diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java index 97a4ac468..6eea12e2b 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java @@ -5,12 +5,10 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; -import java.util.Arrays; -import java.util.HashMap; -import java.util.LinkedHashMap; -import java.util.List; +import java.util.*; /** @@ -31,8 +29,31 @@ public class BaseQualityRankSumTest extends RankSumTest { altQuals.add((double)p.getQual()); } } - } + protected void fillQualsFromPileup(final Allele ref, final List alts, final Map> stratifiedContext, final List refQuals, List altQuals) { + // TODO -- implement me; how do we pull out the correct offset from the read? + return; + +/* + for ( final Map.Entry> alleleBin : stratifiedContext.entrySet() ) { + final boolean matchesRef = ref.equals(alleleBin.getKey()); + final boolean matchesAlt = alts.contains(alleleBin.getKey()); + if ( !matchesRef && !matchesAlt ) + continue; + + for ( final GATKSAMRecord read : alleleBin.getValue() ) { + + if ( isUsableBase(p) ) { + if ( matchesRef ) + refQuals.add((double)p.getQual()); + else + altQuals.add((double)p.getQual()); + } + } + } +*/ + } + protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List refQuals, List altQuals) { // equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele ? HashMap> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java index 0acd3e841..b3a8dbebd 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java @@ -28,6 +28,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; @@ -35,6 +36,8 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; @@ -49,7 +52,7 @@ import java.util.Map; * allele Frequency, for each ALT allele, in the same order as listed; total number * of alleles in called genotypes. */ -public class ChromosomeCounts extends InfoFieldAnnotation implements StandardAnnotation { +public class ChromosomeCounts extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { private String[] keyNames = { VCFConstants.ALLELE_NUMBER_KEY, VCFConstants.ALLELE_COUNT_KEY, VCFConstants.ALLELE_FREQUENCY_KEY }; private VCFInfoHeaderLine[] descriptions = { new VCFInfoHeaderLine(VCFConstants.ALLELE_FREQUENCY_KEY, VCFHeaderLineCount.A, VCFHeaderLineType.Float, "Allele Frequency, for each ALT allele, in the same order as listed"), @@ -63,6 +66,13 @@ public class ChromosomeCounts extends InfoFieldAnnotation implements StandardAnn return VariantContextUtils.calculateChromosomeCounts(vc, new HashMap(), true); } + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + if ( ! vc.hasGenotypes() ) + return null; + + return VariantContextUtils.calculateChromosomeCounts(vc, new HashMap(), true); + } + public List getKeyNames() { return Arrays.asList(keyNames); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java index b744fec46..f94d48893 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java @@ -3,12 +3,15 @@ package org.broadinstitute.sting.gatk.walkers.annotator; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; @@ -33,7 +36,7 @@ import java.util.Map; * Note that the DP is affected by downsampling (-dcov) though, so the max value one can obtain for N samples with * -dcov D is N * D */ -public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnnotation { +public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) @@ -47,6 +50,22 @@ public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnno return map; } + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + if ( stratifiedContexts.size() == 0 ) + return null; + + int depth = 0; + for ( final Map> alleleBins : stratifiedContexts.values() ) { + for ( final List alleleBin : alleleBins.values() ) { + depth += alleleBin.size(); + } + } + + Map map = new HashMap(); + map.put(getKeyNames().get(0), String.format("%d", depth)); + return map; + } + public List getKeyNames() { return Arrays.asList(VCFConstants.DEPTH_KEY); } public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Integer, "Approximate read depth; some reads may have been filtered")); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java index 817d6b1ff..0d3bd11a7 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java @@ -28,6 +28,7 @@ import cern.jet.math.Arithmetic; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; @@ -37,6 +38,7 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -49,7 +51,7 @@ import java.util.