Merge branch 'develop' of github.com:broadinstitute/cmi-gatk into develop
This commit is contained in:
Guillermo del Angel
commit
6aec172c16
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@ -39,57 +39,12 @@ public class AdvancedRecalibrationEngine extends StandardRecalibrationEngine imp
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// optimization: only allocate temp arrays once per thread
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private final ThreadLocal<byte[]> threadLocalTempQualArray = new ThreadLocalArray<byte[]>(EventType.values().length, byte.class);
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private final ThreadLocal<boolean[]> threadLocalTempErrorArray = new ThreadLocalArray<boolean[]>(EventType.values().length, boolean.class);
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private final ThreadLocal<double[]> threadLocalTempFractionalErrorArray = new ThreadLocalArray<double[]>(EventType.values().length, double.class);
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public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables) {
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super.initialize(covariates, recalibrationTables);
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}
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/**
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* Loop through the list of requested covariates and pick out the value from the read, offset, and reference
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* Using the list of covariate values as a key, pick out the RecalDatum and increment,
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* adding one to the number of observations and potentially one to the number of mismatches for all three
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* categories (mismatches, insertions and deletions).
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*
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* @param pileupElement The pileup element to update
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* @param refBase The reference base at this locus
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*/
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@Override
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public void updateDataForPileupElement(final PileupElement pileupElement, final byte refBase) {
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final int offset = pileupElement.getOffset();
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final ReadCovariates readCovariates = covariateKeySetFrom(pileupElement.getRead());
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byte[] tempQualArray = threadLocalTempQualArray.get();
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boolean[] tempErrorArray = threadLocalTempErrorArray.get();
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tempQualArray[EventType.BASE_SUBSTITUTION.index] = pileupElement.getQual();
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tempErrorArray[EventType.BASE_SUBSTITUTION.index] = !BaseUtils.basesAreEqual(pileupElement.getBase(), refBase);
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tempQualArray[EventType.BASE_INSERTION.index] = pileupElement.getBaseInsertionQual();
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tempErrorArray[EventType.BASE_INSERTION.index] = (pileupElement.getRead().getReadNegativeStrandFlag()) ? pileupElement.isAfterInsertion() : pileupElement.isBeforeInsertion();
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tempQualArray[EventType.BASE_DELETION.index] = pileupElement.getBaseDeletionQual();
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tempErrorArray[EventType.BASE_DELETION.index] = (pileupElement.getRead().getReadNegativeStrandFlag()) ? pileupElement.isAfterDeletedBase() : pileupElement.isBeforeDeletedBase();
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for (final EventType eventType : EventType.values()) {
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final int[] keys = readCovariates.getKeySet(offset, eventType);
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final int eventIndex = eventType.index;
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final byte qual = tempQualArray[eventIndex];
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final boolean isError = tempErrorArray[eventIndex];
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// TODO: should this really be combine rather than increment?
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combineDatumOrPutIfNecessary(recalibrationTables.getReadGroupTable(), qual, isError, keys[0], eventIndex);
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incrementDatumOrPutIfNecessary(recalibrationTables.getQualityScoreTable(), qual, isError, keys[0], keys[1], eventIndex);
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for (int i = 2; i < covariates.length; i++) {
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if (keys[i] < 0)
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continue;
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incrementDatumOrPutIfNecessary(recalibrationTables.getTable(i), qual, isError, keys[0], keys[1], keys[i], eventIndex);
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}
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}
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}
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@Override
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public void updateDataForRead(final GATKSAMRecord read, final boolean[] skip, final double[] snpErrors, final double[] insertionErrors, final double[] deletionErrors ) {
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for( int offset = 0; offset < read.getReadBases().length; offset++ ) {
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@ -51,21 +51,21 @@ public class BQSRIntegrationTest extends WalkerTest {
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String HiSeqBam = privateTestDir + "HiSeq.1mb.1RG.bam";
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String HiSeqInterval = "chr1:10,000,000-10,100,000";
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return new Object[][]{
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, "", "55a46d8f5d2f9acfa2d7659e18b6df43")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov ContextCovariate", "8e930f56a8905a5999af7d6ba8a92f91")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov CycleCovariate", "8e87bee4bd6531b405082c4da785f1f5")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --indels_context_size 4", "b309a5f57b861d7f31cb76cdac4ff8a7")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --low_quality_tail 5", "4c75d47ed2cf93b499be8fbb29b24dfd")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --quantizing_levels 6", "43b06e5568a89e4ce1dd9146ce580c89")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --mismatches_context_size 4", "25f4f48dba27475b0cd7c06ef0239aba")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", "", "dfcba9acc32b4a1dfeceea135b48615a")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-10,200,000", "", "e8077b721f2e6f51c1945b6f6236835c")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.1RG.bam", "1:10,000,000-10,200,000", "", "fbdc8d0fd312e3a7f49063c580cf5d92")},
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{new BQSRTest(b36KGReference, validationDataLocation + "originalQuals.1kg.chr1.1-1K.1RG.bam", "1:1-1,000", " -OQ", "4f47415628201a4f3c33e48ec066677b")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-20,000,000", " --solid_recal_mode REMOVE_REF_BIAS", "1e89d2b88f4218363b9322b38e9536f2")},
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{new BQSRTest(b36KGReference, privateTestDir + "NA19240.chr1.BFAST.SOLID.hasCSNoCall.bam", "1:50,000-80,000", " --solid_nocall_strategy LEAVE_READ_UNRECALIBRATED", "a7beb0b16756257a274eecf73474ed90")},
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{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", "dfcba9acc32b4a1dfeceea135b48615a")},
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{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", "2082c70e08f1c14290c3812021832f83")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, "", "387b41dc2221a1a4a782958944662b25")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov ContextCovariate", "b5e26902e76abbd59f94f65c70d18165")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --no_standard_covs -cov CycleCovariate", "a8a9c3f83269911cb61c5fe8fb98dc4a")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --indels_context_size 4", "f43a0473101c63ae93444c300d843e81")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --low_quality_tail 5", "9e05e63339d4716584bfc717cab6bd0f")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --quantizing_levels 6", "1cf9b9c9c64617dc0f3d2f203f918dbe")},
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{new BQSRTest(hg18Reference, HiSeqBam, HiSeqInterval, " --mismatches_context_size 4", "aa1949a77bc3066fee551a217c970c0d")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA12892.SLX.SRP000031.2009_06.selected.1Mb.1RG.bam", "1:10,000,000-10,200,000", "", "f70d8b5358bc2f76696f14b7a807ede0")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-10,200,000", "", "4c0f63e06830681560a1e9f9aad9fe98")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA12873.454.SRP000031.2009_06.chr1.10_20mb.1RG.bam", "1:10,000,000-10,200,000", "", "be2812cd3dae3c326cf35ae3f1c8ad9e")},
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{new BQSRTest(b36KGReference, validationDataLocation + "originalQuals.1kg.chr1.1-1K.1RG.bam", "1:1-1,000", " -OQ", "03c29a0c1d21f72b12daf51cec111599")},
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{new BQSRTest(b36KGReference, validationDataLocation + "NA19240.chr1.BFAST.SOLID.bam", "1:10,000,000-20,000,000", " --solid_recal_mode REMOVE_REF_BIAS", "7080b2cad02ec6e67ebc766b2dccebf8")},
