null }, + + // Dictionaries with a common subset, but different relative ordering within that subset: + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHR2_HG19, CHR1_HG19), null, OUT_OF_ORDER, OUT_OF_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHRM_HG19, CHR1_HG19, CHR2_HG19), Arrays.asList(CHR2_HG19, CHR1_HG19, CHRM_HG19), null, OUT_OF_ORDER, OUT_OF_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHRM_HG19, CHR1_HG19, CHR2_HG19), Arrays.asList(CHRM_HG19, CHR2_HG19, CHR1_HG19), null, OUT_OF_ORDER, OUT_OF_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHRM_HG19, CHR1_HG19, CHR2_HG19), Arrays.asList(CHR2_HG19, CHRM_HG19, CHR1_HG19), null, OUT_OF_ORDER, OUT_OF_ORDER_EXCEPTION, false, null }, + { Arrays.asList(CHR1_B37, CHR2_B37), Arrays.asList(CHR2_B37, CHR1_B37), null, OUT_OF_ORDER, OUT_OF_ORDER_EXCEPTION, false, null }, + + + // Dictionaries with a common subset in the same relative order, but with different indices. + // This will only throw an exception during validation if isReadsToReferenceComparison is true, + // and there are intervals overlapping the misindexed contigs: + + // These have isReadsToReferenceComparison == true and overlapping intervals, so we expect an exception: + { Arrays.asList(CHRM_HG19, CHR1_HG19), Arrays.asList(CHR1_HG19), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHRM_HG19, CHR1_HG19, CHR2_HG19), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHRM_HG19, CHR1_HG19, CHR2_HG19, CHR_NONSTANDARD1), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHRM_HG19, CHR_NONSTANDARD1, CHR1_HG19, CHR2_HG19), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR_NONSTANDARD1, CHRM_HG19 ), Arrays.asList(CHR1_HG19, CHR2_HG19, CHRM_HG19), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR2_HG19, CHR_NONSTANDARD1, CHRM_HG19, CHR_NONSTANDARD2 ), Arrays.asList(CHR1_HG19, CHR2_HG19, CHRM_HG19, CHR_NONSTANDARD2 ), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR_NONSTANDARD1, CHR2_HG19, CHRM_HG19, CHR_NONSTANDARD2 ), Arrays.asList(CHR1_HG19, CHR2_HG19, CHRM_HG19, CHR_NONSTANDARD2 ), null, DIFFERENT_INDICES, DIFFERENT_INDICES_EXCEPTION, true, hg19AllContigsIntervalSet }, + + // These have isReadsToReferenceComparison == true but no overlapping intervals, so we don't expect an exception: + { Arrays.asList(CHR2_HG19, CHR10_HG19), Arrays.asList(CHR10_HG19), null, DIFFERENT_INDICES, null, true, hg19PartialContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR_NONSTANDARD1, CHR2_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19), null, DIFFERENT_INDICES, null, true, hg19PartialContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR_NONSTANDARD1, CHR2_HG19, CHR10_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19, CHR10_HG19), null, DIFFERENT_INDICES, null, true, hg19PartialContigsIntervalSet }, + + // These have isReadsToReferenceComparison == false, so we don't expect an exception: + { Arrays.asList(CHRM_HG19, CHR1_HG19), Arrays.asList(CHR1_HG19), null, DIFFERENT_INDICES, null, false, hg19AllContigsIntervalSet }, + { Arrays.asList(CHR1_HG19, CHR_NONSTANDARD1, CHR2_HG19, CHRM_HG19), Arrays.asList(CHR1_HG19, CHR2_HG19, CHRM_HG19), null, DIFFERENT_INDICES, null, false, hg19AllContigsIntervalSet }, + + + // Tests for validation exclusions. Note that errors resulting from NO_COMMON_CONTIGs cannot be suppressed + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR2_HG19), ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY, NO_COMMON_CONTIGS, NO_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR2_HG19), ValidationExclusion.TYPE.ALL, NO_COMMON_CONTIGS, NO_COMMON_CONTIGS_EXCEPTION, false, null }, + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR1_HG18), ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY, UNEQUAL_COMMON_CONTIGS, null, false, null }, + { Arrays.asList(CHR1_HG19), Arrays.asList(CHR1_HG18), ValidationExclusion.TYPE.ALL, UNEQUAL_COMMON_CONTIGS, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY, NON_CANONICAL_HUMAN_ORDER, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), Arrays.asList(CHR1_HG19, CHR10_HG19, CHR2_HG19), ValidationExclusion.TYPE.ALL, NON_CANONICAL_HUMAN_ORDER, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHR2_HG19, CHR1_HG19), ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY, OUT_OF_ORDER, null, false, null }, + { Arrays.asList(CHR1_HG19, CHR2_HG19), Arrays.asList(CHR2_HG19, CHR1_HG19), ValidationExclusion.TYPE.ALL, OUT_OF_ORDER, null, false, null }, + { Arrays.asList(CHRM_HG19, CHR1_HG19), Arrays.asList(CHR1_HG19), ValidationExclusion.TYPE.ALLOW_SEQ_DICT_INCOMPATIBILITY, DIFFERENT_INDICES, null, true, hg19AllContigsIntervalSet }, + { Arrays.asList(CHRM_HG19, CHR1_HG19), Arrays.asList(CHR1_HG19), ValidationExclusion.TYPE.ALL, DIFFERENT_INDICES, null, true, hg19AllContigsIntervalSet } + }; + } + + @Test( dataProvider = "SequenceDictionaryDataProvider" ) + public void testSequenceDictionaryValidation( final List firstDictionaryContigs, + final List secondDictionaryContigs, + final ValidationExclusion.TYPE validationExclusions, + final SequenceDictionaryUtils.SequenceDictionaryCompatibility dictionaryCompatibility, + final Class expectedExceptionUponValidation, + final boolean isReadsToReferenceComparison, + final GenomeLocSortedSet intervals ) { + + final SAMSequenceDictionary firstDictionary = createSequenceDictionary(firstDictionaryContigs); + final SAMSequenceDictionary secondDictionary = createSequenceDictionary(secondDictionaryContigs); + final String testDescription = String.format("First dictionary: %s Second dictionary: %s Validation exclusions: %s", + SequenceDictionaryUtils.getDictionaryAsString(firstDictionary), + SequenceDictionaryUtils.getDictionaryAsString(secondDictionary), + validationExclusions); + + Exception exceptionThrown = null; + try { + SequenceDictionaryUtils.validateDictionaries(logger, + validationExclusions, + "firstDictionary", + firstDictionary, + "secondDictionary", + secondDictionary, + isReadsToReferenceComparison, + intervals); + } + catch ( Exception e ) { + exceptionThrown = e; + } + + if ( expectedExceptionUponValidation != null ) { + Assert.assertTrue(exceptionThrown != null && expectedExceptionUponValidation.isInstance(exceptionThrown), + String.format("Expected exception %s but saw %s instead. %s", + expectedExceptionUponValidation.getSimpleName(), + exceptionThrown == null ? "no exception" : exceptionThrown.getClass().getSimpleName(), + testDescription)); + } + else { + Assert.assertTrue(exceptionThrown == null, + String.format("Expected no exception but saw exception %s instead. %s", + exceptionThrown != null ? exceptionThrown.getClass().getSimpleName() : "none", + testDescription)); + } + } + + @Test( dataProvider = "SequenceDictionaryDataProvider" ) + public void testSequenceDictionaryComparison( final List firstDictionaryContigs, + final List secondDictionaryContigs, + final ValidationExclusion.TYPE validationExclusions, + final SequenceDictionaryUtils.SequenceDictionaryCompatibility dictionaryCompatibility, + final Class expectedExceptionUponValidation, + final boolean isReadsToReferenceComparison, + final GenomeLocSortedSet intervals ) { + + final SAMSequenceDictionary firstDictionary = createSequenceDictionary(firstDictionaryContigs); + final SAMSequenceDictionary secondDictionary = createSequenceDictionary(secondDictionaryContigs); + final String testDescription = String.format("First dictionary: %s Second dictionary: %s", + SequenceDictionaryUtils.getDictionaryAsString(firstDictionary), + SequenceDictionaryUtils.getDictionaryAsString(secondDictionary)); + + final SequenceDictionaryUtils.SequenceDictionaryCompatibility reportedCompatibility = + SequenceDictionaryUtils.compareDictionaries(firstDictionary, secondDictionary); + + Assert.assertTrue(reportedCompatibility == dictionaryCompatibility, + String.format("Dictionary comparison should have returned %s but instead returned %s. %s", + dictionaryCompatibility, reportedCompatibility, testDescription)); + } + + private SAMSequenceDictionary createSequenceDictionary( final List contigs ) { + final List clonedContigs = new ArrayList(contigs.size()); + + // Clone the individual SAMSequenceRecords to avoid contig-index issues with shared objects + // across multiple dictionaries in tests + for ( SAMSequenceRecord contig : contigs ) { + clonedContigs.add(contig.clone()); + } + + return new SAMSequenceDictionary(clonedContigs); + } +} diff --git a/public/java/test/org/broadinstitute/sting/utils/UtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/UtilsUnitTest.java index 29c643153..705db6f85 100644 --- a/public/java/test/org/broadinstitute/sting/utils/UtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/UtilsUnitTest.java @@ -75,6 +75,14 @@ public class UtilsUnitTest extends BaseTest { Assert.assertEquals(duped.charAt(0), 'b', "dupString character was incorrect"); } + @Test + public void testXor() { + Assert.assertEquals(Utils.xor(false, false), false, "xor F F failed"); + Assert.assertEquals(Utils.xor(false, true), true, "xor F T failed"); + Assert.assertEquals(Utils.xor(true, false), true, "xor T F failed"); + Assert.assertEquals(Utils.xor(true, true), false, "xor T T failed"); + } + @Test public void testDupStringMultiChar() { String duped = Utils.dupString('c',5); diff --git a/public/java/test/org/broadinstitute/sting/utils/activeregion/ActiveRegionUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/activeregion/ActiveRegionUnitTest.java index d2ea5d11b..7f0f93704 100644 --- a/public/java/test/org/broadinstitute/sting/utils/activeregion/ActiveRegionUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/activeregion/ActiveRegionUnitTest.java @@ -34,6 +34,7 @@ import net.sf.samtools.SAMFileHeader; import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; +import org.broadinstitute.sting.utils.GenomeLocSortedSet; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; import org.broadinstitute.sting.utils.sam.GATKSAMRecord; @@ -48,6 +49,7 @@ import java.util.*; public class ActiveRegionUnitTest extends BaseTest { + private final static boolean DEBUG = true; private GenomeLocParser genomeLocParser; private IndexedFastaSequenceFile seq; private String contig; @@ -88,7 +90,7 @@ public class ActiveRegionUnitTest extends BaseTest { return tests.toArray(new Object[][]{}); } - @Test(enabled = true, dataProvider = "ActionRegionCreationTest") + @Test(enabled = !DEBUG, dataProvider = "ActionRegionCreationTest") public void testCreatingActiveRegions(final GenomeLoc loc, final List supportingStates, final boolean isActive, final int extension) { final ActiveRegion region = new ActiveRegion(loc, supportingStates, isActive, genomeLocParser, extension); Assert.assertEquals(region.getLocation(), loc); @@ -141,7 +143,7 @@ public class ActiveRegionUnitTest extends BaseTest { return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "ActiveRegionReads") + @Test(enabled = !DEBUG, dataProvider = "ActiveRegionReads") public void testActiveRegionReads(final GenomeLoc loc, final GATKSAMRecord read) { final GenomeLoc expectedSpan = loc.union(genomeLocParser.createGenomeLoc(read)); @@ -187,16 +189,14 @@ public class ActiveRegionUnitTest extends BaseTest { Assert.assertEquals(region.getExtendedLoc(), loc); Assert.assertEquals(region.getReadSpanLoc(), loc); Assert.assertTrue(region.equalExceptReads(region2)); - - region.add(read); - region.hardClipToActiveRegion(); - Assert.assertEquals(region.size(), 1); - Assert.assertEquals(region.getExtendedLoc(), loc); - Assert.assertEquals(region.getReadSpanLoc(), loc); - Assert.assertTrue(region.getReads().get(0).getAlignmentStart() >= region.getExtendedLoc().getStart()); - Assert.assertTrue(region.getReads().get(0).getAlignmentEnd() <= region.getExtendedLoc().getStop()); } + // ----------------------------------------------------------------------------------------------- + // + // Make sure bad inputs are properly detected + // + // ----------------------------------------------------------------------------------------------- + @DataProvider(name = "BadReadsTest") public Object[][] makeBadReadsTest() { List tests = new ArrayList(); @@ -213,11 +213,100 @@ public class ActiveRegionUnitTest extends BaseTest { return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "BadReadsTest", expectedExceptions = IllegalArgumentException.class) + @Test(enabled = !DEBUG, dataProvider = "BadReadsTest", expectedExceptions = IllegalArgumentException.class) public void testBadReads(final GATKSAMRecord read1, final GATKSAMRecord read2) { final GenomeLoc loc = genomeLocParser.createGenomeLoc(read1); final ActiveRegion region = new ActiveRegion(loc, null, true, genomeLocParser, 0); region.add(read1); region.add(read2); } + + // ----------------------------------------------------------------------------------------------- + // + // Make sure we can properly cut up an active region based on engine intervals + // + // ----------------------------------------------------------------------------------------------- + + @DataProvider(name = "SplitActiveRegion") + public Object[][] makeSplitActiveRegion() { + List tests = new ArrayList(); + + final GenomeLoc whole_span = genomeLocParser.createGenomeLoc("20", 1, 500); + final GenomeLoc gl_before = genomeLocParser.createGenomeLoc("20", 1, 9); + final GenomeLoc gl_after = genomeLocParser.createGenomeLoc("20", 250, 500); + final GenomeLoc gl_diff_contig = genomeLocParser.createGenomeLoc("19", 40, 50); + + final int regionStart = 10; + final int regionStop = 100; + final GenomeLoc region = genomeLocParser.createGenomeLoc("20", regionStart, regionStop); + + for ( final GenomeLoc noEffect : Arrays.asList(whole_span) ) + tests.add(new Object[]{ + region, + Arrays.asList(noEffect), + Arrays.asList(region)}); + + for ( final GenomeLoc noOverlap : Arrays.asList(gl_before, gl_after, gl_diff_contig) ) + tests.add(new Object[]{ + region, + Arrays.asList(noOverlap), + Arrays.asList()}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 5, 50)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", regionStart, 50))}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 50, 200)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", 50, regionStop))}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 40, 50)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", 40, 50))}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 20, 30), genomeLocParser.createGenomeLoc("20", 40, 50)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", 20, 30), genomeLocParser.createGenomeLoc("20", 40, 50))}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 1, 30), genomeLocParser.createGenomeLoc("20", 40, 50)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", regionStart, 30), genomeLocParser.createGenomeLoc("20", 40, 50))}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 1, 30), genomeLocParser.createGenomeLoc("20", 70, 200)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", regionStart, 30), genomeLocParser.createGenomeLoc("20", 70, regionStop))}); + + tests.add(new Object[]{region, + Arrays.asList(genomeLocParser.createGenomeLoc("20", 1, 30), genomeLocParser.createGenomeLoc("20", 40, 50), genomeLocParser.createGenomeLoc("20", 70, 200)), + Arrays.asList(genomeLocParser.createGenomeLoc("20", regionStart, 30), genomeLocParser.createGenomeLoc("20", 40, 50), genomeLocParser.createGenomeLoc("20", 70, regionStop))}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "SplitActiveRegion") + public void testSplitActiveRegion(final GenomeLoc regionLoc, final List intervalLocs, final List expectedRegionLocs) { + for ( final boolean addSubstates : Arrays.asList(true, false) ) { + final List states; + if ( addSubstates ) { + states = new LinkedList(); + for ( int i = 0; i < regionLoc.size(); i++ ) + states.add(new ActivityProfileState(genomeLocParser.createGenomeLoc(regionLoc.getContig(), regionLoc.getStart() + i), 1.0)); + } else { + states = null; + } + + final ActiveRegion region = new ActiveRegion(regionLoc, states, true, genomeLocParser, 0); + final GenomeLocSortedSet intervals = new GenomeLocSortedSet(genomeLocParser, intervalLocs); + final List regions = region.splitAndTrimToIntervals(intervals); + + Assert.assertEquals(regions.size(), expectedRegionLocs.size(), "Wrong number of split locations"); + for ( int i = 0; i < expectedRegionLocs.size(); i++ ) { + final GenomeLoc expected = expectedRegionLocs.get(i); + final ActiveRegion actual = regions.get(i); + Assert.assertEquals(actual.getLocation(), expected, "Bad region after split"); + Assert.assertEquals(actual.isActive(), region.isActive()); + Assert.assertEquals(actual.getExtension(), region.getExtension()); + } + } + } } \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/sting/utils/activeregion/ActivityProfileUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/activeregion/ActivityProfileUnitTest.java index b9fdb3afe..9be250b8e 100644 --- a/public/java/test/org/broadinstitute/sting/utils/activeregion/ActivityProfileUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/activeregion/ActivityProfileUnitTest.java @@ -89,7 +89,7 @@ public class ActivityProfileUnitTest extends BaseTest { case Base: return new ActivityProfile(genomeLocParser); case BandPass: // zero size => equivalent to ActivityProfile - return new BandPassActivityProfile(genomeLocParser, 0, 0.01, false); + return new BandPassActivityProfile(genomeLocParser, null, 0, 0.01, false); default: throw new IllegalStateException(type.toString()); } } diff --git a/public/java/test/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfileUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfileUnitTest.java index cb2a6bfb2..d5231c30b 100644 --- a/public/java/test/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfileUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/activeregion/BandPassActivityProfileUnitTest.java @@ -35,10 +35,12 @@ import org.broadinstitute.sting.BaseTest; import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.MathUtils; +import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile; +import org.broadinstitute.sting.utils.variant.GATKVCFUtils; import org.broadinstitute.variant.variantcontext.VariantContext; -import org.broadinstitute.variant.variantcontext.VariantContextTestProvider; import org.broadinstitute.variant.vcf.VCFCodec; +import org.broadinstitute.variant.vcf.VCFHeader; import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.DataProvider; @@ -85,7 +87,7 @@ public class BandPassActivityProfileUnitTest extends BaseTest { @Test(enabled = ! DEBUG, dataProvider = "BandPassBasicTest") public void testBandPass(final int start, final boolean precedingIsActive, final int nPrecedingSites, final int bandPassSize, final double sigma) { - final BandPassActivityProfile profile = new BandPassActivityProfile(genomeLocParser, bandPassSize, sigma, false); + final BandPassActivityProfile profile = new BandPassActivityProfile(genomeLocParser, null, bandPassSize, sigma, false); final int expectedBandSize = bandPassSize * 2 + 1; Assert.assertEquals(profile.getFilteredSize(), bandPassSize, "Wrong filter size"); @@ -140,7 +142,7 @@ public class BandPassActivityProfileUnitTest extends BaseTest { @Test( enabled = ! DEBUG, dataProvider = "BandPassComposition") public void testBandPassComposition(final int bandPassSize, final int integrationLength) { final int start = 1; - final BandPassActivityProfile profile = new BandPassActivityProfile(genomeLocParser, bandPassSize, BandPassActivityProfile.DEFAULT_SIGMA); + final BandPassActivityProfile profile = new BandPassActivityProfile(genomeLocParser, null, bandPassSize, BandPassActivityProfile.DEFAULT_SIGMA); final double[] rawActiveProbs = new double[integrationLength + bandPassSize * 2]; // add a buffer so that we can get all of the band pass values @@ -213,7 +215,7 @@ public class BandPassActivityProfileUnitTest extends BaseTest { @Test( enabled = ! DEBUG, dataProvider = "KernelCreation") public void testKernelCreation(final double sigma, final int maxSize, final double[] expectedKernel) { - final BandPassActivityProfile profile = new BandPassActivityProfile(genomeLocParser, maxSize, sigma, true); + final BandPassActivityProfile profile = new BandPassActivityProfile(genomeLocParser, null, maxSize, sigma, true); final double[] kernel = profile.getKernel(); Assert.assertEquals(kernel.length, expectedKernel.length); @@ -250,13 +252,13 @@ public class BandPassActivityProfileUnitTest extends BaseTest { final File file = new File(path); final VCFCodec codec = new VCFCodec(); - final VariantContextTestProvider.VariantContextContainer reader = VariantContextTestProvider.readAllVCs(file, codec); + final Pair reader = GATKVCFUtils.readAllVCs(file, codec); final List incRegions = new ArrayList(); - final BandPassActivityProfile incProfile = new BandPassActivityProfile(genomeLocParser); - final BandPassActivityProfile fullProfile = new BandPassActivityProfile(genomeLocParser); + final BandPassActivityProfile incProfile = new BandPassActivityProfile(genomeLocParser, null); + final BandPassActivityProfile fullProfile = new BandPassActivityProfile(genomeLocParser, null); int pos = start; - for ( final VariantContext vc : reader.getVCs() ) { + for ( final VariantContext vc : reader.getSecond() ) { if ( vc == null ) continue; while ( pos < vc.getStart() ) { final GenomeLoc loc = genomeLocParser.createGenomeLoc(contig, pos); diff --git a/public/java/test/org/broadinstitute/sting/utils/collections/DefaultHashMapUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/collections/DefaultHashMapUnitTest.java new file mode 100755 index 000000000..176b462fc --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/collections/DefaultHashMapUnitTest.java @@ -0,0 +1,159 @@ +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + +package org.broadinstitute.sting.utils.collections; + + +// the imports for unit testing. + +import org.broadinstitute.sting.BaseTest; +import org.testng.Assert; +import org.testng.annotations.BeforeMethod; +import org.testng.annotations.Test; + + +/** + * Basic unit test for DefaultHashMap + */ +public class DefaultHashMapUnitTest extends BaseTest { + DefaultHashMap empty, hasOne, hasTen; + Double initialDefault = 10.0; + + @BeforeMethod + public void before() { + empty = new DefaultHashMap(initialDefault); + + hasOne = new DefaultHashMap(initialDefault); + hasOne.put("1", .1); + + hasTen = new DefaultHashMap(initialDefault); + for (Integer i = 1; i <= 10; i++) { + hasTen.put(i.toString(), i.doubleValue() / 10); + } + } + + @Test + public void testBasicSizes() { + logger.warn("Executing testBasicSizes"); + + Assert.assertEquals(0, empty.size()); + Assert.assertEquals(1, hasOne.size()); + Assert.assertEquals(10, hasTen.size()); + } + + @Test + public void testTenElements() { + logger.warn("Executing testTenElements"); + + for (Integer i = 1; i <= 10; i++) { + Assert.assertEquals(i.doubleValue() / 10, hasTen.get(i.toString())); + } + Assert.assertEquals(initialDefault, hasTen.get("0")); + } + + @Test + public void testClear() { + logger.warn("Executing testClear"); + + empty.clear(); + hasOne.clear(); + hasTen.clear(); + + Assert.assertEquals(0, empty.size()); + Assert.assertEquals(0, hasOne.size()); + Assert.assertEquals(0, hasTen.size()); + } + + + @Test + public void testSettingTenElements() { + logger.warn("Executing testSettingTenElements"); + + Assert.assertEquals(10, hasTen.size()); + for (Integer i = 1; i <= 10; i++) { + hasTen.put(i.toString(), i.doubleValue()); + } + + Assert.assertEquals(10, hasTen.size()); + for (Integer i = 1; i <= 10; i++) { + Assert.assertEquals(i.doubleValue(), hasTen.get(i.toString())); + } + } + + @Test + public void testSettingDefault() { + logger.warn("Executing testSettingDefault"); + + Assert.assertEquals(initialDefault, empty.get("0")); + Assert.assertEquals(initialDefault, hasOne.get("0")); + Assert.assertEquals(initialDefault, hasTen.get("0")); + + empty.setDefaultValue(2 * initialDefault); + hasOne.setDefaultValue(2 * initialDefault); + hasTen.setDefaultValue(2 * initialDefault); + + Assert.assertEquals(2 * initialDefault, empty.get("0")); + Assert.assertEquals(2 * initialDefault, hasOne.get("0")); + Assert.assertEquals(2 * initialDefault, hasTen.get("0")); + + } + + @Test + public void testAdd() { + logger.warn("Executing testAdd"); + + Assert.assertEquals(0, empty.size()); + + Double x = 1.0; + empty.put(x.toString(), x / 10); + Assert.assertEquals(1, empty.size()); + Assert.assertEquals(.1, empty.get(x.toString())); + + x = 2.0; + empty.put(x.toString(), x / 10); + Assert.assertEquals(2, empty.size()); + Assert.assertEquals(.2, empty.get(x.toString())); + + } + + @Test + public void testUnset() { + logger.warn("Executing testUnset1"); + + Assert.assertEquals(10, hasTen.size()); + Assert.assertEquals(.9, hasTen.get("9")); + + hasTen.remove("9"); + + Assert.assertEquals(9, hasTen.size()); + Assert.assertEquals(initialDefault, hasTen.get("9")); + + hasTen.remove("1"); + + Assert.assertEquals(8, hasTen.size()); + Assert.assertEquals(initialDefault, hasTen.get("1")); + + } +} diff --git a/public/java/test/org/broadinstitute/sting/utils/haplotypeBAMWriter/HaplotypeBAMWriterUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/haplotypeBAMWriter/HaplotypeBAMWriterUnitTest.java new file mode 100644 index 000000000..43969c7a0 --- /dev/null +++ b/public/java/test/org/broadinstitute/sting/utils/haplotypeBAMWriter/HaplotypeBAMWriterUnitTest.java @@ -0,0 +1,287 @@ +/* +* Copyright (c) 2012 The Broad Institute +* +* Permission is hereby granted, free of charge, to any person +* obtaining a copy of this software and associated documentation +* files (the "Software"), to deal in the Software without +* restriction, including without limitation the rights to use, +* copy, modify, merge, publish, distribute, sublicense, and/or sell +* copies of the Software, and to permit persons to whom the +* Software is furnished to do so, subject to the following +* conditions: +* +* The above copyright notice and this permission notice shall be +* included in all copies or substantial portions of the Software. +* +* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, +* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES +* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND +* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT +* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, +* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING +* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR +* THE USE OR OTHER DEALINGS IN THE SOFTWARE. +*/ + +package org.broadinstitute.sting.utils.haplotypeBAMWriter; + +import net.sf.samtools.*; +import org.broadinstitute.sting.BaseTest; +import org.broadinstitute.sting.utils.Haplotype; +import org.broadinstitute.sting.utils.SWPairwiseAlignment; +import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.sam.AlignmentUtils; +import org.broadinstitute.sting.utils.sam.ArtificialSAMUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.testng.annotations.Test; + +import java.util.ArrayList; +import java.util.Arrays; +import java.util.Collections; +import java.util.List; + +public class HaplotypeBAMWriterUnitTest extends BaseTest { + private final static boolean DEBUG = false; + final SAMFileHeader header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000); + + private GATKSAMRecord makeRead(final String baseString) { + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, 10); + final byte[] bases = baseString.getBytes(); + read.setReadBases(bases.clone()); + read.setBaseQualities(Utils.dupBytes((byte)30, read.getReadLength())); + return read; + } + + private Haplotype makeHaplotype(final String bases, final String cigar) { + final Haplotype hap = new Haplotype(bases.getBytes()); + hap.setCigar(TextCigarCodec.getSingleton().decode(cigar)); + return hap; + } + + private static class MockBAMWriter implements SAMFileWriter { + @Override + public void addAlignment(SAMRecord alignment) { + //To change body of implemented methods use File | Settings | File Templates. + } + + @Override + public SAMFileHeader getFileHeader() { + return null; //To change body of implemented methods use File | Settings | File Templates. + } + + @Override + public void close() { + //To change body of implemented methods use File | Settings | File Templates. + } + } + + @Test + public void testCreate() throws Exception { + final SAMFileWriter writer = new MockBAMWriter(); + Assert.assertTrue(HaplotypeBAMWriter.create(HaplotypeBAMWriter.Type.CALLED_HAPLOTYPES, writer) instanceof CalledHaplotypeBAMWriter); + Assert.assertTrue(HaplotypeBAMWriter.create(HaplotypeBAMWriter.Type.ALL_POSSIBLE_HAPLOTYPES, writer) instanceof AllHaplotypeBAMWriter); + } + + + ////////////////////////////////////////// + // Test HaplotypeBAMWriter.createReadAlignedToRef() // + ////////////////////////////////////////// + + @DataProvider(name = "ReadAlignedToRefData") + public Object[][] makeReadAlignedToRefData() { + List tests = new ArrayList(); + + final String hapBases = "ACTGAAGGTTCC"; + final Haplotype allM = makeHaplotype(hapBases, hapBases.length() + "M"); + + // make sure we get back a cigar of the right length + for ( int i = -1; i < hapBases.length(); i++ ) { + final GATKSAMRecord read = makeRead(hapBases); + if ( i != -1 ) read.getReadBases()[i] = (byte)'A'; + tests.add(new Object[]{read, allM, 10, 10, allM.getCigar().toString()}); + } + + // make sure insertions at the front are correctly handled + for ( int padFront = 1; padFront < 10; padFront++ ) { + final GATKSAMRecord read = makeRead(Utils.dupString("N", padFront) + hapBases); + tests.add(new Object[]{read, allM, 10, 10, padFront + "I" + allM.getCigar().toString()}); + } + + // make sure insertions at the back are correctly handled + for ( int padBack = 1; padBack < 10; padBack++ ) { + final GATKSAMRecord read = makeRead(hapBases + Utils.dupString("N", padBack)); + tests.add(new Object[]{read, allM, 10, 10, allM.getCigar().toString() + padBack + "I"}); + } + + // make sure refStart and hapStart are respected + for ( int refStart = 1; refStart < 10; refStart++ ) { + for ( int hapStart = refStart; hapStart < 10 + refStart; hapStart++ ) { + final Haplotype hap = new Haplotype(allM.getBases()); + hap.setCigar(allM.getCigar()); + hap.setAlignmentStartHapwrtRef(hapStart); + + final GATKSAMRecord read = makeRead(new String(hap.getBases())); + tests.add(new Object[]{read, hap, refStart, refStart + hapStart, allM.getCigar().toString()}); + } + } + + // test that reads without a good alignment to hap get excluded + { + final GATKSAMRecord read = makeRead("NNNNN"); + tests.add(new Object[]{read, allM, 10, -1, null}); + } + + // example case of bad alignment because SW doesn't necessarily left-align indels + { + final String hap = "ACTGTGGGTTCCTCTTATTTTATTTCTACATCAATGTTCATATTTAACTTATTATTTTATCTTATTTTTAAATTTCTTTTATGTTGAGCCTTGATGAAAGCCATAGGTTCTCTCATATAATTGTATGTGTATGTATGTATATGTACATAATATATACATATATGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTGTATTACATAATATATACATATATGTATATATTATGTATATGTACATAATATATACATATATG"; + final String hapCigar = "399M"; + final String readBases = "ATGTACATAATATATACATATATGTATATGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTACATAATATATACGTATATGTATGTGTATGTGTATTACATAATATATACATATATGTATATATTATGTATATGTACATAATAT"; + final GATKSAMRecord read = makeRead(readBases); + final int refStart = 10130100; + final int hapStart = 500; + final String badCigar = "31M6D211M"; + final String goodCigar = "28M6D214M"; + final Haplotype badHap = new Haplotype(hap.getBytes()); + badHap.setCigar(TextCigarCodec.getSingleton().decode(hapCigar)); + badHap.setAlignmentStartHapwrtRef(hapStart); + + final int expectedPos = 10130740; + tests.add(new Object[]{read, badHap, refStart, expectedPos, goodCigar}); + } + + return tests.toArray(new Object[][]{}); + } + + + + @Test(dataProvider = "ReadAlignedToRefData", enabled = true) + public void testReadAlignedToRef(final GATKSAMRecord read, final Haplotype haplotype, final int refStart, final int expectedReadStart, final String expectedReadCigar) throws Exception { + final HaplotypeBAMWriter writer = new CalledHaplotypeBAMWriter(new MockBAMWriter()); + final GATKSAMRecord originalReadCopy = (GATKSAMRecord)read.clone(); + + if ( expectedReadCigar == null ) { + Assert.assertNull(writer.createReadAlignedToRef(read, haplotype, refStart)); + } else { + final Cigar expectedCigar = TextCigarCodec.getSingleton().decode(expectedReadCigar); + final GATKSAMRecord alignedRead = writer.createReadAlignedToRef(read, haplotype, refStart); + + Assert.assertEquals(alignedRead.getReadName(), originalReadCopy.getReadName()); + Assert.assertEquals(alignedRead.getAlignmentStart(), expectedReadStart); + Assert.assertEquals(alignedRead.getReadBases(), originalReadCopy.getReadBases()); + Assert.assertEquals(alignedRead.getBaseQualities(), originalReadCopy.getBaseQualities()); + Assert.assertEquals(alignedRead.getAlignmentStart(), expectedReadStart); + Assert.assertEquals(alignedRead.getCigar(), expectedCigar); + Assert.assertNotNull(alignedRead.getAttribute("HC")); + } + + Assert.assertEquals(read, originalReadCopy, "createReadAlignedToRef seems be modifying the original read!"); + } + + private static class Mutation implements Comparable { + int pos, len; + CigarOperator operator; + + private Mutation(int pos, int len, CigarOperator operator) { + this.pos = pos; + this.len = len; + this.operator = operator; + } + public int getNMismatches() { return len; } + + @Override + public int compareTo(Mutation o) { + return Integer.valueOf(pos).compareTo(o.pos); + } + + private String apply(final String seq) { + switch ( operator ) { + case M: + final byte[] bases = seq.getBytes(); + if ( pos < seq.length() ) + bases[pos] = (byte)(bases[pos] == 'A' ? 