*; * indicative of false positive calls. Note that the fisher strand test may not be * calculated for certain complex indel cases or for multi-allelic sites. */ -public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotation { +public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { private static final String FS = "FS"; private static final double MIN_PVALUE = 1E-320; @@ -78,6 +80,22 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat return map; } + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + if ( !vc.isVariant() ) + return null; + + int[][] table = getContingencyTable(stratifiedContexts, vc.getReference(), vc.getAltAlleleWithHighestAlleleCount()); + + Double pvalue = Math.max(pValueForContingencyTable(table), MIN_PVALUE); + if ( pvalue == null ) + return null; + + Map map = new HashMap(); + map.put(FS, String.format("%.3f", QualityUtils.phredScaleErrorRate(pvalue))); + return map; + + } + public List getKeyNames() { return Arrays.asList(FS); } @@ -193,6 +211,38 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat return sum; } + /** + Allocate and fill a 2x2 strand contingency table. In the end, it'll look something like this: + * fw rc + * allele1 # # + * allele2 # # + * @return a 2x2 contingency table + */ + private static int[][] getContingencyTable(Map>> stratifiedContexts, Allele ref, Allele alt) { + int[][] table = new int[2][2]; + + for ( final Map> alleleBins : stratifiedContexts.values() ) { + for ( final Map.Entry> alleleBin : alleleBins.entrySet() ) { + + final boolean matchesRef = ref.equals(alleleBin.getKey()); + final boolean matchesAlt = alt.equals(alleleBin.getKey()); + if ( !matchesRef && !matchesAlt ) + continue; + + for ( final GATKSAMRecord read : alleleBin.getValue() ) { + boolean isFW = read.getReadNegativeStrandFlag(); + + int row = matchesRef ? 0 : 1; + int column = isFW ? 0 : 1; + + table[row][column]++; + } + } + } + + return table; + } + /** Allocate and fill a 2x2 strand contingency table. In the end, it'll look something like this: * fw rc @@ -214,8 +264,8 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat Allele base = Allele.create(p.getBase(), false); boolean isFW = !p.getRead().getReadNegativeStrandFlag(); - boolean matchesRef = ref.equals(base, true); - boolean matchesAlt = alt.equals(base, true); + final boolean matchesRef = ref.equals(base, true); + final boolean matchesAlt = alt.equals(base, true); if ( matchesRef || matchesAlt ) { int row = matchesRef ? 0 : 1; int column = isFW ? 0 : 1; @@ -227,6 +277,7 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat return table; } + /** Allocate and fill a 2x2 strand contingency table. In the end, it'll look something like this: * fw rc diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java index 6366890d5..57561a277 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java @@ -3,12 +3,15 @@ package org.broadinstitute.sting.gatk.walkers.annotator; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -27,12 +30,19 @@ import java.util.Map; * more information. Note that the Inbreeding Coefficient will not be calculated for files * with fewer than a minimum (generally 10) number of samples. */ -public class InbreedingCoeff extends InfoFieldAnnotation implements StandardAnnotation { +public class InbreedingCoeff extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { private static final int MIN_SAMPLES = 10; public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + return calculateIC(vc); + } + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + return calculateIC(vc); + } + + private Map calculateIC(final VariantContext vc) { final GenotypesContext genotypes = vc.getGenotypes(); if ( genotypes == null || genotypes.size() < MIN_SAMPLES ) return null; diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java index aa4f26ef3..520b0f232 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java @@ -6,12 +6,10 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; -import java.util.Arrays; -import java.util.HashMap; -import java.util.LinkedHashMap; -import java.util.List; +import java.util.