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{new BQSRTest(b36KGReference, privateTestDir + "NA19240.chr1.BFAST.SOLID.hasCSNoCall.bam", "1:50,000-80,000", " --solid_nocall_strategy LEAVE_READ_UNRECALIBRATED", "30e76055c16843b6e33e5b9bd8ced57c")},
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{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", "f70d8b5358bc2f76696f14b7a807ede0")},
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{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", "5e657fd6a44dcdc7674b6e5a2de5dc83")},
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};
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}
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@ -364,7 +364,7 @@ public class VariantContextAdaptors {
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long end = hapmap.getEnd();
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if ( deletionLength > 0 )
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end += deletionLength;
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end += (deletionLength - 1);
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VariantContext vc = new VariantContextBuilder(name, hapmap.getChr(), hapmap.getStart(), end, alleles).id(hapmap.getName()).genotypes(genotypes).make();
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return vc;
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}
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@ -25,35 +25,41 @@
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package org.broadinstitute.sting.gatk.walkers.bqsr;
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import net.sf.picard.reference.IndexedFastaSequenceFile;
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import net.sf.samtools.CigarElement;
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import net.sf.samtools.SAMFileHeader;
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import org.broad.tribble.Feature;
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import org.broadinstitute.sting.commandline.Advanced;
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import org.broadinstitute.sting.commandline.Argument;
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import org.broadinstitute.sting.commandline.ArgumentCollection;
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import org.broadinstitute.sting.gatk.CommandLineGATK;
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import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
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import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
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import org.broadinstitute.sting.gatk.filters.MappingQualityUnavailableFilter;
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import org.broadinstitute.sting.gatk.filters.MappingQualityZeroFilter;
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import org.broadinstitute.sting.gatk.filters.*;
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import org.broadinstitute.sting.gatk.iterators.ReadTransformer;
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import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
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import org.broadinstitute.sting.gatk.walkers.*;
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import org.broadinstitute.sting.utils.BaseUtils;
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import org.broadinstitute.sting.utils.baq.BAQ;
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import org.broadinstitute.sting.utils.classloader.GATKLiteUtils;
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import org.broadinstitute.sting.utils.clipping.ReadClipper;
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import org.broadinstitute.sting.utils.collections.Pair;
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import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
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import org.broadinstitute.sting.utils.exceptions.UserException;
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import org.broadinstitute.sting.utils.fasta.CachingIndexedFastaSequenceFile;
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import org.broadinstitute.sting.utils.help.DocumentedGATKFeature;
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import org.broadinstitute.sting.utils.pileup.PileupElement;
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import org.broadinstitute.sting.utils.recalibration.QuantizationInfo;
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import org.broadinstitute.sting.utils.recalibration.RecalUtils;
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import org.broadinstitute.sting.utils.recalibration.RecalibrationReport;
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import org.broadinstitute.sting.utils.recalibration.RecalibrationTables;
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import org.broadinstitute.sting.utils.recalibration.*;
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import org.broadinstitute.sting.utils.recalibration.covariates.Covariate;
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import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
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import org.broadinstitute.sting.utils.sam.ReadUtils;
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import java.io.File;
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import java.io.FileNotFoundException;
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import java.io.IOException;
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import java.io.PrintStream;
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import java.lang.reflect.Constructor;
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import java.util.ArrayList;
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import java.util.Arrays;
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import java.util.List;
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/**
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* First pass of the base quality score recalibration -- Generates recalibration table based on various user-specified covariates (such as read group, reported quality score, machine cycle, and nucleotide context).
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@ -103,19 +109,20 @@ import java.util.ArrayList;
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* </pre>
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*/
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@DocumentedGATKFeature( groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class} )
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@DocumentedGATKFeature(groupName = "BAM Processing and Analysis Tools", extraDocs = {CommandLineGATK.class})
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@BAQMode(ApplicationTime = ReadTransformer.ApplicationTime.FORBIDDEN)
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@By(DataSource.READS)
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@ReadFilters({MappingQualityZeroFilter.class, MappingQualityUnavailableFilter.class}) // only look at covered loci, not every loci of the reference file
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@Requires({DataSource.READS, DataSource.REFERENCE}) // filter out all reads with zero or unavailable mapping quality
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@PartitionBy(PartitionType.LOCUS) // this walker requires both -I input.bam and -R reference.fasta
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public class BaseRecalibrator extends LocusWalker<Long, Long> {
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@ReadFilters({MappingQualityZeroFilter.class, MappingQualityUnavailableFilter.class, UnmappedReadFilter.class, NotPrimaryAlignmentFilter.class, DuplicateReadFilter.class, FailsVendorQualityCheckFilter.class})
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@PartitionBy(PartitionType.READ)
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public class BaseRecalibrator extends ReadWalker<Long, Long> implements NanoSchedulable {
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@ArgumentCollection
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private final RecalibrationArgumentCollection RAC = new RecalibrationArgumentCollection(); // all the command line arguments for BQSR and it's covariates
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@Advanced
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@Argument(fullName = "bqsrBAQGapOpenPenalty", shortName="bqsrBAQGOP", doc="BQSR BAQ gap open penalty (Phred Scaled). Default value is 40. 30 is perhaps better for whole genome call sets", required = false)
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public double BAQGOP = BAQ.DEFAULT_GOP;
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private QuantizationInfo quantizationInfo; // an object that keeps track of the information necessary for quality score quantization
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private RecalibrationTables recalibrationTables;
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private Covariate[] requestedCovariates; // list to hold the all the covariate objects that were requested (required + standard + experimental)
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@ -124,12 +131,12 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
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private int minimumQToUse;
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protected static final String SKIP_RECORD_ATTRIBUTE = "SKIP"; // used to label reads that should be skipped.
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protected static final String SEEN_ATTRIBUTE = "SEEN"; // used to label reads as processed.