'C' : 'A'); + return new String(bases); + case I: { + final String prefix = seq.substring(0, pos); + final String postfix = seq.substring(pos, seq.length()); + return prefix + "GTCAGTTA".substring(0, len) + postfix; + } case D: { + final String prefix = seq.substring(0, pos); + final String postfix = seq.substring(pos + len, seq.length()); + return prefix + postfix; + }default: + throw new IllegalStateException("Unexpected operator " + operator); + } + } + } + + private static class MutatedSequence { + int numMismatches; + String seq; + + private MutatedSequence(int numMismatches, String seq) { + this.numMismatches = numMismatches; + this.seq = seq; + } + } + + private MutatedSequence mutateSequence(final String hapIn, final List mutations) { + Collections.sort(mutations); + int mismatches = 0; + String hap = hapIn; + for ( final Mutation mut : mutations ) { + hap = mut.apply(hap); + mismatches += mut.getNMismatches(); + } + return new MutatedSequence(mismatches, hap); + } + + @DataProvider(name = "ComplexReadAlignedToRef") + public Object[][] makeComplexReadAlignedToRef() { + List tests = new ArrayList(); + + final List allMutations = Arrays.asList( + new Mutation(1, 1, CigarOperator.M), + new Mutation(2, 1, CigarOperator.M), + new Mutation(3, 1, CigarOperator.I), + new Mutation(7, 1, CigarOperator.D) + ); + + int i = 0; + final String referenceBases = "ACTGACTGACTG"; + final String paddedReference = "NNNN" + referenceBases + "NNNN"; + for ( final List mutations : Utils.makePermutations(allMutations, 3, false) ) { + final MutatedSequence hap = mutateSequence(referenceBases, mutations); + final Haplotype haplotype = new Haplotype(hap.seq.getBytes()); + final SWPairwiseAlignment align = new SWPairwiseAlignment(paddedReference.getBytes(), hap.seq.getBytes()); + haplotype.setAlignmentStartHapwrtRef(align.getAlignmentStart2wrt1()); + haplotype.setCigar(align.getCigar()); + + for ( final List readMutations : Utils.makePermutations(allMutations, 3, false) ) { + final MutatedSequence readBases = mutateSequence(hap.seq, readMutations); + final GATKSAMRecord read = makeRead(readBases.seq); + tests.add(new Object[]{i++, read, paddedReference, haplotype, hap.numMismatches + readBases.numMismatches}); + } + } + + // for convenient testing of a single failing case + //tests.add(new Object[]{makeRead("ACCGGGACTGACTG"), reference, makeHaplotype("AAAGGACTGACTG", "1M1I11M"), 2}); + + return tests.toArray(new Object[][]{}); + } + + + @Test(dataProvider = "ComplexReadAlignedToRef", enabled = !DEBUG) + public void testReadAlignedToRefComplexAlignment(final int testIndex, final GATKSAMRecord read, final String reference, final Haplotype haplotype, final int expectedMaxMismatches) throws Exception { + final HaplotypeBAMWriter writer = new CalledHaplotypeBAMWriter(new MockBAMWriter()); + final GATKSAMRecord alignedRead = writer.createReadAlignedToRef(read, haplotype, 1); + if ( alignedRead != null ) { + final int mismatches = AlignmentUtils.getMismatchCount(alignedRead, reference.getBytes(), alignedRead.getAlignmentStart() - 1).numMismatches; + Assert.assertTrue(mismatches <= expectedMaxMismatches, + "Alignment of read to ref looks broken. Expected at most " + expectedMaxMismatches + " but saw " + mismatches + + " for readBases " + new String(read.getReadBases()) + " with cigar " + read.getCigar() + " reference " + reference + " haplotype " + + haplotype + " with cigar " + haplotype.getCigar() + " aligned read cigar " + alignedRead.getCigarString() + " @ " + alignedRead.getAlignmentStart()); + } + } +} diff --git a/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorBenchmark.java b/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorBenchmark.java index e52cd46cc..9c3472752 100644 --- a/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorBenchmark.java +++ b/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorBenchmark.java @@ -28,7 +28,6 @@ package org.broadinstitute.sting.utils.locusiterator; import com.google.caliper.Param; import com.google.caliper.SimpleBenchmark; import net.sf.samtools.SAMFileHeader; -import net.sf.samtools.SAMRecord; import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.QualityUtils; @@ -63,7 +62,7 @@ public class LocusIteratorBenchmark extends SimpleBenchmark { read.setReadBases(Utils.dupBytes((byte) 'A', readLength)); final byte[] quals = new byte[readLength]; for ( int i = 0; i < readLength; i++ ) - quals[i] = (byte)(i % QualityUtils.MAX_QUAL_SCORE); + quals[i] = (byte)(i % QualityUtils.MAX_SAM_QUAL_SCORE); read.setBaseQualities(quals); read.setCigarString(cigar); reads.add(read); diff --git a/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateBaseTest.java b/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateBaseTest.java index 1a51440ad..ee65109ca 100644 --- a/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateBaseTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateBaseTest.java @@ -141,7 +141,7 @@ public class LocusIteratorByStateBaseTest extends BaseTest { read.setReadBases(Utils.dupBytes((byte) 'A', readLength)); final byte[] quals = new byte[readLength]; for ( int i = 0; i < readLength; i++ ) - quals[i] = (byte)(i % QualityUtils.MAX_QUAL_SCORE); + quals[i] = (byte)(i % QualityUtils.MAX_SAM_QUAL_SCORE); read.setBaseQualities(quals); read.setCigarString(cigarString); return read; diff --git a/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateUnitTest.java index eb7e61ed8..fd87c1c12 100644 --- a/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/locusiterator/LocusIteratorByStateUnitTest.java @@ -315,7 +315,7 @@ public class LocusIteratorByStateUnitTest extends LocusIteratorByStateBaseTest { read.setReadBases(("TT" + eventBases + "A").getBytes()); final byte[] quals = new byte[readLength]; for ( int i = 0; i < readLength; i++ ) - quals[i] = (byte)(i % QualityUtils.MAX_QUAL_SCORE); + quals[i] = (byte)(i % QualityUtils.MAX_SAM_QUAL_SCORE); read.setBaseQualities(quals); read.setCigarString(cigar); diff --git a/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerIntegrationTest.java b/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerIntegrationTest.java deleted file mode 100644 index 23ede8f75..000000000 --- a/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerIntegrationTest.java +++ /dev/null @@ -1,78 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.sting.utils.nanoScheduler; - -import org.broadinstitute.sting.WalkerTest; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.util.ArrayList; -import java.util.Arrays; -import java.util.List; - -// ********************************************************************************** // -// Note that this class also serves as an integration test for the VariantAnnotator! // -// ********************************************************************************** // - -public class NanoSchedulerIntegrationTest extends WalkerTest { - @DataProvider(name = "NanoSchedulerUGTest") - public Object[][] createNanoSchedulerUGTest() { - List tests = new ArrayList(); - - for ( final int nt : Arrays.asList(1, 2) ) - for ( final int nct : Arrays.asList(1, 2) ) { -// tests.add(new Object[]{ "SNP", "a1c7546f32a8919a3f3a70a04b2e8322", nt, nct }); -//// tests.add(new Object[]{ "INDEL", "0a6d2be79f4f8a4b0eb788cc4751b31b", nt, nct }); - tests.add(new Object[]{ "BOTH", "85fc5d6dfeb60ed89763470f4b4c981e", nt, nct }); - } - - return tests.toArray(new Object[][]{}); - } - - @Test(enabled = true, dataProvider = "NanoSchedulerUGTest") - private void testNanoSchedulerUGTest(final String glm, final String md5, final int nt, final int nct ) { - WalkerTestSpec spec = new WalkerTestSpec( - buildCommandLine( - "-T UnifiedGenotyper -R " + b37KGReference, - "--no_cmdline_in_header -G", - //"--dbsnp " + b37dbSNP132, - "-I " + privateTestDir + "NA12878.HiSeq.b37.chr20.10_11mb.bam", - "-L 20:10,000,000-10,100,000", - "-glm " + glm, - "--contamination_fraction_to_filter 0.0", - "-nt " + nt, - "-nct " + nct, - "-o %s" - ), - 1, - Arrays.asList(md5) - ); - executeTest(String.format("testUG-glm:%s-nt%d-nct%d", glm, nt, nct), spec); - } - - - -} diff --git a/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerUnitTest.java index 1d111e759..5587d32f8 100644 --- a/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/nanoScheduler/NanoSchedulerUnitTest.java @@ -51,6 +51,7 @@ public class NanoSchedulerUnitTest extends BaseTest { private final static boolean DEBUG = false; private final static boolean debug = false; public static final int NANO_SCHEDULE_MAX_RUNTIME = 30000; + public static final int EXCEPTION_THROWING_TEST_TIMEOUT = 10000; private static class Map2x implements NSMapFunction { @Override public Integer apply(Integer input) { return input * 2; } @@ -268,22 +269,22 @@ public class NanoSchedulerUnitTest extends BaseTest { return tests.toArray(new Object[][]{}); } - @Test(enabled = true, expectedExceptions = NullPointerException.class, timeOut = 10000) + @Test(enabled = true, expectedExceptions = NullPointerException.class, timeOut = EXCEPTION_THROWING_TEST_TIMEOUT) public void testInputErrorIsThrown_NPE() throws InterruptedException { executeTestErrorThrowingInput(10, new NullPointerException(), exampleTest, false); } - @Test(enabled = true, expectedExceptions = ReviewedStingException.class, timeOut = 1000) + @Test(enabled = true, expectedExceptions = ReviewedStingException.class, timeOut = EXCEPTION_THROWING_TEST_TIMEOUT) public void testInputErrorIsThrown_RSE() throws InterruptedException { executeTestErrorThrowingInput(10, new ReviewedStingException("test"), exampleTest, false); } - @Test(enabled = true, expectedExceptions = NullPointerException.class, dataProvider = "NanoSchedulerInputExceptionTest", timeOut = 1000, invocationCount = 1) + @Test(enabled = true, expectedExceptions = NullPointerException.class, dataProvider = "NanoSchedulerInputExceptionTest", timeOut = EXCEPTION_THROWING_TEST_TIMEOUT, invocationCount = 1) public void testInputRuntimeExceptionDoesntDeadlock(final int nElementsBeforeError, final NanoSchedulerBasicTest test, final boolean addDelays ) throws InterruptedException { executeTestErrorThrowingInput(nElementsBeforeError, new NullPointerException(), test, addDelays); } - @Test(enabled = true, expectedExceptions = ReviewedStingException.class, dataProvider = "NanoSchedulerInputExceptionTest", timeOut = 1000, invocationCount = 1) + @Test(enabled = true, expectedExceptions = ReviewedStingException.class, dataProvider = "NanoSchedulerInputExceptionTest", timeOut = EXCEPTION_THROWING_TEST_TIMEOUT, invocationCount = 1) public void testInputErrorDoesntDeadlock(final int nElementsBeforeError, final NanoSchedulerBasicTest test, final boolean addDelays ) throws InterruptedException { executeTestErrorThrowingInput(nElementsBeforeError, new Error(), test, addDelays); } diff --git a/public/java/test/org/broadinstitute/sting/utils/progressmeter/ProgressMeterDaemonUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/progressmeter/ProgressMeterDaemonUnitTest.java index c33c1976b..d127a2937 100644 --- a/public/java/test/org/broadinstitute/sting/utils/progressmeter/ProgressMeterDaemonUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/progressmeter/ProgressMeterDaemonUnitTest.java @@ -63,6 +63,7 @@ public class ProgressMeterDaemonUnitTest extends BaseTest { private TestingProgressMeter(final long poll) { super(null, "test", new GenomeLocSortedSet(genomeLocParser), poll); + super.start(); } @Override diff --git a/public/java/test/org/broadinstitute/sting/utils/sam/AlignmentUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/sam/AlignmentUtilsUnitTest.java index d9f514593..ae01c6c63 100644 --- a/public/java/test/org/broadinstitute/sting/utils/sam/AlignmentUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/sam/AlignmentUtilsUnitTest.java @@ -28,6 +28,7 @@ package org.broadinstitute.sting.utils.sam; import net.sf.samtools.*; import org.apache.commons.lang.ArrayUtils; import org.broadinstitute.sting.utils.Utils; +import org.broadinstitute.sting.utils.pileup.PileupElement; import org.testng.Assert; import org.testng.annotations.BeforeClass; import org.testng.annotations.DataProvider; @@ -36,6 +37,7 @@ import org.testng.annotations.Test; import java.util.*; public class AlignmentUtilsUnitTest { + private final static boolean DEBUG = false; private SAMFileHeader header; /** Basic aligned and mapped read. */ @@ -84,7 +86,7 @@ public class AlignmentUtilsUnitTest { new Object[] {readUnknownStart, false} }; } - @Test(dataProvider = "genomeLocUnmappedReadTests") + @Test(enabled = !DEBUG, dataProvider = "genomeLocUnmappedReadTests") public void testIsReadGenomeLocUnmapped(SAMRecord read, boolean expected) { Assert.assertEquals(AlignmentUtils.isReadGenomeLocUnmapped(read), expected); } @@ -102,7 +104,7 @@ public class AlignmentUtilsUnitTest { new Object[] {readUnknownStart, true} }; } - @Test(dataProvider = "unmappedReadTests") + @Test(enabled = !DEBUG, dataProvider = "unmappedReadTests") public void testIsReadUnmapped(SAMRecord read, boolean expected) { Assert.assertEquals(AlignmentUtils.isReadUnmapped(read), expected); } @@ -159,7 +161,7 @@ public class AlignmentUtilsUnitTest { return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "NumAlignedBasesCountingSoftClips") + @Test(enabled = !DEBUG, dataProvider = "NumAlignedBasesCountingSoftClips") public void testNumAlignedBasesCountingSoftClips(final Cigar cigar, final int expected) { final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, cigar == null ? 10 : cigar.getReadLength()); read.setCigar(cigar); @@ -179,7 +181,7 @@ public class AlignmentUtilsUnitTest { return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "CigarHasZeroElement") + @Test(enabled = !DEBUG, dataProvider = "CigarHasZeroElement") public void testCigarHasZeroSize(final Cigar cigar, final boolean hasZero) { Assert.assertEquals(AlignmentUtils.cigarHasZeroSizeElement(cigar), hasZero, "Cigar " + cigar.toString() + " failed cigarHasZeroSizeElement"); } @@ -199,7 +201,7 @@ public class AlignmentUtilsUnitTest { return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "NumHardClipped") + @Test(enabled = !DEBUG, dataProvider = "NumHardClipped") public void testNumHardClipped(final Cigar cigar, final int expected) { final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, cigar == null ? 10 : cigar.getReadLength()); read.setCigar(cigar); @@ -226,49 +228,54 @@ public class AlignmentUtilsUnitTest { return tests.toArray(new Object[][]{}); } - @Test(dataProvider = "NumAlignedBlocks") + @Test(enabled = !DEBUG, dataProvider = "NumAlignedBlocks") public void testNumAlignedBlocks(final Cigar cigar, final int expected) { final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, cigar == null ? 10 : cigar.getReadLength()); read.setCigar(cigar); Assert.assertEquals(AlignmentUtils.getNumAlignmentBlocks(read), expected, "Cigar " + cigar + " failed NumAlignedBlocks"); } - @Test - public void testConsolidateCigar() { - { - //1M1M1M1D2M1M --> 3M1D3M - List list = new ArrayList(); - list.add( new CigarElement(1, CigarOperator.M)); - list.add( new CigarElement(1, CigarOperator.M)); - list.add( new CigarElement(1, CigarOperator.M)); - list.add( new CigarElement(1, CigarOperator.D)); - list.add( new CigarElement(2, CigarOperator.M)); - list.add( new CigarElement(1, CigarOperator.M)); - Cigar unconsolidatedCigar = new Cigar(list); + @DataProvider(name = "ConsolidateCigarData") + public Object[][] makeConsolidateCigarData() { + List tests = new ArrayList(); - list.clear(); - list.add( new CigarElement(3, CigarOperator.M)); - list.add( new CigarElement(1, CigarOperator.D)); - list.add( new CigarElement(3, CigarOperator.M)); - Cigar consolidatedCigar = new Cigar(list); + // this functionality can be adapted to provide input data for whatever you might want in your data + tests.add(new Object[]{"1M1M", "2M"}); + tests.add(new Object[]{"2M", "2M"}); + tests.add(new Object[]{"2M0M", "2M"}); + tests.add(new Object[]{"0M2M", "2M"}); + tests.add(new Object[]{"0M2M0M0I0M1M", "3M"}); + tests.add(new Object[]{"2M0M1M", "3M"}); + tests.add(new Object[]{"1M1M1M1D2M1M", "3M1D3M"}); + tests.add(new Object[]{"6M6M6M", "18M"}); - Assert.assertEquals(consolidatedCigar.toString(), AlignmentUtils.consolidateCigar(unconsolidatedCigar).toString()); + final List elements = new LinkedList(); + int i = 1; + for ( final CigarOperator op : CigarOperator.values() ) { + elements.add(new CigarElement(i++, op)); + } + for ( final List ops : Utils.makePermutations(elements, 3, false) ) { + final String expected = new Cigar(ops).toString(); + final List cutElements = new LinkedList(); + for ( final CigarElement elt : ops ) { + for ( int j = 0; j < elt.getLength(); j++ ) { + cutElements.add(new CigarElement(1, elt.getOperator())); + } + } + + final String actual = new Cigar(cutElements).toString(); + tests.add(new Object[]{actual, expected}); } - { - //6M6M6M --> 18M - List list = new ArrayList(); - list.add( new CigarElement(6, CigarOperator.M)); - list.add( new CigarElement(6, CigarOperator.M)); - list.add( new CigarElement(6, CigarOperator.M)); - Cigar unconsolidatedCigar = new Cigar(list); + return tests.toArray(new Object[][]{}); + } - list.clear(); - list.add( new CigarElement(18, CigarOperator.M)); - Cigar consolidatedCigar = new Cigar(list); - - Assert.assertEquals(consolidatedCigar.toString(), AlignmentUtils.consolidateCigar(unconsolidatedCigar).toString()); - } + @Test(enabled = !DEBUG, dataProvider = "ConsolidateCigarData") + public void testConsolidateCigarWithData(final String testCigarString, final String expectedCigarString) { + final Cigar testCigar = TextCigarCodec.getSingleton().decode(testCigarString); + final Cigar expectedCigar = TextCigarCodec.getSingleton().decode(expectedCigarString); + final Cigar actualCigar = AlignmentUtils.consolidateCigar(testCigar); + Assert.assertEquals(actualCigar, expectedCigar); } @DataProvider(name = "SoftClipsDataProvider") @@ -303,7 +310,7 @@ public class AlignmentUtilsUnitTest { return array; } - @Test(dataProvider = "SoftClipsDataProvider") + @Test(enabled = !DEBUG, dataProvider = "SoftClipsDataProvider") public void testSoftClipsData(final byte[] qualsOfSoftClipsOnLeft, final int middleSize, final String middleOp, final byte[] qualOfSoftClipsOnRight, final int qualThreshold, final int numExpected) { final int readLength = (middleOp.equals("D") ? 0 : middleSize) + qualOfSoftClipsOnRight.length + qualsOfSoftClipsOnLeft.length; final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, readLength); @@ -325,4 +332,592 @@ public class AlignmentUtilsUnitTest { final int actual = AlignmentUtils.calcNumHighQualitySoftClips(read, (byte) qualThreshold); Assert.assertEquals(actual, numExpected, "Wrong number of soft clips detected for read " + read.getSAMString()); } + + //////////////////////////////////////////// + // Test AlignmentUtils.getMismatchCount() // + //////////////////////////////////////////// + + @DataProvider(name = "MismatchCountDataProvider") + public Object[][] makeMismatchCountDataProvider() { + List tests = new ArrayList(); + + final int readLength = 20; + final int lengthOfIndel = 2; + final int locationOnReference = 10; + final byte[] reference = Utils.dupBytes((byte)'A', readLength); + final byte[] quals = Utils.dupBytes((byte)'A', readLength); + + + for ( int startOnRead = 0; startOnRead <= readLength; startOnRead++ ) { + for ( int basesToRead = 0; basesToRead <= readLength; basesToRead++ ) { + for ( final int lengthOfSoftClip : Arrays.asList(0, 1, 10) ) { + for ( final int lengthOfFirstM : Arrays.asList(0, 3) ) { + for ( final char middleOp : Arrays.asList('M', 'D', 'I') ) { + for ( final int mismatchLocation : Arrays.asList(-1, 0, 5, 10, 15, 19) ) { + + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, locationOnReference, readLength); + + // set the read's bases and quals + final byte[] readBases = reference.clone(); + // create the mismatch if requested + if ( mismatchLocation != -1 ) + readBases[mismatchLocation] = (byte)'C'; + read.setReadBases(readBases); + read.setBaseQualities(quals); + + // create the CIGAR string + read.setCigarString(buildTestCigarString(middleOp, lengthOfSoftClip, lengthOfFirstM, lengthOfIndel, readLength)); + + // now, determine whether or not there's a mismatch + final boolean isMismatch; + if ( mismatchLocation < startOnRead || mismatchLocation >= startOnRead + basesToRead || mismatchLocation < lengthOfSoftClip ) { + isMismatch = false; + } else if ( middleOp == 'M' || middleOp == 'D' || mismatchLocation < lengthOfSoftClip + lengthOfFirstM || mismatchLocation >= lengthOfSoftClip + lengthOfFirstM + lengthOfIndel ) { + isMismatch = true; + } else { + isMismatch = false; + } + + tests.add(new Object[]{read, locationOnReference, startOnRead, basesToRead, isMismatch}); + } + } + } + } + } + } + + // Adding test to make sure soft-clipped reads go through the exceptions thrown at the beginning of the getMismatchCount method + // todo: incorporate cigars with right-tail soft-clips in the systematic tests above. + GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 10, 20); + read.setReadBases(reference); + read.setBaseQualities(quals); + read.setCigarString("10S5M5S"); + tests.add(new Object[]{read, 10, read.getAlignmentStart(), read.getReadLength(), false}); + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "MismatchCountDataProvider") + public void testMismatchCountData(final GATKSAMRecord read, final int refIndex, final int startOnRead, final int basesToRead, final boolean isMismatch) { + final byte[] reference = Utils.dupBytes((byte)'A', 100); + final int actual = AlignmentUtils.getMismatchCount(read, reference, refIndex, startOnRead, basesToRead).numMismatches; + Assert.assertEquals(actual, isMismatch ? 1 : 0, "Wrong number of mismatches detected for read " + read.getSAMString()); + } + + private static String buildTestCigarString(final char middleOp, final int lengthOfSoftClip, final int lengthOfFirstM, final int lengthOfIndel, final int readLength) { + final StringBuilder cigar = new StringBuilder(); + int remainingLength = readLength; + + // add soft clips to the beginning of the read + if (lengthOfSoftClip > 0 ) { + cigar.append(lengthOfSoftClip).append("S"); + remainingLength -= lengthOfSoftClip; + } + + if ( middleOp == 'M' ) { + cigar.append(remainingLength).append("M"); + } else { + if ( lengthOfFirstM > 0 ) { + cigar.append(lengthOfFirstM).append("M"); + remainingLength -= lengthOfFirstM; + } + + if ( middleOp == 'D' ) { + cigar.append(lengthOfIndel).append("D"); + } else { + cigar.append(lengthOfIndel).append("I"); + remainingLength -= lengthOfIndel; + } + cigar.append(remainingLength).append("M"); + } + + return cigar.toString(); + } + + //////////////////////////////////////////////////////// + // Test AlignmentUtils.calcAlignmentByteArrayOffset() // + //////////////////////////////////////////////////////// + + @DataProvider(name = "AlignmentByteArrayOffsetDataProvider") + public Object[][] makeAlignmentByteArrayOffsetDataProvider() { + List tests = new ArrayList(); + + final int readLength = 20; + final int lengthOfIndel = 2; + final int locationOnReference = 20; + + for ( int offset = 0; offset < readLength; offset++ ) { + for ( final int lengthOfSoftClip : Arrays.asList(0, 1, 10) ) { + for ( final int lengthOfFirstM : Arrays.asList(0, 3) ) { + for ( final char middleOp : Arrays.asList('M', 'D', 'I') ) { + + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, locationOnReference, readLength); + // create the CIGAR string + read.setCigarString(buildTestCigarString(middleOp, lengthOfSoftClip, lengthOfFirstM, lengthOfIndel, readLength)); + + // now, determine the expected alignment offset + final int expected; + boolean isDeletion = false; + if ( offset < lengthOfSoftClip ) { + expected = 0; + } else if ( middleOp == 'M' || offset < lengthOfSoftClip + lengthOfFirstM ) { + expected = offset - lengthOfSoftClip; + } else if ( offset < lengthOfSoftClip + lengthOfFirstM + lengthOfIndel ) { + if ( middleOp == 'D' ) { + isDeletion = true; + expected = offset - lengthOfSoftClip; + } else { + expected = lengthOfFirstM; + } + } else { + expected = offset - lengthOfSoftClip - (middleOp == 'I' ? lengthOfIndel : -lengthOfIndel); + } + + tests.add(new Object[]{read.getCigar(), offset, expected, isDeletion, lengthOfSoftClip}); + } + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "AlignmentByteArrayOffsetDataProvider") + public void testAlignmentByteArrayOffsetData(final Cigar cigar, final int offset, final int expectedResult, final boolean isDeletion, final int lengthOfSoftClip) { + final int actual = AlignmentUtils.calcAlignmentByteArrayOffset(cigar, isDeletion ? -1 : offset, isDeletion, 20, 20 + offset - lengthOfSoftClip); + Assert.assertEquals(actual, expectedResult, "Wrong alignment offset detected for cigar " + cigar.toString()); + } + + //////////////////////////////////////////////////// + // Test AlignmentUtils.readToAlignmentByteArray() // + //////////////////////////////////////////////////// + + @DataProvider(name = "ReadToAlignmentByteArrayDataProvider") + public Object[][] makeReadToAlignmentByteArrayDataProvider() { + List tests = new ArrayList(); + + final int readLength = 20; + final int lengthOfIndel = 2; + final int locationOnReference = 20; + + for ( final int lengthOfSoftClip : Arrays.asList(0, 1, 10) ) { + for ( final int lengthOfFirstM : Arrays.asList(0, 3) ) { + for ( final char middleOp : Arrays.asList('M', 'D', 'I') ) { + + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, locationOnReference, readLength); + // create the CIGAR string + read.setCigarString(buildTestCigarString(middleOp, lengthOfSoftClip, lengthOfFirstM, lengthOfIndel, readLength)); + + // now, determine the byte array size + final int expected = readLength - lengthOfSoftClip - (middleOp == 'I' ? lengthOfIndel : (middleOp == 'D' ? -lengthOfIndel : 0)); + final int indelBasesStart = middleOp != 'M' ? lengthOfFirstM : -1; + + tests.add(new Object[]{read.getCigar(), expected, middleOp, indelBasesStart, lengthOfIndel}); + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(enabled = !DEBUG, dataProvider = "ReadToAlignmentByteArrayDataProvider") + public void testReadToAlignmentByteArrayData(final Cigar cigar, final int expectedLength, final char middleOp, final int startOfIndelBases, final int lengthOfDeletion) { + final byte[] read = Utils.dupBytes((byte)'A', cigar.getReadLength()); + final byte[] alignment = AlignmentUtils.readToAlignmentByteArray(cigar, read); + + Assert.assertEquals(alignment.length, expectedLength, "Wrong alignment length detected for cigar " + cigar.toString()); + + for ( int i = 0; i < alignment.length; i++ ) { + final byte expectedBase; + if ( middleOp == 'D' && i >= startOfIndelBases && i < startOfIndelBases + lengthOfDeletion ) + expectedBase = PileupElement.DELETION_BASE; + else if ( middleOp == 'I' && i == startOfIndelBases - 1 ) + expectedBase = PileupElement.A_FOLLOWED_BY_INSERTION_BASE; + else + expectedBase = (byte)'A'; + Assert.assertEquals(alignment[i], expectedBase, "Wrong base detected at position " + i); + } + } + + ////////////////////////////////////////// + // Test AlignmentUtils.leftAlignIndel() // + ////////////////////////////////////////// + + @DataProvider(name = "LeftAlignIndelDataProvider") + public Object[][] makeLeftAlignIndelDataProvider() { + List tests = new ArrayList(); + + final byte[] repeat1Reference = "ABCDEFGHIJKLMNOPXXXXXXXXXXABCDEFGHIJKLMNOP".getBytes(); + final byte[] repeat2Reference = "ABCDEFGHIJKLMNOPXYXYXYXYXYABCDEFGHIJKLMNOP".getBytes(); + final byte[] repeat3Reference = "ABCDEFGHIJKLMNOPXYZXYZXYZXYZABCDEFGHIJKLMN".getBytes(); + final int referenceLength = repeat1Reference.length; + + for ( int indelStart = 0; indelStart < repeat1Reference.length; indelStart++ ) { + for ( final int indelSize : Arrays.asList(0, 1, 2, 3, 4) ) { + for ( final char indelOp : Arrays.asList('D', 'I') ) { + + if ( indelOp == 'D' && indelStart + indelSize >= repeat1Reference.length ) + continue; + + final int readLength = referenceLength - (indelOp == 'D' ? indelSize : -indelSize); + + // create the original CIGAR string + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, readLength); + read.setCigarString(buildTestCigarString(indelSize == 0 ? 'M' : indelOp, 0, indelStart, indelSize, readLength)); + final Cigar originalCigar = read.getCigar(); + + final Cigar expectedCigar1 = makeExpectedCigar1(originalCigar, indelOp, indelStart, indelSize, readLength); + final byte[] readString1 = makeReadString(repeat1Reference, indelOp, indelStart, indelSize, readLength, 1); + tests.add(new Object[]{originalCigar, expectedCigar1, repeat1Reference, readString1, 1}); + + final Cigar expectedCigar2 = makeExpectedCigar2(originalCigar, indelOp, indelStart, indelSize, readLength); + final byte[] readString2 = makeReadString(repeat2Reference, indelOp, indelStart, indelSize, readLength, 2); + tests.add(new Object[]{originalCigar, expectedCigar2, repeat2Reference, readString2, 2}); + + final Cigar expectedCigar3 = makeExpectedCigar3(originalCigar, indelOp, indelStart, indelSize, readLength); + final byte[] readString3 = makeReadString(repeat3Reference, indelOp, indelStart, indelSize, readLength, 3); + tests.add(new Object[]{originalCigar, expectedCigar3, repeat3Reference, readString3, 3}); + } + } + } + + return tests.toArray(new Object[][]{}); + } + + private Cigar makeExpectedCigar1(final Cigar originalCigar, final char indelOp, final int indelStart, final int indelSize, final int readLength) { + if ( indelSize == 0 || indelStart < 17 || indelStart > (26 - (indelOp == 'D' ? indelSize : 0)) ) + return originalCigar; + + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, readLength); + read.setCigarString(buildTestCigarString(indelOp, 0, 16, indelSize, readLength)); + return read.getCigar(); + } + + private Cigar makeExpectedCigar2(final Cigar originalCigar, final char indelOp, final int indelStart, final int indelSize, final int readLength) { + if ( indelStart < 17 || indelStart > (26 - (indelOp == 'D' ? indelSize : 0)) ) + return originalCigar; + + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, readLength); + + if ( indelOp == 'I' && (indelSize == 1 || indelSize == 3) && indelStart % 2 == 1 ) + read.setCigarString(buildTestCigarString(indelOp, 0, Math.max(indelStart - indelSize, 16), indelSize, readLength)); + else if ( (indelSize == 2 || indelSize == 4) && (indelOp == 'D' || indelStart % 2 == 0) ) + read.setCigarString(buildTestCigarString(indelOp, 0, 16, indelSize, readLength)); + else + return originalCigar; + + return read.getCigar(); + } + + private Cigar makeExpectedCigar3(final Cigar originalCigar, final char indelOp, final int indelStart, final int indelSize, final int readLength) { + if ( indelStart < 17 || indelStart > (28 - (indelOp == 'D' ? indelSize : 0)) ) + return originalCigar; + + final GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "myRead", 0, 1, readLength); + + if ( indelSize == 3 && (indelOp == 'D' || indelStart % 3 == 1) ) + read.setCigarString(buildTestCigarString(indelOp, 0, 16, indelSize, readLength)); + else if ( (indelOp == 'I' && indelSize == 4 && indelStart % 3 == 2) || + (indelOp == 'I' && indelSize == 2 && indelStart % 3 == 0) || + (indelOp == 'I' && indelSize == 1 && indelStart < 28 && indelStart % 3 == 2) ) + read.setCigarString(buildTestCigarString(indelOp, 0, Math.max(indelStart - indelSize, 16), indelSize, readLength)); + else + return originalCigar; + + return read.getCigar(); + } + + private static byte[] makeReadString(final byte[] reference, final char indelOp, final int indelStart, final int indelSize, final int readLength, final int repeatLength) { + final byte[] readString = new byte[readLength]; + + if ( indelOp == 'D' && indelSize > 0 ) { + System.arraycopy(reference, 0, readString, 0, indelStart); + System.arraycopy(reference, indelStart + indelSize, readString, indelStart, readLength - indelStart); + } else if ( indelOp == 'I' && indelSize > 0 ) { + System.arraycopy(reference, 0, readString, 0, indelStart); + for ( int i = 0; i < indelSize; i++ ) { + if ( i % repeatLength == 0 ) + readString[indelStart + i] = 'X'; + else if ( i % repeatLength == 1 ) + readString[indelStart + i] = 'Y'; + else + readString[indelStart + i] = 'Z'; + } + System.arraycopy(reference, indelStart, readString, indelStart + indelSize, readLength - indelStart - indelSize); + } else { + System.arraycopy(reference, 0, readString, 0, readLength); + } + + return readString; + } + + @Test(enabled = !DEBUG, dataProvider = "LeftAlignIndelDataProvider") + public void testLeftAlignIndelData(final Cigar originalCigar, final Cigar expectedCigar, final byte[] reference, final byte[] read, final int repeatLength) { + final Cigar actualCigar = AlignmentUtils.leftAlignIndel(originalCigar, reference, read, 0, 0, true); + Assert.assertTrue(expectedCigar.equals(actualCigar), "Wrong left alignment detected for cigar " + originalCigar.toString() + " to " + actualCigar.toString() + " but expected " + expectedCigar.toString() + " with repeat length " + repeatLength); + } + + ////////////////////////////////////////// + // Test AlignmentUtils.trimCigarByReference() // + ////////////////////////////////////////// + + @DataProvider(name = "TrimCigarData") + public Object[][] makeTrimCigarData() { + List tests = new ArrayList(); + + for ( final CigarOperator op : Arrays.asList(CigarOperator.D, CigarOperator.EQ, CigarOperator.X, CigarOperator.M) ) { + for ( int myLength = 1; myLength < 6; myLength++ ) { + for ( int start = 0; start < myLength - 1; start++ ) { + for ( int end = start; end < myLength; end++ ) { + final int length = end - start + 1; + + final List padOps = Arrays.asList(CigarOperator.D, CigarOperator.M); + for ( final CigarOperator padOp: padOps) { + for ( int leftPad = 0; leftPad < 2; leftPad++ ) { + for ( int rightPad = 0; rightPad < 2; rightPad++ ) { + tests.add(new Object[]{ + (leftPad > 0 ? leftPad + padOp.toString() : "") + myLength + op.toString() + (rightPad > 0 ? rightPad + padOp.toString() : ""), + start + leftPad, + end + leftPad, + length + op.toString()}); + } + } + } + } + } + } + } + + for ( final int leftPad : Arrays.asList(0, 1, 2, 5) ) { + for ( final int rightPad : Arrays.asList(0, 1, 2, 5) ) { + final int length = leftPad + rightPad; + if ( length > 0 ) { + for ( final int insSize : Arrays.asList(1, 10) ) { + for ( int start = 0; start <= leftPad; start++ ) { + for ( int stop = leftPad; stop < length; stop++ ) { + final int leftPadRemaining = leftPad - start; + final int rightPadRemaining = stop - leftPad + 1; + final String insC = insSize + "I"; + tests.add(new Object[]{ + leftPad + "M" + insC + rightPad + "M", + start, + stop, + (leftPadRemaining > 0 ? leftPadRemaining + "M" : "") + insC + (rightPadRemaining > 0 ? rightPadRemaining + "M" : "") + }); + } + } + } + } + } + } + + tests.add(new Object[]{"3M2D4M", 0, 8, "3M2D4M"}); + tests.add(new Object[]{"3M2D4M", 2, 8, "1M2D4M"}); + tests.add(new Object[]{"3M2D4M", 2, 6, "1M2D2M"}); + tests.add(new Object[]{"3M2D4M", 3, 6, "2D2M"}); + tests.add(new Object[]{"3M2D4M", 4, 6, "1D2M"}); + tests.add(new Object[]{"3M2D4M", 5, 6, "2M"}); + tests.add(new Object[]{"3M2D4M", 6, 6, "1M"}); + + tests.add(new Object[]{"2M3I4M", 0, 5, "2M3I4M"}); + tests.add(new Object[]{"2M3I4M", 1, 5, "1M3I4M"}); + tests.add(new Object[]{"2M3I4M", 1, 4, "1M3I3M"}); + tests.add(new Object[]{"2M3I4M", 2, 4, "3I3M"}); + tests.add(new Object[]{"2M3I4M", 2, 3, "3I2M"}); + tests.add(new Object[]{"2M3I4M", 2, 2, "3I1M"}); + tests.add(new Object[]{"2M3I4M", 3, 4, "2M"}); + tests.add(new Object[]{"2M3I4M", 3, 3, "1M"}); + tests.add(new Object[]{"2M3I4M", 4, 4, "1M"}); + + // this doesn't work -- but I'm not sure it should + // tests.add(new Object[]{"2M3I4M", 2, 1, "3I"}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "TrimCigarData", enabled = ! DEBUG) + public void testTrimCigar(final String cigarString, final int start, final int length, final String expectedCigarString) { + final Cigar cigar = TextCigarCodec.getSingleton().decode(cigarString); + final Cigar expectedCigar = TextCigarCodec.getSingleton().decode(expectedCigarString); + final Cigar actualCigar = AlignmentUtils.trimCigarByReference(cigar, start, length); + Assert.assertEquals(actualCigar, expectedCigar); + } + + @DataProvider(name = "TrimCigarByBasesData") + public Object[][] makeTrimCigarByBasesData() { + List tests = new ArrayList(); + + tests.add(new Object[]{"2M3I4M", 0, 8, "2M3I4M"}); + tests.add(new Object[]{"2M3I4M", 1, 8, "1M3I4M"}); + tests.add(new Object[]{"2M3I4M", 2, 8, "3I4M"}); + tests.add(new Object[]{"2M3I4M", 3, 8, "2I4M"}); + tests.add(new Object[]{"2M3I4M", 4, 8, "1I4M"}); + tests.add(new Object[]{"2M3I4M", 4, 7, "1I3M"}); + tests.add(new Object[]{"2M3I4M", 4, 6, "1I2M"}); + tests.add(new Object[]{"2M3I4M", 4, 5, "1I1M"}); + tests.add(new Object[]{"2M3I4M", 4, 4, "1I"}); + tests.add(new Object[]{"2M3I4M", 5, 5, "1M"}); + + tests.add(new Object[]{"2M2D2I", 0, 3, "2M2D2I"}); + tests.add(new Object[]{"2M2D2I", 1, 3, "1M2D2I"}); + tests.add(new Object[]{"2M2D2I", 2, 3, "2D2I"}); + tests.add(new Object[]{"2M2D2I", 3, 3, "1I"}); + tests.add(new Object[]{"2M2D2I", 2, 2, "2D1I"}); + tests.add(new Object[]{"2M2D2I", 1, 2, "1M2D1I"}); + tests.add(new Object[]{"2M2D2I", 1, 1, "1M"}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "TrimCigarByBasesData", enabled = !DEBUG) + public void testTrimCigarByBase(final String cigarString, final int start, final int length, final String expectedCigarString) { + final Cigar cigar = TextCigarCodec.getSingleton().decode(cigarString); + final Cigar expectedCigar = TextCigarCodec.getSingleton().decode(expectedCigarString); + final Cigar actualCigar = AlignmentUtils.trimCigarByBases(cigar, start, length); + Assert.assertEquals(actualCigar, expectedCigar); + } + + ////////////////////////////////////////// + // Test AlignmentUtils.applyCigarToCigar() // + ////////////////////////////////////////// + + @DataProvider(name = "ApplyCigarToCigarData") + public Object[][] makeApplyCigarToCigarData() { + List tests = new ArrayList(); + + for ( int i = 1; i < 5; i++ ) + tests.add(new Object[]{i + "M", i + "M", i + "M"}); + +// * ref : ACGTAC +// * hap : AC---C - 2M3D1M +// * read : AC---C - 3M +// * result: AG---C => 2M3D + tests.add(new Object[]{"3M", "2M3D1M", "2M3D1M"}); + +// * ref : ACxG-TA +// * hap : AC-G-TA - 2M1D3M +// * read : AC-GxTA - 3M1I2M +// * result: AC-GxTA => 2M1D1M1I2M + tests.add(new Object[]{"3M1I2M", "2M1D3M", "2M1D1M1I2M"}); + +// * ref : A-CGTA +// * hap : A-CGTA - 5M +// * read : AxCGTA - 1M1I4M +// * result: AxCGTA => 1M1I4M + tests.add(new Object[]{"1M1I4M", "5M", "1M1I4M"}); + +// * ref : ACGTA +// * hap : ACGTA - 5M +// * read : A--TA - 1M2D2M +// * result: A--TA => 1M2D2M + tests.add(new Object[]{"1M2D2M", "5M", "1M2D2M"}); + +// * ref : AC-GTA +// * hap : ACxGTA - 2M1I3M +// * read : A--GTA - 1M2D3M +// * result: A--GTA => 1M1D3M + tests.add(new Object[]{"108M14D24M2M18I29M92M1000M", "2M1I3M", "2M1I3M"}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ApplyCigarToCigarData", enabled = !DEBUG) + public void testApplyCigarToCigar(final String firstToSecondString, final String secondToThirdString, final String expectedCigarString) { + final Cigar firstToSecond = TextCigarCodec.getSingleton().decode(firstToSecondString); + final Cigar secondToThird = TextCigarCodec.getSingleton().decode(secondToThirdString); + final Cigar expectedCigar = TextCigarCodec.getSingleton().decode(expectedCigarString); + final Cigar actualCigar = AlignmentUtils.applyCigarToCigar(firstToSecond, secondToThird); + Assert.assertEquals(actualCigar, expectedCigar); + } + + ////////////////////////////////////////// + // Test AlignmentUtils.applyCigarToCigar() // + ////////////////////////////////////////// + + @DataProvider(name = "ReadOffsetFromCigarData") + public Object[][] makeReadOffsetFromCigarData() { + List tests = new ArrayList(); + + final int SIZE = 10; + for ( int i = 0; i < SIZE; i++ ) { + tests.add(new Object[]{SIZE + "M", i, i}); + } + + // 0123ii45 + // ref : ACGT--AC + // hap : AC--xxAC (2M2D2I2M) + // ref.pos: 01 45 + tests.add(new Object[]{"2M2D2I2M", 0, 0}); + tests.add(new Object[]{"2M2D2I2M", 1, 1}); + tests.add(new Object[]{"2M2D2I2M", 2, 4}); + tests.add(new Object[]{"2M2D2I2M", 3, 4}); + tests.add(new Object[]{"2M2D2I2M", 4, 4}); + tests.add(new Object[]{"2M2D2I2M", 5, 5}); + + // 10132723 - 10132075 - 500 = 148 + // what's the offset of the first match after the I? + // 108M + 14D + 24M + 2M = 148 + // What's the offset of the first base that is after the I? + // 108M + 24M + 2M + 18I = 134M + 18I = 152 - 1 = 151 + tests.add(new Object[]{"108M14D24M2M18I29M92M", 0, 0}); + tests.add(new Object[]{"108M14D24M2M18I29M92M", 107, 107}); + tests.add(new Object[]{"108M14D24M2M18I29M92M", 108, 108 + 14}); // first base after the deletion + + tests.add(new Object[]{"108M14D24M2M18I29M92M", 132, 132+14}); // 2 before insertion + tests.add(new Object[]{"108M14D24M2M18I29M92M", 133, 133+14}); // last base before insertion + + // entering into the insertion + for ( int i = 0; i < 18; i++ ) { + tests.add(new Object[]{"108M14D24M2M18I29M92M", 134+i, 148}); // inside insertion + } + tests.add(new Object[]{"108M14D24M2M18I29M92M", 134+18, 148}); // first base after insertion matches at same as insertion + tests.add(new Object[]{"108M14D24M2M18I29M92M", 134+18+1, 149}); + tests.add(new Object[]{"108M14D24M2M18I29M92M", 134+18+2, 150}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ReadOffsetFromCigarData", enabled = !DEBUG) + public void testReadOffsetFromCigar(final String cigarString, final int startOnCigar, final int expectedOffset) { + final Cigar cigar = TextCigarCodec.getSingleton().decode(cigarString); + final int actualOffset = AlignmentUtils.calcFirstBaseMatchingReferenceInCigar(cigar, startOnCigar); + Assert.assertEquals(actualOffset, expectedOffset); + } + + ////////////////////////////////////////// + // Test AlignmentUtils.addCigarElements() // + ////////////////////////////////////////// + + @DataProvider(name = "AddCigarElementsData") + public Object[][] makeAddCigarElementsData() { + List tests = new ArrayList(); + + final int SIZE = 10; + for ( final CigarOperator op : Arrays.asList(CigarOperator.I, CigarOperator.M, CigarOperator.S, CigarOperator.EQ, CigarOperator.X)) { + for ( int start = 0; start < SIZE; start++ ) { + for ( int end = start; end < SIZE * 2; end ++ ) { + for ( int pos = 0; pos < SIZE * 3; pos++ ) { + int length = 0; + for ( int i = 0; i < SIZE; i++ ) length += (i+pos) >= start && (i+pos) <= end ? 1 : 0; + tests.add(new Object[]{SIZE + op.toString(), pos, start, end, length > 0 ? length + op.toString() : "*"}); + } + } + } + } + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "AddCigarElementsData", enabled = !DEBUG) + public void testAddCigarElements(final String cigarString, final int pos, final int start, final int end, final String expectedCigarString) { + final Cigar cigar = TextCigarCodec.getSingleton().decode(cigarString); + final CigarElement elt = cigar.getCigarElement(0); + final Cigar expectedCigar = TextCigarCodec.getSingleton().decode(expectedCigarString); + + final List elts = new LinkedList(); + final int actualEndPos = AlignmentUtils.addCigarElements(elts, pos, start, end, elt); + + Assert.assertEquals(actualEndPos, pos + elt.getLength()); + Assert.assertEquals(AlignmentUtils.consolidateCigar(new Cigar(elts)), expectedCigar); + } } diff --git a/public/java/test/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriterUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriterUnitTest.java index 69c670198..6f8fed8e0 100644 --- a/public/java/test/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriterUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/sam/ArtificialSAMFileWriterUnitTest.java @@ -65,14 +65,14 @@ import java.util.List; /** * @author aaron *