*; /** @@ -35,6 +33,23 @@ public class MappingQualityRankSumTest extends RankSumTest { } } } + + protected void fillQualsFromPileup(final Allele ref, final List alts, final Map> stratifiedContext, final List refQuals, List altQuals) { + for ( final Map.Entry> alleleBin : stratifiedContext.entrySet() ) { + final boolean matchesRef = ref.equals(alleleBin.getKey()); + final boolean matchesAlt = alts.contains(alleleBin.getKey()); + if ( !matchesRef && !matchesAlt ) + continue; + + for ( final GATKSAMRecord read : alleleBin.getValue() ) { + if ( matchesRef ) + refQuals.add((double)read.getMappingQuality()); + else + altQuals.add((double)read.getMappingQuality()); + } + } + } + protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List refQuals, List altQuals) { // equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele ? HashMap> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(); diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java index bf60dec6b..24a107235 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java @@ -3,11 +3,14 @@ package org.broadinstitute.sting.gatk.walkers.annotator; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext; @@ -23,7 +26,7 @@ import java.util.Map; * Low scores are indicative of false positive calls and artifacts. Note that QualByDepth requires sequencing * reads associated with the samples with polymorphic genotypes. */ -public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotation { +public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) @@ -62,4 +65,40 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "Variant Confidence/Quality by Depth")); } + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + if ( stratifiedContexts.size() == 0 ) + return null; + + final GenotypesContext genotypes = vc.getGenotypes(); + if ( genotypes == null || genotypes.size() == 0 ) + return null; + + int depth = 0; + + for ( final Genotype genotype : genotypes ) { + + // we care only about variant calls with likelihoods + if ( !genotype.isHet() && !genotype.isHomVar() ) + continue; + + final Map> alleleBins = stratifiedContexts.get(genotype.getSampleName()); + if ( alleleBins == null ) + continue; + + for ( final Map.Entry> alleleBin : alleleBins.entrySet() ) { + if ( !alleleBin.getKey().equals(Allele.NO_CALL) ) + depth += alleleBin.getValue().size(); + } + } + + if ( depth == 0 ) + return null; + + double QD = -10.0 * vc.getLog10PError() / (double)depth; + + Map map = new HashMap(); + map.put(getKeyNames().get(0), String.format("%.2f", QD)); + return map; + } + } \ No newline at end of file diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java index 50ade5334..97c15e747 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java @@ -3,6 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; @@ -13,6 +14,8 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.VariantContext; import java.util.Arrays; @@ -24,7 +27,7 @@ import java.util.Map; /** * Root Mean Square of the mapping quality of the reads across all samples. */ -public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAnnotation { +public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public Map annotate(RefMetaDataTracker tracker, AnnotatorCompatibleWalker walker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { if ( stratifiedContexts.size() == 0 ) @@ -34,7 +37,7 @@ public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAn for ( AlignmentContext context : stratifiedContexts.values() ) totalSize += context.size(); - int[] qualities = new int[totalSize]; + final int[] qualities = new int[totalSize]; int index = 0; for ( Map.Entry sample : stratifiedContexts.entrySet() ) { @@ -54,6 +57,35 @@ public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAn return map; } + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + if ( stratifiedContexts.size() == 0 ) + return null; + + int depth = 0; + for ( final Map> alleleBins : stratifiedContexts.values() ) { + for ( final Map.Entry> alleleBin : alleleBins.entrySet() ) { + depth += alleleBin.getValue().size(); + } + } + + final int[] qualities = new int[depth]; + int index = 0; + + for ( final Map> alleleBins : stratifiedContexts.values() ) { + for ( final List reads : alleleBins.values() ) { + for ( final GATKSAMRecord read : reads ) { + if ( read.getMappingQuality() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE ) + qualities[index++] = read.getMappingQuality(); + } + } + } + + double rms = MathUtils.rms(qualities); + Map map = new HashMap(); + map.put(getKeyNames().get(0), String.format("%.2f", rms)); + return map; + } + public List getKeyNames() { return Arrays.asList(VCFConstants.RMS_MAPPING_QUALITY_KEY); } public List getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "RMS Mapping Quality")); } diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java index ff5f8f144..80d248ac2 100644 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java @@ -3,6 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator; 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.annotator.interfaces.ActiveRegionBasedAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatibleWalker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; @@ -12,6 +13,7 @@ import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; @@ -26,7 +28,7 @@ import java.util.Map; /** * Abstract root for all RankSum based annotations */ -public abstract class RankSumTest extends InfoFieldAnnotation implements StandardAnnotation { +public abstract class RankSumTest extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { static final double INDEL_LIKELIHOOD_THRESH = 0.1; static final boolean DEBUG = false; @@ -38,7 +40,6 @@ public abstract class RankSumTest extends InfoFieldAnnotation implements Standar if (genotypes == null || genotypes.size() == 0) return null; - final ArrayList refQuals = new ArrayList(); final ArrayList altQuals = new ArrayList(); @@ -104,12 +105,52 @@ public abstract class RankSumTest extends InfoFieldAnnotation implements Standar if (!Double.isNaN(testResults.first)) map.put(getKeyNames().get(0), String.format("%.3f", testResults.first)); return map; - } - protected abstract void fillQualsFromPileup(byte ref, List alts, ReadBackedPileup pileup, List refQuals, List altQuals); + public Map annotate(Map>> stratifiedContexts, VariantContext vc) { + if (stratifiedContexts.size() == 0) + return null; - protected abstract void fillIndelQualsFromPileup(ReadBackedPileup pileup, List refQuals, List altQuals); + final GenotypesContext genotypes = vc.getGenotypes(); + if (genotypes == null || genotypes.size() == 0) + return null; + + final ArrayList refQuals = new ArrayList(); + final ArrayList altQuals = new ArrayList(); + + for ( final Genotype genotype : genotypes.iterateInSampleNameOrder() ) { + final Map> context = stratifiedContexts.get(genotype.getSampleName()); + if ( context == null ) + continue; + + fillQualsFromPileup(vc.getReference(), vc.getAlternateAlleles(), context, refQuals, altQuals); + } + + if ( refQuals.size() == 0 || altQuals.size() == 0 ) + return null; + + final MannWhitneyU mannWhitneyU = new MannWhitneyU(); + for (final Double qual : altQuals) { + mannWhitneyU.add(qual, MannWhitneyU.USet.SET1); + } + for (final Double qual : refQuals) { + mannWhitneyU.add(qual, MannWhitneyU.USet.SET2); + } + + // we are testing that set1 (the alt bases) have lower quality scores than set2 (the ref bases) + final Pair testResults = mannWhitneyU.runOneSidedTest(MannWhitneyU.USet.SET1); + + final Map map = new HashMap(); + if (!Double.isNaN(testResults.first)) + map.put(getKeyNames().get(0), String.format("%.3f", testResults.first)); + return map; + } + + protected abstract void fillQualsFromPileup(final Allele ref, final List alts, final Map> stratifiedContext, final List refQuals, List altQuals); + + protected abstract void fillQualsFromPileup(final byte ref, final List alts, final ReadBackedPileup pileup, final List refQuals, final List altQuals); + + protected abstract void fillIndelQualsFromPileup(final ReadBackedPileup pileup, final List refQuals, final List altQuals); protected static boolean isUsableBase(final PileupElement p) { return !(p.isInsertionAtBeginningOfRead() || diff --git a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java index a998cd08b..e013f0e08 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java @@ -11,12 +11,10 @@ import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.sam.AlignmentUtils; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.variantcontext.Allele; -import java.util.Arrays; -import java.util.HashMap; -import java.util.LinkedHashMap; -import java.util.List; +import java.util.