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protected static final String COVARS_ATTRIBUTE = "COVARS"; // used to store covariates array as a temporary attribute inside GATKSAMRecord.\
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private static final String NO_DBSNP_EXCEPTION = "This calculation is critically dependent on being able to skip over known variant sites. Please provide a VCF file containing known sites of genetic variation.";
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private BAQ baq; // BAQ the reads on the fly to generate the alignment uncertainty vector
|
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private IndexedFastaSequenceFile referenceReader; // fasta reference reader for use with BAQ calculation
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/**
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* Parse the -cov arguments and create a list of covariates to be used here
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@ -137,6 +144,8 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
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*/
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public void initialize() {
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baq = new BAQ(BAQGOP); // setup the BAQ object with the provided gap open penalty
|
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|
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// check for unsupported access
|
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if (getToolkit().isGATKLite() && !getToolkit().getArguments().disableIndelQuals)
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throw new UserException.NotSupportedInGATKLite("base insertion/deletion recalibration is not supported, please use the --disable_indel_quals argument");
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|
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@ -185,13 +194,21 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
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recalibrationEngine.initialize(requestedCovariates, recalibrationTables);
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minimumQToUse = getToolkit().getArguments().PRESERVE_QSCORES_LESS_THAN;
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||||
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try {
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// fasta reference reader for use with BAQ calculation
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referenceReader = new CachingIndexedFastaSequenceFile(getToolkit().getArguments().referenceFile);
|
||||
} catch( FileNotFoundException e ) {
|
||||
throw new UserException.CouldNotReadInputFile(getToolkit().getArguments().referenceFile, e);
|
||||
}
|
||||
|
||||
}
|
||||
|
||||
private RecalibrationEngine initializeRecalibrationEngine() {
|
||||
|
||||
final Class recalibrationEngineClass = GATKLiteUtils.getProtectedClassIfAvailable(RecalibrationEngine.class);
|
||||
try {
|
||||
Constructor constructor = recalibrationEngineClass.getDeclaredConstructor((Class[])null);
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||||
final Constructor constructor = recalibrationEngineClass.getDeclaredConstructor((Class[])null);
|
||||
constructor.setAccessible(true);
|
||||
return (RecalibrationEngine)constructor.newInstance();
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||||
}
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||||
|
|
@ -200,60 +217,207 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
|
|||
}
|
||||
}
|
||||
|
||||
private boolean readHasBeenSkipped( final GATKSAMRecord read ) {
|
||||
return read.containsTemporaryAttribute(SKIP_RECORD_ATTRIBUTE);
|
||||
}
|
||||
|
||||
private boolean isLowQualityBase( final PileupElement p ) {
|
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return p.getQual() < minimumQToUse;
|
||||
}
|
||||
|
||||
private boolean readNotSeen( final GATKSAMRecord read ) {
|
||||
return !read.containsTemporaryAttribute(SEEN_ATTRIBUTE);
|
||||
private boolean isLowQualityBase( final GATKSAMRecord read, final int offset ) {
|
||||
return read.getBaseQualities()[offset] < minimumQToUse;
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||||
}
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||||
|
||||
/**
|
||||
* For each read at this locus get the various covariate values and increment that location in the map based on
|
||||
* whether or not the base matches the reference at this particular location
|
||||
*
|
||||
* @param tracker the reference metadata tracker
|
||||
* @param ref the reference context
|
||||
* @param context the alignment context
|
||||
* @return returns 1, but this value isn't used in the reduce step
|
||||
*/
|
||||
public Long map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
|
||||
long countedSites = 0L;
|
||||
// Only analyze sites not present in the provided known sites
|
||||
if (tracker.getValues(RAC.knownSites).size() == 0) {
|
||||
for (final PileupElement p : context.getBasePileup()) {
|
||||
final GATKSAMRecord read = p.getRead();
|
||||
final int offset = p.getOffset();
|
||||
public Long map( final ReferenceContext ref, final GATKSAMRecord originalRead, final RefMetaDataTracker metaDataTracker ) {
|
||||
|
||||
// This read has been marked to be skipped or base is low quality (we don't recalibrate low quality bases)
|
||||
if (readHasBeenSkipped(read) || p.isInsertionAtBeginningOfRead() || isLowQualityBase(p) )
|
||||
continue;
|
||||
final GATKSAMRecord read = ReadClipper.hardClipAdaptorSequence(originalRead);
|
||||
if( read.isEmpty() ) { return 0L; } // the whole read was inside the adaptor so skip it
|
||||
|
||||
if (readNotSeen(read)) {
|
||||
read.setTemporaryAttribute(SEEN_ATTRIBUTE, true);
|
||||
RecalUtils.parsePlatformForRead(read, RAC);
|
||||
if (!RecalUtils.isColorSpaceConsistent(RAC.SOLID_NOCALL_STRATEGY, read)) {
|
||||
read.setTemporaryAttribute(SKIP_RECORD_ATTRIBUTE, true);
|
||||
continue;
|
||||
RecalUtils.parsePlatformForRead(read, RAC);
|
||||
if (!RecalUtils.isColorSpaceConsistent(RAC.SOLID_NOCALL_STRATEGY, read)) { // parse the solid color space and check for color no-calls
|
||||
return 0L; // skip this read completely
|
||||
}
|
||||
read.setTemporaryAttribute(COVARS_ATTRIBUTE, RecalUtils.computeCovariates(read, requestedCovariates));
|
||||
|
||||
final boolean[] skip = calculateSkipArray(read, metaDataTracker); // skip known sites of variation as well as low quality and non-regular bases
|
||||
final int[] isSNP = calculateIsSNP(read, ref, originalRead);
|
||||
final int[] isInsertion = calculateIsIndel(read, EventType.BASE_INSERTION);
|
||||
final int[] isDeletion = calculateIsIndel(read, EventType.BASE_DELETION);
|
||||
final byte[] baqArray = calculateBAQArray(read);
|
||||
|
||||
if( baqArray != null ) { // some reads just can't be BAQ'ed
|
||||
final double[] snpErrors = calculateFractionalErrorArray(isSNP, baqArray);
|
||||
final double[] insertionErrors = calculateFractionalErrorArray(isInsertion, baqArray);
|
||||
final double[] deletionErrors = calculateFractionalErrorArray(isDeletion, baqArray);
|
||||
recalibrationEngine.updateDataForRead(read, skip, snpErrors, insertionErrors, deletionErrors);
|
||||
return 1L;
|
||||
} else {
|
||||
return 0L;
|
||||
}
|
||||
}
|
||||
|
||||
protected boolean[] calculateSkipArray( final GATKSAMRecord read, final RefMetaDataTracker metaDataTracker ) {
|
||||
final byte[] bases = read.getReadBases();
|
||||
final boolean[] skip = new boolean[bases.length];
|
||||
final boolean[] knownSites = calculateKnownSites(read, metaDataTracker.getValues(RAC.knownSites));
|
||||
for( int iii = 0; iii < bases.length; iii++ ) {
|
||||
skip[iii] = !BaseUtils.isRegularBase(bases[iii]) || isLowQualityBase(read, iii) || knownSites[iii] || badSolidOffset(read, iii);
|
||||
}
|
||||
return skip;
|
||||
}
|
||||
|
||||
protected boolean badSolidOffset( final GATKSAMRecord read, final int offset ) {
|
||||
return ReadUtils.isSOLiDRead(read) && RAC.SOLID_RECAL_MODE != RecalUtils.SOLID_RECAL_MODE.DO_NOTHING && !RecalUtils.isColorSpaceConsistent(read, offset);
|
||||
}
|
||||
|
||||
protected boolean[] calculateKnownSites( final GATKSAMRecord read, final List<Feature> features ) {
|
||||
final int BUFFER_SIZE = 0;
|
||||
final int readLength = read.getReadBases().length;
|
||||
final boolean[] knownSites = new boolean[readLength];
|
||||
Arrays.fill(knownSites, false);
|
||||
for( final Feature f : features ) {
|
||||
int featureStartOnRead = ReadUtils.getReadCoordinateForReferenceCoordinate(read.getSoftStart(), read.getCigar(), f.getStart(), ReadUtils.ClippingTail.LEFT_TAIL, true); // BUGBUG: should I use LEFT_TAIL here?