    - * Class ArtificialSAMFileWriter + * Class ArtificialStingSAMFileWriter *

    - * Test out the ArtificialSAMFileWriter class + * Test out the ArtificialStingSAMFileWriter class */ public class ArtificialSAMFileWriterUnitTest extends BaseTest { /** the artificial sam writer */ - private ArtificialSAMFileWriter writer; + private ArtificialStingSAMFileWriter writer; private SAMFileHeader header; private final int startChr = 1; private final int numChr = 2; @@ -80,7 +80,7 @@ public class ArtificialSAMFileWriterUnitTest extends BaseTest { @BeforeMethod public void before() { - writer = new ArtificialSAMFileWriter(); + writer = new ArtificialStingSAMFileWriter(); header = ArtificialSAMUtils.createArtificialSamHeader(numChr, startChr, chrSize); } diff --git a/public/java/test/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityUnitTest.java index 3b2696554..eca27fcb2 100644 --- a/public/java/test/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/sam/MisencodedBaseQualityUnitTest.java @@ -34,6 +34,7 @@ import org.testng.annotations.BeforeMethod; import org.testng.annotations.Test; import java.util.ArrayList; +import java.util.Arrays; import java.util.List; /** @@ -49,11 +50,15 @@ public class MisencodedBaseQualityUnitTest extends BaseTest { @BeforeMethod public void before() { + // reset the read counter so that we are deterministic + MisencodedBaseQualityReadTransformer.currentReadCounter = 0; header = ArtificialSAMUtils.createArtificialSamHeader(1, 1, 1000); } private GATKSAMRecord createRead(final boolean useGoodBases) { - GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "foo", 0, 10, readBases.getBytes(), useGoodBases ? goodQuals : badQuals); + GATKSAMRecord read = ArtificialSAMUtils.createArtificialRead(header, "foo", 0, 10, readBases.getBytes(), + useGoodBases ? Arrays.copyOf(goodQuals, goodQuals.length) : + Arrays.copyOf(badQuals, badQuals.length)); read.setCigarString("10M"); return read; } diff --git a/public/java/test/org/broadinstitute/sting/utils/sam/ReadUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/sam/ReadUtilsUnitTest.java index b01c53e77..baad67d53 100644 --- a/public/java/test/org/broadinstitute/sting/utils/sam/ReadUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/sam/ReadUtilsUnitTest.java @@ -32,9 +32,7 @@ import org.testng.Assert; import org.testng.annotations.DataProvider; import org.testng.annotations.Test; -import java.util.LinkedList; -import java.util.List; -import java.util.Random; +import java.util.*; public class ReadUtilsUnitTest extends BaseTest { @@ -165,4 +163,20 @@ public class ReadUtilsUnitTest extends BaseTest { Assert.assertEquals(reconverted, original); } } + + @Test (enabled = true) + public void testGetMaxReadLength() { + for( final int minLength : Arrays.asList( 5, 30, 50 ) ) { + for( final int maxLength : Arrays.asList( 50, 75, 100 ) ) { + final List reads = new ArrayList(); + for( int readLength = minLength; readLength <= maxLength; readLength++ ) { + reads.add( ReadUtils.createRandomRead( readLength ) ); + } + Assert.assertEquals(ReadUtils.getMaxReadLength(reads), maxLength, "max length does not match"); + } + } + + final List reads = new LinkedList(); + Assert.assertEquals(ReadUtils.getMaxReadLength(reads), 0, "Empty list should have max length of zero"); + } } diff --git a/public/java/test/org/broadinstitute/sting/utils/variant/GATKVariantContextUtilsUnitTest.java b/public/java/test/org/broadinstitute/sting/utils/variant/GATKVariantContextUtilsUnitTest.java index 6ff052bdc..2a15d709a 100644 --- a/public/java/test/org/broadinstitute/sting/utils/variant/GATKVariantContextUtilsUnitTest.java +++ b/public/java/test/org/broadinstitute/sting/utils/variant/GATKVariantContextUtilsUnitTest.java @@ -1,6 +1,6 @@ /* * Copyright (c) 2012 The Broad Institute -* +* * Permission is hereby granted, free of charge, to any person * obtaining a copy of this software and associated documentation * files (the "Software"), to deal in the Software without @@ -9,10 +9,10 @@ * copies of the Software, and to permit persons to whom the * Software is furnished to do so, subject to the following * conditions: -* +* * The above copyright notice and this permission notice shall be * included in all copies or substantial portions of the Software. -* +* * THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, * EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES * OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND @@ -618,7 +618,7 @@ public class GATKVariantContextUtilsUnitTest extends BaseTest { @Test(dataProvider = "ReverseClippingPositionTestProvider") public void testReverseClippingPositionTestProvider(ReverseClippingPositionTestProvider cfg) { - int result = GATKVariantContextUtils.computeReverseClipping(cfg.alleles, cfg.ref.getBytes(), 0, false); + int result = GATKVariantContextUtils.computeReverseClipping(cfg.alleles, cfg.ref.getBytes()); Assert.assertEquals(result, cfg.expectedClip); } @@ -702,7 +702,7 @@ public class GATKVariantContextUtilsUnitTest extends BaseTest { for ( int i = 0; i < biallelics.size(); i++ ) { final VariantContext actual = biallelics.get(i); final VariantContext expected = expectedBiallelics.get(i); - VariantContextTestProvider.assertEquals(actual, expected); + assertVariantContextsAreEqual(actual, expected); } } @@ -888,4 +888,92 @@ public class GATKVariantContextUtilsUnitTest extends BaseTest { Assert.assertEquals(result.getSecond().length,2); } -} + + // -------------------------------------------------------------------------------- + // + // test forward clipping + // + // -------------------------------------------------------------------------------- + + @DataProvider(name = "ForwardClippingData") + public Object[][] makeForwardClippingData() { + List tests = new ArrayList(); + + // this functionality can be adapted to provide input data for whatever you might want in your data + tests.add(new Object[]{Arrays.asList("A"), -1}); + tests.add(new Object[]{Arrays.asList(""), -1}); + tests.add(new Object[]{Arrays.asList("A", "C"), -1}); + tests.add(new Object[]{Arrays.asList("AC", "C"), -1}); + tests.add(new Object[]{Arrays.asList("A", "G"), -1}); + tests.add(new Object[]{Arrays.asList("A", "T"), -1}); + tests.add(new Object[]{Arrays.asList("GT", "CA"), -1}); + tests.add(new Object[]{Arrays.asList("GT", "CT"), -1}); + tests.add(new Object[]{Arrays.asList("ACC", "AC"), 0}); + tests.add(new Object[]{Arrays.asList("ACGC", "ACG"), 1}); + tests.add(new Object[]{Arrays.asList("ACGC", "ACG"), 1}); + tests.add(new Object[]{Arrays.asList("ACGC", "ACGA"), 2}); + tests.add(new Object[]{Arrays.asList("ACGC", "AGC"), 0}); + tests.add(new Object[]{Arrays.asList("A", ""), -1}); + for ( int len = 0; len < 50; len++ ) + tests.add(new Object[]{Arrays.asList("A" + new String(Utils.dupBytes((byte)'C', len)), "C"), -1}); + + tests.add(new Object[]{Arrays.asList("A", "T", "C"), -1}); + tests.add(new Object[]{Arrays.asList("AT", "AC", "AG"), 0}); + tests.add(new Object[]{Arrays.asList("AT", "AC", "A"), -1}); + tests.add(new Object[]{Arrays.asList("AT", "AC", "ACG"), 0}); + tests.add(new Object[]{Arrays.asList("AC", "AC", "ACG"), 0}); + tests.add(new Object[]{Arrays.asList("AC", "ACT", "ACG"), 0}); + tests.add(new Object[]{Arrays.asList("ACG", "ACGT", "ACGTA"), 1}); + tests.add(new Object[]{Arrays.asList("ACG", "ACGT", "ACGCA"), 1}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ForwardClippingData") + public void testForwardClipping(final List alleleStrings, final int expectedClip) { + final List alleles = new LinkedList(); + for ( final String alleleString : alleleStrings ) + alleles.add(Allele.create(alleleString)); + + for ( final List myAlleles : Utils.makePermutations(alleles, alleles.size(), false)) { + final int actual = GATKVariantContextUtils.computeForwardClipping(myAlleles); + Assert.assertEquals(actual, expectedClip); + } + } + + @DataProvider(name = "ClipAlleleTest") + public Object[][] makeClipAlleleTest() { + List tests = new ArrayList(); + + // this functionality can be adapted to provide input data for whatever you might want in your data + tests.add(new Object[]{Arrays.asList("ACC", "AC"), Arrays.asList("AC", "A"), 0}); + tests.add(new Object[]{Arrays.asList("ACGC", "ACG"), Arrays.asList("GC", "G"), 2}); + tests.add(new Object[]{Arrays.asList("ACGC", "ACGA"), Arrays.asList("C", "A"), 3}); + tests.add(new Object[]{Arrays.asList("ACGC", "AGC"), Arrays.asList("AC", "A"), 0}); + tests.add(new Object[]{Arrays.asList("AT", "AC", "AG"), Arrays.asList("T", "C", "G"), 1}); + tests.add(new Object[]{Arrays.asList("AT", "AC", "ACG"), Arrays.asList("T", "C", "CG"), 1}); + tests.add(new Object[]{Arrays.asList("AC", "ACT", "ACG"), Arrays.asList("C", "CT", "CG"), 1}); + tests.add(new Object[]{Arrays.asList("ACG", "ACGT", "ACGTA"), Arrays.asList("G", "GT", "GTA"), 2}); + tests.add(new Object[]{Arrays.asList("ACG", "ACGT", "ACGCA"), Arrays.asList("G", "GT", "GCA"), 2}); + + // trims from left and right + tests.add(new Object[]{Arrays.asList("ACGTT", "ACCTT"), Arrays.asList("G", "C"), 2}); + tests.add(new Object[]{Arrays.asList("ACGTT", "ACCCTT"), Arrays.asList("G", "CC"), 2}); + tests.add(new Object[]{Arrays.asList("ACGTT", "ACGCTT"), Arrays.asList("G", "GC"), 2}); + + return tests.toArray(new Object[][]{}); + } + + @Test(dataProvider = "ClipAlleleTest") + public void testClipAlleles(final List alleleStrings, final List expected, final int numLeftClipped) { + final int start = 10; + final VariantContext unclipped = GATKVariantContextUtils.makeFromAlleles("test", "20", start, alleleStrings); + final VariantContext clipped = GATKVariantContextUtils.trimAlleles(unclipped, true, true); + + Assert.assertEquals(clipped.getStart(), unclipped.getStart() + numLeftClipped); + for ( int i = 0; i < unclipped.getAlleles().size(); i++ ) { + final Allele trimmed = clipped.getAlleles().get(i); + Assert.assertEquals(trimmed.getBaseString(), expected.get(i)); + } + } +} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/VariantBaseTest.java b/public/java/test/org/broadinstitute/variant/VariantBaseTest.java deleted file mode 100644 index 6cec4d40b..000000000 --- a/public/java/test/org/broadinstitute/variant/VariantBaseTest.java +++ /dev/null @@ -1,166 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant; - -import org.testng.Assert; - -import java.io.File; -import java.io.IOException; -import java.util.*; - -/** - * Base class for test classes within org.broadinstitute.variant - */ -public class VariantBaseTest { - - public static final String hg19Reference = "/seq/references/Homo_sapiens_assembly19/v1/Homo_sapiens_assembly19.fasta"; - public static final String b37KGReference = "/humgen/1kg/reference/human_g1k_v37.fasta"; - - // TODO: change this to an appropriate value once the move to the Picard repo takes place - public static final String variantTestDataRoot = new File("private/testdata/").getAbsolutePath() + "/"; - - /** - * Simple generic utility class to creating TestNG data providers: - * - * 1: inherit this class, as in - * - * private class SummarizeDifferenceTest extends TestDataProvider { - * public SummarizeDifferenceTest() { - * super(SummarizeDifferenceTest.class); - * } - * ... - * } - * - * Provide a reference to your class to the TestDataProvider constructor. - * - * 2: Create instances of your subclass. Return from it the call to getTests, providing - * the class type of your test - * - * @DataProvider(name = "summaries" - * public Object[][] createSummaries() { - * new SummarizeDifferenceTest().addDiff("A", "A").addSummary("A:2"); - * new SummarizeDifferenceTest().addDiff("A", "B").addSummary("A:1", "B:1"); - * return SummarizeDifferenceTest.getTests(SummarizeDifferenceTest.class); - * } - * - * This class magically tracks created objects of this - */ - public static class TestDataProvider { - private static final Map> tests = new HashMap>(); - protected String name; - - /** - * Create a new TestDataProvider instance bound to the class variable C - * @param c - */ - public TestDataProvider(Class c, String name) { - if ( ! tests.containsKey(c) ) - tests.put(c, new ArrayList()); - tests.get(c).add(this); - this.name = name; - } - - public TestDataProvider(Class c) { - this(c, ""); - } - - public void setName(final String name) { - this.name = name; - } - - /** - * Return all of the data providers in the form expected by TestNG of type class C - * @param c - * @return - */ - public static Object[][] getTests(Class c) { - List params2 = new ArrayList(); - for ( Object x : tests.get(c) ) params2.add(new Object[]{x}); - return params2.toArray(new Object[][]{}); - } - - @Override - public String toString() { - return "TestDataProvider("+name+")"; - } - } - - /** - * Creates a temp file that will be deleted on exit after tests are complete. - * @param name Prefix of the file. - * @param extension Extension to concat to the end of the file. - * @return A file in the temporary directory starting with name, ending with extension, which will be deleted after the program exits. - */ - public static File createTempFile(String name, String extension) { - try { - File file = File.createTempFile(name, extension); - file.deleteOnExit(); - return file; - } catch (IOException ex) { - throw new RuntimeException("Cannot create temp file: " + ex.getMessage(), ex); - } - } - - private static final double DEFAULT_FLOAT_TOLERANCE = 1e-1; - - public static final void assertEqualsDoubleSmart(final Object actual, final Double expected) { - Assert.assertTrue(actual instanceof Double, "Not a double"); - assertEqualsDoubleSmart((double)(Double)actual, (double)expected); - } - - public static final void assertEqualsDoubleSmart(final Object actual, final Double expected, final double tolerance) { - Assert.assertTrue(actual instanceof Double, "Not a double"); - assertEqualsDoubleSmart((double)(Double)actual, (double)expected, tolerance); - } - - public static final void assertEqualsDoubleSmart(final double actual, final double expected) { - assertEqualsDoubleSmart(actual, expected, DEFAULT_FLOAT_TOLERANCE); - } - - public static final void assertEqualsSet(final Set actual, final Set expected, final String info) { - final Set actualSet = new HashSet(actual); - final Set expectedSet = new HashSet(expected); - Assert.assertTrue(actualSet.equals(expectedSet), info); // note this is necessary due to testng bug for set comps - } - - public static void assertEqualsDoubleSmart(final double actual, final double expected, final double tolerance) { - assertEqualsDoubleSmart(actual, expected, tolerance, null); - } - - public static void assertEqualsDoubleSmart(final double actual, final double expected, final double tolerance, final String message) { - if ( Double.isNaN(expected) ) // NaN == NaN => false unfortunately - Assert.assertTrue(Double.isNaN(actual), "expected is nan, actual is not"); - else if ( Double.isInfinite(expected) ) // NaN == NaN => false unfortunately - Assert.assertTrue(Double.isInfinite(actual), "expected is infinite, actual is not"); - else { - final double delta = Math.abs(actual - expected); - final double ratio = Math.abs(actual / expected - 1.0); - Assert.assertTrue(delta < tolerance || ratio < tolerance, "expected = " + expected + " actual = " + actual - + " not within tolerance " + tolerance - + (message == null ? "" : "message: " + message)); - } - } -} diff --git a/public/java/test/org/broadinstitute/variant/bcf2/BCF2EncoderDecoderUnitTest.java b/public/java/test/org/broadinstitute/variant/bcf2/BCF2EncoderDecoderUnitTest.java deleted file mode 100644 index 8f3a216b7..000000000 --- a/public/java/test/org/broadinstitute/variant/bcf2/BCF2EncoderDecoderUnitTest.java +++ /dev/null @@ -1,573 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -// the imports for unit testing. -import org.apache.commons.lang.ArrayUtils; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.variantcontext.writer.BCF2Encoder; -import org.testng.Assert; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.io.ByteArrayInputStream; -import java.io.ByteArrayOutputStream; -import java.io.IOException; -import java.io.InputStream; -import java.util.ArrayList; -import java.util.Arrays; -import java.util.Collections; -import java.util.List; - - -public class BCF2EncoderDecoderUnitTest extends VariantBaseTest { - private final double FLOAT_TOLERANCE = 1e-6; - final List primitives = new ArrayList(); - final List basicTypes = new ArrayList(); - final List forCombinations = new ArrayList(); - - @BeforeSuite - public void before() { - basicTypes.add(new BCF2TypedValue(1, BCF2Type.INT8)); - basicTypes.add(new BCF2TypedValue(1000, BCF2Type.INT16)); - basicTypes.add(new BCF2TypedValue(1000000, BCF2Type.INT32)); - basicTypes.add(new BCF2TypedValue(1.2345e6, BCF2Type.FLOAT)); - basicTypes.add(new BCF2TypedValue("A", BCF2Type.CHAR)); - - // small ints - primitives.add(new BCF2TypedValue(0, BCF2Type.INT8)); - primitives.add(new BCF2TypedValue(10, BCF2Type.INT8)); - primitives.add(new BCF2TypedValue(-1, BCF2Type.INT8)); - primitives.add(new BCF2TypedValue(100, BCF2Type.INT8)); - primitives.add(new BCF2TypedValue(-100, BCF2Type.INT8)); - primitives.add(new BCF2TypedValue(-127, BCF2Type.INT8)); // last value in range - primitives.add(new BCF2TypedValue( 127, BCF2Type.INT8)); // last value in range - - // medium ints - primitives.add(new BCF2TypedValue(-1000, BCF2Type.INT16)); - primitives.add(new BCF2TypedValue(1000, BCF2Type.INT16)); - primitives.add(new BCF2TypedValue(-128, BCF2Type.INT16)); // first value in range - primitives.add(new BCF2TypedValue( 128, BCF2Type.INT16)); // first value in range - primitives.add(new BCF2TypedValue(-32767, BCF2Type.INT16)); // last value in range - primitives.add(new BCF2TypedValue( 32767, BCF2Type.INT16)); // last value in range - - // larger ints - primitives.add(new BCF2TypedValue(-32768, BCF2Type.INT32)); // first value in range - primitives.add(new BCF2TypedValue( 32768, BCF2Type.INT32)); // first value in range - primitives.add(new BCF2TypedValue(-100000, BCF2Type.INT32)); - primitives.add(new BCF2TypedValue(100000, BCF2Type.INT32)); - primitives.add(new BCF2TypedValue(-2147483647, BCF2Type.INT32)); - primitives.add(new BCF2TypedValue(2147483647, BCF2Type.INT32)); - - // floats - primitives.add(new BCF2TypedValue(0.0, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-0.0, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.0, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.0, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.1, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.1, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(5.0 / 3.0, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-5.0 / 3.0, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.23e3, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.23e6, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.23e9, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.23e12, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(1.23e15, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.23e3, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.23e6, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.23e9, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.23e12, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(-1.23e15, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(Float.MIN_VALUE, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(Float.MAX_VALUE, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(Double.NEGATIVE_INFINITY, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(Double.POSITIVE_INFINITY, BCF2Type.FLOAT)); - primitives.add(new BCF2TypedValue(Double.NaN, BCF2Type.FLOAT)); - - // strings - //primitives.add(new BCF2TypedValue("", BCFType.CHAR)); <- will be null (which is right) - primitives.add(new BCF2TypedValue("S", BCF2Type.CHAR)); - primitives.add(new BCF2TypedValue("S2", BCF2Type.CHAR)); - primitives.add(new BCF2TypedValue("12345678910", BCF2Type.CHAR)); - primitives.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); - primitives.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); - - // missing values - for ( BCF2Type type : BCF2Type.values() ) { - primitives.add(new BCF2TypedValue(null, type)); - } - - forCombinations.add(new BCF2TypedValue(10, BCF2Type.INT8)); - forCombinations.add(new BCF2TypedValue(100, BCF2Type.INT8)); - forCombinations.add(new BCF2TypedValue(-100, BCF2Type.INT8)); - forCombinations.add(new BCF2TypedValue(-128, BCF2Type.INT16)); // first value in range - forCombinations.add(new BCF2TypedValue( 128, BCF2Type.INT16)); // first value in range - forCombinations.add(new BCF2TypedValue(-100000, BCF2Type.INT32)); - forCombinations.add(new BCF2TypedValue(100000, BCF2Type.INT32)); - forCombinations.add(new BCF2TypedValue(0.0, BCF2Type.FLOAT)); - forCombinations.add(new BCF2TypedValue(1.23e6, BCF2Type.FLOAT)); - forCombinations.add(new BCF2TypedValue(-1.23e6, BCF2Type.FLOAT)); - forCombinations.add(new BCF2TypedValue("S", BCF2Type.CHAR)); - forCombinations.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); - forCombinations.add(new BCF2TypedValue("ABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZABCDEFGHIJKLMNOPQRSTUVWXYZ", BCF2Type.CHAR)); - - // missing values - for ( BCF2Type type : BCF2Type.values() ) { - forCombinations.add(new BCF2TypedValue(null, type)); - } - } - - // -------------------------------------------------------------------------------- - // - // merge case Provider - // - // -------------------------------------------------------------------------------- - - private class BCF2TypedValue { - final BCF2Type type; - final Object value; - - private BCF2TypedValue(final int value, final BCF2Type type) { - this(new Integer(value), type); - } - - private BCF2TypedValue(final double value, final BCF2Type type) { - this(new Double(value), type); - } - - private BCF2TypedValue(final Object value, final BCF2Type type) { - this.type = type; - this.value = value; - } - - public boolean isMissing() { return value == null; } - - @Override - public String toString() { - return String.format("%s of %s", value, type); - } - } - - // ----------------------------------------------------------------- - // - // Test encoding of basic types - // - // ----------------------------------------------------------------- - - @DataProvider(name = "BCF2EncodingTestProviderBasicTypes") - public Object[][] BCF2EncodingTestProviderBasicTypes() { - List tests = new ArrayList(); - for ( BCF2TypedValue tv : basicTypes ) - tests.add(new Object[]{Arrays.asList(tv)}); - return tests.toArray(new Object[][]{}); - } - - private interface EncodeMe { - public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException; - } - - - @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") - public void testBCF2BasicTypesWithStaticCalls(final List toEncode) throws IOException { - testBCF2BasicTypesWithEncodeMe(toEncode, - new EncodeMe() { - @Override - public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException { - switch ( tv.type ) { - case INT8: - case INT16: - case INT32: - encoder.encodeTypedInt((Integer)tv.value, tv.type); - break; - case FLOAT: - encoder.encodeTypedFloat((Double)tv.value); - break; - case CHAR: - encoder.encodeTypedString((String)tv.value); - break; - } - } - }); - } - - @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") - public void testBCF2BasicTypesWithObjectType(final List toEncode) throws IOException { - testBCF2BasicTypesWithEncodeMe(toEncode, - new EncodeMe() { - @Override - public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException { - encoder.encodeTyped(tv.value, tv.type); - } - }); - } - - @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") - public void testBCF2BasicTypesWithObjectNoType(final List toEncode) throws IOException { - testBCF2BasicTypesWithEncodeMe(toEncode, - new EncodeMe() { - @Override - public void encode(final BCF2Encoder encoder, final BCF2TypedValue tv) throws IOException { - encoder.encode(tv.value); - } - }); - } - - public void testBCF2BasicTypesWithEncodeMe(final List toEncode, final EncodeMe func) throws IOException { - for ( final BCF2TypedValue tv : toEncode ) { - BCF2Encoder encoder = new BCF2Encoder(); - func.encode(encoder, tv); - - BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); - final Object decoded = decoder.decodeTypedValue(); - - Assert.assertNotNull(decoded); - Assert.assertFalse(decoded instanceof List); - myAssertEquals(tv, decoded); - } - } - - @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") - public void testBCF2EncodingVectors(final List toEncode) throws IOException { - for ( final BCF2TypedValue tv : toEncode ) { - for ( final int length : Arrays.asList(2, 5, 10, 15, 20, 25) ) { - BCF2Encoder encoder = new BCF2Encoder(); - List expected = Collections.nCopies(length, tv.value); - encoder.encodeTyped(expected, tv.type); - - BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); - final Object decoded = decoder.decodeTypedValue(); - - Assert.assertTrue(decoded instanceof List); - final List decodedList = (List)decoded; - Assert.assertEquals(decodedList.size(), expected.size()); - for ( Object decodedValue : decodedList ) - myAssertEquals(tv, decodedValue); - } - } - } - - @DataProvider(name = "BCF2EncodingTestProviderSingletons") - public Object[][] BCF2EncodingTestProviderSingletons() { - List tests = new ArrayList(); - for ( BCF2TypedValue tv : primitives ) - tests.add(new Object[]{Arrays.asList(tv)}); - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "BCF2EncodingTestProviderSingletons") - public void testBCF2EncodingSingletons(final List toEncode) throws IOException { - final byte[] record = encodeRecord(toEncode); - decodeRecord(toEncode, record); - } - - // ----------------------------------------------------------------- - // - // Test encoding of vectors - // - // ----------------------------------------------------------------- - - @DataProvider(name = "BCF2EncodingTestProviderSequences") - public Object[][] BCF2EncodingTestProviderSequences() { - List tests = new ArrayList(); - for ( BCF2TypedValue tv1 : forCombinations ) - for ( BCF2TypedValue tv2 : forCombinations ) - for ( BCF2TypedValue tv3 : forCombinations ) - tests.add(new Object[]{Arrays.asList(tv1, tv2, tv3)}); - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "BCF2EncodingTestProviderBasicTypes") - public void testBCF2EncodingVectorsWithMissing(final List toEncode) throws IOException { - for ( final BCF2TypedValue tv : toEncode ) { - if ( tv.type != BCF2Type.CHAR ) { - for ( final int length : Arrays.asList(2, 5, 10, 15, 20, 25) ) { - final byte td = BCF2Utils.encodeTypeDescriptor(1, tv.type); - - final BCF2Encoder encoder = new BCF2Encoder(); - for ( int i = 0; i < length; i++ ) { - encoder.encodeRawValue(i % 2 == 0 ? null : tv.value, tv.type); - } - - final BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); - - for ( int i = 0; i < length; i++ ) { - final Object decoded = decoder.decodeTypedValue(td); - myAssertEquals(i % 2 == 0 ? new BCF2TypedValue(null, tv.type) : tv, decoded); - } - } - } - } - } - - @Test(dataProvider = "BCF2EncodingTestProviderSequences", dependsOnMethods = "testBCF2EncodingSingletons") - public void testBCF2EncodingTestProviderSequences(final List toEncode) throws IOException { - final byte[] record = encodeRecord(toEncode); - decodeRecord(toEncode, record); - } - - // ----------------------------------------------------------------- - // - // Test strings and lists of strings - // - // ----------------------------------------------------------------- - - @DataProvider(name = "ListOfStrings") - public Object[][] listOfStringsProvider() { - List tests = new ArrayList(); - tests.add(new Object[]{Arrays.asList("s1", "s2"), ",s1,s2"}); - tests.add(new Object[]{Arrays.asList("s1", "s2", "s3"), ",s1,s2,s3"}); - tests.add(new Object[]{Arrays.asList("s1", "s2", "s3", "s4"), ",s1,s2,s3,s4"}); - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "ListOfStrings") - public void testEncodingListOfString(List strings, String expected) throws IOException { - final String collapsed = BCF2Utils.collapseStringList(strings); - Assert.assertEquals(collapsed, expected); - Assert.assertEquals(BCF2Utils.explodeStringList(collapsed), strings); - } - - // ----------------------------------------------------------------- - // - // Tests to determine the best type of arrays of integers - // - // ----------------------------------------------------------------- - - @DataProvider(name = "BestIntTypeTests") - public Object[][] BestIntTypeTests() { - List tests = new ArrayList(); - tests.add(new Object[]{Arrays.asList(1), BCF2Type.INT8}); - tests.add(new Object[]{Arrays.asList(1, 10), BCF2Type.INT8}); - tests.add(new Object[]{Arrays.asList(1, 10, 100), BCF2Type.INT8}); - tests.add(new