*; /** * The phred-scaled p-value (u-based z-approximation) from the Mann-Whitney Rank Sum Test for the distance from the end of the read for reads with the alternate allele; if the alternate allele is only seen near the ends of reads this is indicative of error). @@ -49,6 +47,27 @@ public class ReadPosRankSumTest extends RankSumTest { } } + protected void fillQualsFromPileup(final Allele ref, final List alts, final Map> stratifiedContext, final List refQuals, List altQuals) { + // TODO -- implement me; how do we pull out the correct offset from the read? + return; + +/* + for ( final Map.Entry> alleleBin : stratifiedContext.entrySet() ) { + final boolean matchesRef = ref.equals(alleleBin.getKey()); + final boolean matchesAlt = alts.contains(alleleBin.getKey()); + if ( !matchesRef && !matchesAlt ) + continue; + + for ( final GATKSAMRecord read : alleleBin.getValue() ) { + if ( matchesRef ) + refQuals.add((double)read.getMappingQuality()); + else + altQuals.add((double)read.getMappingQuality()); + } + } +*/ + } + protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List refQuals, List altQuals) { // equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele // to classify a pileup element as ref or alt, we look at the likelihood associated with the allele associated to this element. 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 90d0ad740..413c32a24 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java @@ -33,10 +33,8 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.*; import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.exceptions.UserException; -import org.broadinstitute.sting.utils.variantcontext.Genotype; -import org.broadinstitute.sting.utils.variantcontext.GenotypesContext; -import org.broadinstitute.sting.utils.variantcontext.VariantContext; -import org.broadinstitute.sting.utils.variantcontext.VariantContextBuilder; +import org.broadinstitute.sting.utils.sam.GATKSAMRecord; +import org.broadinstitute.sting.utils.variantcontext.*; import java.util.*; @@ -94,6 +92,13 @@ public class VariantAnnotatorEngine { initializeDBs(); } + // experimental constructor for active region traversal + public VariantAnnotatorEngine(GenomeAnalysisEngine toolkit) { + this.walker = null; + this.toolkit = toolkit; + requestedInfoAnnotations = AnnotationInterfaceManager.createInfoFieldAnnotations(Arrays.asList("ActiveRegionBasedAnnotation"), Collections.emptyList()); + } + // select specific expressions to use public void initializeExpressions(List expressionsToUse) { // set up the expressions @@ -169,7 +174,7 @@ public class VariantAnnotatorEngine { this.requireStrictAlleleMatch = requireStrictAlleleMatch; } - public VariantContext annotateContext(RefMetaDataTracker tracker, ReferenceContext ref, Map stratifiedContexts, VariantContext vc) { + public VariantContext annotateContext(final RefMetaDataTracker tracker, final ReferenceContext ref, final Map stratifiedContexts, VariantContext vc) { Map infoAnnotations = new LinkedHashMap(vc.getAttributes()); // annotate db occurrences @@ -192,6 +197,20 @@ public class VariantAnnotatorEngine { return builder.genotypes(annotateGenotypes(tracker, ref, stratifiedContexts, vc)).make(); } + public VariantContext annotateContext(final Map>> stratifiedContexts, VariantContext vc) { + Map infoAnnotations = new LinkedHashMap(vc.getAttributes()); + + // go through all the requested info annotationTypes + for ( InfoFieldAnnotation annotationType : requestedInfoAnnotations ) { + Map annotationsFromCurrentType = ((ActiveRegionBasedAnnotation)annotationType).annotate(stratifiedContexts, vc); + if ( annotationsFromCurrentType != null ) + infoAnnotations.putAll(annotationsFromCurrentType); + } + + // generate a new annotated VC + return new VariantContextBuilder(vc).attributes(infoAnnotations).make(); + } + private VariantContext annotateDBs(RefMetaDataTracker tracker, ReferenceContext ref, VariantContext vc, 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/ActiveRegionBasedAnnotation.java b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/ActiveRegionBasedAnnotation.java index 2c1bb0974..de61c7741 100755 --- a/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/ActiveRegionBasedAnnotation.java +++ b/public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/ActiveRegionBasedAnnotation.java @@ -9,7 +9,7 @@ import java.util.List; import java.util.Map; // TODO -- make this an abstract class when we move away from InfoFieldAnnotation -public interface ActiveRegionBasedAnnotation { +public interface ActiveRegionBasedAnnotation extends AnnotationType { // return annotations for the given contexts split by sample and then allele public abstract Map annotate(final Map>> stratifiedContexts, final VariantContext vc);