|
||||
if( featureStartOnRead == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { featureStartOnRead = 0; }
|
||||
int featureEndOnRead = ReadUtils.getReadCoordinateForReferenceCoordinate(read.getSoftStart(), read.getCigar(), f.getEnd(), ReadUtils.ClippingTail.LEFT_TAIL, true);
|
||||
if( featureEndOnRead == ReadUtils.CLIPPING_GOAL_NOT_REACHED ) { featureEndOnRead = readLength; }
|
||||
Arrays.fill(knownSites, Math.max(0, featureStartOnRead - BUFFER_SIZE), Math.min(readLength, featureEndOnRead + 1 + BUFFER_SIZE), true);
|
||||
}
|
||||
return knownSites;
|
||||
}
|
||||
|
||||
// BUGBUG: can be merged with calculateIsIndel
|
||||
protected static int[] calculateIsSNP( final GATKSAMRecord read, final ReferenceContext ref, final GATKSAMRecord originalRead ) {
|
||||
final byte[] readBases = read.getReadBases();
|
||||
final byte[] refBases = Arrays.copyOfRange(ref.getBases(), read.getAlignmentStart() - originalRead.getAlignmentStart(), ref.getBases().length + read.getAlignmentEnd() - originalRead.getAlignmentEnd());
|
||||
final int[] snp = new int[readBases.length];
|
||||
int readPos = 0;
|
||||
int refPos = 0;
|
||||
for ( final CigarElement ce : read.getCigar().getCigarElements() ) {
|
||||
final int elementLength = ce.getLength();
|
||||
switch (ce.getOperator()) {
|
||||
case M:
|
||||
case EQ:
|
||||
case X:
|
||||
for( int iii = 0; iii < elementLength; iii++ ) {
|
||||
snp[readPos] = ( BaseUtils.basesAreEqual(readBases[readPos], refBases[refPos]) ? 0 : 1 );
|
||||
readPos++;
|
||||
refPos++;
|
||||
}
|
||||
read.setTemporaryAttribute(COVARS_ATTRIBUTE, RecalUtils.computeCovariates(read, requestedCovariates));
|
||||
}
|
||||
|
||||
// SOLID bams have inserted the reference base into the read if the color space in inconsistent with the read base so skip it
|
||||
if (!ReadUtils.isSOLiDRead(read) ||
|
||||
RAC.SOLID_RECAL_MODE == RecalUtils.SOLID_RECAL_MODE.DO_NOTHING ||
|
||||
RecalUtils.isColorSpaceConsistent(read, offset))
|
||||
// This base finally passed all the checks for a good base, so add it to the big data hashmap
|
||||
recalibrationEngine.updateDataForPileupElement(p, ref.getBase());
|
||||
break;
|
||||
case D:
|
||||
case N:
|
||||
refPos += elementLength;
|
||||
break;
|
||||
case I:
|
||||
case S: // ReferenceContext doesn't have the soft clipped bases!
|
||||
readPos += elementLength;
|
||||
break;
|
||||
case H:
|
||||
case P:
|
||||
break;
|
||||
default:
|
||||
throw new ReviewedStingException("Unsupported cigar operator: " + ce.getOperator());
|
||||
}
|
||||
countedSites++;
|
||||
}
|
||||
return snp;
|
||||
}
|
||||
|
||||
protected static int[] calculateIsIndel( final GATKSAMRecord read, final EventType mode ) {
|
||||
final byte[] readBases = read.getReadBases();
|
||||
final int[] indel = new int[readBases.length];
|
||||
Arrays.fill(indel, 0);
|
||||
int readPos = 0;
|
||||
for ( final CigarElement ce : read.getCigar().getCigarElements() ) {
|
||||
final int elementLength = ce.getLength();
|
||||
switch (ce.getOperator()) {
|
||||
case M:
|
||||
case EQ:
|
||||
case X:
|
||||
case S:
|
||||
{
|
||||
readPos += elementLength;
|
||||
break;
|
||||
}
|
||||
case D:
|
||||
{
|
||||
final int index = ( read.getReadNegativeStrandFlag() ? readPos : ( readPos > 0 ? readPos - 1 : readPos ) );
|
||||
indel[index] = ( mode.equals(EventType.BASE_DELETION) ? 1 : 0 );
|
||||
break;
|
||||
}
|
||||
case I:
|
||||
{
|
||||
final boolean forwardStrandRead = !read.getReadNegativeStrandFlag();
|
||||
if( forwardStrandRead ) {
|
||||
indel[(readPos > 0 ? readPos - 1 : readPos)] = ( mode.equals(EventType.BASE_INSERTION) ? 1 : 0 );
|
||||
}
|
||||
for (int iii = 0; iii < elementLength; iii++) {
|
||||
readPos++;
|
||||
}
|
||||
if( !forwardStrandRead ) {
|
||||
indel[(readPos < indel.length ? readPos : readPos - 1)] = ( mode.equals(EventType.BASE_INSERTION) ? 1 : 0 );
|
||||
}
|
||||
break;
|
||||
}
|
||||
case N:
|
||||
case H:
|
||||
case P:
|
||||
break;
|
||||
default:
|
||||
throw new ReviewedStingException("Unsupported cigar operator: " + ce.getOperator());
|
||||
}
|
||||
}
|
||||
return indel;
|
||||
}
|
||||
|
||||
protected static double[] calculateFractionalErrorArray( final int[] errorArray, final byte[] baqArray ) {
|
||||
if(errorArray.length != baqArray.length ) {
|
||||
throw new ReviewedStingException("Array length mismatch detected. Malformed read?");
|
||||
}
|
||||
|
||||
return countedSites;
|
||||
final byte NO_BAQ_UNCERTAINTY = (byte)'@';
|
||||
final int BLOCK_START_UNSET = -1;
|
||||
|
||||
final double[] fractionalErrors = new double[baqArray.length];
|
||||
Arrays.fill(fractionalErrors, 0.0);
|
||||
boolean inBlock = false;
|
||||