Object[]{Arrays.asList(1, -1), BCF2Type.INT8}); - tests.add(new Object[]{Arrays.asList(1, 1000), BCF2Type.INT16}); - tests.add(new Object[]{Arrays.asList(1, 1000, 10), BCF2Type.INT16}); - tests.add(new Object[]{Arrays.asList(1, 1000, 100), BCF2Type.INT16}); - tests.add(new Object[]{Arrays.asList(1000), BCF2Type.INT16}); - tests.add(new Object[]{Arrays.asList(100000), BCF2Type.INT32}); - tests.add(new Object[]{Arrays.asList(100000, 10), BCF2Type.INT32}); - tests.add(new Object[]{Arrays.asList(100000, 100), BCF2Type.INT32}); - tests.add(new Object[]{Arrays.asList(100000, 1, -10), BCF2Type.INT32}); - tests.add(new Object[]{Arrays.asList(-100000, 1, -10), BCF2Type.INT32}); - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "BestIntTypeTests") - public void determineBestEncoding(final List ints, final BCF2Type expectedType) throws IOException { - BCF2Encoder encoder = new BCF2Encoder(); - Assert.assertEquals(BCF2Utils.determineIntegerType(ints), expectedType); - Assert.assertEquals(BCF2Utils.determineIntegerType(ArrayUtils.toPrimitive(ints.toArray(new Integer[0]))), expectedType); - } - - // ----------------------------------------------------------------- - // - // Tests managing and skipping multiple blocks - // - // ----------------------------------------------------------------- - - @Test(dataProvider = "BCF2EncodingTestProviderSequences", dependsOnMethods = "testBCF2EncodingTestProviderSequences") - public void testReadAndSkipWithMultipleBlocks(final List block) throws IOException { - testReadAndSkipWithMultipleBlocks(block, forCombinations); - testReadAndSkipWithMultipleBlocks(forCombinations, block); - } - - public void testReadAndSkipWithMultipleBlocks(final List block1, final List block2) throws IOException { - final byte[] record1 = encodeRecord(block1); - final byte[] record2 = encodeRecord(block2); - - // each record is individually good - decodeRecord(block1, record1); - decodeRecord(block2, record2); - - BCF2Decoder decoder = new BCF2Decoder(); - - // test setting - decoder.setRecordBytes(record1); - decodeRecord(block1, decoder); - decoder.setRecordBytes(record2); - decodeRecord(block2, decoder); - - // test combining the streams - final byte[] combined = combineRecords(record1, record2); - final List combinedObjects = new ArrayList(block1); - combinedObjects.addAll(block2); - - // the combined bytes is the same as the combined objects - InputStream stream = new ByteArrayInputStream(combined); - decoder.readNextBlock(record1.length, stream); - decodeRecord(block1, decoder); - decoder.readNextBlock(record2.length, stream); - decodeRecord(block2, decoder); - - // skipping the first block allows us to read the second block directly - stream = new ByteArrayInputStream(combined); - decoder.skipNextBlock(record1.length, stream); - decoder.readNextBlock(record2.length, stream); - decodeRecord(block2, decoder); - } - - // ----------------------------------------------------------------- - // - // Test encoding / decoding arrays of ints - // - // This checks that we can encode and decode correctly with the - // low-level decodeIntArray function arrays of values. This - // has to be pretty comprehensive as decodeIntArray is a highly optimized - // piece of code with lots of edge cases. The values we are encoding - // don't really matter -- just that the values come back as expected. - // - // ----------------------------------------------------------------- - - @DataProvider(name = "IntArrays") - public Object[][] makeIntArrays() { - List tests = new ArrayList(); - - for ( int nValues : Arrays.asList(0, 1, 2, 5, 10, 100) ) { - for ( int nPad : Arrays.asList(0, 1, 2, 5, 10, 100) ) { - int nElements = nValues + nPad; - - List values = new ArrayList(nElements); - - // add nValues from 0 to nValues - 1 - for ( int i = 0; i < nValues; i++ ) - values.add(i); - - // add nPad nulls - for ( int i = 0; i < nPad; i++ ) - values.add(null); - - tests.add(new Object[]{values}); - } - } - - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "IntArrays") - public void testIntArrays(final List ints) throws IOException { - final BCF2Encoder encoder = new BCF2Encoder(); - encoder.encodeTyped(ints, BCF2Type.INT16); - - final BCF2Decoder decoder = new BCF2Decoder(encoder.getRecordBytes()); - - final byte typeDescriptor = decoder.readTypeDescriptor(); - - // read the int[] with the low-level version - final int size = decoder.decodeNumberOfElements(typeDescriptor); - final int[] decoded = decoder.decodeIntArray(typeDescriptor, size); - - if ( isMissing(ints) ) { - // we expect that the result is null in this case - Assert.assertNull(decoded, "Encoded all missing values -- expected null"); - } else { - // we expect at least some values to come back - Assert.assertTrue(decoded.length > 0, "Must have at least 1 element for non-null encoded data"); - - // check corresponding values - for ( int i = 0; i < ints.size(); i++ ) { - final Integer expected = ints.get(i); - - if ( expected == null ) { - Assert.assertTrue(decoded.length <= i, "we expect decoded to be truncated for missing values"); - } else { - Assert.assertTrue(decoded.length > i, "we expected at least " + i + " values in decoded array"); - Assert.assertEquals(decoded[i], (int)expected); - } - } - } - } - - // ----------------------------------------------------------------- - // - // Helper routines - // - // ----------------------------------------------------------------- - - private final byte[] combineRecords(final byte[] record1, final byte[] record2) throws IOException { - ByteArrayOutputStream baos = new ByteArrayOutputStream(); - baos.write(record1); - baos.write(record2); - return baos.toByteArray(); - } - - private final byte[] encodeRecord(final List toEncode) throws IOException { - BCF2Encoder encoder = new BCF2Encoder(); - - for ( final BCF2TypedValue tv : toEncode ) { - if ( tv.isMissing() ) - encoder.encodeTypedMissing(tv.type); - else { - final BCF2Type encodedType = encoder.encode(tv.value); - if ( tv.type != null ) // only if we have an expectation - Assert.assertEquals(encodedType, tv.type); - } - } - - // check output - final byte[] record = encoder.getRecordBytes(); - Assert.assertNotNull(record); - Assert.assertTrue(record.length > 0); - return record; - } - - private final void decodeRecord(final List toEncode, final byte[] record) throws IOException { - decodeRecord(toEncode, new BCF2Decoder(record)); - } - - private final void decodeRecord(final List toEncode, final BCF2Decoder decoder) throws IOException { - for ( final BCF2TypedValue tv : toEncode ) { - Assert.assertFalse(decoder.blockIsFullyDecoded()); - final Object decoded = decoder.decodeTypedValue(); - - myAssertEquals(tv, decoded); - } - - Assert.assertTrue(decoder.blockIsFullyDecoded()); - } - - private final void myAssertEquals(final BCF2TypedValue tv, final Object decoded) { - if ( tv.value == null ) { // special needs for instanceof double - Assert.assertEquals(decoded, tv.value); - } else if ( tv.type == BCF2Type.FLOAT ) { // need tolerance for floats, and they aren't null - Assert.assertTrue(decoded instanceof Double); - - final double valueFloat = (Double)tv.value; - final double decodedFloat = (Double)decoded; - - VariantBaseTest.assertEqualsDoubleSmart(decodedFloat, valueFloat, FLOAT_TOLERANCE); - } else - Assert.assertEquals(decoded, tv.value); - } - - private final boolean isMissing(final List values) { - if ( values != null ) - for ( Integer value : values ) - if ( value != null ) - return false; - return true; - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/bcf2/BCF2UtilsUnitTest.java b/public/java/test/org/broadinstitute/variant/bcf2/BCF2UtilsUnitTest.java deleted file mode 100644 index 5d01a458b..000000000 --- a/public/java/test/org/broadinstitute/variant/bcf2/BCF2UtilsUnitTest.java +++ /dev/null @@ -1,153 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.bcf2; - -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.*; - -import java.util.*; -import org.testng.Assert; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -/** - * Tests for BCF2Utils - */ -public final class BCF2UtilsUnitTest extends VariantBaseTest { - @DataProvider(name = "CollapseExpandTest") - public Object[][] makeCollapseExpandTest() { - List tests = new ArrayList(); - tests.add(new Object[]{Arrays.asList("A"), "A", false}); - tests.add(new Object[]{Arrays.asList("A", "B"), ",A,B", true}); - tests.add(new Object[]{Arrays.asList("AB"), "AB", false}); - tests.add(new Object[]{Arrays.asList("AB", "C"), ",AB,C", true}); - tests.add(new Object[]{Arrays.asList(), "", false}); - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "CollapseExpandTest") - public void testCollapseExpandTest(final List in, final String expectedCollapsed, final boolean isCollapsed) { - final String actualCollapsed = BCF2Utils.collapseStringList(in); - Assert.assertEquals(actualCollapsed, expectedCollapsed); - Assert.assertEquals(BCF2Utils.isCollapsedString(actualCollapsed), isCollapsed); - if ( isCollapsed ) - Assert.assertEquals(BCF2Utils.explodeStringList(actualCollapsed), in); - } - - @DataProvider(name = "HeaderOrderTestProvider") - public Object[][] makeHeaderOrderTestProvider() { - final List inputLines = new ArrayList(); - final List extraLines = new ArrayList(); - - int counter = 0; - inputLines.add(new VCFFilterHeaderLine(String.valueOf(counter++))); - inputLines.add(new VCFFilterHeaderLine(String.valueOf(counter++))); - inputLines.add(new VCFContigHeaderLine(Collections.singletonMap("ID", String.valueOf(counter++)), counter)); - inputLines.add(new VCFContigHeaderLine(Collections.singletonMap("ID", String.valueOf(counter++)), counter)); - inputLines.add(new VCFInfoHeaderLine(String.valueOf(counter++), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x")); - inputLines.add(new VCFInfoHeaderLine(String.valueOf(counter++), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x")); - inputLines.add(new VCFFormatHeaderLine(String.valueOf(counter++), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x")); - inputLines.add(new VCFFormatHeaderLine(String.valueOf(counter++), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x")); - final int inputLineCounter = counter; - final VCFHeader inputHeader = new VCFHeader(new LinkedHashSet(inputLines)); - - extraLines.add(new VCFFilterHeaderLine(String.valueOf(counter++))); - extraLines.add(new VCFContigHeaderLine(Collections.singletonMap("ID", String.valueOf(counter++)), counter)); - extraLines.add(new VCFInfoHeaderLine(String.valueOf(counter++), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x")); - extraLines.add(new VCFFormatHeaderLine(String.valueOf(counter++), VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x")); - extraLines.add(new VCFHeaderLine("x", "misc")); - extraLines.add(new VCFHeaderLine("y", "misc")); - - List tests = new ArrayList(); - for ( final int extrasToTake : Arrays.asList(0, 1, 2, 3) ) { - final List empty = Collections.emptyList(); - final List> permutations = extrasToTake == 0 - ? Collections.singletonList(empty) - : GeneralUtils.makePermutations(extraLines, extrasToTake, false); - for ( final List permutation : permutations ) { - for ( int i = -1; i < inputLines.size(); i++ ) { - final List allLines = new ArrayList(inputLines); - if ( i >= 0 ) - allLines.remove(i); - allLines.addAll(permutation); - final VCFHeader testHeader = new VCFHeader(new LinkedHashSet(allLines)); - final boolean expectedConsistent = expectedConsistent(testHeader, inputLineCounter); - tests.add(new Object[]{inputHeader, testHeader, expectedConsistent}); - } - } - } - - // sample name tests - final List> sampleNameTests = Arrays.asList( - new ArrayList(), - Arrays.asList("A"), - Arrays.asList("A", "B"), - Arrays.asList("A", "B", "C")); - for ( final List inSamples : sampleNameTests ) { - for ( final List testSamples : sampleNameTests ) { - final VCFHeader inputHeaderWithSamples = new VCFHeader(inputHeader.getMetaDataInInputOrder(), inSamples); - - final List> permutations = testSamples.isEmpty() - ? Collections.singletonList(testSamples) - : GeneralUtils.makePermutations(testSamples, testSamples.size(), false); - for ( final List testSamplesPermutation : permutations ) { - final VCFHeader testHeaderWithSamples = new VCFHeader(inputHeader.getMetaDataInInputOrder(), testSamplesPermutation); - final boolean expectedConsistent = testSamples.equals(inSamples); - tests.add(new Object[]{inputHeaderWithSamples, testHeaderWithSamples, expectedConsistent}); - } - } - } - - return tests.toArray(new Object[][]{}); - } - - private static boolean expectedConsistent(final VCFHeader combinationHeader, final int minCounterForInputLines) { - final List ids = new ArrayList(); - for ( final VCFHeaderLine line : combinationHeader.getMetaDataInInputOrder() ) { - if ( line instanceof VCFIDHeaderLine ) { - ids.add(Integer.valueOf(((VCFIDHeaderLine) line).getID())); - } - } - - // as long as the start contains all of the ids up to minCounterForInputLines in order - for ( int i = 0; i < minCounterForInputLines; i++ ) - if ( i >= ids.size() || ids.get(i) != i ) - return false; - - return true; - } - - // - // Test to make sure that we detect correctly the case where we can preserve the genotypes data in a BCF2 - // even when the header file is slightly different - // - @Test(dataProvider = "HeaderOrderTestProvider") - public void testHeaderOrder(final VCFHeader inputHeader, final VCFHeader testHeader, final boolean expectedConsistent) { - final boolean actualOrderConsistency = BCF2Utils.headerLinesAreOrderedConsistently(testHeader, inputHeader); - Assert.assertEquals(actualOrderConsistency, expectedConsistent); - } -} diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/AlleleUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/AlleleUnitTest.java deleted file mode 100644 index 7fa652f2f..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/AlleleUnitTest.java +++ /dev/null @@ -1,180 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -// the imports for unit testing. - -import org.broadinstitute.variant.VariantBaseTest; -import org.testng.Assert; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.Test; - -// public Allele(byte[] bases, boolean isRef) { -// public Allele(boolean isRef) { -// public Allele(String bases, boolean isRef) { -// public boolean isReference() { return isRef; } -// public boolean isNonReference() { return ! isReference(); } -// public byte[] getBases() { return bases; } -// public boolean equals(Allele other) { -// public int length() { - -/** - * Basic unit test for RecalData - */ -public class AlleleUnitTest extends VariantBaseTest { - Allele ARef, A, T, ATIns, ATCIns, NoCall; - - @BeforeSuite - public void before() { - A = Allele.create("A"); - ARef = Allele.create("A", true); - T = Allele.create("T"); - - ATIns = Allele.create("AT"); - ATCIns = Allele.create("ATC"); - - NoCall = Allele.create("."); - } - - @Test - public void testCreatingSNPAlleles() { - Assert.assertTrue(A.isNonReference()); - Assert.assertFalse(A.isReference()); - Assert.assertTrue(A.basesMatch("A")); - Assert.assertEquals(A.length(), 1); - - Assert.assertTrue(ARef.isReference()); - Assert.assertFalse(ARef.isNonReference()); - Assert.assertTrue(ARef.basesMatch("A")); - Assert.assertFalse(ARef.basesMatch("T")); - - Assert.assertTrue(T.isNonReference()); - Assert.assertFalse(T.isReference()); - Assert.assertTrue(T.basesMatch("T")); - Assert.assertFalse(T.basesMatch("A")); - } - - @Test - public void testCreatingNoCallAlleles() { - Assert.assertTrue(NoCall.isNonReference()); - Assert.assertFalse(NoCall.isReference()); - Assert.assertFalse(NoCall.basesMatch(".")); - Assert.assertEquals(NoCall.length(), 0); - Assert.assertTrue(NoCall.isNoCall()); - Assert.assertFalse(NoCall.isCalled()); - } - - - @Test - public void testCreatingIndelAlleles() { - Assert.assertEquals(ATIns.length(), 2); - Assert.assertEquals(ATCIns.length(), 3); - Assert.assertEquals(ATIns.getBases(), "AT".getBytes()); - Assert.assertEquals(ATCIns.getBases(), "ATC".getBytes()); - } - - - @Test - public void testConstructors1() { - Allele a1 = Allele.create("A"); - Allele a2 = Allele.create("A".getBytes()); - Allele a3 = Allele.create("A"); - Allele a4 = Allele.create("A", true); - - Assert.assertTrue(a1.equals(a2)); - Assert.assertTrue(a1.equals(a3)); - Assert.assertFalse(a1.equals(a4)); - } - - @Test - public void testInsConstructors() { - Allele a1 = Allele.create("AC"); - Allele a2 = Allele.create("AC".getBytes()); - Allele a3 = Allele.create("AC"); - Allele a4 = Allele.create("AC", true); - - Assert.assertTrue(a1.equals(a2)); - Assert.assertTrue(a1.equals(a3)); - Assert.assertFalse(a1.equals(a4)); - } - - @Test - public void testEquals() { - Assert.assertTrue(ARef.basesMatch(A)); - Assert.assertFalse(ARef.equals(A)); - Assert.assertFalse(ARef.equals(ATIns)); - Assert.assertFalse(ARef.equals(ATCIns)); - - Assert.assertTrue(T.basesMatch(T)); - Assert.assertFalse(T.basesMatch(A)); - Assert.assertFalse(T.equals(A)); - - Assert.assertTrue(ATIns.equals(ATIns)); - Assert.assertFalse(ATIns.equals(ATCIns)); - Assert.assertTrue(ATIns.basesMatch("AT")); - Assert.assertFalse(ATIns.basesMatch("A")); - Assert.assertFalse(ATIns.basesMatch("ATC")); - - Assert.assertTrue(ATIns.basesMatch("AT")); - Assert.assertFalse(ATIns.basesMatch("ATC")); - } - - @Test (expectedExceptions = IllegalArgumentException.class) - public void testBadConstructorArgs1() { - byte[] foo = null; - Allele.create(foo); - } - - @Test (expectedExceptions = IllegalArgumentException.class) - public void testBadConstructorArgs2() { - Allele.create("x"); - } - - @Test (expectedExceptions = IllegalArgumentException.class) - public void testBadConstructorArgs3() { - Allele.create("--"); - } - - @Test (expectedExceptions = IllegalArgumentException.class) - public void testBadConstructorArgs4() { - Allele.create("-A"); - } - - @Test (expectedExceptions = IllegalArgumentException.class) - public void testBadConstructorArgs5() { - Allele.create("A A"); - } - - @Test - public void testExtend() { - Assert.assertEquals("AT", Allele.extend(Allele.create("A"), "T".getBytes()).toString()); - Assert.assertEquals("ATA", Allele.extend(Allele.create("A"), "TA".getBytes()).toString()); - Assert.assertEquals("A", Allele.extend(Allele.NO_CALL, "A".getBytes()).toString()); - Assert.assertEquals("ATCGA", Allele.extend(Allele.create("AT"), "CGA".getBytes()).toString()); - Assert.assertEquals("ATCGA", Allele.extend(Allele.create("ATC"), "GA".getBytes()).toString()); - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/GenotypeLikelihoodsUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/GenotypeLikelihoodsUnitTest.java deleted file mode 100644 index 562130101..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/GenotypeLikelihoodsUnitTest.java +++ /dev/null @@ -1,203 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -// the imports for unit testing. - - -import org.broad.tribble.TribbleException; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.testng.Assert; -import org.testng.annotations.Test; - -import java.util.Arrays; -import java.util.EnumMap; -import java.util.List; - - -/** - * Basic unit test for Genotype likelihoods objects - */ -public class GenotypeLikelihoodsUnitTest extends VariantBaseTest { - double [] v = new double[]{-10.5, -1.25, -5.11}; - final static String vGLString = "-10.50,-1.25,-5.11"; - final static String vPLString = "93,0,39"; - double[] triAllelic = new double[]{-4.2,-2.0,-3.0,-1.6,0.0,-4.0}; //AA,AB,AC,BB,BC,CC - - @Test - public void testFromVector2() { - GenotypeLikelihoods gl = GenotypeLikelihoods.fromLog10Likelihoods(v); - assertDoubleArraysAreEqual(gl.getAsVector(), v); - Assert.assertEquals(gl.getAsString(), vPLString); - } - - @Test - public void testFromString1() { - GenotypeLikelihoods gl = GenotypeLikelihoods.fromPLField(vPLString); - assertDoubleArraysAreEqual(gl.getAsVector(), new double[]{-9.3, 0, -3.9}); - Assert.assertEquals(gl.getAsString(), vPLString); - } - - @Test - public void testFromString2() { - GenotypeLikelihoods gl = GenotypeLikelihoods.fromGLField(vGLString); - assertDoubleArraysAreEqual(gl.getAsVector(), v); - Assert.assertEquals(gl.getAsString(), vPLString); - } - - @Test (expectedExceptions = TribbleException.class) - public void testErrorBadFormat() { - GenotypeLikelihoods gl = GenotypeLikelihoods.fromPLField("adf,b,c"); - gl.getAsVector(); - } - - @Test - public void testGetAsMap(){ - GenotypeLikelihoods gl = GenotypeLikelihoods.fromLog10Likelihoods(v); - //Log scale - EnumMap glMap = gl.getAsMap(false); - Assert.assertEquals(v[GenotypeType.HOM_REF.ordinal()-1],glMap.get(GenotypeType.HOM_REF)); - Assert.assertEquals(v[GenotypeType.HET.ordinal()-1],glMap.get(GenotypeType.HET)); - Assert.assertEquals(v[GenotypeType.HOM_VAR.ordinal()-1],glMap.get(GenotypeType.HOM_VAR)); - - //Linear scale - glMap = gl.getAsMap(true); - double [] vl = GeneralUtils.normalizeFromLog10(v); - Assert.assertEquals(vl[GenotypeType.HOM_REF.ordinal()-1],glMap.get(GenotypeType.HOM_REF)); - Assert.assertEquals(vl[GenotypeType.HET.ordinal()-1],glMap.get(GenotypeType.HET)); - Assert.assertEquals(vl[GenotypeType.HOM_VAR.ordinal()-1],glMap.get(GenotypeType.HOM_VAR)); - - //Test missing likelihoods - gl = GenotypeLikelihoods.fromPLField("."); - glMap = gl.getAsMap(false); - Assert.assertNull(glMap); - - } - - @Test - public void testCalculateNumLikelihoods() { - - for (int nAlleles=2; nAlleles<=5; nAlleles++) - // simplest case: diploid - Assert.assertEquals(GenotypeLikelihoods.numLikelihoods(nAlleles, 2), nAlleles*(nAlleles+1)/2); - - // some special cases: ploidy = 20, #alleles = 4 - Assert.assertEquals(GenotypeLikelihoods.numLikelihoods(4, 20), 1771); - } - - @Test - public void testGetLog10GQ(){ - GenotypeLikelihoods gl = GenotypeLikelihoods.fromPLField(vPLString); - - //GQ for the best guess genotype - Assert.assertEquals(gl.getLog10GQ(GenotypeType.HET),-3.9); - - double[] test = GeneralUtils.normalizeFromLog10(gl.getAsVector()); - - //GQ for the other genotypes - Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_REF), Math.log10(1.0 - test[GenotypeType.HOM_REF.ordinal()-1])); - Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_VAR), Math.log10(1.0 - test[GenotypeType.HOM_VAR.ordinal()-1])); - - //Test missing likelihoods - gl = GenotypeLikelihoods.fromPLField("."); - Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_REF),Double.NEGATIVE_INFINITY); - Assert.assertEquals(gl.getLog10GQ(GenotypeType.HET),Double.NEGATIVE_INFINITY); - Assert.assertEquals(gl.getLog10GQ(GenotypeType.HOM_VAR),Double.NEGATIVE_INFINITY); - - } - - @Test - public void testgetQualFromLikelihoods() { - double[] likelihoods = new double[]{-1, 0, -2}; - // qual values we expect for each possible "best" genotype - double[] expectedQuals = new double[]{-0.04100161, -1, -0.003930294}; - - for ( int i = 0; i < likelihoods.length; i++ ) { - Assert.assertEquals(GenotypeLikelihoods.getGQLog10FromLikelihoods(i, likelihoods), expectedQuals[i], 1e-6, - "GQ value for genotype " + i + " was not calculated correctly"); - } - } - - // this test is completely broken, the method is wrong. - public void testGetQualFromLikelihoodsMultiAllelicBroken() { - GenotypeLikelihoods gl = GenotypeLikelihoods.fromLog10Likelihoods(triAllelic); - double actualGQ = gl.getLog10GQ(GenotypeType.HET); - double expectedGQ = 1.6; - Assert.assertEquals(actualGQ,expectedGQ); - } - - public void testGetQualFromLikelihoodsMultiAllelic() { - GenotypeLikelihoods gl = GenotypeLikelihoods.fromLog10Likelihoods(triAllelic); - Allele ref = Allele.create((byte)'A',true); - Allele alt1 = Allele.create((byte)'C'); - Allele alt2 = Allele.create((byte)'T'); - List allAlleles = Arrays.asList(ref,alt1,alt2); - List gtAlleles = Arrays.asList(alt1,alt2); - GenotypeBuilder gtBuilder = new GenotypeBuilder(); - gtBuilder.alleles(gtAlleles); - double actualGQ = gl.getLog10GQ(gtBuilder.make(),allAlleles); - double expectedGQ = 1.6; - Assert.assertEquals(actualGQ,expectedGQ); - } - - private void assertDoubleArraysAreEqual(double[] v1, double[] v2) { - Assert.assertEquals(v1.length, v2.length); - for ( int i = 0; i < v1.length; i++ ) { - Assert.assertEquals(v1[i], v2[i], 1e-6); - } - } - - @Test - public void testCalculatePLindex(){ - int counter = 0; - for ( int i = 0; i <= 3; i++ ) { - for ( int j = i; j <= 3; j++ ) { - Assert.assertEquals(GenotypeLikelihoods.calculatePLindex(i, j), GenotypeLikelihoods.PLindexConversion[counter++], "PL index of alleles " + i + "," + j + " was not calculated correctly"); - } - } - } - - @Test - public void testGetAllelePair(){ - allelePairTest(0, 0, 0); - allelePairTest(1, 0, 1); - allelePairTest(2, 1, 1); - allelePairTest(3, 0, 2); - allelePairTest(4, 1, 2); - allelePairTest(5, 2, 2); - allelePairTest(6, 0, 3); - allelePairTest(7, 1, 3); - allelePairTest(8, 2, 3); - allelePairTest(9, 3, 3); - } - - private void allelePairTest(int PLindex, int allele1, int allele2) { - Assert.assertEquals(GenotypeLikelihoods.getAllelePair(PLindex).alleleIndex1, allele1, "allele index " + allele1 + " from PL index " + PLindex + " was not calculated correctly"); - Assert.assertEquals(GenotypeLikelihoods.getAllelePair(PLindex).alleleIndex2, allele2, "allele index " + allele2 + " from PL index " + PLindex + " was not calculated correctly"); - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/GenotypeUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/GenotypeUnitTest.java deleted file mode 100644 index 8d0d2af90..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/GenotypeUnitTest.java +++ /dev/null @@ -1,101 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -// the imports for unit testing. - - -import org.broadinstitute.variant.VariantBaseTest; -import org.testng.Assert; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.Test; - - -public class GenotypeUnitTest extends VariantBaseTest { - Allele A, Aref, T; - - @BeforeSuite - public void before() { - A = Allele.create("A"); - Aref = Allele.create("A", true); - T = Allele.create("T"); - } - - private static final GenotypeBuilder makeGB() { - return new GenotypeBuilder("misc"); - } - - @Test - public void testFilters() { - Assert.assertFalse(makeGB().make().isFiltered(), "by default Genotypes must be PASS"); - Assert.assertNull(makeGB().make().getFilters(), "by default Genotypes must be PASS => getFilters() == null"); - Assert.assertFalse(makeGB().filter(null).make().isFiltered(), "setting filter == null => Genotypes must be PASS"); - Assert.assertNull(makeGB().filter(null).make().getFilters(), "Genotypes PASS => getFilters == null"); - Assert.assertFalse(makeGB().filter("PASS").make().isFiltered(), "setting filter == PASS => Genotypes must be PASS"); - Assert.assertNull(makeGB().filter("PASS").make().getFilters(), "Genotypes PASS => getFilters == null"); - Assert.assertTrue(makeGB().filter("x").make().isFiltered(), "setting filter != null => Genotypes must be PASS"); - Assert.assertEquals(makeGB().filter("x").make().getFilters(), "x", "Should get back the expected filter string"); - Assert.assertEquals(makeGB().filters("x", "y").make().getFilters(), "x;y", "Multiple filter field values should be joined with ;"); - Assert.assertEquals(makeGB().filters("x", "y", "z").make().getFilters(), "x;y;z", "Multiple filter field values should be joined with ;"); - Assert.assertTrue(makeGB().filters("x", "y", "z").make().isFiltered(), "Multiple filter values should be filtered"); - Assert.assertEquals(makeGB().filter("x;y;z").make().getFilters(), "x;y;z", "Multiple filter field values should be joined with ;"); - } - -// public Genotype(String sampleName, List alleles, double negLog10PError, Set filters, Map attributes, boolean isPhased) { -// public Genotype(String sampleName, List alleles, double negLog10PError, Set filters, Map attributes, boolean isPhased, double[] log10Likelihoods) { -// public Genotype(String sampleName, List alleles, double negLog10PError, double[] log10Likelihoods) -// public Genotype(String sampleName, List alleles, double negLog10PError) -// public Genotype(String sampleName, List alleles) -// public List getAlleles() -// public List getAlleles(Allele allele) -// public Allele getAllele(int i) -// public boolean isPhased() -// public int getPloidy() -// public Type getType() -// public boolean isHom() -// public boolean isHomRef() -// public boolean isHomVar() -// public boolean isHet() -// public boolean isNoCall() -// public boolean isCalled() -// public boolean isAvailable() -// public boolean hasLikelihoods() -// public GenotypeLikelihoods getLikelihoods() -// public boolean sameGenotype(Genotype other) -// public boolean sameGenotype(Genotype other, boolean ignorePhase) -// public String getSampleName() -// public boolean hasLog10PError() -// public double getLog10PError() -// public double getPhredScaledQual() -// public boolean hasExtendedAttribute(String key) -// public Object getExtendedAttribute(String key) -// public Object getExtendedAttribute(String key, Object defaultValue) -// public String getAttributeAsString(String key, String defaultValue) -// public int getAttributeAsInt(String key, int defaultValue) -// public double getAttributeAsDouble(String key, double defaultValue) -// public boolean getAttributeAsBoolean(String key, boolean defaultValue) -} diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/GenotypesContextUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/GenotypesContextUnitTest.java deleted file mode 100644 index 1618ad1f2..