int blockStartIndex = BLOCK_START_UNSET;
|
||||
int iii;
|
||||
for( iii = 0; iii < fractionalErrors.length; iii++ ) {
|
||||
if( baqArray[iii] == NO_BAQ_UNCERTAINTY ) {
|
||||
if( !inBlock ) {
|
||||
fractionalErrors[iii] = (double) errorArray[iii];
|
||||
} else {
|
||||
calculateAndStoreErrorsInBlock(iii, blockStartIndex, errorArray, fractionalErrors);
|
||||
inBlock = false; // reset state variables
|
||||
blockStartIndex = BLOCK_START_UNSET; // reset state variables
|
||||
}
|
||||
} else {
|
||||
inBlock = true;
|
||||
if( blockStartIndex == BLOCK_START_UNSET ) { blockStartIndex = iii; }
|
||||
}
|
||||
}
|
||||
if( inBlock ) {
|
||||
calculateAndStoreErrorsInBlock(iii-1, blockStartIndex, errorArray, fractionalErrors);
|
||||
}
|
||||
if( fractionalErrors.length != errorArray.length ) {
|
||||
throw new ReviewedStingException("Output array length mismatch detected. Malformed read?");
|
||||
}
|
||||
return fractionalErrors;
|
||||
}
|
||||
|
||||
private static void calculateAndStoreErrorsInBlock( final int iii,
|
||||
final int blockStartIndex,
|
||||
final int[] errorArray,
|
||||
final double[] fractionalErrors ) {
|
||||
int totalErrors = 0;
|
||||
for( int jjj = Math.max(0,blockStartIndex-1); jjj <= iii; jjj++ ) {
|
||||
totalErrors += errorArray[jjj];
|
||||
}
|
||||
for( int jjj = Math.max(0, blockStartIndex-1); jjj <= iii; jjj++ ) {
|
||||
fractionalErrors[jjj] = ((double) totalErrors) / ((double)(iii - Math.max(0,blockStartIndex-1) + 1));
|
||||
}
|
||||
}
|
||||
|
||||
private byte[] calculateBAQArray( final GATKSAMRecord read ) {
|
||||
baq.baqRead(read, referenceReader, BAQ.CalculationMode.RECALCULATE, BAQ.QualityMode.ADD_TAG);
|
||||
return BAQ.getBAQTag(read);
|
||||
}
|
||||
|
||||
/**
|
||||
|
|
@ -286,12 +450,12 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
|
|||
generateReport();
|
||||
logger.info("...done!");
|
||||
|
||||
if (RAC.RECAL_PDF_FILE != null) {
|
||||
if ( RAC.RECAL_PDF_FILE != null ) {
|
||||
logger.info("Generating recalibration plots...");
|
||||
generatePlots();
|
||||
}
|
||||
|
||||
logger.info("Processed: " + result + " sites");
|
||||
logger.info("Processed: " + result + " reads");
|
||||
}
|
||||
|
||||
private void generatePlots() {
|
||||
|
|
@ -304,7 +468,6 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
|
|||
RecalUtils.generateRecalibrationPlot(RAC, recalibrationTables, requestedCovariates);
|
||||
}
|
||||
|
||||
|
||||
/**
|
||||
* go through the quality score table and use the # observations and the empirical quality score
|
||||
* to build a quality score histogram for quantization. Then use the QuantizeQual algorithm to
|
||||
|
|
@ -317,5 +480,4 @@ public class BaseRecalibrator extends LocusWalker<Long, Long> {
|
|||
private void generateReport() {
|
||||
RecalUtils.outputRecalibrationReport(RAC, quantizationInfo, recalibrationTables, requestedCovariates);
|
||||
}
|
||||
}
|
||||
|
||||
}
|
||||
|
|
@ -33,7 +33,5 @@ public interface RecalibrationEngine {
|
|||
|
||||
public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables);
|
||||
|
||||
public void updateDataForPileupElement(final PileupElement pileupElement, final byte refBase);
|
||||
|
||||
public void updateDataForRead(final GATKSAMRecord read, final boolean[] skip, final double[] snpErrors, final double[] insertionErrors, final double[] deletionErrors);
|
||||
}
|
||||
|
|
|
|||
|
|
@ -46,41 +46,30 @@ public class StandardRecalibrationEngine implements RecalibrationEngine, PublicP
|
|||
this.recalibrationTables = recalibrationTables;
|
||||
}
|
||||
|
||||
/**
|
||||
* Loop through the list of requested covariates and pick out the value from the read, offset, and reference
|
||||
* Using the list of covariate values as a key, pick out the RecalDatum and increment,
|
||||
* adding one to the number of observations and potentially one to the number of mismatches for mismatches only.
|
||||
*
|
||||
* @param pileupElement The pileup element to update
|
||||
* @param refBase The reference base at this locus
|
||||
*/
|
||||
@Override
|
||||
public void updateDataForPileupElement(final PileupElement pileupElement, final byte refBase) {
|
||||
final int offset = pileupElement.getOffset();
|
||||
final ReadCovariates readCovariates = covariateKeySetFrom(pileupElement.getRead());
|
||||
|
||||
final byte qual = pileupElement.getQual();
|
||||
final boolean isError = !BaseUtils.basesAreEqual(pileupElement.getBase(), refBase);
|
||||
|
||||
final int[] keys = readCovariates.getKeySet(offset, EventType.BASE_SUBSTITUTION);
|
||||
final int eventIndex = EventType.BASE_SUBSTITUTION.index;
|
||||
|
||||
// TODO: should this really be combine rather than increment?
|
||||
combineDatumOrPutIfNecessary(recalibrationTables.getReadGroupTable(), qual, isError, keys[0], eventIndex);
|
||||
|
||||
incrementDatumOrPutIfNecessary(recalibrationTables.getQualityScoreTable(), qual, isError, keys[0], keys[1], eventIndex);
|
||||
|
||||
for (int i = 2; i < covariates.length; i++) {
|
||||
if (keys[i] < 0)
|
||||
continue;
|
||||
|
||||
incrementDatumOrPutIfNecessary(recalibrationTables.getTable(i), qual, isError, keys[0], keys[1], keys[i], eventIndex);
|
||||
}
|
||||
}
|
||||
|
||||
@Override
|
||||
public void updateDataForRead( final GATKSAMRecord read, final boolean[] skip, final double[] snpErrors, final double[] insertionErrors, final double[] deletionErrors ) {
|
||||
throw new UnsupportedOperationException("Delocalized BQSR is not available in the GATK-lite version");
|
||||
for( int offset = 0; offset < read.getReadBases().length; offset++ ) {
|
||||
if( !skip[offset] ) {
|
||||
final ReadCovariates readCovariates = covariateKeySetFrom(read);
|
||||
|
||||
final byte qual = read.getBaseQualities()[offset];
|
||||
final double isError = snpErrors[offset];
|
||||
|
||||
final int[] keys = readCovariates.getKeySet(offset, EventType.BASE_SUBSTITUTION);
|
||||
final int eventIndex = EventType.BASE_SUBSTITUTION.index;
|
||||
|
||||
combineDatumOrPutIfNecessary(recalibrationTables.getReadGroupTable(), qual, isError, keys[0], eventIndex);
|
||||
|
||||
incrementDatumOrPutIfNecessary(recalibrationTables.getQualityScoreTable(), qual, isError, keys[0], keys[1], eventIndex);
|
||||
|
||||
for (int i = 2; i < covariates.length; i++) {
|
||||
if (keys[i] < 0)
|
||||
continue;
|
||||
|
||||
incrementDatumOrPutIfNecessary(recalibrationTables.getTable(i), qual, isError, keys[0], keys[1], keys[i], eventIndex);
|
||||
}
|
||||
}
|
||||
}
|
||||
}
|
||||
|
||||
/**
|
||||
|
|
@ -90,10 +79,6 @@ public class StandardRecalibrationEngine implements RecalibrationEngine, PublicP
|
|||
* @param isError whether or not the observation is an error
|
||||
* @return a new RecalDatum object with the observation and the error
|
||||
*/
|
||||
protected RecalDatum createDatumObject(final byte reportedQual, final boolean isError) {
|
||||
return new RecalDatum(1, isError ? 1:0, reportedQual);
|
||||
}
|
||||
|
||||
protected RecalDatum createDatumObject(final byte reportedQual, final double isError) {
|
||||
return new RecalDatum(1, isError, reportedQual);
|
||||
}
|
||||
|
|
@ -108,46 +93,6 @@ public class StandardRecalibrationEngine implements RecalibrationEngine, PublicP
|
|||
return (ReadCovariates) read.getTemporaryAttribute(BaseRecalibrator.COVARS_ATTRIBUTE);
|
||||
}
|
||||
|
||||
/**
|
||||
* Increments the RecalDatum at the specified position in the specified table, or put a new item there
|
||||
* if there isn't already one.
|
||||
*
|
||||
* Does this in a thread-safe way WITHOUT being synchronized: relies on the behavior of NestedIntegerArray.put()
|
||||
* to return false if another thread inserts a new item at our position in the middle of our put operation.
|
||||
*
|
||||
* @param table the table that holds/will hold our item
|
||||
* @param qual qual for this event
|
||||
* @param isError error status for this event
|
||||
* @param keys location in table of our item
|
||||
*/
|
||||
protected void incrementDatumOrPutIfNecessary( final NestedIntegerArray<RecalDatum> table, final byte qual, final boolean isError, final int... keys ) {
|
||||
final RecalDatum existingDatum = table.get(keys);
|
||||
|
||||
// There are three cases here:
|
||||
//
|
||||
// 1. The original get succeeded (existingDatum != null) because there already was an item in this position.
|
||||
// In this case we can just increment the existing item.
|
||||
//
|
||||
// 2. The original get failed (existingDatum == null), and we successfully put a new item in this position
|
||||
// and are done.
|
||||
//
|
||||
// 3. The original get failed (existingDatum == null), AND the put fails because another thread comes along
|
||||
// in the interim and puts an item in this position. In this case we need to do another get after the
|
||||
// failed put to get the item the other thread put here and increment it.
|
||||
if ( existingDatum == null ) {
|
||||
// No existing item, try to put a new one
|
||||
if ( ! table.put(createDatumObject(qual, isError), keys) ) {
|
||||
// Failed to put a new item because another thread came along and put an item here first.
|
||||
// Get the newly-put item and increment it (item is guaranteed to exist at this point)
|
||||
table.get(keys).increment(isError);
|
||||
}
|
||||
}
|
||||
else {
|
||||
// Easy case: already an item here, so increment it
|
||||
existingDatum.increment(isError);
|
||||
}
|
||||
}
|
||||
|
||||
/**
|
||||
* Increments the RecalDatum at the specified position in the specified table, or put a new item there
|
||||
* if there isn't already one.
|
||||
|
|
@ -177,36 +122,6 @@ public class StandardRecalibrationEngine implements RecalibrationEngine, PublicP
|
|||
}
|
||||
}
|
||||
|
||||
/**
|
||||
* Combines the RecalDatum at the specified position in the specified table with a new RecalDatum, or put a
|
||||
* new item there if there isn't already one.
|
||||
*
|
||||
* Does this in a thread-safe way WITHOUT being synchronized: relies on the behavior of NestedIntegerArray.put()
|
||||
* to return false if another thread inserts a new item at our position in the middle of our put operation.
|
||||
*
|
||||
* @param table the table that holds/will hold our item
|
||||
* @param qual qual for this event
|
||||
* @param isError error status for this event
|
||||
* @param keys location in table of our item
|
||||
*/
|
||||
protected void combineDatumOrPutIfNecessary( final NestedIntegerArray<RecalDatum> table, final byte qual, final boolean isError, final int... keys ) {
|
||||
final RecalDatum existingDatum = table.get(keys);
|
||||
final RecalDatum newDatum = createDatumObject(qual, isError);
|
||||
|
||||
if ( existingDatum == null ) {
|
||||
// No existing item, try to put a new one
|
||||
if ( ! table.put(newDatum, keys) ) {
|
||||
// Failed to put a new item because another thread came along and put an item here first.
|
||||
// Get the newly-put item and combine it with our item (item is guaranteed to exist at this point)
|
||||
table.get(keys).combine(newDatum);
|
||||
}
|
||||
}
|
||||
else {
|
||||
// Easy case: already an item here, so combine it with our item
|
||||
existingDatum.combine(newDatum);
|
||||
}
|
||||
}
|
||||
|
||||
/**
|
||||
* Combines the RecalDatum at the specified position in the specified table with a new RecalDatum, or put a
|
||||
* new item there if there isn't already one.
|
||||
|
|
|
|||
|
|
@ -46,16 +46,20 @@ import java.util.Set;
|
|||
|
||||
|
||||
/**
|
||||
* Strictly validates a variants file.
|
||||
* Validates a VCF file with an extra strict set of criteria.
|
||||
*
|
||||
* <p>
|
||||
* ValidateVariants is a GATK tool that takes a VCF file and validates much of the information inside it.
|
||||
* Checks include the correctness of the reference base(s), accuracy of AC & AN values, tests against rsIDs
|
||||
* when a dbSNP file is provided, and that all alternate alleles are present in at least one sample.
|
||||
* In addition to standard adherence to the VCF specification, this tool performs extra checks to make ensure
|
||||
* the information contained within the file is correct. Checks include the correctness of the reference base(s),
|
||||
* accuracy of AC & AN values, tests against rsIDs when a dbSNP file is provided, and that all alternate alleles
|
||||
* are present in at least one sample.
|
||||
*
|
||||
* If you are looking simply to test the adherence to the VCF specification, use --validationType NONE.