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/GenotypesContextUnitTest.java +++ /dev/null @@ -1,309 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -// the imports for unit testing. - - -import org.broad.tribble.util.ParsingUtils; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.testng.Assert; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.util.*; - - -public class GenotypesContextUnitTest extends VariantBaseTest { - Allele Aref, C, T; - Genotype AA, AT, TT, AC, CT, CC, MISSING; - List allGenotypes; - - @BeforeSuite - public void before() { - C = Allele.create("C"); - Aref = Allele.create("A", true); - T = Allele.create("T"); - AA = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - AT = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - TT = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - AC = GenotypeBuilder.create("AC", Arrays.asList(Aref, C)); - CT = GenotypeBuilder.create("CT", Arrays.asList(C, T)); - CC = GenotypeBuilder.create("CC", Arrays.asList(C, C)); - MISSING = GenotypeBuilder.create("MISSING", Arrays.asList(C, C)); - - allGenotypes = Arrays.asList(AA, AT, TT, AC, CT, CC); - } - - // -------------------------------------------------------------------------------- - // - // Provider - // - // -------------------------------------------------------------------------------- - - private interface ContextMaker { - public GenotypesContext make(List initialSamples); - } - - private ContextMaker baseMaker = new ContextMaker() { - @Override - public GenotypesContext make(final List initialSamples) { - return GenotypesContext.copy(initialSamples); - } - - @Override - public String toString() { - return "GenotypesContext"; - } - }; - - private final class lazyMaker implements LazyGenotypesContext.LazyParser, ContextMaker { - @Override - public LazyGenotypesContext.LazyData parse(final Object data) { - GenotypesContext gc = GenotypesContext.copy((List)data); - gc.ensureSampleNameMap(); - gc.ensureSampleOrdering(); - return new LazyGenotypesContext.LazyData(gc.notToBeDirectlyAccessedGenotypes, gc.sampleNamesInOrder, gc.sampleNameToOffset); - } - - @Override - public GenotypesContext make(final List initialSamples) { - return new LazyGenotypesContext(this, initialSamples, initialSamples.size()); - } - - @Override - public String toString() { - return "LazyGenotypesContext"; - } - } - - private Collection allMakers = Arrays.asList(baseMaker, new lazyMaker()); - - private class GenotypesContextProvider extends TestDataProvider { - ContextMaker maker; - final List initialSamples; - - private GenotypesContextProvider(ContextMaker maker, List initialSamples) { - super(GenotypesContextProvider.class, String.format("%s with %d samples", maker.toString(), initialSamples.size())); - this.maker = maker; - this.initialSamples = initialSamples; - } - - public GenotypesContext makeContext() { - return maker.make(initialSamples); - } - } - - @DataProvider(name = "GenotypesContextProvider") - public Object[][] MakeSampleNamesTest() { - for ( ContextMaker maker : allMakers ) { - for ( int i = 0; i < allGenotypes.size(); i++ ) { - List samples = allGenotypes.subList(0, i); - // sorted - new GenotypesContextProvider(maker, samples); - // unsorted - new GenotypesContextProvider(maker, GeneralUtils.reverse(samples)); - } - } - - return GenotypesContextProvider.getTests(GenotypesContextProvider.class); - } - - private final static void testIterable(Iterable genotypeIterable, Set expectedNames) { - int count = 0; - for ( final Genotype g : genotypeIterable ) { - Assert.assertTrue(expectedNames.contains(g.getSampleName())); - count++; - } - Assert.assertEquals(count, expectedNames.size(), "Iterable returned unexpected number of genotypes"); - } - - @Test(dataProvider = "GenotypesContextProvider") - public void testInitialSamplesAreAsExpected(GenotypesContextProvider cfg) { - testGenotypesContextContainsExpectedSamples(cfg.makeContext(), cfg.initialSamples); - } - - private final void testGenotypesContextContainsExpectedSamples(GenotypesContext gc, List expectedSamples) { - Assert.assertEquals(gc.isEmpty(), expectedSamples.isEmpty()); - Assert.assertEquals(gc.size(), expectedSamples.size()); - - // get(index) is doing the right thing - for ( int i = 0; i < expectedSamples.size(); i++ ) { - Assert.assertEquals(gc.get(i), expectedSamples.get(i)); - } - Assert.assertFalse(gc.containsSample(MISSING.getSampleName())); - - // we can fetch samples by name - final Set genotypeNames = VariantContextUtils.genotypeNames(expectedSamples); - for ( final String name : genotypeNames ) { - Assert.assertTrue(gc.containsSample(name)); - } - Assert.assertFalse(gc.containsSample(MISSING.getSampleName())); - - // all of the iterators are working - testIterable(gc.iterateInSampleNameOrder(), genotypeNames); - testIterable(gc, genotypeNames); - testIterable(gc.iterateInSampleNameOrder(genotypeNames), genotypeNames); - if ( ! genotypeNames.isEmpty() ) { - Set first = Collections.singleton(genotypeNames.iterator().next()); - testIterable(gc.iterateInSampleNameOrder(first), first); - } - - // misc. utils are working as expected - Assert.assertEquals(gc.getSampleNames(), genotypeNames); - Assert.assertTrue(ParsingUtils.isSorted(gc.getSampleNamesOrderedByName())); - Assert.assertTrue(ParsingUtils.isSorted(gc.iterateInSampleNameOrder())); - Assert.assertTrue(gc.containsSamples(genotypeNames)); - - final Set withMissing = new HashSet(Arrays.asList(MISSING.getSampleName())); - withMissing.addAll(genotypeNames); - Assert.assertFalse(gc.containsSamples(withMissing)); - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider") - public void testImmutable(GenotypesContextProvider cfg) { - GenotypesContext gc = cfg.makeContext(); - Assert.assertEquals(gc.isMutable(), true); - gc.immutable(); - Assert.assertEquals(gc.isMutable(), false); - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider", expectedExceptions = Throwable.class ) - public void testImmutableCall1(GenotypesContextProvider cfg) { - GenotypesContext gc = cfg.makeContext(); - gc.immutable(); - gc.add(MISSING); - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider") - public void testClear(GenotypesContextProvider cfg) { - GenotypesContext gc = cfg.makeContext(); - gc.clear(); - testGenotypesContextContainsExpectedSamples(gc, Collections.emptyList()); - } - - private static final List with(List genotypes, Genotype ... add) { - List l = new ArrayList(genotypes); - l.addAll(Arrays.asList(add)); - return l; - } - - private static final List without(List genotypes, Genotype ... remove) { - List l = new ArrayList(genotypes); - l.removeAll(Arrays.asList(remove)); - return l; - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider") - public void testAdds(GenotypesContextProvider cfg) { - Genotype add1 = GenotypeBuilder.create("add1", Arrays.asList(Aref, Aref)); - Genotype add2 = GenotypeBuilder.create("add2", Arrays.asList(Aref, Aref)); - - GenotypesContext gc = cfg.makeContext(); - gc.add(add1); - testGenotypesContextContainsExpectedSamples(gc, with(cfg.initialSamples, add1)); - - gc = cfg.makeContext(); - gc.add(add1); - gc.add(add2); - testGenotypesContextContainsExpectedSamples(gc, with(cfg.initialSamples, add1, add2)); - - gc = cfg.makeContext(); - gc.addAll(Arrays.asList(add1, add2)); - testGenotypesContextContainsExpectedSamples(gc, with(cfg.initialSamples, add1, add2)); - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider") - public void testRemoves(GenotypesContextProvider cfg) { - Genotype rm1 = AA; - Genotype rm2 = AC; - - GenotypesContext gc = cfg.makeContext(); - if (gc.size() > 1) { - Genotype rm = gc.get(0); - gc.remove(rm); - testGenotypesContextContainsExpectedSamples(gc, without(cfg.initialSamples, rm)); - } - - gc = cfg.makeContext(); - gc.remove(rm1); - testGenotypesContextContainsExpectedSamples(gc, without(cfg.initialSamples, rm1)); - - gc = cfg.makeContext(); - gc.remove(rm1); - gc.remove(rm2); - testGenotypesContextContainsExpectedSamples(gc, without(cfg.initialSamples, rm1, rm2)); - - gc = cfg.makeContext(); - gc.removeAll(Arrays.asList(rm1, rm2)); - testGenotypesContextContainsExpectedSamples(gc, without(cfg.initialSamples, rm1, rm2)); - - gc = cfg.makeContext(); - HashSet expected = new HashSet(); - if ( gc.contains(rm1) ) expected.add(rm1); - if ( gc.contains(rm2) ) expected.add(rm2); - gc.retainAll(Arrays.asList(rm1, rm2)); - - // ensure that the two lists are the same - Assert.assertEquals(new HashSet(gc.getGenotypes()), expected); - // because the list order can change, we use the gc's list itself - testGenotypesContextContainsExpectedSamples(gc, gc.getGenotypes()); - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider") - public void testSet(GenotypesContextProvider cfg) { - Genotype set = GenotypeBuilder.create("replace", Arrays.asList(Aref, Aref)); - int n = cfg.makeContext().size(); - for ( int i = 0; i < n; i++ ) { - GenotypesContext gc = cfg.makeContext(); - Genotype setted = gc.set(i, set); - Assert.assertNotNull(setted); - ArrayList l = new ArrayList(cfg.initialSamples); - l.set(i, set); - testGenotypesContextContainsExpectedSamples(gc, l); - } - } - - @Test(enabled = true, dataProvider = "GenotypesContextProvider") - public void testReplace(GenotypesContextProvider cfg) { - int n = cfg.makeContext().size(); - for ( int i = 0; i < n; i++ ) { - GenotypesContext gc = cfg.makeContext(); - Genotype toReplace = gc.get(i); - Genotype replacement = GenotypeBuilder.create(toReplace.getSampleName(), Arrays.asList(Aref, Aref)); - gc.replace(replacement); - ArrayList l = new ArrayList(cfg.initialSamples); - l.set(i, replacement); - Assert.assertEquals(replacement, gc.get(i)); - testGenotypesContextContainsExpectedSamples(gc, l); - } - } - - // subset to samples tested in VariantContextUnitTest -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/VariantContextTestProvider.java b/public/java/test/org/broadinstitute/variant/variantcontext/VariantContextTestProvider.java deleted file mode 100644 index 4c948e8e2..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/VariantContextTestProvider.java +++ /dev/null @@ -1,974 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import org.broad.tribble.FeatureCodec; -import org.broad.tribble.FeatureCodecHeader; -import org.broad.tribble.readers.PositionalBufferedStream; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.bcf2.BCF2Codec; -import org.broadinstitute.variant.utils.GeneralUtils; -import org.broadinstitute.variant.vcf.*; -import org.broadinstitute.variant.variantcontext.writer.Options; -import org.broadinstitute.variant.variantcontext.writer.VariantContextWriter; -import org.testng.Assert; - -import java.io.File; -import java.io.FileInputStream; -import java.io.IOException; -import java.util.*; - -/** - * Routines for generating all sorts of VCs for testing - * - * @author Your Name - * @since Date created - */ -public class VariantContextTestProvider { - final private static boolean ENABLE_GENOTYPE_TESTS = true; - final private static boolean ENABLE_A_AND_G_TESTS = true; - final private static boolean ENABLE_VARARRAY_TESTS = true; - final private static boolean ENABLE_PLOIDY_TESTS = true; - final private static boolean ENABLE_PL_TESTS = true; - final private static boolean ENABLE_SYMBOLIC_ALLELE_TESTS = true; - final private static boolean ENABLE_SOURCE_VCF_TESTS = true; - final private static boolean ENABLE_VARIABLE_LENGTH_GENOTYPE_STRING_TESTS = true; - final private static List TWENTY_INTS = Arrays.asList(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20); - - private static VCFHeader syntheticHeader; - final static List TEST_DATAs = new ArrayList(); - private static VariantContext ROOT; - - private final static List testSourceVCFs = new ArrayList(); - static { - testSourceVCFs.add(new File(VariantBaseTest.variantTestDataRoot + "ILLUMINA.wex.broad_phase2_baseline.20111114.both.exome.genotypes.1000.vcf")); - testSourceVCFs.add(new File(VariantBaseTest.variantTestDataRoot + "ex2.vcf")); - testSourceVCFs.add(new File(VariantBaseTest.variantTestDataRoot + "dbsnp_135.b37.1000.vcf")); - if ( ENABLE_SYMBOLIC_ALLELE_TESTS ) { - testSourceVCFs.add(new File(VariantBaseTest.variantTestDataRoot + "diagnosis_targets_testfile.vcf")); - testSourceVCFs.add(new File(VariantBaseTest.variantTestDataRoot + "VQSR.mixedTest.recal")); - } - } - - public static class VariantContextContainer { - private VCFHeader header; - private Iterable vcs; - - public VariantContextContainer( VCFHeader header, Iterable vcs ) { - this.header = header; - this.vcs = vcs; - } - - public VCFHeader getHeader() { - return header; - } - - public Iterable getVCs() { - return vcs; - } - } - - public abstract static class VariantContextIOTest { - public String toString() { - return "VariantContextIOTest:" + getExtension(); - } - public abstract String getExtension(); - public abstract FeatureCodec makeCodec(); - public abstract VariantContextWriter makeWriter(final File outputFile, final EnumSet baseOptions); - - public List preprocess(final VCFHeader header, List vcsBeforeIO) { - return vcsBeforeIO; - } - - public List postprocess(final VCFHeader header, List vcsAfterIO) { - return vcsAfterIO; - } - } - - public static class VariantContextTestData { - public final VCFHeader header; - public List vcs; - - public VariantContextTestData(final VCFHeader header, final VariantContextBuilder builder) { - this(header, Collections.singletonList(builder.fullyDecoded(true).make())); - } - - public VariantContextTestData(final VCFHeader header, final List vcs) { - final Set samples = new HashSet(); - for ( final VariantContext vc : vcs ) - if ( vc.hasGenotypes() ) - samples.addAll(vc.getSampleNames()); - this.header = samples.isEmpty() ? header : new VCFHeader(header.getMetaDataInSortedOrder(), samples); - this.vcs = vcs; - } - - public boolean hasGenotypes() { - return vcs.get(0).hasGenotypes(); - } - - public String toString() { - StringBuilder b = new StringBuilder(); - b.append("VariantContextTestData: ["); - final VariantContext vc = vcs.get(0); - final VariantContextBuilder builder = new VariantContextBuilder(vc); - builder.noGenotypes(); - b.append(builder.make().toString()); - if ( vc.getNSamples() < 5 ) { - for ( final Genotype g : vc.getGenotypes() ) - b.append(g.toString()); - } else { - b.append(" nGenotypes = ").append(vc.getNSamples()); - } - - if ( vcs.size() > 1 ) b.append(" ----- with another ").append(vcs.size() - 1).append(" VariantContext records"); - b.append("]"); - return b.toString(); - } - } - - private final static VariantContextBuilder builder() { - return new VariantContextBuilder(ROOT); - } - - private final static void add(VariantContextBuilder builder) { - TEST_DATAs.add(new VariantContextTestData(syntheticHeader, builder)); - } - - public static void initializeTests() throws IOException { - createSyntheticHeader(); - makeSyntheticTests(); - makeEmpiricalTests(); - } - - private static void makeEmpiricalTests() throws IOException { - if ( ENABLE_SOURCE_VCF_TESTS ) { - for ( final File file : testSourceVCFs ) { - VCFCodec codec = new VCFCodec(); - VariantContextContainer x = readAllVCs( file, codec ); - List fullyDecoded = new ArrayList(); - - for ( final VariantContext raw : x.getVCs() ) { - if ( raw != null ) - fullyDecoded.add(raw.fullyDecode(x.getHeader(), false)); - } - - TEST_DATAs.add(new VariantContextTestData(x.getHeader(), fullyDecoded)); - } - } - } - - private final static void addHeaderLine(final Set metaData, final String id, final int count, final VCFHeaderLineType type) { - metaData.add(new VCFInfoHeaderLine(id, count, type, "x")); - if ( type != VCFHeaderLineType.Flag ) - metaData.add(new VCFFormatHeaderLine(id, count, type, "x")); - } - - private final static void addHeaderLine(final Set metaData, final String id, final VCFHeaderLineCount count, final VCFHeaderLineType type) { - metaData.add(new VCFInfoHeaderLine(id, count, type, "x")); - if ( type != VCFHeaderLineType.Flag ) - metaData.add(new VCFFormatHeaderLine(id, count, type, "x")); - } - - private static void createSyntheticHeader() { - Set metaData = new TreeSet(); - - addHeaderLine(metaData, "STRING1", 1, VCFHeaderLineType.String); - addHeaderLine(metaData, "END", 1, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "STRING3", 3, VCFHeaderLineType.String); - addHeaderLine(metaData, "STRING20", 20, VCFHeaderLineType.String); - addHeaderLine(metaData, "VAR.INFO.STRING", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String); - - addHeaderLine(metaData, "GT", 1, VCFHeaderLineType.String); - addHeaderLine(metaData, "GQ", 1, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "ADA", VCFHeaderLineCount.A, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "PL", VCFHeaderLineCount.G, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "GS", 2, VCFHeaderLineType.String); - addHeaderLine(metaData, "GV", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String); - addHeaderLine(metaData, "FT", 1, VCFHeaderLineType.String); - - // prep the header - metaData.add(new VCFContigHeaderLine(Collections.singletonMap("ID", "1"), 0)); - - metaData.add(new VCFFilterHeaderLine("FILTER1")); - metaData.add(new VCFFilterHeaderLine("FILTER2")); - - addHeaderLine(metaData, "INT1", 1, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "INT3", 3, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "INT20", 20, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "INT.VAR", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer); - addHeaderLine(metaData, "FLOAT1", 1, VCFHeaderLineType.Float); - addHeaderLine(metaData, "FLOAT3", 3, VCFHeaderLineType.Float); - addHeaderLine(metaData, "FLAG", 0, VCFHeaderLineType.Flag); - - syntheticHeader = new VCFHeader(metaData); - } - - - private static void makeSyntheticTests() { - VariantContextBuilder rootBuilder = new VariantContextBuilder(); - rootBuilder.source("test"); - rootBuilder.loc("1", 10, 10); - rootBuilder.alleles("A", "C"); - rootBuilder.unfiltered(); - ROOT = rootBuilder.make(); - - add(builder()); - add(builder().alleles("A")); - add(builder().alleles("A", "C", "T")); - add(builder().alleles("A", "AC")); - add(builder().alleles("A", "ACAGT")); - add(builder().loc("1", 10, 11).alleles("AC", "A")); - add(builder().loc("1", 10, 13).alleles("ACGT", "A")); - - // make sure filters work - add(builder().unfiltered()); - add(builder().passFilters()); - add(builder().filters("FILTER1")); - add(builder().filters("FILTER1", "FILTER2")); - - add(builder().log10PError(VariantContext.NO_LOG10_PERROR)); - add(builder().log10PError(-1)); - add(builder().log10PError(-1.234e6)); - - add(builder().noID()); - add(builder().id("rsID12345")); - - - add(builder().attribute("INT1", 1)); - add(builder().attribute("INT1", 100)); - add(builder().attribute("INT1", 1000)); - add(builder().attribute("INT1", 100000)); - add(builder().attribute("INT1", null)); - add(builder().attribute("INT3", Arrays.asList(1, 2, 3))); - add(builder().attribute("INT3", Arrays.asList(1000, 2000, 3000))); - add(builder().attribute("INT3", Arrays.asList(100000, 200000, 300000))); - add(builder().attribute("INT3", null)); - add(builder().attribute("INT20", TWENTY_INTS)); - - add(builder().attribute("FLOAT1", 1.0)); - add(builder().attribute("FLOAT1", 100.0)); - add(builder().attribute("FLOAT1", 1000.0)); - add(builder().attribute("FLOAT1", 100000.0)); - add(builder().attribute("FLOAT1", null)); - add(builder().attribute("FLOAT3", Arrays.asList(1.0, 2.0, 3.0))); - add(builder().attribute("FLOAT3", Arrays.asList(1000.0, 2000.0, 3000.0))); - add(builder().attribute("FLOAT3", Arrays.asList(100000.0, 200000.0, 300000.0))); - add(builder().attribute("FLOAT3", null)); - - add(builder().attribute("FLAG", true)); - //add(builder().attribute("FLAG", false)); // NOTE -- VCF doesn't allow false flags - - add(builder().attribute("STRING1", "s1")); - add(builder().attribute("STRING1", null)); - add(builder().attribute("STRING3", Arrays.asList("s1", "s2", "s3"))); - add(builder().attribute("STRING3", null)); - add(builder().attribute("STRING20", Arrays.asList("s1", "s2", "s3", "s4", "s5", "s6", "s7", "s8", "s9", "s10", "s11", "s12", "s13", "s14", "s15", "s16", "s17", "s18", "s19", "s20"))); - - add(builder().attribute("VAR.INFO.STRING", "s1")); - add(builder().attribute("VAR.INFO.STRING", Arrays.asList("s1", "s2"))); - add(builder().attribute("VAR.INFO.STRING", Arrays.asList("s1", "s2", "s3"))); - add(builder().attribute("VAR.INFO.STRING", null)); - - if ( ENABLE_GENOTYPE_TESTS ) { - addGenotypesToTestData(); - addComplexGenotypesTest(); - } - - if ( ENABLE_A_AND_G_TESTS ) - addGenotypesAndGTests(); - - if ( ENABLE_SYMBOLIC_ALLELE_TESTS ) - addSymbolicAlleleTests(); - } - - private static void addSymbolicAlleleTests() { - // two tests to ensure that the end is computed correctly when there's (and not) an END field present - add(builder().alleles("N", "").start(10).stop(11).attribute("END", 11)); - add(builder().alleles("N", "").start(10).stop(10)); - } - - private static void addGenotypesToTestData() { - final ArrayList sites = new ArrayList(); - - sites.add(builder().alleles("A").make()); - sites.add(builder().alleles("A", "C", "T").make()); - sites.add(builder().alleles("A", "AC").make()); - sites.add(builder().alleles("A", "ACAGT").make()); - - for ( VariantContext site : sites ) { - addGenotypes(site); - } - } - - private static void addGenotypeTests( final VariantContext site, Genotype ... genotypes ) { - // for each sites VC, we are going to add create two root genotypes. - // The first is the primary, and will be added to each new test - // The second is variable. In some tests it's absent (testing 1 genotype), in others it is duplicated - // 1 once, 10, 100, or 1000 times to test scaling - - final VariantContextBuilder builder = new VariantContextBuilder(site); - - // add a single context - builder.genotypes(genotypes[0]); - add(builder); - - if ( genotypes.length > 1 ) { - // add all - add(builder.genotypes(Arrays.asList(genotypes))); - - // add all with the last replicated 10x and 100x times - for ( int nCopiesOfLast : Arrays.asList(10, 100, 1000) ) { - final GenotypesContext gc = new GenotypesContext(); - final Genotype last = genotypes[genotypes.length-1]; - for ( int i = 0; i < genotypes.length - 1; i++ ) - gc.add(genotypes[i]); - for ( int i = 0; i < nCopiesOfLast; i++ ) - gc.add(new GenotypeBuilder(last).name("copy" + i).make()); - add(builder.genotypes(gc)); - } - } - } - - private static void addGenotypes( final VariantContext site) { - // test ref/ref - final Allele ref = site.getReference(); - final Allele alt1 = site.getNAlleles() > 1 ? site.getAlternateAllele(0) : null; - final Genotype homRef = GenotypeBuilder.create("homRef", Arrays.asList(ref, ref)); - addGenotypeTests(site, homRef); - - if ( alt1 != null ) { - final Genotype het = GenotypeBuilder.create("het", Arrays.asList(ref, alt1)); - final Genotype homVar = GenotypeBuilder.create("homVar", Arrays.asList(alt1, alt1)); - addGenotypeTests(site, homRef, het); - addGenotypeTests(site, homRef, het, homVar); - - // test no GT at all - addGenotypeTests(site, new GenotypeBuilder("noGT", new ArrayList(0)).attribute("INT1", 10).make()); - - final List noCall = Arrays.asList(Allele.NO_CALL, Allele.NO_CALL); - - // ploidy - if ( ENABLE_PLOIDY_TESTS ) { - addGenotypeTests(site, - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("hap", Arrays.asList(ref))); - - addGenotypeTests(site, - GenotypeBuilder.create("noCall", noCall), - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("hap", Arrays.asList(ref))); - - addGenotypeTests(site, - GenotypeBuilder.create("noCall", noCall), - GenotypeBuilder.create("noCall2", noCall), - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("hap", Arrays.asList(ref))); - - addGenotypeTests(site, - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); - - addGenotypeTests(site, - GenotypeBuilder.create("noCall", noCall), - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); - - addGenotypeTests(site, - GenotypeBuilder.create("noCall", noCall), - GenotypeBuilder.create("noCall2", noCall), - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); - - addGenotypeTests(site, - GenotypeBuilder.create("nocall", noCall), - GenotypeBuilder.create("dip", Arrays.asList(ref, alt1)), - GenotypeBuilder.create("tet", Arrays.asList(ref, alt1, alt1))); - } - - - // - // - // TESTING PHASE - // - // - final Genotype gUnphased = new GenotypeBuilder("gUnphased", Arrays.asList(ref, alt1)).make(); - final Genotype gPhased = new GenotypeBuilder("gPhased", Arrays.asList(ref, alt1)).phased(true).make(); - final Genotype gPhased2 = new GenotypeBuilder("gPhased2", Arrays.asList(alt1, alt1)).phased(true).make(); - final Genotype gPhased3 = new GenotypeBuilder("gPhased3", Arrays.asList(ref, ref)).phased(true).make(); - final Genotype haploidNoPhase = new GenotypeBuilder("haploidNoPhase", Arrays.asList(ref)).make(); - addGenotypeTests(site, gUnphased, gPhased); - addGenotypeTests(site, gUnphased, gPhased2); - addGenotypeTests(site, gUnphased, gPhased3); - addGenotypeTests(site, gPhased, gPhased2); - addGenotypeTests(site, gPhased, gPhased3); - addGenotypeTests(site, gPhased2, gPhased3); - addGenotypeTests(site, haploidNoPhase, gPhased); - addGenotypeTests(site, haploidNoPhase, gPhased2); - addGenotypeTests(site, haploidNoPhase, gPhased3); - addGenotypeTests(site, haploidNoPhase, gPhased, gPhased2); - addGenotypeTests(site, haploidNoPhase, gPhased, gPhased3); - addGenotypeTests(site, haploidNoPhase, gPhased2, gPhased3); - addGenotypeTests(site, haploidNoPhase, gPhased, gPhased2, gPhased3); - - final Genotype gUnphasedTet = new GenotypeBuilder("gUnphasedTet", Arrays.asList(ref, alt1, ref, alt1)).make(); - final Genotype gPhasedTet = new GenotypeBuilder("gPhasedTet", Arrays.asList(ref, alt1, alt1, alt1)).phased(true).make(); - addGenotypeTests(site, gUnphasedTet, gPhasedTet); - } - - if ( ENABLE_PL_TESTS ) { - if ( site.getNAlleles() == 2 ) { - // testing PLs - addGenotypeTests(site, - GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{0, -1, -2}), - GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2, -3})); - - addGenotypeTests(site, - GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{-1, 0, -2}), - GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2, -3})); - - addGenotypeTests(site, - GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{-1, 0, -2}), - GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2000, -1000})); - - addGenotypeTests(site, // missing PLs - GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{-1, 0, -2}), - GenotypeBuilder.create("g2", Arrays.asList(ref, ref))); - } - else if ( site.getNAlleles() == 3 ) { - // testing PLs - addGenotypeTests(site, - GenotypeBuilder.create("g1", Arrays.asList(ref, ref), new double[]{0, -1, -2, -3, -4, -5}), - GenotypeBuilder.create("g2", Arrays.asList(ref, ref), new double[]{0, -2, -3, -4, -5, -6})); - } - } - - // test attributes - addGenotypeTests(site, - attr("g1", ref, "INT1", 1), - attr("g2", ref, "INT1", 2)); - addGenotypeTests(site, - attr("g1", ref, "INT1", 1), - attr("g2", ref, "INT1")); - addGenotypeTests(site, - attr("g1", ref, "INT3", 1, 2, 3), - attr("g2", ref, "INT3", 4, 5, 6)); - addGenotypeTests(site, - attr("g1", ref, "INT3", 1, 2, 3), - attr("g2", ref, "INT3")); - - addGenotypeTests(site, - attr("g1", ref, "INT20", TWENTY_INTS), - attr("g2", ref, "INT20", TWENTY_INTS)); - - - if (ENABLE_VARARRAY_TESTS) { - addGenotypeTests(site, - attr("g1", ref, "INT.VAR", 1, 2, 3), - attr("g2", ref, "INT.VAR", 4, 5), - attr("g3", ref, "INT.VAR", 6)); - addGenotypeTests(site, - attr("g1", ref, "INT.VAR", 1, 2, 3), - attr("g2", ref, "INT.VAR"), - attr("g3", ref, "INT.VAR", 5)); - } - - addGenotypeTests(site, - attr("g1", ref, "FLOAT1", 1.0), - attr("g2", ref, "FLOAT1", 2.0)); - addGenotypeTests(site, - attr("g1", ref, "FLOAT1", 1.0), - attr("g2", ref, "FLOAT1")); - addGenotypeTests(site, - attr("g1", ref, "FLOAT3", 1.0, 2.0, 3.0), - attr("g2", ref, "FLOAT3", 4.0, 5.0, 6.0)); - addGenotypeTests(site, - attr("g1", ref, "FLOAT3", 