|
||||
*
|
||||
* <h2>Input</h2>
|
||||
* <p>
|
||||
* A variant set to filter.
|
||||
* A variant set to validate.
|
||||
* </p>
|
||||
*
|
||||
* <h2>Examples</h2>
|
||||
|
|
@ -79,10 +83,9 @@ public class ValidateVariants extends RodWalker<Integer, Integer> {
|
|||
protected DbsnpArgumentCollection dbsnp = new DbsnpArgumentCollection();
|
||||
|
||||
public enum ValidationType {
|
||||
ALL, REF, IDS, ALLELES, CHR_COUNTS
|
||||
ALL, REF, IDS, ALLELES, CHR_COUNTS, NONE
|
||||
}
|
||||
|
||||
@Hidden
|
||||
@Argument(fullName = "validationType", shortName = "type", doc = "which validation type to run", required = false)
|
||||
protected ValidationType type = ValidationType.ALL;
|
||||
|
||||
|
|
@ -172,7 +175,7 @@ public class ValidateVariants extends RodWalker<Integer, Integer> {
|
|||
numErrors++;
|
||||
logger.warn("***** " + e.getMessage() + " *****");
|
||||
} else {
|
||||
throw new UserException.MalformedFile(file, e.getMessage());
|
||||
throw new UserException.FailsStrictValidation(file, e.getMessage());
|
||||
}
|
||||
}
|
||||
}
|
||||
|
|
|
|||
|
|
@ -160,7 +160,7 @@ public class VariantsToVCF extends RodWalker<Integer, Integer> {
|
|||
|
||||
Map<String, Allele> alleleMap = new HashMap<String, Allele>(2);
|
||||
alleleMap.put(RawHapMapFeature.DELETION, Allele.create(ref.getBase(), dbsnpVC.isSimpleInsertion()));
|
||||
alleleMap.put(RawHapMapFeature.INSERTION, Allele.create(ref.getBase() + ((RawHapMapFeature)record).getAlleles()[1], !dbsnpVC.isSimpleInsertion()));
|
||||
alleleMap.put(RawHapMapFeature.INSERTION, Allele.create((char)ref.getBase() + ((RawHapMapFeature)record).getAlleles()[1], !dbsnpVC.isSimpleInsertion()));
|
||||
hapmap.setActualAlleles(alleleMap);
|
||||
|
||||
// also, use the correct positioning for insertions
|
||||
|
|
|
|||
|
|
@ -283,6 +283,12 @@ public class UserException extends ReviewedStingException {
|
|||
}
|
||||
}
|
||||
|
||||
public static class FailsStrictValidation extends UserException {
|
||||
public FailsStrictValidation(File f, String message) {
|
||||
super(String.format("File %s fails strict validation: %s", f.getAbsolutePath(), message));
|
||||
}
|
||||
}
|
||||
|
||||
public static class MalformedFile extends UserException {
|
||||
public MalformedFile(String message) {
|
||||
super(String.format("Unknown file is malformed: %s", message));
|
||||
|
|
|
|||
|
|
@ -1071,15 +1071,17 @@ public class VariantContext implements Feature { // to enable tribble integratio
|
|||
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("the ALT allele(s) for the record at position %s:%d do not match what is observed in the per-sample genotypes", getChr(), getStart()));
|
||||
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("the ALT allele(s) for the record at position %s:%d do not match what is observed in the per-sample genotypes", getChr(), getStart()));
|
||||
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() {
|
||||
|
|
|
|||
|
|
@ -361,7 +361,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
|||
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("9a7cd58b9e3d5b72608c0d529321deba"));
|
||||
Arrays.asList("d76eacc4021b78ccc0a9026162e814a7"));
|
||||
executeTest("test GENOTYPE_GIVEN_ALLELES with no evidence in reads", spec);
|
||||
}
|
||||
|
||||
|
|
@ -451,7 +451,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
|||
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("1b711c0966a2f76eb21801e73b76b758"));
|
||||
Arrays.asList("9a7cd58b9e3d5b72608c0d529321deba"));
|
||||
executeTest("test calling on a ReducedRead BAM", spec);
|
||||
}
|
||||
|
||||
|
|
|
|||
|
|
@ -354,7 +354,7 @@ public class VariantEvalIntegrationTest extends WalkerTest {
|
|||
@Test
|
||||
public void testCompOverlap() {
|
||||
String extraArgs = "-T VariantEval -R " + b37KGReference + " -L " + variantEvalTestDataRoot + "pacbio.hg19.intervals --comp:comphapmap " + comparisonDataLocation + "Validated/HapMap/3.3/genotypes_r27_nr.b37_fwd.vcf --eval " + variantEvalTestDataRoot + "pacbio.ts.recalibrated.vcf -noEV -EV CompOverlap -sn NA12878 -noST -ST Novelty -o %s";
|
||||
WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("59ad39e03678011b5f62492fa83ede04"));
|
||||
WalkerTestSpec spec = new WalkerTestSpec(extraArgs,1,Arrays.asList("d0d9208060e69e157dac3bf01bdd83b0"));
|
||||
executeTestParallel("testCompOverlap",spec);
|
||||
}
|
||||
|
||||
|
|
|
|||
|
|
@ -26,9 +26,9 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest {
|
|||
}
|
||||
|
||||
VRTest lowPass = new VRTest(validationDataLocation + "phase1.projectConsensus.chr20.raw.snps.vcf",
|
||||
"f360ce3eb2b0b887301be917a9843e2b", // tranches
|
||||
"287fea5ea066bf3fdd71f5ce9b58eab3", // recal file
|
||||
"afa297c743437551cc2bd36ddd6d6d75"); // cut VCF
|
||||
"4d08c8eee61dd1bdea8c5765f34e41f0", // tranches
|
||||
"ce396fe4045e020b61471f6737dff36e", // recal file
|
||||
"4f59bd61be900b25c6ecedaa68b9c8de"); // cut VCF
|
||||
|
||||
@DataProvider(name = "VRTest")
|
||||
public Object[][] createData1() {
|
||||
|
|
@ -75,9 +75,9 @@ public class VariantRecalibrationWalkersIntegrationTest extends WalkerTest {
|
|||
}
|
||||
|
||||
VRTest bcfTest = new VRTest(privateTestDir + "vqsr.bcf_test.snps.unfiltered.bcf",
|
||||
"a8ce3cd3dccafdf7d580bcce7d660a9a", // tranches
|
||||
"74c10fc15f9739a938b7138909fbde04", // recal file
|
||||
"c30d163871a37f2bbf8ee7f761e870b4"); // cut VCF
|
||||
"6a1eef4d02857dbb117a15420b5c0ce9", // tranches
|
||||
"238366af66b05b6d21749e799c25353d", // recal file
|
||||
"3928d6bc5007becf52312ade70f14c42"); // cut VCF
|
||||
|
||||