1.0, 2.0, 3.0), - attr("g2", ref, "FLOAT3")); - - if (ENABLE_VARIABLE_LENGTH_GENOTYPE_STRING_TESTS) { - // - // - // TESTING MULTIPLE SIZED LISTS IN THE GENOTYPE FIELD - // - // - addGenotypeTests(site, - attr("g1", ref, "GS", Arrays.asList("S1", "S2")), - attr("g2", ref, "GS", Arrays.asList("S3", "S4"))); - - addGenotypeTests(site, // g1 is missing the string, and g2 is missing FLOAT1 - attr("g1", ref, "FLOAT1", 1.0), - attr("g2", ref, "GS", Arrays.asList("S3", "S4"))); - - // variable sized lists - addGenotypeTests(site, - attr("g1", ref, "GV", "S1"), - attr("g2", ref, "GV", Arrays.asList("S3", "S4"))); - - addGenotypeTests(site, - attr("g1", ref, "GV", Arrays.asList("S1", "S2")), - attr("g2", ref, "GV", Arrays.asList("S3", "S4", "S5"))); - - addGenotypeTests(site, // missing value in varlist of string - attr("g1", ref, "FLOAT1", 1.0), - attr("g2", ref, "GV", Arrays.asList("S3", "S4", "S5"))); - } - - // - // - // TESTING GENOTYPE FILTERS - // - // - addGenotypeTests(site, - new GenotypeBuilder("g1-x", Arrays.asList(ref, ref)).filters("X").make(), - new GenotypeBuilder("g2-x", Arrays.asList(ref, ref)).filters("X").make()); - addGenotypeTests(site, - new GenotypeBuilder("g1-unft", Arrays.asList(ref, ref)).unfiltered().make(), - new GenotypeBuilder("g2-x", Arrays.asList(ref, ref)).filters("X").make()); - addGenotypeTests(site, - new GenotypeBuilder("g1-unft", Arrays.asList(ref, ref)).unfiltered().make(), - new GenotypeBuilder("g2-xy", Arrays.asList(ref, ref)).filters("X", "Y").make()); - addGenotypeTests(site, - new GenotypeBuilder("g1-unft", Arrays.asList(ref, ref)).unfiltered().make(), - new GenotypeBuilder("g2-x", Arrays.asList(ref, ref)).filters("X").make(), - new GenotypeBuilder("g3-xy", Arrays.asList(ref, ref)).filters("X", "Y").make()); - } - - private static void addGenotypesAndGTests() { -// for ( final int ploidy : Arrays.asList(2)) { - for ( final int ploidy : Arrays.asList(1, 2, 3, 4, 5)) { - final List> alleleCombinations = - Arrays.asList( - Arrays.asList("A"), - Arrays.asList("A", "C"), - Arrays.asList("A", "C", "G"), - Arrays.asList("A", "C", "G", "T")); - - for ( final List alleles : alleleCombinations ) { - final VariantContextBuilder vcb = builder().alleles(alleles); - final VariantContext site = vcb.make(); - final int nAlleles = site.getNAlleles(); - final Allele ref = site.getReference(); - - // base genotype is ref/.../ref up to ploidy - final List baseGenotype = new ArrayList(ploidy); - for ( int i = 0; i < ploidy; i++) baseGenotype.add(ref); - final int nPLs = GenotypeLikelihoods.numLikelihoods(nAlleles, ploidy); - - // ada is 0, 1, ..., nAlleles - 1 - final List ada = new ArrayList(nAlleles); - for ( int i = 0; i < nAlleles - 1; i++ ) ada.add(i); - - // pl is 0, 1, ..., up to nPLs (complex calc of nAlleles and ploidy) - final int[] pl = new int[nPLs]; - for ( int i = 0; i < pl.length; i++ ) pl[i] = i; - - final GenotypeBuilder gb = new GenotypeBuilder("ADA_PL_SAMPLE"); - gb.alleles(baseGenotype); - gb.PL(pl); - gb.attribute("ADA", nAlleles == 2 ? ada.get(0) : ada); - vcb.genotypes(gb.make()); - - add(vcb); - } - } - } - - private static Genotype attr(final String name, final Allele ref, final String key, final Object ... value) { - if ( value.length == 0 ) - return GenotypeBuilder.create(name, Arrays.asList(ref, ref)); - else { - final Object toAdd = value.length == 1 ? value[0] : Arrays.asList(value); - return new GenotypeBuilder(name, Arrays.asList(ref, ref)).attribute(key, toAdd).make(); - } - } - - public static List generateSiteTests() { - return TEST_DATAs; - } - - public static void testReaderWriterWithMissingGenotypes(final VariantContextIOTest tester, final VariantContextTestData data) throws IOException { - final int nSamples = data.header.getNGenotypeSamples(); - if ( nSamples > 2 ) { - for ( final VariantContext vc : data.vcs ) - if ( vc.isSymbolic() ) - // cannot handle symbolic alleles because they may be weird non-call VCFs - return; - - final File tmpFile = File.createTempFile("testReaderWriter", tester.getExtension()); - tmpFile.deleteOnExit(); - - // write expected to disk - final EnumSet options = EnumSet.of(Options.INDEX_ON_THE_FLY); - final VariantContextWriter writer = tester.makeWriter(tmpFile, options); - - final Set samplesInVCF = new HashSet(data.header.getGenotypeSamples()); - final List missingSamples = Arrays.asList("MISSING1", "MISSING2"); - final List allSamples = new ArrayList(missingSamples); - allSamples.addAll(samplesInVCF); - - final VCFHeader header = new VCFHeader(data.header.getMetaDataInInputOrder(), allSamples); - writeVCsToFile(writer, header, data.vcs); - - // ensure writing of expected == actual - final VariantContextContainer p = readAllVCs(tmpFile, tester.makeCodec()); - final Iterable actual = p.getVCs(); - - int i = 0; - for ( final VariantContext readVC : actual ) { - if ( readVC == null ) continue; // sometimes we read null records... - final VariantContext expected = data.vcs.get(i++); - for ( final Genotype g : readVC.getGenotypes() ) { - Assert.assertTrue(allSamples.contains(g.getSampleName())); - if ( samplesInVCF.contains(g.getSampleName()) ) { - assertEquals(g, expected.getGenotype(g.getSampleName())); - } else { - // missing - Assert.assertTrue(g.isNoCall()); - } - } - } - - } - } - - public static void testReaderWriter(final VariantContextIOTest tester, final VariantContextTestData data) throws IOException { - testReaderWriter(tester, data.header, data.vcs, data.vcs, true); - } - - public static void testReaderWriter(final VariantContextIOTest tester, - final VCFHeader header, - final List expected, - final Iterable vcs, - final boolean recurse) throws IOException { - final File tmpFile = File.createTempFile("testReaderWriter", tester.getExtension()); - tmpFile.deleteOnExit(); - - // write expected to disk - final EnumSet options = EnumSet.of(Options.INDEX_ON_THE_FLY); - final VariantContextWriter writer = tester.makeWriter(tmpFile, options); - writeVCsToFile(writer, header, vcs); - - // ensure writing of expected == actual - final VariantContextContainer p = readAllVCs(tmpFile, tester.makeCodec()); - final Iterable actual = p.getVCs(); - assertEquals(actual, expected); - - if ( recurse ) { - // if we are doing a recursive test, grab a fresh iterator over the written values - final Iterable read = readAllVCs(tmpFile, tester.makeCodec()).getVCs(); - testReaderWriter(tester, p.getHeader(), expected, read, false); - } - } - - private static void writeVCsToFile(final VariantContextWriter writer, final VCFHeader header, final Iterable vcs) { - // write - writer.writeHeader(header); - for ( VariantContext vc : vcs ) - if (vc != null) - writer.add(vc); - writer.close(); - } - - /** - * Utility class to read all of the VC records from a file - * - * @param source - * @param codec - * @return - * @throws IOException - */ - public final static VariantContextContainer readAllVCs( final File source, final FeatureCodec codec ) throws IOException { - // read in the features - PositionalBufferedStream pbs = new PositionalBufferedStream(new FileInputStream(source)); - FeatureCodecHeader header = codec.readHeader(pbs); - pbs.close(); - - pbs = new PositionalBufferedStream(new FileInputStream(source)); - pbs.skip(header.getHeaderEnd()); - - final VCFHeader vcfHeader = (VCFHeader)header.getHeaderValue(); - return new VariantContextContainer(vcfHeader, new VCIterable(pbs, codec, vcfHeader)); - } - - public static class VCIterable implements Iterable, Iterator { - final PositionalBufferedStream pbs; - final FeatureCodec codec; - final VCFHeader header; - - private VCIterable(final PositionalBufferedStream pbs, final FeatureCodec codec, final VCFHeader header) { - this.pbs = pbs; - this.codec = codec; - this.header = header; - } - - @Override - public Iterator iterator() { - return this; - } - - @Override - public boolean hasNext() { - try { - return ! pbs.isDone(); - } catch ( IOException e ) { - throw new RuntimeException(e); - } - } - - @Override - public VariantContext next() { - try { - final VariantContext vc = codec.decode(pbs); - return vc == null ? null : vc.fullyDecode(header, false); - } catch ( IOException e ) { - throw new RuntimeException(e); - } - } - - @Override - public void remove() { - //To change body of implemented methods use File | Settings | File Templates. - } - } - - public static void assertVCFandBCFFilesAreTheSame(final File vcfFile, final File bcfFile) throws IOException { - final VariantContextContainer vcfData = readAllVCs(vcfFile, new VCFCodec()); - final VariantContextContainer bcfData = readAllVCs(bcfFile, new BCF2Codec()); - assertEquals(bcfData.getHeader(), vcfData.getHeader()); - assertEquals(bcfData.getVCs(), vcfData.getVCs()); - } - - public static void assertEquals(final Iterable actual, final Iterable expected) { - final Iterator actualIT = actual.iterator(); - final Iterator expectedIT = expected.iterator(); - - while ( expectedIT.hasNext() ) { - final VariantContext expectedVC = expectedIT.next(); - if ( expectedVC == null ) - continue; - - VariantContext actualVC; - do { - Assert.assertTrue(actualIT.hasNext(), "Too few records found in actual"); - actualVC = actualIT.next(); - } while ( actualIT.hasNext() && actualVC == null ); - - if ( actualVC == null ) - Assert.fail("Too few records in actual"); - - assertEquals(actualVC, expectedVC); - } - Assert.assertTrue(! actualIT.hasNext(), "Too many records found in actual"); - } - - /** - * Assert that two variant contexts are actually equal - * @param actual - * @param expected - */ - public static void assertEquals( final VariantContext actual, final VariantContext expected ) { - Assert.assertNotNull(actual, "VariantContext expected not null"); - Assert.assertEquals(actual.getChr(), expected.getChr(), "chr"); - Assert.assertEquals(actual.getStart(), expected.getStart(), "start"); - Assert.assertEquals(actual.getEnd(), expected.getEnd(), "end"); - Assert.assertEquals(actual.getID(), expected.getID(), "id"); - Assert.assertEquals(actual.getAlleles(), expected.getAlleles(), "alleles for " + expected + " vs " + actual); - - assertAttributesEquals(actual.getAttributes(), expected.getAttributes()); - Assert.assertEquals(actual.filtersWereApplied(), expected.filtersWereApplied(), "filtersWereApplied"); - Assert.assertEquals(actual.isFiltered(), expected.isFiltered(), "isFiltered"); - VariantBaseTest.assertEqualsSet(actual.getFilters(), expected.getFilters(), "filters"); - VariantBaseTest.assertEqualsDoubleSmart(actual.getPhredScaledQual(), expected.getPhredScaledQual()); - - Assert.assertEquals(actual.hasGenotypes(), expected.hasGenotypes(), "hasGenotypes"); - if ( expected.hasGenotypes() ) { - VariantBaseTest.assertEqualsSet(actual.getSampleNames(), expected.getSampleNames(), "sample names set"); - Assert.assertEquals(actual.getSampleNamesOrderedByName(), expected.getSampleNamesOrderedByName(), "sample names"); - final Set samples = expected.getSampleNames(); - for ( final String sample : samples ) { - assertEquals(actual.getGenotype(sample), expected.getGenotype(sample)); - } - } - } - - public static void assertEquals(final Genotype actual, final Genotype expected) { - Assert.assertEquals(actual.getSampleName(), expected.getSampleName(), "Genotype names"); - Assert.assertEquals(actual.getAlleles(), expected.getAlleles(), "Genotype alleles"); - Assert.assertEquals(actual.getGenotypeString(), expected.getGenotypeString(), "Genotype string"); - Assert.assertEquals(actual.getType(), expected.getType(), "Genotype type"); - - // filters are the same - Assert.assertEquals(actual.getFilters(), expected.getFilters(), "Genotype fields"); - Assert.assertEquals(actual.isFiltered(), expected.isFiltered(), "Genotype isFiltered"); - - // inline attributes - Assert.assertEquals(actual.getDP(), expected.getDP(), "Genotype dp"); - Assert.assertEquals(actual.getAD(), expected.getAD(), "Genotype ad"); - Assert.assertEquals(actual.getGQ(), expected.getGQ(), "Genotype gq"); - Assert.assertEquals(actual.hasPL(), expected.hasPL(), "Genotype hasPL"); - Assert.assertEquals(actual.hasAD(), expected.hasAD(), "Genotype hasAD"); - Assert.assertEquals(actual.hasGQ(), expected.hasGQ(), "Genotype hasGQ"); - Assert.assertEquals(actual.hasDP(), expected.hasDP(), "Genotype hasDP"); - - Assert.assertEquals(actual.hasLikelihoods(), expected.hasLikelihoods(), "Genotype haslikelihoods"); - Assert.assertEquals(actual.getLikelihoodsString(), expected.getLikelihoodsString(), "Genotype getlikelihoodsString"); - Assert.assertEquals(actual.getLikelihoods(), expected.getLikelihoods(), "Genotype getLikelihoods"); - Assert.assertEquals(actual.getPL(), expected.getPL(), "Genotype getPL"); - - Assert.assertEquals(actual.getPhredScaledQual(), expected.getPhredScaledQual(), "Genotype phredScaledQual"); - assertAttributesEquals(actual.getExtendedAttributes(), expected.getExtendedAttributes()); - Assert.assertEquals(actual.isPhased(), expected.isPhased(), "Genotype isPhased"); - Assert.assertEquals(actual.getPloidy(), expected.getPloidy(), "Genotype getPloidy"); - } - - private static void assertAttributesEquals(final Map actual, Map expected) { - final Set expectedKeys = new HashSet(expected.keySet()); - - for ( final Map.Entry act : actual.entrySet() ) { - final Object actualValue = act.getValue(); - if ( expected.containsKey(act.getKey()) && expected.get(act.getKey()) != null ) { - final Object expectedValue = expected.get(act.getKey()); - if ( expectedValue instanceof List ) { - final List expectedList = (List)expectedValue; - Assert.assertTrue(actualValue instanceof List, act.getKey() + " should be a list but isn't"); - final List actualList = (List)actualValue; - Assert.assertEquals(actualList.size(), expectedList.size(), act.getKey() + " size"); - for ( int i = 0; i < expectedList.size(); i++ ) - assertAttributeEquals(act.getKey(), actualList.get(i), expectedList.get(i)); - } else - assertAttributeEquals(act.getKey(), actualValue, expectedValue); - } else { - // it's ok to have a binding in x -> null that's absent in y - Assert.assertNull(actualValue, act.getKey() + " present in one but not in the other"); - } - expectedKeys.remove(act.getKey()); - } - - // now expectedKeys contains only the keys found in expected but not in actual, - // and they must all be null - for ( final String missingExpected : expectedKeys ) { - final Object value = expected.get(missingExpected); - Assert.assertTrue(isMissing(value), "Attribute " + missingExpected + " missing in one but not in other" ); - } - } - - private static final boolean isMissing(final Object value) { - if ( value == null ) return true; - else if ( value.equals(VCFConstants.MISSING_VALUE_v4) ) return true; - else if ( value instanceof List ) { - // handles the case where all elements are null or the list is empty - for ( final Object elt : (List)value) - if ( elt != null ) - return false; - return true; - } else - return false; - } - - private static void assertAttributeEquals(final String key, final Object actual, final Object expected) { - if ( expected instanceof Double ) { - // must be very tolerant because doubles are being rounded to 2 sig figs - VariantBaseTest.assertEqualsDoubleSmart(actual, (Double)expected, 1e-2); - } else - Assert.assertEquals(actual, expected, "Attribute " + key); - } - - public static void addComplexGenotypesTest() { - final List allAlleles = Arrays.asList( - Allele.create("A", true), - Allele.create("C", false), - Allele.create("G", false)); - - for ( int nAlleles : Arrays.asList(2, 3) ) { - for ( int highestPloidy : Arrays.asList(1, 2, 3) ) { - // site alleles - final List siteAlleles = allAlleles.subList(0, nAlleles); - - // possible alleles for genotypes - final List possibleGenotypeAlleles = new ArrayList(siteAlleles); - possibleGenotypeAlleles.add(Allele.NO_CALL); - - // there are n^ploidy possible genotypes - final List> possibleGenotypes = makeAllGenotypes(possibleGenotypeAlleles, highestPloidy); - final int nPossibleGenotypes = possibleGenotypes.size(); - - VariantContextBuilder vb = new VariantContextBuilder("unittest", "1", 1, 1, siteAlleles); - - // first test -- create n copies of each genotype - for ( int i = 0; i < nPossibleGenotypes; i++ ) { - final List samples = new ArrayList(3); - samples.add(GenotypeBuilder.create("sample" + i, possibleGenotypes.get(i))); - add(vb.genotypes(samples)); - } - - // second test -- create one sample with each genotype - { - final List samples = new ArrayList(nPossibleGenotypes); - for ( int i = 0; i < nPossibleGenotypes; i++ ) { - samples.add(GenotypeBuilder.create("sample" + i, possibleGenotypes.get(i))); - } - add(vb.genotypes(samples)); - } - - // test mixed ploidy - for ( int i = 0; i < nPossibleGenotypes; i++ ) { - for ( int ploidy = 1; ploidy < highestPloidy; ploidy++ ) { - final List samples = new ArrayList(highestPloidy); - final List genotype = possibleGenotypes.get(i).subList(0, ploidy); - samples.add(GenotypeBuilder.create("sample" + i, genotype)); - add(vb.genotypes(samples)); - } - } - } - } - } - - private static List> makeAllGenotypes(final List alleles, final int highestPloidy) { - return GeneralUtils.makePermutations(alleles, highestPloidy, true); - } - - public static void assertEquals(final VCFHeader actual, final VCFHeader expected) { - Assert.assertEquals(actual.getMetaDataInSortedOrder().size(), expected.getMetaDataInSortedOrder().size(), "No VCF header lines"); - - // for some reason set.equals() is returning false but all paired elements are .equals(). Perhaps compare to is busted? - //Assert.assertEquals(actual.getMetaDataInInputOrder(), expected.getMetaDataInInputOrder()); - final List actualLines = new ArrayList(actual.getMetaDataInSortedOrder()); - final List expectedLines = new ArrayList(expected.getMetaDataInSortedOrder()); - for ( int i = 0; i < actualLines.size(); i++ ) { - Assert.assertEquals(actualLines.get(i), expectedLines.get(i), "VCF header lines"); - } - } - - public static void main( String argv[] ) { - final File variants1 = new File(argv[0]); - final File variants2 = new File(argv[1]); - try { - VariantContextTestProvider.assertVCFandBCFFilesAreTheSame(variants1, variants2); - } catch ( IOException e ) { - throw new RuntimeException(e); - } - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/VariantContextUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/VariantContextUnitTest.java deleted file mode 100644 index 103c8ab3b..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/VariantContextUnitTest.java +++ /dev/null @@ -1,918 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - - -// the imports for unit testing. - -import org.broadinstitute.variant.VariantBaseTest; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.BeforeMethod; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; -import org.testng.Assert; - -import java.util.*; - - -public class VariantContextUnitTest extends VariantBaseTest { - Allele A, Aref, C, T, Tref; - Allele del, delRef, ATC, ATCref; - - // A [ref] / T at 10 - String snpLoc = "chr1"; - int snpLocStart = 10; - int snpLocStop = 10; - - // - / ATC [ref] from 20-22 - String delLoc = "chr1"; - int delLocStart = 20; - int delLocStop = 22; - - // - [ref] / ATC from 20-20 - String insLoc = "chr1"; - int insLocStart = 20; - int insLocStop = 20; - - VariantContextBuilder basicBuilder, snpBuilder, insBuilder; - - @BeforeSuite - public void before() { - del = Allele.create("A"); - delRef = Allele.create("A", true); - - A = Allele.create("A"); - C = Allele.create("C"); - Aref = Allele.create("A", true); - T = Allele.create("T"); - Tref = Allele.create("T", true); - - ATC = Allele.create("ATC"); - ATCref = Allele.create("ATC", true); - } - - @BeforeMethod - public void beforeTest() { - basicBuilder = new VariantContextBuilder("test", snpLoc,snpLocStart, snpLocStop, Arrays.asList(Aref, T)); - snpBuilder = new VariantContextBuilder("test", snpLoc,snpLocStart, snpLocStop, Arrays.asList(Aref, T)); - insBuilder = new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(delRef, ATC)); - } - - @Test - public void testDetermineTypes() { - Allele ACref = Allele.create("AC", true); - Allele AC = Allele.create("AC"); - Allele AT = Allele.create("AT"); - Allele C = Allele.create("C"); - Allele CAT = Allele.create("CAT"); - Allele TAref = Allele.create("TA", true); - Allele TA = Allele.create("TA"); - Allele TC = Allele.create("TC"); - Allele symbolic = Allele.create(""); - - // test REF - List alleles = Arrays.asList(Tref); - VariantContext vc = snpBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.NO_VARIATION); - - // test SNPs - alleles = Arrays.asList(Tref, A); - vc = snpBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.SNP); - - alleles = Arrays.asList(Tref, A, C); - vc = snpBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.SNP); - - // test MNPs - alleles = Arrays.asList(ACref, TA); - vc = snpBuilder.alleles(alleles).stop(snpLocStop+1).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.MNP); - - alleles = Arrays.asList(ATCref, CAT, Allele.create("GGG")); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+2).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.MNP); - - // test INDELs - alleles = Arrays.asList(Aref, ATC); - vc = basicBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - - alleles = Arrays.asList(ATCref, A); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+2).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - - alleles = Arrays.asList(Tref, TA, TC); - vc = basicBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - - alleles = Arrays.asList(ATCref, A, AC); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+2).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - - alleles = Arrays.asList(ATCref, A, Allele.create("ATCTC")); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+2).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - - // test MIXED - alleles = Arrays.asList(TAref, T, TC); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+1).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.MIXED); - - alleles = Arrays.asList(TAref, T, AC); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+1).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.MIXED); - - alleles = Arrays.asList(ACref, ATC, AT); - vc = basicBuilder.alleles(alleles).stop(snpLocStop+1).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.MIXED); - - alleles = Arrays.asList(Aref, T, symbolic); - vc = basicBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.MIXED); - - // test SYMBOLIC - alleles = Arrays.asList(Tref, symbolic); - vc = basicBuilder.alleles(alleles).stop(snpLocStop).make(); - Assert.assertEquals(vc.getType(), VariantContext.Type.SYMBOLIC); - } - - @Test - public void testMultipleSNPAlleleOrdering() { - final List allelesNaturalOrder = Arrays.asList(Aref, C, T); - final List allelesUnnaturalOrder = Arrays.asList(Aref, T, C); - VariantContext naturalVC = snpBuilder.alleles(allelesNaturalOrder).make(); - VariantContext unnaturalVC = snpBuilder.alleles(allelesUnnaturalOrder).make(); - Assert.assertEquals(new ArrayList(naturalVC.getAlleles()), allelesNaturalOrder); - Assert.assertEquals(new ArrayList(unnaturalVC.getAlleles()), allelesUnnaturalOrder); - } - - @Test - public void testCreatingSNPVariantContext() { - - List alleles = Arrays.asList(Aref, T); - VariantContext vc = snpBuilder.alleles(alleles).make(); - - Assert.assertEquals(vc.getChr(), snpLoc); - Assert.assertEquals(vc.getStart(), snpLocStart); - Assert.assertEquals(vc.getEnd(), snpLocStop); - Assert.assertEquals(vc.getType(), VariantContext.Type.SNP); - Assert.assertTrue(vc.isSNP()); - Assert.assertFalse(vc.isIndel()); - Assert.assertFalse(vc.isSimpleInsertion()); - Assert.assertFalse(vc.isSimpleDeletion()); - Assert.assertFalse(vc.isMixed()); - Assert.assertTrue(vc.isBiallelic()); - Assert.assertEquals(vc.getNAlleles(), 2); - - Assert.assertEquals(vc.getReference(), Aref); - Assert.assertEquals(vc.getAlleles().size(), 2); - Assert.assertEquals(vc.getAlternateAlleles().size(), 1); - Assert.assertEquals(vc.getAlternateAllele(0), T); - - Assert.assertFalse(vc.hasGenotypes()); - - Assert.assertEquals(vc.getSampleNames().size(), 0); - } - - @Test - public void testCreatingRefVariantContext() { - List alleles = Arrays.asList(Aref); - VariantContext vc = snpBuilder.alleles(alleles).make(); - - Assert.assertEquals(vc.getChr(), snpLoc); - Assert.assertEquals(vc.getStart(), snpLocStart); - Assert.assertEquals(vc.getEnd(), snpLocStop); - Assert.assertEquals(VariantContext.Type.NO_VARIATION, vc.getType()); - Assert.assertFalse(vc.isSNP()); - Assert.assertFalse(vc.isIndel()); - Assert.assertFalse(vc.isSimpleInsertion()); - Assert.assertFalse(vc.isSimpleDeletion()); - Assert.assertFalse(vc.isMixed()); - Assert.assertFalse(vc.isBiallelic()); - Assert.assertEquals(vc.getNAlleles(), 1); - - Assert.assertEquals(vc.getReference(), Aref); - Assert.assertEquals(vc.getAlleles().size(), 1); - Assert.assertEquals(vc.getAlternateAlleles().size(), 0); - //Assert.assertEquals(vc.getAlternateAllele(0), T); - - Assert.assertFalse(vc.hasGenotypes()); - Assert.assertEquals(vc.getSampleNames().size(), 0); - } - - @Test - public void testCreatingDeletionVariantContext() { - List alleles = Arrays.asList(ATCref, del); - VariantContext vc = new VariantContextBuilder("test", delLoc, delLocStart, delLocStop, alleles).make(); - - Assert.assertEquals(vc.getChr(), delLoc); - Assert.assertEquals(vc.getStart(), delLocStart); - Assert.assertEquals(vc.getEnd(), delLocStop); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - Assert.assertFalse(vc.isSNP()); - Assert.assertTrue(vc.isIndel()); - Assert.assertFalse(vc.isSimpleInsertion()); - Assert.assertTrue(vc.isSimpleDeletion()); - Assert.assertFalse(vc.isMixed()); - Assert.assertTrue(vc.isBiallelic()); - Assert.assertEquals(vc.getNAlleles(), 2); - - Assert.assertEquals(vc.getReference(), ATCref); - Assert.assertEquals(vc.getAlleles().size(), 2); - Assert.assertEquals(vc.getAlternateAlleles().size(), 1); - Assert.assertEquals(vc.getAlternateAllele(0), del); - - Assert.assertFalse(vc.hasGenotypes()); - - Assert.assertEquals(vc.getSampleNames().size(), 0); - } - - @Test - public void testMatchingAlleles() { - List alleles = Arrays.asList(ATCref, del); - VariantContext vc = new VariantContextBuilder("test", delLoc, delLocStart, delLocStop, alleles).make(); - VariantContext vc2 = new VariantContextBuilder("test2", delLoc, delLocStart+12, delLocStop+12, alleles).make(); - - Assert.assertTrue(vc.hasSameAllelesAs(vc2)); - Assert.assertTrue(vc.hasSameAlternateAllelesAs(vc2)); - } - - @Test - public void testCreatingInsertionVariantContext() { - List alleles = Arrays.asList(delRef, ATC); - VariantContext vc = insBuilder.alleles(alleles).make(); - - Assert.assertEquals(vc.getChr(), insLoc); - Assert.assertEquals(vc.getStart(), insLocStart); - Assert.assertEquals(vc.getEnd(), insLocStop); - Assert.assertEquals(vc.getType(), VariantContext.Type.INDEL); - Assert.assertFalse(vc.isSNP()); - Assert.assertTrue(vc.isIndel()); - Assert.assertTrue(vc.isSimpleInsertion()); - Assert.assertFalse(vc.isSimpleDeletion()); - Assert.assertFalse(vc.isMixed()); - Assert.assertTrue(vc.isBiallelic()); - Assert.assertEquals(vc.getNAlleles(), 2); - - Assert.assertEquals(vc.getReference(), delRef); - Assert.assertEquals(vc.getAlleles().size(), 2); - Assert.assertEquals(vc.getAlternateAlleles().size(), 1); - Assert.assertEquals(vc.getAlternateAllele(0), ATC); - Assert.assertFalse(vc.hasGenotypes()); - - Assert.assertEquals(vc.getSampleNames().size(), 0); - } - - @Test - public void testCreatingPartiallyCalledGenotype() { - List alleles = Arrays.asList(Aref, C); - Genotype g = GenotypeBuilder.create("foo", Arrays.asList(C, Allele.NO_CALL)); - VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g).make(); - - Assert.assertTrue(vc.isSNP()); - Assert.assertEquals(vc.getNAlleles(), 2); - Assert.assertTrue(vc.hasGenotypes()); - Assert.assertFalse(vc.isMonomorphicInSamples()); - Assert.assertTrue(vc.isPolymorphicInSamples()); - Assert.assertEquals(vc.getGenotype("foo"), g); - Assert.assertEquals(vc.getCalledChrCount(), 1); // we only have 1 called chromosomes, we exclude the NO_CALL one isn't called - Assert.assertEquals(vc.getCalledChrCount(Aref), 0); - Assert.assertEquals(vc.getCalledChrCount(C), 1); - Assert.assertFalse(vc.getGenotype("foo").isHet()); - Assert.assertFalse(vc.getGenotype("foo").isHom()); - Assert.assertFalse(vc.getGenotype("foo").isNoCall()); - Assert.assertFalse(vc.getGenotype("foo").isHom()); - Assert.assertTrue(vc.getGenotype("foo").isMixed()); - Assert.assertEquals(vc.getGenotype("foo").getType(), GenotypeType.MIXED); - } - - @Test (expectedExceptions = Exception.class) - public void testBadConstructorArgs1() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(delRef, ATCref)).make(); - } - - @Test (expectedExceptions = Exception.class) - public void testBadConstructorArgs2() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(delRef, del)).make(); - } - - @Test (expectedExceptions = Exception.class) - public void testBadConstructorArgs3() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(del)).make(); - } - - @Test (expectedExceptions = Throwable.class) - public void testBadConstructorArgs4() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Collections.emptyList()).make(); - } - - @Test (expectedExceptions = Exception.class) - public void testBadConstructorArgsDuplicateAlleles1() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(Aref, T, T)).make(); - } - - @Test (expectedExceptions = Exception.class) - public void testBadConstructorArgsDuplicateAlleles2() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(Aref, A)).make(); - } - - @Test (expectedExceptions = Throwable.class) - public void testBadLoc1() { - List alleles = Arrays.asList(Aref, T, del); - new VariantContextBuilder("test", delLoc, delLocStart, delLocStop, alleles).make(); - } - - @Test (expectedExceptions = Throwable.class) - public void testBadID1() { - new VariantContextBuilder("test", delLoc, delLocStart, delLocStop, Arrays.asList(Aref, T)).id(null).make(); - } - - @Test (expectedExceptions = Exception.class) - public void testBadID2() { - new VariantContextBuilder("test", delLoc, delLocStart, delLocStop, Arrays.asList(Aref, T)).id("").make(); - } - - @Test (expectedExceptions = Throwable.class) - public void testBadPError() { - new VariantContextBuilder("test", insLoc, insLocStart, insLocStop, Arrays.asList(delRef, ATCref)).log10PError(0.5).make(); - } - - @Test - public void testAccessingSimpleSNPGenotypes() { - List alleles = Arrays.asList(Aref, T); - - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - - VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles) - .genotypes(g1, g2, g3).make(); - - Assert.assertTrue(vc.hasGenotypes()); - Assert.assertFalse(vc.isMonomorphicInSamples()); - Assert.assertTrue(vc.isPolymorphicInSamples()); - Assert.assertEquals(vc.getSampleNames().size(), 3); - - Assert.assertEquals(vc.getGenotypes().size(), 3); - Assert.assertEquals(vc.getGenotypes().get("AA"), g1); - Assert.assertEquals(vc.getGenotype("AA"), g1); - Assert.assertEquals(vc.getGenotypes().get("AT"), g2); - Assert.assertEquals(vc.getGenotype("AT"), g2); - Assert.assertEquals(vc.getGenotypes().get("TT"), g3); - Assert.assertEquals(vc.getGenotype("TT"), g3); - - Assert.assertTrue(vc.hasGenotype("AA")); - Assert.assertTrue(vc.hasGenotype("AT")); - Assert.assertTrue(vc.hasGenotype("TT")); - Assert.assertFalse(vc.hasGenotype("foo")); - Assert.assertFalse(vc.hasGenotype("TTT")); - Assert.assertFalse(vc.hasGenotype("at")); - Assert.assertFalse(vc.hasGenotype("tt")); - - Assert.assertEquals(vc.getCalledChrCount(), 6); - Assert.assertEquals(vc.getCalledChrCount(Aref), 3); - Assert.assertEquals(vc.getCalledChrCount(T), 3); - } - - @Test - public void testAccessingCompleteGenotypes() { - List alleles = Arrays.asList(Aref, T, ATC); - - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - Genotype g4 = GenotypeBuilder.create("Td", Arrays.asList(T, ATC)); - Genotype g5 = GenotypeBuilder.create("dd", Arrays.asList(ATC, ATC)); - Genotype g6 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); - - VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles) - .genotypes(g1, g2, g3, g4, g5, g6).make(); - - Assert.assertTrue(vc.hasGenotypes()); - Assert.assertFalse(vc.isMonomorphicInSamples()); - Assert.assertTrue(vc.isPolymorphicInSamples()); - Assert.assertEquals(vc.getGenotypes().size(), 6); - - Assert.assertEquals(3, vc.getGenotypes(Arrays.asList("AA", "Td", "dd")).size()); - - Assert.assertEquals(10, vc.getCalledChrCount()); - Assert.assertEquals(3, vc.getCalledChrCount(Aref)); - Assert.assertEquals(4, vc.getCalledChrCount(T)); - Assert.assertEquals(3, vc.getCalledChrCount(ATC)); - Assert.assertEquals(2, vc.getCalledChrCount(Allele.NO_CALL)); - } - - @Test - public void testAccessingRefGenotypes() { - List alleles1 = Arrays.asList(Aref, T); - List alleles2 = Arrays.asList(Aref); - List alleles3 = Arrays.asList(Aref, T); - for ( List alleles : Arrays.asList(alleles1, alleles2, alleles3)) { - Genotype g1 = GenotypeBuilder.create("AA1", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AA2", Arrays.asList(Aref, Aref)); - Genotype g3 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); - VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles) - .genotypes(g1, g2, g3).make(); - - Assert.assertTrue(vc.hasGenotypes()); - Assert.assertTrue(vc.isMonomorphicInSamples()); - Assert.assertFalse(vc.isPolymorphicInSamples()); - Assert.assertEquals(vc.getGenotypes().size(), 3); - - Assert.assertEquals(4, vc.getCalledChrCount()); - Assert.assertEquals(4, vc.getCalledChrCount(Aref)); - Assert.assertEquals(0, vc.getCalledChrCount(T)); - Assert.assertEquals(2, vc.getCalledChrCount(Allele.NO_CALL)); - } - } - - @Test - public void testFilters() { - List alleles = Arrays.asList(Aref, T); - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - - VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1, g2).make(); - - Assert.assertTrue(vc.isNotFiltered()); - Assert.assertFalse(vc.isFiltered()); - Assert.assertEquals(0, vc.getFilters().size()); - Assert.assertFalse(vc.filtersWereApplied()); - Assert.assertNull(vc.getFiltersMaybeNull()); - - vc = new VariantContextBuilder(vc).filters("BAD_SNP_BAD!").make(); - - Assert.assertFalse(vc.isNotFiltered()); - Assert.assertTrue(vc.isFiltered()); - Assert.assertEquals(1, vc.getFilters().size()); - Assert.assertTrue(vc.filtersWereApplied()); - Assert.assertNotNull(vc.getFiltersMaybeNull()); - - Set filters = new HashSet(Arrays.asList("BAD_SNP_BAD!", "REALLY_BAD_SNP", "CHRIST_THIS_IS_TERRIBLE")); - vc = new VariantContextBuilder(vc).filters(filters).make(); - - Assert.assertFalse(vc.isNotFiltered()); - Assert.assertTrue(vc.isFiltered()); - Assert.assertEquals(3, vc.getFilters().size()); - Assert.assertTrue(vc.filtersWereApplied()); - Assert.assertNotNull(vc.getFiltersMaybeNull()); - } - - @Test - public void testGetGenotypeCounts() { - List alleles = Arrays.asList(Aref, T); - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - Genotype g4 = GenotypeBuilder.create("A.", Arrays.asList(Aref, Allele.NO_CALL)); - Genotype g5 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); - - // we need to create a new VariantContext each time - VariantContext vc = new VariantContextBuilder("foo", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); - Assert.assertEquals(1, vc.getHetCount()); - vc = new VariantContextBuilder("foo", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); - Assert.assertEquals(1, vc.getHomRefCount()); - vc = new VariantContextBuilder("foo", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); - Assert.assertEquals(1, vc.getHomVarCount()); - vc = new VariantContextBuilder("foo", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); - Assert.assertEquals(1, vc.getMixedCount()); - vc = new VariantContextBuilder("foo", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4,g5).make(); - Assert.assertEquals(1, vc.getNoCallCount()); - } - - @Test - public void testVCFfromGenotypes() { - List alleles = Arrays.asList(Aref, T); - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - Genotype g4 = GenotypeBuilder.create("..", Arrays.asList(Allele.NO_CALL, Allele.NO_CALL)); - VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, alleles).genotypes(g1,g2,g3,g4).make(); - - VariantContext vc12 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName(), g2.getSampleName())), true); - VariantContext vc1 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName())), true); - VariantContext vc23 = vc.subContextFromSamples(new HashSet(Arrays.asList(g2.getSampleName(), g3.getSampleName())), true); - VariantContext vc4 = vc.subContextFromSamples(new HashSet(Arrays.asList(g4.getSampleName())), true); - VariantContext vc14 = vc.subContextFromSamples(new HashSet(Arrays.asList(g1.getSampleName(), g4.getSampleName())), true); - - Assert.assertTrue(vc12.isPolymorphicInSamples()); - Assert.assertTrue(vc23.isPolymorphicInSamples()); - Assert.assertTrue(vc1.isMonomorphicInSamples()); - Assert.assertTrue(vc4.isMonomorphicInSamples()); - Assert.assertTrue(vc14.isMonomorphicInSamples()); - - Assert.assertTrue(vc12.isSNP()); - Assert.assertTrue(vc12.isVariant()); - Assert.assertTrue(vc12.isBiallelic()); - - Assert.assertFalse(vc1.isSNP()); - Assert.assertFalse(vc1.isVariant()); - Assert.assertFalse(vc1.isBiallelic()); - - Assert.assertTrue(vc23.isSNP()); - Assert.assertTrue(vc23.isVariant()); - Assert.assertTrue(vc23.isBiallelic()); - - Assert.assertFalse(vc4.isSNP()); - Assert.assertFalse(vc4.isVariant()); - Assert.assertFalse(vc4.isBiallelic()); - - Assert.assertFalse(vc14.isSNP()); - Assert.assertFalse(vc14.isVariant()); - Assert.assertFalse(vc14.isBiallelic()); - - Assert.assertEquals(3, vc12.getCalledChrCount(Aref)); - Assert.assertEquals(1, vc23.getCalledChrCount(Aref)); - Assert.assertEquals(2, vc1.getCalledChrCount(Aref)); - Assert.assertEquals(0, vc4.getCalledChrCount(Aref)); - Assert.assertEquals(2, vc14.getCalledChrCount(Aref)); - } - - public void testGetGenotypeMethods() { - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - GenotypesContext gc = GenotypesContext.create(g1, g2, g3); - VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); - - Assert.assertEquals(vc.getGenotype("AA"), g1); - Assert.assertEquals(vc.getGenotype("AT"), g2); - Assert.assertEquals(vc.getGenotype("TT"), g3); - Assert.assertEquals(vc.getGenotype("CC"), null); - - Assert.assertEquals(vc.getGenotypes(), gc); - Assert.assertEquals(vc.getGenotypes(Arrays.asList("AA", "AT")), Arrays.asList(g1, g2)); - Assert.assertEquals(vc.getGenotypes(Arrays.asList("AA", "TT")), Arrays.asList(g1, g3)); - Assert.assertEquals(vc.getGenotypes(Arrays.asList("AA", "AT", "TT")), Arrays.asList(g1, g2, g3)); - Assert.assertEquals(vc.getGenotypes(Arrays.asList("AA", "AT", "CC")), Arrays.asList(g1, g2)); - - Assert.assertEquals(vc.getGenotype(0), g1); - Assert.assertEquals(vc.getGenotype(1), g2); - Assert.assertEquals(vc.getGenotype(2), g3); - } - - // -------------------------------------------------------------------------------- - // - // Test allele merging - // - // -------------------------------------------------------------------------------- - - private class GetAllelesTest extends TestDataProvider { - List alleles; - - private GetAllelesTest(String name, Allele... arg) { - super(GetAllelesTest.class, name); - this.alleles = Arrays.asList(arg); - } - - public String toString() { - return String.format("%s input=%s", super.toString(), alleles); - } - } - - @DataProvider(name = "getAlleles") - public Object[][] mergeAllelesData() { - new GetAllelesTest("A*", Aref); - new GetAllelesTest("A*/C", Aref, C); - new GetAllelesTest("A*/C/T", Aref, C, T); - new GetAllelesTest("A*/T/C", Aref, T, C); - new GetAllelesTest("A*/C/T/ATC", Aref, C, T, ATC); - new GetAllelesTest("A*/T/C/ATC", Aref, T, C, ATC); - new GetAllelesTest("A*/ATC/T/C", Aref, ATC, T, C); - - return GetAllelesTest.getTests(GetAllelesTest.class); - } - - @Test(dataProvider = "getAlleles") - public void testMergeAlleles(GetAllelesTest cfg) { - final List altAlleles = cfg.alleles.subList(1, cfg.alleles.size()); - final VariantContext vc = new VariantContextBuilder("test", snpLoc, snpLocStart, snpLocStop, cfg.alleles).make(); - - Assert.assertEquals(vc.getAlleles(), cfg.alleles, "VC alleles not the same as input alleles"); - Assert.assertEquals(vc.getNAlleles(), cfg.alleles.size(), "VC getNAlleles not the same as input alleles size"); - Assert.assertEquals(vc.getAlternateAlleles(), altAlleles, "VC alt alleles not the same as input alt alleles"); - - - for ( int i = 0; i < cfg.alleles.size(); i++ ) { - final Allele inputAllele = cfg.alleles.get(i); - - Assert.assertTrue(vc.hasAllele(inputAllele)); - if ( inputAllele.isReference() ) { - final Allele nonRefVersion = Allele.create(inputAllele.getBases(), false); - Assert.assertTrue(vc.hasAllele(nonRefVersion, true)); - Assert.assertFalse(vc.hasAllele(nonRefVersion, false)); - } - - Assert.assertEquals(inputAllele, vc.getAllele(inputAllele.getBaseString())); - Assert.assertEquals(inputAllele, vc.getAllele(inputAllele.getBases())); - - if ( i > 0 ) { // it's an alt allele - Assert.assertEquals(inputAllele, vc.getAlternateAllele(i-1)); - } - } - - final Allele missingAllele = Allele.create("AACCGGTT"); // does not exist - Assert.assertNull(vc.getAllele(missingAllele.getBases())); - Assert.assertFalse(vc.hasAllele(missingAllele)); - Assert.assertFalse(vc.hasAllele(missingAllele, true)); - } - - private class SitesAndGenotypesVC extends TestDataProvider { - VariantContext vc, copy; - - private SitesAndGenotypesVC(String name, VariantContext original) { - super(SitesAndGenotypesVC.class, name); - this.vc = original; - this.copy = new VariantContextBuilder(original).make(); - } - - public String toString() { - return String.format("%s input=%s", super.toString(), vc); - } - } - - @DataProvider(name = "SitesAndGenotypesVC") - public Object[][] MakeSitesAndGenotypesVCs() { - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - - VariantContext sites = new VariantContextBuilder("sites", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).make(); - VariantContext genotypes = new VariantContextBuilder(sites).source("genotypes").genotypes(g1, g2, g3).make(); - - new SitesAndGenotypesVC("sites", sites); - new SitesAndGenotypesVC("genotypes", genotypes); - - return SitesAndGenotypesVC.getTests(SitesAndGenotypesVC.class); - } - - // -------------------------------------------------------------------------------- - // - // Test modifying routines - // - // -------------------------------------------------------------------------------- - @Test(dataProvider = "SitesAndGenotypesVC") - public void runModifyVCTests(SitesAndGenotypesVC cfg) { - VariantContext modified = new VariantContextBuilder(cfg.vc).loc("chr2", 123, 123).make(); - Assert.assertEquals(modified.getChr(), "chr2"); - Assert.assertEquals(modified.getStart(), 123); - Assert.assertEquals(modified.getEnd(), 123); - - modified = new VariantContextBuilder(cfg.vc).id("newID").make(); - Assert.assertEquals(modified.getID(), "newID"); - - Set newFilters = Collections.singleton("newFilter"); - modified = new VariantContextBuilder(cfg.vc).filters(newFilters).make(); - Assert.assertEquals(modified.getFilters(), newFilters); - - // test the behavior when the builder's attribute object is null - modified = new VariantContextBuilder(modified).attributes(null).make(); - Assert.assertTrue(modified.getAttributes().isEmpty()); - modified = new VariantContextBuilder(modified).attributes(null).rmAttribute("AC").make(); - Assert.assertTrue(modified.getAttributes().isEmpty()); - modified = new VariantContextBuilder(modified).attributes(null).attribute("AC", 1).make(); - Assert.assertEquals(modified.getAttribute("AC"), 1); - - // test the behavior when the builder's attribute object is not initialized - modified = new VariantContextBuilder(modified.getSource(), modified.getChr(), modified.getStart(), modified.getEnd(), modified.getAlleles()).attribute("AC", 1).make(); - - // test normal attribute modification - modified = new VariantContextBuilder(cfg.vc).attribute("AC", 1).make(); - Assert.assertEquals(modified.getAttribute("AC"), 1); - modified = new VariantContextBuilder(modified).attribute("AC", 2).make(); - Assert.assertEquals(modified.getAttribute("AC"), 2); - - Genotype g1 = GenotypeBuilder.create("AA2", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT2", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT2", Arrays.asList(T, T)); - GenotypesContext gc = GenotypesContext.create(g1,g2,g3); - modified = new VariantContextBuilder(cfg.vc).genotypes(gc).make(); - Assert.assertEquals(modified.getGenotypes(), gc); - modified = new VariantContextBuilder(cfg.vc).noGenotypes().make(); - Assert.assertTrue(modified.getGenotypes().isEmpty()); - - // test that original hasn't changed - Assert.assertEquals(cfg.vc.getChr(), cfg.copy.getChr()); - Assert.assertEquals(cfg.vc.getStart(), cfg.copy.getStart()); - Assert.assertEquals(cfg.vc.getEnd(), cfg.copy.getEnd()); - Assert.assertEquals(cfg.vc.getAlleles(), cfg.copy.getAlleles()); - Assert.assertEquals(cfg.vc.getAttributes(), cfg.copy.getAttributes()); - Assert.assertEquals(cfg.vc.getID(), cfg.copy.getID()); - Assert.assertEquals(cfg.vc.getGenotypes(), cfg.copy.getGenotypes()); - Assert.assertEquals(cfg.vc.getLog10PError(), cfg.copy.getLog10PError()); - Assert.assertEquals(cfg.vc.getFilters(), cfg.copy.getFilters()); - } - - // -------------------------------------------------------------------------------- - // - // Test subcontext - // - // -------------------------------------------------------------------------------- - private class SubContextTest extends TestDataProvider { - Set samples; - boolean updateAlleles; - - private SubContextTest(Collection samples, boolean updateAlleles) { - super(SubContextTest.class); - this.samples = new HashSet(samples); - this.updateAlleles = updateAlleles; - } - - public String toString() { - return String.format("%s samples=%s updateAlleles=%b", super.toString(), samples, updateAlleles); - } - } - - @DataProvider(name = "SubContextTest") - public Object[][] MakeSubContextTest() { - for ( boolean updateAlleles : Arrays.asList(true, false)) { - new SubContextTest(Collections.emptySet(), updateAlleles); - new SubContextTest(Collections.singleton("MISSING"), updateAlleles); - new SubContextTest(Collections.singleton("AA"), updateAlleles); - new SubContextTest(Collections.singleton("AT"), updateAlleles); - new SubContextTest(Collections.singleton("TT"), updateAlleles); - new SubContextTest(Arrays.asList("AA", "AT"), updateAlleles); - new SubContextTest(Arrays.asList("AA", "AT", "TT"), updateAlleles); - new SubContextTest(Arrays.asList("AA", "AT", "MISSING"), updateAlleles); - new SubContextTest(Arrays.asList("AA", "AT", "TT", "MISSING"), updateAlleles); - } - - return SubContextTest.getTests(SubContextTest.class); - } - - @Test(dataProvider = "SubContextTest") - public void runSubContextTest(SubContextTest cfg) { - Genotype g1 = GenotypeBuilder.create("AA", Arrays.asList(Aref, Aref)); - Genotype g2 = GenotypeBuilder.create("AT", Arrays.asList(Aref, T)); - Genotype g3 = GenotypeBuilder.create("TT", Arrays.asList(T, T)); - - GenotypesContext gc = GenotypesContext.create(g1, g2, g3); - VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); - VariantContext sub = vc.subContextFromSamples(cfg.samples, cfg.updateAlleles); - - // unchanged attributes should be the same - Assert.assertEquals(sub.getChr(), vc.getChr()); - Assert.assertEquals(sub.getStart(), vc.getStart()); - Assert.assertEquals(sub.getEnd(), vc.getEnd()); - Assert.assertEquals(sub.getLog10PError(), vc.getLog10PError()); - Assert.assertEquals(sub.getFilters(), vc.getFilters()); - Assert.assertEquals(sub.getID(), vc.getID()); - Assert.assertEquals(sub.getAttributes(), vc.getAttributes()); - - Set expectedGenotypes = new HashSet(); - if ( cfg.samples.contains(g1.getSampleName()) ) expectedGenotypes.add(g1); - if ( cfg.samples.contains(g2.getSampleName()) ) expectedGenotypes.add(g2); - if ( cfg.samples.contains(g3.getSampleName()) ) expectedGenotypes.add(g3); - GenotypesContext expectedGC = GenotypesContext.copy(expectedGenotypes); - - // these values depend on the results of sub - if ( cfg.updateAlleles ) { - // do the work to see what alleles should be here, and which not - Set alleles = new HashSet(); - for ( final Genotype g : expectedGC ) alleles.addAll(g.getAlleles()); - if ( ! alleles.contains(Aref) ) alleles.add(Aref); // always have the reference - Assert.assertEquals(new HashSet(sub.getAlleles()), alleles); - } else { - // not updating alleles -- should be the same - Assert.assertEquals(sub.getAlleles(), vc.getAlleles()); - } - - // same sample names => success - Assert.assertEquals(sub.getGenotypes().getSampleNames(), expectedGC.getSampleNames()); - } - - // -------------------------------------------------------------------------------- - // - // Test sample name functions - // - // -------------------------------------------------------------------------------- - private class SampleNamesTest extends TestDataProvider { - List sampleNames; - List sampleNamesInOrder; - - private SampleNamesTest(List sampleNames, List sampleNamesInOrder) { - super(SampleNamesTest.class); - this.sampleNamesInOrder = sampleNamesInOrder; - this.sampleNames = sampleNames; - } - - public String toString() { - return String.format("%s samples=%s order=%s", super.toString(), sampleNames, sampleNamesInOrder); - } - } - - @DataProvider(name = "SampleNamesTest") - public Object[][] MakeSampleNamesTest() { - new SampleNamesTest(Arrays.asList("1"), Arrays.asList("1")); - new SampleNamesTest(Arrays.asList("2", "1"), Arrays.asList("1", "2")); - new SampleNamesTest(Arrays.asList("1", "2"), Arrays.asList("1", "2")); - new SampleNamesTest(Arrays.asList("1", "2", "3"), Arrays.asList("1", "2", "3")); - new SampleNamesTest(Arrays.asList("2", "1", "3"), Arrays.asList("1", "2", "3")); - new SampleNamesTest(Arrays.asList("2", "3", "1"), Arrays.asList("1", "2", "3")); - new SampleNamesTest(Arrays.asList("3", "1", "2"), Arrays.asList("1", "2", "3")); - new SampleNamesTest(Arrays.asList("3", "2", "1"), Arrays.asList("1", "2", "3")); - new SampleNamesTest(Arrays.asList("NA2", "NA1"), Arrays.asList("NA1", "NA2")); - return SampleNamesTest.getTests(SampleNamesTest.class); - } - - private final static void assertGenotypesAreInOrder(Iterable gIt, List names) { - int i = 0; - for ( final Genotype g : gIt ) { - Assert.assertEquals(g.getSampleName(), names.get(i), "Unexpected genotype ordering"); - i++; - } - } - - - @Test(dataProvider = "SampleNamesTest") - public void runSampleNamesTest(SampleNamesTest cfg) { - GenotypesContext gc = GenotypesContext.create(cfg.sampleNames.size()); - for ( final String name : cfg.sampleNames ) { - gc.add(GenotypeBuilder.create(name, Arrays.asList(Aref, T))); - } - - VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); - - // same sample names => success - Assert.assertEquals(vc.getSampleNames(), new HashSet(cfg.sampleNames), "vc.getSampleNames() = " + vc.getSampleNames()); - Assert.assertEquals(vc.getSampleNamesOrderedByName(), cfg.sampleNamesInOrder, "vc.getSampleNamesOrderedByName() = " + vc.getSampleNamesOrderedByName()); - - assertGenotypesAreInOrder(vc.getGenotypesOrderedByName(), cfg.sampleNamesInOrder); - assertGenotypesAreInOrder(vc.getGenotypesOrderedBy(cfg.sampleNames), cfg.sampleNames); - } - - @Test - public void testGenotypeCounting() { - Genotype noCall = GenotypeBuilder.create("nocall", Arrays.asList(Allele.NO_CALL)); - Genotype mixed = GenotypeBuilder.create("mixed", Arrays.asList(Aref, Allele.NO_CALL)); - Genotype homRef = GenotypeBuilder.create("homRef", Arrays.asList(Aref, Aref)); - Genotype het = GenotypeBuilder.create("het", Arrays.asList(Aref, T)); - Genotype homVar = GenotypeBuilder.create("homVar", Arrays.asList(T, T)); - - List allGenotypes = Arrays.asList(noCall, mixed, homRef, het, homVar); - final int nCycles = allGenotypes.size() * 10; - - for ( int i = 0; i < nCycles; i++ ) { - int nNoCall = 0, nNoCallAlleles = 0, nA = 0, nT = 0, nMixed = 0, nHomRef = 0, nHet = 0, nHomVar = 0; - int nSamples = 0; - GenotypesContext gc = GenotypesContext.create(); - for ( int j = 0; j < i; j++ ) { - nSamples++; - Genotype g = allGenotypes.get(j % allGenotypes.size()); - final String name = String.format("%s_%d%d", g.getSampleName(), i, j); - gc.add(GenotypeBuilder.create(name, g.getAlleles())); - switch ( g.getType() ) { - case NO_CALL: nNoCall++; nNoCallAlleles++; break; - case HOM_REF: nA += 2; nHomRef++; break; - case HET: nA++; nT++; nHet++; break; - case HOM_VAR: nT += 2; nHomVar++; break; - case MIXED: nA++; nNoCallAlleles++; nMixed++; break; - default: throw new RuntimeException("Unexpected genotype type " + g.getType()); - } - - } - - VariantContext vc = new VariantContextBuilder("genotypes", snpLoc, snpLocStart, snpLocStop, Arrays.asList(Aref, T)).genotypes(gc).make(); - Assert.assertEquals(vc.getNSamples(), nSamples); - if ( nSamples > 0 ) { - Assert.assertEquals(vc.isPolymorphicInSamples(), nT > 0); - Assert.assertEquals(vc.isMonomorphicInSamples(), nT == 0); - } - Assert.assertEquals(vc.getCalledChrCount(), nA + nT); - - Assert.assertEquals(vc.getCalledChrCount(Allele.NO_CALL), nNoCallAlleles); - Assert.assertEquals(vc.getCalledChrCount(Aref), nA); - Assert.assertEquals(vc.getCalledChrCount(T), nT); - - Assert.assertEquals(vc.getNoCallCount(), nNoCall); - Assert.assertEquals(vc.getHomRefCount(), nHomRef); - Assert.assertEquals(vc.getHetCount(), nHet); - Assert.assertEquals(vc.getHomVarCount(), nHomVar); - Assert.assertEquals(vc.getMixedCount(), nMixed); - } - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/VariantJEXLContextUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/VariantJEXLContextUnitTest.java deleted file mode 100644 index 8d2569771..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/VariantJEXLContextUnitTest.java +++ /dev/null @@ -1,130 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext; - -import org.broadinstitute.variant.VariantBaseTest; -import org.testng.Assert; -import org.testng.annotations.BeforeClass; -import org.testng.annotations.BeforeMethod; -import org.testng.annotations.Test; - -import java.util.Arrays; -import java.util.List; -import java.util.Map; - - -/** - * - * @author aaron - * - * Class VariantJEXLContextUnitTest - * - * Test out parts of the VariantJEXLContext - */ -public class VariantJEXLContextUnitTest extends VariantBaseTest { - - private static String expression = "QUAL > 500.0"; - private static VariantContextUtils.JexlVCMatchExp exp; - - Allele A, Aref, T, Tref; - - Allele ATC, ATCref; - // A [ref] / T at 10 - - // - / ATC [ref] from 20-23 - - @BeforeClass - public void beforeClass() { - try { - exp = new VariantContextUtils.JexlVCMatchExp("name", VariantContextUtils.engine.createExpression(expression)); - } catch (Exception e) { - Assert.fail("Unable to create expression" + e.getMessage()); - } - } - - @BeforeMethod - public void before() { - A = Allele.create("A"); - Aref = Allele.create("A", true); - T = Allele.create("T"); - Tref = Allele.create("T", true); - - ATC = Allele.create("ATC"); - ATCref = Allele.create("ATC", true); - } - - - @Test - public void testGetValue() { - Map map = getVarContext(); - - // make sure the context has a value - Assert.assertTrue(!map.isEmpty()); - Assert.assertEquals(map.size(), 1); - - // eval our known expression - Assert.assertTrue(!map.get(exp)); - } - - @Test(expectedExceptions=UnsupportedOperationException.class) - public void testContainsValue() { - Map map = getVarContext(); - - map.containsValue(exp); - } - - @Test(expectedExceptions=UnsupportedOperationException.class) - public void testRemove() { - Map map = getVarContext(); - - map.remove(exp); - } - - @Test(expectedExceptions=UnsupportedOperationException.class) - public void testEntrySet() { - Map map = getVarContext(); - - map.entrySet(); - } - - @Test(expectedExceptions=UnsupportedOperationException.class) - public void testClear() { - Map map = getVarContext(); - - map.clear(); - } - - /** - * helper method - * @return a VariantJEXLContext - */ - private JEXLMap getVarContext() { - List alleles = Arrays.asList(Aref, T); - - VariantContext vc = new VariantContextBuilder("test", "chr1", 10, 10, alleles).make(); - return new JEXLMap(Arrays.asList(exp),vc); - } -} diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/writer/VCFWriterUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/writer/VCFWriterUnitTest.java deleted file mode 100644 index bbfac11cb..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/writer/VCFWriterUnitTest.java +++ /dev/null @@ -1,200 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - -import net.sf.picard.reference.IndexedFastaSequenceFile; -import org.broad.tribble.AbstractFeatureReader; -import org.broad.tribble.FeatureReader; -import org.broad.tribble.Tribble; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.vcf.VCFCodec; -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.vcf.VCFHeaderLine; -import org.broadinstitute.variant.vcf.VCFHeaderVersion; -import org.broadinstitute.variant.variantcontext.*; -import org.testng.Assert; -import org.testng.annotations.BeforeClass; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.io.File; -import java.io.FileNotFoundException; -import java.io.IOException; -import java.util.*; - - -/** - * @author aaron - *