@DataProvider(name = "VRBCFTest")
|
||||
public Object[][] createVRBCFTest() {
|
||||
|
|
|
|||
|
|
@ -20,7 +20,7 @@ public class SelectVariantsIntegrationTest extends WalkerTest {
|
|||
+ b37hapmapGenotypes + " -disc " + testFile
|
||||
+ " -o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING",
|
||||
1,
|
||||
Arrays.asList("d88bdae45ae0e74e8d8fd196627e612c")
|
||||
Arrays.asList("954415f84996d27b07d00855e96d33a2")
|
||||
);
|
||||
spec.disableShadowBCF();
|
||||
|
||||
|
|
@ -49,7 +49,7 @@ public class SelectVariantsIntegrationTest extends WalkerTest {
|
|||
+ b37hapmapGenotypes + " -disc " + testFile
|
||||
+ " -o %s --no_cmdline_in_header -U LENIENT_VCF_PROCESSING",
|
||||
1,
|
||||
Arrays.asList("c0b937edb6a8b6392d477511d4f1ebcf")
|
||||
Arrays.asList("ca1b5226eaeaffb78d4abd9d2ee10c43")
|
||||
);
|
||||
spec.disableShadowBCF();
|
||||
|
||||
|
|
|
|||
|
|
@ -33,6 +33,8 @@ import java.util.Arrays;
|
|||
|
||||
public class ValidateVariantsIntegrationTest extends WalkerTest {
|
||||
|
||||
protected static final String emptyMd5 = "d41d8cd98f00b204e9800998ecf8427e";
|
||||
|
||||
public static String baseTestString(String file, String type) {
|
||||
return "-T ValidateVariants -R " + b36KGReference + " -L 1:10001292-10001303 --variant:vcf " + privateTestDir + file + " --validationType " + type;
|
||||
}
|
||||
|
|
@ -42,7 +44,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleGood.vcf", "ALL"),
|
||||
0,
|
||||
Arrays.asList("d41d8cd98f00b204e9800998ecf8427e")
|
||||
Arrays.asList(emptyMd5)
|
||||
);
|
||||
|
||||
executeTest("test good file", spec);
|
||||
|
|
@ -53,7 +55,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad.vcf", "REF"),
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad ref base #1", spec);
|
||||
|
|
@ -64,7 +66,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad2.vcf", "REF"),
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad ref base #2", spec);
|
||||
|
|
@ -75,7 +77,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad.vcf", "CHR_COUNTS"),
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad chr counts #1", spec);
|
||||
|
|
@ -86,7 +88,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad2.vcf", "CHR_COUNTS"),
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad chr counts #2", spec);
|
||||
|
|
@ -97,7 +99,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad.vcf", "IDS") + " --dbsnp " + b36dbSNP129,
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad RS ID", spec);
|
||||
|
|
@ -108,7 +110,7 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad.vcf", "ALLELES"),
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad alt allele", spec);
|
||||
|
|
@ -119,18 +121,29 @@ public class ValidateVariantsIntegrationTest extends WalkerTest {
|
|||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad3.vcf", "REF"),
|
||||
0,
|
||||
UserException.MalformedFile.class
|
||||
UserException.FailsStrictValidation.class
|
||||
);
|
||||
|
||||
executeTest("test bad ref allele in deletion", spec);
|
||||
}
|
||||
|
||||
@Test
|
||||
public void testNoValidation() {
|
||||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("validationExampleBad.vcf", "NONE"),
|
||||
0,
|
||||
Arrays.asList(emptyMd5)
|
||||
);
|
||||
|
||||
executeTest("test no validation", spec);
|
||||
}
|
||||
|
||||
@Test
|
||||
public void testComplexEvents() {
|
||||
WalkerTestSpec spec = new WalkerTestSpec(
|
||||
baseTestString("complexEvents.vcf", "ALL"),
|
||||
0,
|
||||
Arrays.asList("d41d8cd98f00b204e9800998ecf8427e")
|
||||
Arrays.asList(emptyMd5)
|
||||
);
|
||||
|
||||
executeTest("test validating complex events", spec);
|
||||
|
|
|
|||
|
|
@ -141,8 +141,8 @@ class GATKResourcesBundle extends QScript {
|
|||
// CEU trio (NA12878,NA12891,NA12892) best practices results (including PBT)
|
||||
//
|
||||
|
||||
addResource(new Resource("/humgen/gsa-hpprojects/NA12878Collection/callsets/CEUtrio_BestPractices/current/CEUTrio.HiSeq.WGS.b37.UG.snps_and_indels.recalibrated.filtered.phaseByTransmission.vcf",
|
||||
"CEUTrio.HiSeq.WGS.b37.UG.bestPractices.phaseByTransmission",b37,true,false))
|
||||
addResource(new Resource("/humgen/gsa-hpprojects/NA12878Collection/callsets/CEUtrio_BestPractices/CEUTrio.HiSeq.WGS.b37.snps_and_indels.recalibrated.filtered.phased.CURRENT.vcf",
|
||||
"CEUTrio.HiSeq.WGS.b37.bestPractices.phased",b37,true,false))
|
||||
|
||||
//
|
||||
// example call set for wiki tutorial
|
||||
|
|
@ -317,6 +317,7 @@ class GATKResourcesBundle extends QScript {
|
|||
class UG(@Input bam: File, @Input ref: File, @Input outVCF: File) extends UnifiedGenotyper with UNIVERSAL_GATK_ARGS {
|
||||
this.input_file = List(bam)
|
||||
this.reference_sequence = ref
|
||||
this.intervalsString ++= List("20");
|
||||
this.out = outVCF
|
||||
}
|
||||
|
||||
|
|
|
|||
|
|
@ -60,7 +60,7 @@ class DataProcessingPipelineTest {
|
|||
" -bwa /home/unix/carneiro/bin/bwa",
|
||||
" -bwape ",
|
||||
" -p " + projectName).mkString
|
||||
spec.fileMD5s += testOut -> "6e70efbe6bafc3fedd60bd406bd201db"
|
||||
spec.fileMD5s += testOut -> "9fca827ecc8436465b831bb6f879357a"
|
||||
PipelineTest.executeTest(spec)
|
||||
}
|
||||
|
||||
|
|
|
|||
|
|
@ -40,7 +40,7 @@ class PacbioProcessingPipelineTest {
|
|||
" -blasr ",
|
||||
" -test ",
|
||||
" -D " + BaseTest.publicTestDir + "exampleDBSNP.vcf").mkString
|
||||
spec.fileMD5s += testOut -> "61b06e8b78a93e6644657e6d38851084"
|
||||
spec.fileMD5s += testOut -> "b84f9c45e045685067ded681d5e6224c"
|
||||
PipelineTest.executeTest(spec)
|
||||
}
|
||||
}
|
||||
|
|
|
|||
Loading…
Reference in New Issue