    - * Class VCFWriterUnitTest - *

    - * This class tests out the ability of the VCF writer to correctly write VCF files - */ -public class VCFWriterUnitTest extends VariantBaseTest { - private Set metaData = new HashSet(); - private Set additionalColumns = new HashSet(); - private File fakeVCFFile = new File("FAKEVCFFILEFORTESTING.vcf"); - private IndexedFastaSequenceFile seq; - - @BeforeClass - public void beforeTests() { - File referenceFile = new File(hg19Reference); - try { - seq = new IndexedFastaSequenceFile(referenceFile); - } - catch(FileNotFoundException ex) { - throw new RuntimeException(referenceFile.getAbsolutePath(), ex); - } - } - - /** test, using the writer and reader, that we can output and input a VCF file without problems */ - @Test - public void testBasicWriteAndRead() { - VCFHeader header = createFakeHeader(metaData,additionalColumns); - final EnumSet options = EnumSet.of(Options.ALLOW_MISSING_FIELDS_IN_HEADER); - VariantContextWriter writer = VariantContextWriterFactory.create(fakeVCFFile, seq.getSequenceDictionary(), options); - writer.writeHeader(header); - writer.add(createVC(header)); - writer.add(createVC(header)); - writer.close(); - VCFCodec codec = new VCFCodec(); - VCFHeader headerFromFile = null; - FeatureReader reader = AbstractFeatureReader.getFeatureReader(fakeVCFFile.getAbsolutePath(), codec, false); - headerFromFile = (VCFHeader)reader.getHeader(); - - int counter = 0; - - // validate what we're reading in - validateHeader(headerFromFile); - - try { - Iterator it = reader.iterator(); - while(it.hasNext()) { - VariantContext vc = it.next(); - counter++; - } - Assert.assertEquals(counter, 2); - Tribble.indexFile(fakeVCFFile).delete(); - fakeVCFFile.delete(); - } - catch (IOException e ) { - throw new RuntimeException(e.getMessage()); - } - - } - - /** - * create a fake header of known quantity - * @param metaData the header lines - * @param additionalColumns the additional column names - * @return a fake VCF header - */ - public static VCFHeader createFakeHeader(Set metaData, Set additionalColumns) { - metaData.add(new VCFHeaderLine(VCFHeaderVersion.VCF4_0.getFormatString(), VCFHeaderVersion.VCF4_0.getVersionString())); - metaData.add(new VCFHeaderLine("two", "2")); - additionalColumns.add("extra1"); - additionalColumns.add("extra2"); - return new VCFHeader(metaData, additionalColumns); - } - - /** - * create a fake VCF record - * @param header the VCF header - * @return a VCFRecord - */ - private VariantContext createVC(VCFHeader header) { - List alleles = new ArrayList(); - Set filters = null; - Map attributes = new HashMap(); - GenotypesContext genotypes = GenotypesContext.create(header.getGenotypeSamples().size()); - - alleles.add(Allele.create("A",true)); - alleles.add(Allele.create("ACC",false)); - - attributes.put("DP","50"); - for (String name : header.getGenotypeSamples()) { - Genotype gt = new GenotypeBuilder(name,alleles.subList(1,2)).GQ(0).attribute("BB", "1").phased(true).make(); - genotypes.add(gt); - } - return new VariantContextBuilder("RANDOM", "chr1", 1, 1, alleles) - .genotypes(genotypes).attributes(attributes).make(); - } - - - /** - * validate a VCF header - * @param header the header to validate - */ - public void validateHeader(VCFHeader header) { - // check the fields - int index = 0; - for (VCFHeader.HEADER_FIELDS field : header.getHeaderFields()) { - Assert.assertEquals(VCFHeader.HEADER_FIELDS.values()[index], field); - index++; - } - Assert.assertEquals(header.getMetaDataInSortedOrder().size(), metaData.size()); - index = 0; - for (String key : header.getGenotypeSamples()) { - Assert.assertTrue(additionalColumns.contains(key)); - index++; - } - Assert.assertEquals(index, additionalColumns.size()); - } - - @DataProvider(name = "VCFWriterDoubleFormatTestData") - public Object[][] makeVCFWriterDoubleFormatTestData() { - List tests = new ArrayList(); - tests.add(new Object[]{1.0, "1.00"}); - tests.add(new Object[]{10.1, "10.10"}); - tests.add(new Object[]{10.01, "10.01"}); - tests.add(new Object[]{10.012, "10.01"}); - tests.add(new Object[]{10.015, "10.02"}); - tests.add(new Object[]{0.0, "0.00"}); - tests.add(new Object[]{0.5, "0.500"}); - tests.add(new Object[]{0.55, "0.550"}); - tests.add(new Object[]{0.555, "0.555"}); - tests.add(new Object[]{0.5555, "0.556"}); - tests.add(new Object[]{0.1, "0.100"}); - tests.add(new Object[]{0.050, "0.050"}); - tests.add(new Object[]{0.010, "0.010"}); - tests.add(new Object[]{0.012, "0.012"}); - tests.add(new Object[]{0.0012, "1.200e-03"}); - tests.add(new Object[]{1.2e-4, "1.200e-04"}); - tests.add(new Object[]{1.21e-4, "1.210e-04"}); - tests.add(new Object[]{1.212e-5, "1.212e-05"}); - tests.add(new Object[]{1.2123e-6, "1.212e-06"}); - tests.add(new Object[]{Double.POSITIVE_INFINITY, "Infinity"}); - tests.add(new Object[]{Double.NEGATIVE_INFINITY, "-Infinity"}); - tests.add(new Object[]{Double.NaN, "NaN"}); - return tests.toArray(new Object[][]{}); - } - - @Test(dataProvider = "VCFWriterDoubleFormatTestData") - public void testVCFWriterDoubleFormatTestData(final double d, final String expected) { - Assert.assertEquals(VCFWriter.formatVCFDouble(d), expected, "Failed to pretty print double in VCFWriter"); - } -} - diff --git a/public/java/test/org/broadinstitute/variant/variantcontext/writer/VariantContextWritersUnitTest.java b/public/java/test/org/broadinstitute/variant/variantcontext/writer/VariantContextWritersUnitTest.java deleted file mode 100644 index 9e6541bfa..000000000 --- a/public/java/test/org/broadinstitute/variant/variantcontext/writer/VariantContextWritersUnitTest.java +++ /dev/null @@ -1,146 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.variantcontext.writer; - - -// the imports for unit testing. - - -import net.sf.picard.reference.IndexedFastaSequenceFile; -import net.sf.samtools.SAMSequenceDictionary; -import org.broad.tribble.FeatureCodec; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.bcf2.BCF2Codec; -import org.broadinstitute.variant.vcf.VCFCodec; -import org.broadinstitute.variant.vcf.VCFHeader; -import org.broadinstitute.variant.variantcontext.VariantContext; -import org.broadinstitute.variant.variantcontext.VariantContextTestProvider; -import org.testng.annotations.BeforeSuite; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; - -import java.io.File; -import java.io.IOException; -import java.util.ArrayList; -import java.util.EnumSet; -import java.util.List; - - -public class VariantContextWritersUnitTest extends VariantBaseTest { - private SAMSequenceDictionary dictionary; - - @BeforeSuite - public void before() throws IOException { - final File source = new File(b37KGReference); - IndexedFastaSequenceFile seq = new IndexedFastaSequenceFile(source); - dictionary = seq.getSequenceDictionary(); - VariantContextTestProvider.initializeTests(); - } - - @DataProvider(name = "VariantContextTest_SingleContexts") - public Object[][] SiteVCsTest() { - List tests = new ArrayList(); - for ( VariantContextTestProvider.VariantContextTestData testData : VariantContextTestProvider.generateSiteTests() ) - tests.add(new Object[]{testData}); - return tests.toArray(new Object[][]{}); - } - - // -------------------------------------------------------------------------------- - // - // Test BCF2 reader / writer - // - // -------------------------------------------------------------------------------- - - @Test(dataProvider = "VariantContextTest_SingleContexts") - public void testBCF2WriterReader(final VariantContextTestProvider.VariantContextTestData testData) throws IOException { - VariantContextTestProvider.testReaderWriter(new BCFIOTester(), testData); - } - - @Test(dataProvider = "VariantContextTest_SingleContexts") - public void testBCF2WriterReaderMissingGenotypes(final VariantContextTestProvider.VariantContextTestData testData) throws IOException { - VariantContextTestProvider.testReaderWriterWithMissingGenotypes(new BCFIOTester(), testData); - } - - private class BCFIOTester extends VariantContextTestProvider.VariantContextIOTest { - @Override - public String getExtension() { - return ".bcf"; - } - - @Override - public FeatureCodec makeCodec() { - return new BCF2Codec(); - } - - @Override - public VariantContextWriter makeWriter(final File file, final EnumSet baseOptions) { - return VariantContextWriterFactory.create(file, dictionary, baseOptions); - } - } - - // -------------------------------------------------------------------------------- - // - // Test VCF reader / writer - // - // -------------------------------------------------------------------------------- - - @Test(enabled = true, dataProvider = "VariantContextTest_SingleContexts") - public void testVCF4WriterReader(final VariantContextTestProvider.VariantContextTestData testData) throws IOException { - VariantContextTestProvider.testReaderWriter(new VCFIOTester(), testData); - } - - @Test(enabled = true, dataProvider = "VariantContextTest_SingleContexts") - public void testVCF4WriterReaderMissingGenotypes(final VariantContextTestProvider.VariantContextTestData testData) throws IOException { - VariantContextTestProvider.testReaderWriterWithMissingGenotypes(new VCFIOTester(), testData); - } - - private class VCFIOTester extends VariantContextTestProvider.VariantContextIOTest { - @Override - public String getExtension() { - return ".vcf"; - } - - @Override - public List postprocess(final VCFHeader header, final List vcsAfterIO) { - final List fullyDecoded = new ArrayList(vcsAfterIO.size()); - - for ( final VariantContext withStrings : vcsAfterIO ) - fullyDecoded.add(withStrings.fullyDecode(header, false)); - - return fullyDecoded; - } - - @Override - public FeatureCodec makeCodec() { - return new VCFCodec(); - } - - @Override - public VariantContextWriter makeWriter(final File file, final EnumSet baseOptions) { - return VariantContextWriterFactory.create(file, dictionary, baseOptions); - } - } -} \ No newline at end of file diff --git a/public/java/test/org/broadinstitute/variant/vcf/IndexFactoryUnitTest.java b/public/java/test/org/broadinstitute/variant/vcf/IndexFactoryUnitTest.java deleted file mode 100644 index 6292baae3..000000000 --- a/public/java/test/org/broadinstitute/variant/vcf/IndexFactoryUnitTest.java +++ /dev/null @@ -1,100 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import net.sf.picard.reference.IndexedFastaSequenceFile; -import net.sf.samtools.SAMSequenceDictionary; -import org.broad.tribble.AbstractFeatureReader; -import org.broad.tribble.CloseableTribbleIterator; -import org.broad.tribble.Tribble; -import org.broad.tribble.index.Index; -import org.broad.tribble.index.IndexFactory; -import org.broadinstitute.variant.VariantBaseTest; -import org.broadinstitute.variant.variantcontext.VariantContext; -import org.broadinstitute.variant.variantcontext.writer.Options; -import org.broadinstitute.variant.variantcontext.writer.VariantContextWriter; -import org.broadinstitute.variant.variantcontext.writer.VariantContextWriterFactory; -import org.testng.annotations.BeforeTest; -import org.testng.annotations.Test; - -import java.io.File; -import java.io.FileNotFoundException; -import java.io.IOException; -import java.util.Arrays; -import java.util.EnumSet; - -/** - * tests out the various functions in the index factory class - */ -public class IndexFactoryUnitTest extends VariantBaseTest { - - File inputFile = new File(variantTestDataRoot + "HiSeq.10000.vcf"); - File outputFile = new File(variantTestDataRoot + "onTheFlyOutputTest.vcf"); - File outputFileIndex = Tribble.indexFile(outputFile); - - private SAMSequenceDictionary dict; - - @BeforeTest - public void setup() { - try { - dict = new IndexedFastaSequenceFile(new File(b37KGReference)).getSequenceDictionary(); - } - catch(FileNotFoundException ex) { - throw new RuntimeException(b37KGReference,ex); - } - } - - // - // test out scoring the indexes - // - @Test - public void testOnTheFlyIndexing1() throws IOException { - Index indexFromInputFile = IndexFactory.createDynamicIndex(inputFile, new VCFCodec()); - if ( outputFileIndex.exists() ) { - System.err.println("Deleting " + outputFileIndex); - outputFileIndex.delete(); - } - - for ( int maxRecords : Arrays.asList(0, 1, 10, 100, 1000, -1)) { - AbstractFeatureReader source = AbstractFeatureReader.getFeatureReader(inputFile.getAbsolutePath(), new VCFCodec(), indexFromInputFile); - - int counter = 0; - final EnumSet options = EnumSet.of(Options.ALLOW_MISSING_FIELDS_IN_HEADER); - VariantContextWriter writer = VariantContextWriterFactory.create(outputFile, dict, options); - writer.writeHeader((VCFHeader)source.getHeader()); - CloseableTribbleIterator it = source.iterator(); - while (it.hasNext() && (counter++ < maxRecords || maxRecords == -1) ) { - VariantContext vc = it.next(); - writer.add(vc); - } - writer.close(); - - // test that the input index is the same as the one created from the identical input file - // test that the dynamic index is the same as the output index, which is equal to the input index - //WalkerTest.assertOnDiskIndexEqualToNewlyCreatedIndex(outputFileIndex, "unittest", outputFile); - } - } -} diff --git a/public/java/test/org/broadinstitute/variant/vcf/VCFHeaderUnitTest.java b/public/java/test/org/broadinstitute/variant/vcf/VCFHeaderUnitTest.java deleted file mode 100644 index 7d6b11953..000000000 --- a/public/java/test/org/broadinstitute/variant/vcf/VCFHeaderUnitTest.java +++ /dev/null @@ -1,171 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broad.tribble.readers.AsciiLineReader; -import org.broad.tribble.readers.PositionalBufferedStream; -import org.broadinstitute.variant.VariantBaseTest; -import org.testng.Assert; - -import org.testng.annotations.Test; - -import java.io.*; -import java.math.BigInteger; -import java.security.MessageDigest; -import java.security.NoSuchAlgorithmException; - -/** - * Created by IntelliJ IDEA. - * User: aaron - * Date: Jun 30, 2010 - * Time: 3:32:08 PM - * To change this template use File | Settings | File Templates. - */ -public class VCFHeaderUnitTest extends VariantBaseTest { - - private VCFHeader createHeader(String headerStr) { - VCFCodec codec = new VCFCodec(); - VCFHeader header = (VCFHeader)codec.readHeader(new AsciiLineReader(new PositionalBufferedStream(new StringBufferInputStream(headerStr)))); - Assert.assertEquals(header.getMetaDataInInputOrder().size(), VCF4headerStringCount); - return header; - } - - @Test - public void testVCF4ToVCF4() { - VCFHeader header = createHeader(VCF4headerStrings); - checkMD5ofHeaderFile(header, "f05a57053a0c6a5bac15dba566f7f7ff"); - } - - @Test - public void testVCF4ToVCF4_alternate() { - VCFHeader header = createHeader(VCF4headerStrings_with_negativeOne); - checkMD5ofHeaderFile(header, "b1d71cc94261053131f8d239d65a8c9f"); - } - - /** - * a little utility function for all tests to md5sum a file - * Shameless taken from: - * - * http://www.javalobby.org/java/forums/t84420.html - * - * @param file the file - * @return a string - */ - private static String md5SumFile(File file) { - MessageDigest digest; - try { - digest = MessageDigest.getInstance("MD5"); - } catch (NoSuchAlgorithmException e) { - throw new RuntimeException("Unable to find MD5 digest"); - } - InputStream is; - try { - is = new FileInputStream(file); - } catch (FileNotFoundException e) { - throw new RuntimeException("Unable to open file " + file); - } - byte[] buffer = new byte[8192]; - int read; - try { - while ((read = is.read(buffer)) > 0) { - digest.update(buffer, 0, read); - } - byte[] md5sum = digest.digest(); - BigInteger bigInt = new BigInteger(1, md5sum); - return bigInt.toString(16); - - } - catch (IOException e) { - throw new RuntimeException("Unable to process file for MD5", e); - } - finally { - try { - is.close(); - } - catch (IOException e) { - throw new RuntimeException("Unable to close input stream for MD5 calculation", e); - } - } - } - - private void checkMD5ofHeaderFile(VCFHeader header, String md5sum) { - File myTempFile = null; - PrintWriter pw = null; - try { - myTempFile = File.createTempFile("VCFHeader","vcf"); - myTempFile.deleteOnExit(); - pw = new PrintWriter(myTempFile); - } catch (IOException e) { - Assert.fail("Unable to make a temp file!"); - } - for (VCFHeaderLine line : header.getMetaDataInSortedOrder()) - pw.println(line); - pw.close(); - Assert.assertEquals(md5SumFile(myTempFile), md5sum); - } - - public static int VCF4headerStringCount = 16; - - public static String VCF4headerStrings = - "##fileformat=VCFv4.0\n"+ - "##filedate=2010-06-21\n"+ - "##reference=NCBI36\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##FILTER=\n"+ - "##FORMAT=\n"+ - "##FORMAT=\n"+ - "##FORMAT=\n"+ - "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\n"; - - - public static String VCF4headerStrings_with_negativeOne = - "##fileformat=VCFv4.0\n"+ - "##filedate=2010-06-21\n"+ - "##reference=NCBI36\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##INFO=\n"+ - "##FILTER=\n"+ - "##FORMAT=\n"+ - "##FORMAT=\n"+ - "##FORMAT=\n"+ - "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\n"; - -} diff --git a/public/java/test/org/broadinstitute/variant/vcf/VCFStandardHeaderLinesUnitTest.java b/public/java/test/org/broadinstitute/variant/vcf/VCFStandardHeaderLinesUnitTest.java deleted file mode 100644 index 02090c9cd..000000000 --- a/public/java/test/org/broadinstitute/variant/vcf/VCFStandardHeaderLinesUnitTest.java +++ /dev/null @@ -1,149 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.variant.vcf; - -import org.broadinstitute.variant.VariantBaseTest; -import org.testng.annotations.DataProvider; -import org.testng.annotations.Test; -import org.testng.Assert; - -import java.util.ArrayList; -import java.util.Collections; -import java.util.List; - -/** - * Created by IntelliJ IDEA. - * User: aaron - * Date: Jun 30, 2010 - * Time: 3:32:08 PM - * To change this template use File | Settings | File Templates. - */ -public class VCFStandardHeaderLinesUnitTest extends VariantBaseTest { - @DataProvider(name = "getStandardLines") - public Object[][] makeGetStandardLines() { - List tests = new ArrayList(); - - // info - tests.add(new Object[]{"AC", "info", true}); - tests.add(new Object[]{"AN", "info", true}); - tests.add(new Object[]{"AF", "info", true}); - tests.add(new Object[]{"DP", "info", true}); - tests.add(new Object[]{"DB", "info", true}); - tests.add(new Object[]{"END", "info", true}); - - // format - tests.add(new Object[]{"GT", "format", true}); - tests.add(new Object[]{"GQ", "format", true}); - tests.add(new Object[]{"DP", "format", true}); - tests.add(new Object[]{"AD", "format", true}); - tests.add(new Object[]{"PL", "format", true}); - - tests.add(new Object[]{"NOT_STANDARD", "info", false}); - tests.add(new Object[]{"NOT_STANDARD", "format", false}); - - return tests.toArray(new Object[][]{}); - } - - - @Test(dataProvider = "getStandardLines") - public void getStandardLines(final String key, final String type, final boolean expectedToBeStandard) { - VCFCompoundHeaderLine line = null; - if ( type.equals("info") ) - line = VCFStandardHeaderLines.getInfoLine(key, false); - else if ( type.equals("format") ) - line = VCFStandardHeaderLines.getFormatLine(key, false); - else - throw new IllegalArgumentException("Unexpected type in getStandardLines " + type); - - if ( expectedToBeStandard ) { - Assert.assertNotNull(line); - Assert.assertEquals(line.getID(), key); - } else - Assert.assertNull(line); - } - - private class RepairHeaderTest extends TestDataProvider { - final VCFCompoundHeaderLine original, expectedResult; - - private RepairHeaderTest(final VCFCompoundHeaderLine original) { - this(original, original); - } - - private RepairHeaderTest(final VCFCompoundHeaderLine original, final VCFCompoundHeaderLine expectedResult) { - super(RepairHeaderTest.class); - this.original = original; - this.expectedResult = expectedResult; - } - } - - @DataProvider(name = "RepairHeaderTest") - public Object[][] makeRepairHeaderTest() { - final VCFInfoHeaderLine standardAC = VCFStandardHeaderLines.getInfoLine("AC"); - final VCFInfoHeaderLine goodAC = new VCFInfoHeaderLine("AC", VCFHeaderLineCount.A, VCFHeaderLineType.Integer, "x"); - - final VCFFormatHeaderLine standardGT = VCFStandardHeaderLines.getFormatLine("GT"); - final VCFFormatHeaderLine goodGT = new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.String, "x"); - - new RepairHeaderTest( standardGT, standardGT); - new RepairHeaderTest( goodGT, goodGT ); - new RepairHeaderTest( new VCFFormatHeaderLine("GT", 2, VCFHeaderLineType.String, "x"), standardGT); - new RepairHeaderTest( new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.Integer, "x"), standardGT); - new RepairHeaderTest( new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.Float, "x"), standardGT); - new RepairHeaderTest( new VCFFormatHeaderLine("GT", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Float, "x"), standardGT); - new RepairHeaderTest( new VCFFormatHeaderLine("GT", VCFHeaderLineCount.G, VCFHeaderLineType.String, "x"), standardGT); - new RepairHeaderTest( new VCFFormatHeaderLine("GT", VCFHeaderLineCount.A, VCFHeaderLineType.String, "x"), standardGT); - - new RepairHeaderTest( standardAC, standardAC); - new RepairHeaderTest( goodAC, goodAC ); - new RepairHeaderTest( new VCFInfoHeaderLine("AC", 1, VCFHeaderLineType.Integer, "x"), standardAC); - new RepairHeaderTest( new VCFInfoHeaderLine("AC", VCFHeaderLineCount.G, VCFHeaderLineType.Integer, "x"), standardAC); - new RepairHeaderTest( new VCFInfoHeaderLine("AC", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.Integer, "x"), standardAC); - new RepairHeaderTest( new VCFInfoHeaderLine("AC", 1, VCFHeaderLineType.Float, "x"), standardAC); - new RepairHeaderTest( new VCFInfoHeaderLine("AC", 1, VCFHeaderLineType.String, "x"), standardAC); - new RepairHeaderTest( new VCFInfoHeaderLine("AC", 0, VCFHeaderLineType.Flag, "x"), standardAC); - - new RepairHeaderTest( new VCFInfoHeaderLine("NON_STANDARD_INFO", 1, VCFHeaderLineType.String, "x")); - new RepairHeaderTest( new VCFFormatHeaderLine("NON_STANDARD_FORMAT", 1, VCFHeaderLineType.String, "x")); - - return RepairHeaderTest.getTests(RepairHeaderTest.class); - } - - @Test(dataProvider = "RepairHeaderTest") - public void testRepairHeaderTest(RepairHeaderTest cfg) { - final VCFHeader toRepair = new VCFHeader(Collections.singleton((VCFHeaderLine)cfg.original)); - final VCFHeader repaired = VCFStandardHeaderLines.repairStandardHeaderLines(toRepair); - - VCFCompoundHeaderLine repairedLine = (VCFCompoundHeaderLine)repaired.getFormatHeaderLine(cfg.original.getID()); - if ( repairedLine == null ) repairedLine = (VCFCompoundHeaderLine)repaired.getInfoHeaderLine(cfg.original.getID()); - - Assert.assertNotNull(repairedLine, "Repaired header didn't contain the expected line"); - Assert.assertEquals(repairedLine.getID(), cfg.expectedResult.getID()); - Assert.assertEquals(repairedLine.getType(), cfg.expectedResult.getType()); - Assert.assertEquals(repairedLine.getCountType(), cfg.expectedResult.getCountType()); - if ( repairedLine.getCountType() == VCFHeaderLineCount.INTEGER ) - Assert.assertEquals(repairedLine.getCount(), cfg.expectedResult.getCount()); - } -} diff --git a/public/packages/GATKEngine.xml b/public/packages/GATKEngine.xml index 42b3a4d6e..08d2e1c2c 100644 --- a/public/packages/GATKEngine.xml +++ b/public/packages/GATKEngine.xml @@ -56,7 +56,7 @@ - + diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/DevNullOutput.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/DevNullOutput.scala index f0443df62..0021f5ae5 100644 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/DevNullOutput.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/DevNullOutput.scala @@ -39,12 +39,12 @@ class DevNullOutput extends QScript { var bamFile: File = _ def script() { - val genotyper = new UnifiedGenotyper - genotyper.reference_sequence = referenceFile - genotyper.memoryLimit = 2 - genotyper.scatterCount = 3 - genotyper.input_file :+= bamFile - genotyper.out = "/dev/null" - add(genotyper) + val printReads = new PrintReads + printReads.reference_sequence = referenceFile + printReads.memoryLimit = 2 + printReads.scatterCount = 3 + printReads.input_file :+= bamFile + printReads.out = "/dev/null" + add(printReads) } } diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleReadFilter.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleReadFilter.scala index 00f1741b3..bfd472db7 100644 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleReadFilter.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleReadFilter.scala @@ -29,7 +29,7 @@ import org.broadinstitute.sting.queue.QScript import org.broadinstitute.sting.queue.extensions.gatk._ /** - * Script used for testing output to /dev/null + * Script used for testing inclusion of a read filter */ class ExampleReadFilter extends QScript { @Input(doc="The reference file for the bam files.", shortName="R") @@ -39,10 +39,10 @@ class ExampleReadFilter extends QScript { var bamFile: File = _ def script() { - val genotyper = new UnifiedGenotyper with BadMate - genotyper.reference_sequence = referenceFile - genotyper.memoryLimit = 2 - genotyper.input_file :+= bamFile - add(genotyper) + val printReads = new PrintReads with BadMate + printReads.reference_sequence = referenceFile + printReads.memoryLimit = 2 + printReads.input_file :+= bamFile + add(printReads) } } diff --git a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleRetryMemoryLimit.scala b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleRetryMemoryLimit.scala index dfde1762d..21a8db85f 100644 --- a/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleRetryMemoryLimit.scala +++ b/public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleRetryMemoryLimit.scala @@ -33,21 +33,21 @@ class ExampleRetryMemoryLimit extends QScript { @Input(doc="The reference file for the bam files.", shortName="R") var referenceFile: File = _ - @Input(doc="Bam file to genotype.", shortName="I") + @Input(doc="Bam file to print.", shortName="I") var bamFile: File = _ def script() { for (scatterCount <- 1 to 2) { - val ug = new UnifiedGenotyper with RetryMemoryLimit + val printReads = new PrintReads with RetryMemoryLimit // First run with 1m - ug.memoryLimit = .001 + printReads.memoryLimit = .001 // On retry run with 1g - ug.retryMemoryFunction = (d => d * 1000) - ug.reference_sequence = referenceFile - ug.input_file = Seq(bamFile) - ug.out = swapExt(bamFile, ".bam", ".scattered_%d.vcf".format(scatterCount)) - ug.scatterCount = scatterCount - add(ug) + printReads.retryMemoryFunction = (d => d * 1000) + printReads.reference_sequence = referenceFile + printReads.input_file = Seq(bamFile) + printReads.out = swapExt(bamFile, ".bam", ".out.scattered_%d.bam".format(scatterCount)) + printReads.scatterCount = scatterCount + add(printReads) } } } diff --git a/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala b/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala index 9da2394bd..5e7ed8f2d 100644 --- a/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala +++ b/public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala @@ -113,6 +113,7 @@ class QCommandLine extends CommandLineProgram with Logging { def execute = { var success = false var result = 1 + var functionsAndStatusSize = 0 try { ClassFieldCache.parsingEngine = this.parser @@ -176,8 +177,7 @@ class QCommandLine extends CommandLineProgram with Logging { val scriptFunctions = functionsAndStatus.filterKeys(f => script.functions.contains(f)) script.onExecutionDone(scriptFunctions, success) } - - logger.info("Script %s with %d total jobs".format(if (success) "completed successfully" else "failed", functionsAndStatus.size)) + functionsAndStatusSize = functionsAndStatus.size // write the final complete job report logger.info("Writing final jobs report...") @@ -207,6 +207,7 @@ class QCommandLine extends CommandLineProgram with Logging { } } } + logger.info("Script %s with %d total jobs".format(if (success) "completed successfully" else "failed", functionsAndStatusSize)) result } diff --git a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala b/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala deleted file mode 100644 index 4998ffd4a..000000000 --- a/public/scala/test/org/broadinstitute/sting/queue/pipeline/examples/ExampleUnifiedGenotyperPipelineTest.scala +++ /dev/null @@ -1,96 +0,0 @@ -/* -* Copyright (c) 2012 The Broad Institute -* -* Permission is hereby granted, free of charge, to any person -* obtaining a copy of this software and associated documentation -* files (the "Software"), to deal in the Software without -* restriction, including without limitation the rights to use, -* copy, modify, merge, publish, distribute, sublicense, and/or sell -* copies of the Software, and to permit persons to whom the -* Software is furnished to do so, subject to the following -* conditions: -* -* The above copyright notice and this permission notice shall be -* included in all copies or substantial portions of the Software. -* -* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, -* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES -* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND -* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT -* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, -* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING -* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR -* THE USE OR OTHER DEALINGS IN THE SOFTWARE. -*/ - -package org.broadinstitute.sting.queue.pipeline.examples - -import org.testng.annotations.{DataProvider, Test} -import org.broadinstitute.sting.queue.pipeline.{PipelineTest, PipelineTestSpec} -import org.broadinstitute.sting.BaseTest - -class ExampleUnifiedGenotyperPipelineTest { - @Test(timeOut=36000000) - def testUnifiedGenotyper() { - val spec = new PipelineTestSpec - spec.name = "unifiedgenotyper" - spec.args = Array( - " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", - " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", - " -I " + BaseTest.publicTestDir + "exampleBAM.bam", - " -filter QD", - " -filterExpression 'QD < 2.0'").mkString - spec.jobRunners = PipelineTest.allJobRunners - PipelineTest.executeTest(spec) - } - - @DataProvider(name = "ugIntervals") - def getUnifiedGenotyperIntervals = - Array( - Array("gatk_intervals", BaseTest.validationDataLocation + "intervalTest.intervals"), - Array("bed_intervals", BaseTest.validationDataLocation + "intervalTest.bed"), - Array("vcf_intervals", BaseTest.validationDataLocation + "intervalTest.1.vcf") - ).asInstanceOf[Array[Array[Object]]] - - @Test(dataProvider = "ugIntervals", timeOut=36000000) - def testUnifiedGenotyperWithIntervals(intervalsName: String, intervalsPath: String) { - val spec = new PipelineTestSpec - spec.name = "unifiedgenotyper_with_" + intervalsName - spec.args = Array( - " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", - " -I " + BaseTest.validationDataLocation + "OV-0930.normal.chunk.bam", - " -R " + BaseTest.hg18Reference, - " -L " + intervalsPath).mkString - spec.jobRunners = Seq("Lsf706") - PipelineTest.executeTest(spec) - } - - @Test(timeOut=36000000) - def testUnifiedGenotyperNoGCOpt() { - val spec = new PipelineTestSpec - spec.name = "unifiedgenotyper_no_gc_opt" - spec.args = Array( - " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", - " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", - " -I " + BaseTest.publicTestDir + "exampleBAM.bam", - " -noGCOpt").mkString - spec.jobRunners = PipelineTest.allJobRunners - PipelineTest.executeTest(spec) - } - - @DataProvider(name="resMemReqParams") - def getResMemReqParam = Array(Array("mem_free"), Array("virtual_free")).asInstanceOf[Array[Array[Object]]] - - @Test(dataProvider = "resMemReqParams", timeOut=36000000) - def testUnifiedGenotyperResMemReqParam(reqParam: String) { - val spec = new PipelineTestSpec - spec.name = "unifiedgenotyper_" + reqParam - spec.args = Array( - " -S public/scala/qscript/org/broadinstitute/sting/queue/qscripts/examples/ExampleUnifiedGenotyper.scala", - " -R " + BaseTest.publicTestDir + "exampleFASTA.fasta", - " -I " + BaseTest.publicTestDir + "exampleBAM.bam", - " -resMemReqParam " + reqParam).mkString - spec.jobRunners = Seq("GridEngine") - PipelineTest.executeTest(spec) - } -} diff --git a/settings/helpTemplates/common.html b/settings/helpTemplates/common.html index 45148bda6..677fdf861 100644 --- a/settings/helpTemplates/common.html +++ b/settings/helpTemplates/common.html @@ -29,7 +29,8 @@ --> <#global siteRoot = "http://www.broadinstitute.org/gatk/" /> - <#global forum = "http://gatk.vanillaforums.com/" /> + <#global guideIndex = "http://www.broadinstitute.org/gatk/guide/" /> + <#global forum = "http://gatkforums.broadinstitute.org/" /> <#macro makeHeader title isIndex> @@ -57,7 +58,7 @@

    - GATK Documentation + GATK | Technical Documentation
    @@ -79,9 +80,11 @@ <#macro footerInfo>
    -

    See also Documentation index | GATK Site | GATK support forum

    +

    See also + Guide Index | + Technical Documentation Index | + Support Forum +

    GATK version ${version} built at ${timestamp}.

    @@ -106,22 +109,27 @@ } \ No newline at end of file diff --git a/settings/helpTemplates/generic.index.template.html b/settings/helpTemplates/generic.index.template.html index bb4aebae5..b3e3d0212 100644 --- a/settings/helpTemplates/generic.index.template.html +++ b/settings/helpTemplates/generic.index.template.html @@ -53,15 +53,20 @@ -<@makeHeader title="GATK documentation index" isIndex=true /> -

    GATK documentation index +<@makeHeader title="Technical Documentation Index" isIndex=true /> +

    Technical Documentation Index ${version}

    -
    - <#list groups?sort_by("name") as group> - <@emitGroup group=group/> - + <#assign seq = ["engine", "tools", "utilities", "other"]> + <#list seq as supercat> +
    + <#list groups?sort_by("name") as group> + <#if group.supercat == supercat> + <@emitGroup group=group/> + + +
    <@footerInfo /> diff --git a/settings/helpTemplates/generic.template.html b/settings/helpTemplates/generic.template.html index ce77acb5e..587828d1e 100644 --- a/settings/helpTemplates/generic.template.html +++ b/settings/helpTemplates/generic.template.html @@ -71,7 +71,6 @@

    - <#macro relatedByType name type> <#list relatedDocs as relatedDoc> <#if relatedDoc.relation == type> @@ -114,65 +113,141 @@ ${group} -
    + <#if walkertype != ""> +

    Traversal + ${walkertype} +

    + + <#if walkertype != ""> +

    PartitionBy + ${partitiontype} +

    + + <#if annotinfo != "" > +

    Annotation type + ${annotinfo} +

    + +

    Introduction

    ${description} + + <#-- Create references to additional capabilities if appropriate --> + <#if readfilters?size != 0 || parallel?size != 0> +
    +

    Additional Information

    +

    + + <#if readfilters?size != 0> +

    Read filters

    + <#if readfilters?size = 1> +

    This Read Filter is automatically applied to the data by the Engine before processing by ${name}.

    + + <#if (readfilters?size > 1) > +

    These Read Filters are automatically applied to the data by the Engine before processing by ${name}.

    + + + + <#if parallel?size != 0> +

    Parallelism options

    + <#if parallel?size == 1> +

    This tool can be run in multi-threaded mode using this option.

    + + <#if (parallel?size > 1)> +

    This tool can be run in multi-threaded mode using these options.

    + + + + <#if downsampling?size != 0> +

    Downsampling settings

    +

    This tool overrides the engine's default downsampling settings.

    +
      +
    • Mode: ${downsampling.by}
      • +
    • To coverage: ${downsampling.to_cov}
      • +
    + + <#if refwindow?size != 0> +

    Window size

    +

    This tool uses a sliding window on the reference.

    +
      +
    • Window start: ${refwindow.start} bp before the locus
      • +
    • Window stop: ${refwindow.stop} bp after the locus
      • +
    + + <#if activeregion?size != 0> +

    ActiveRegion settings

    +

    This tool uses ActiveRegions on the reference.

    +
      +
    • Minimum region size: ${activeregion.min} bp
      • +
    • Maximum region size: ${activeregion.max} bp
      • +
    • Extension increments: ${activeregion.ext} bp
      • +
    + + <#if extradocs?size != 0 || arguments.all?size != 0> +
    +

    Command-line Arguments

    +

    + + <#if extradocs?size != 0> +

    Inherited arguments

    +

    The arguments described in the entries below can be supplied to this tool to modify + its behavior. For example, the -L argument directs the GATK engine restricts processing + to specific genomic intervals (this is an Engine capability and is therefore available to all GATK walkers).

    + + + + <#-- This class is related to other documented classes via sub/super relationships --> + <#if relatedDocs?? && relatedDocs?size != 0> +

    Related capabilities

    + <@relatedByType name="Superclasses" type="superclass"/> + <@relatedByType name="Subclasses" type="subclass"/> + + + <#-- Create the argument summary --> + <#if arguments.all?size != 0> +

    ${name} specific arguments

    +

    This table summarizes the command-line arguments that are specific to this tool. For details, see the list further down below the table.

    + + + + + + + + + + + <@argumentlist name="Required" myargs=arguments.required/> + <@argumentlist name="Optional" myargs=arguments.optional/> + <@argumentlist name="Advanced" myargs=arguments.advanced/> + <@argumentlist name="Hidden" myargs=arguments.hidden/> + <@argumentlist name="Depreciated" myargs=arguments.depreciated/> + +
    NameTypeDefault valueSummary
    + + + <#-- List all of the --> + <#if arguments.all?size != 0> + <#-- Create the argument details --> +

    Argument details

    +

    Arguments in this list are specific to this tool. Keep in mind that other arguments are available that are shared with other tools (e.g. command-line GATK arguments); see Inherited arguments above.

    + <#list arguments.all as arg> + <@argumentDetails arg=arg/> + + - <#-- Create the argument summary --> - <#if arguments.all?size != 0> -
    -

    ${name} specific arguments

    - - - - - - - - - - - <@argumentlist name="Required" myargs=arguments.required/> - <@argumentlist name="Optional" myargs=arguments.optional/> - <@argumentlist name="Advanced" myargs=arguments.advanced/> - <@argumentlist name="Hidden" myargs=arguments.hidden/> - <@argumentlist name="Depreciated" myargs=arguments.depreciated/> - -
    NameTypeDefault valueSummary
    - - - <#-- Create references to additional capabilities if appropriate --> - <#if extradocs?size != 0> -
    -

    Additional capabilities

    - The arguments described in the entries below can be supplied to this tool to modify - its behavior. For example, the -L argument directs the GATK engine restricts processing - to specific genomic intervals. This capability is available to all GATK walkers. - - - - <#-- This class is related to other documented classes via sub/super relationships --> - <#if relatedDocs?? && relatedDocs?size != 0> -
    -

    Related capabilities

    - <@relatedByType name="Superclasses" type="superclass"/> - <@relatedByType name="Subclasses" type="subclass"/> - - - <#-- List all of the --> - <#if arguments.all?size != 0> -
    - <#-- Create the argument details --> -

    Argument details

    - <#list arguments.all as arg> - <@argumentDetails arg=arg/> - - - - <@footerInfo /> - <@pageFooter /> \ No newline at end of file + <@footerInfo /> + <@pageFooter /> \ No newline at end of file diff --git a/settings/repository/org.broadinstitute/variant-1.85.1357.jar b/settings/repository/org.broadinstitute/variant-1.85.1357.jar new file mode 100644 index 000000000..d341e1cf5 Binary files /dev/null and b/settings/repository/org.broadinstitute/variant-1.85.1357.jar differ diff --git a/settings/repository/org.broadinstitute/variant-1.85.1357.xml b/settings/repository/org.broadinstitute/variant-1.85.1357.xml new file mode 100644 index 000000000..f6d7a2caa --- /dev/null +++ b/settings/repository/org.broadinstitute/variant-1.85.1357.xml @@ -0,0 +1,3 @@ + + +