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Merge branch 'master' of ssh://gsa2.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable

This commit is contained in:
Menachem Fromer 2012-08-22 15:26:39 -04:00
parent 37dd7209df fe3069b278
commit b1b9c0b132
90 changed files with 1826 additions and 1270 deletions
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8
protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/ErrorModel.java
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@ -53,13 +53,14 @@ public class ErrorModel {
PairHMMIndelErrorModel pairModel = null; PairHMMIndelErrorModel pairModel = null;
LinkedHashMap<Allele, Haplotype> haplotypeMap = null; LinkedHashMap<Allele, Haplotype> haplotypeMap = null;
HashMap<PileupElement, LinkedHashMap<Allele, Double>> indelLikelihoodMap = null;
double[][] perReadLikelihoods = null; double[][] perReadLikelihoods = null;
double[] model = new double[maxQualityScore+1]; double[] model = new double[maxQualityScore+1];
Arrays.fill(model,Double.NEGATIVE_INFINITY); Arrays.fill(model,Double.NEGATIVE_INFINITY);
boolean hasCalledAlleles = false; boolean hasCalledAlleles = false;
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = new PerReadAlleleLikelihoodMap();
if (refSampleVC != null) { if (refSampleVC != null) {
for (Allele allele : refSampleVC.getAlleles()) { for (Allele allele : refSampleVC.getAlleles()) {
@ -72,7 +73,6 @@ public class ErrorModel {
if (refSampleVC.isIndel()) { if (refSampleVC.isIndel()) {
pairModel = new PairHMMIndelErrorModel(UAC.INDEL_GAP_OPEN_PENALTY, UAC.INDEL_GAP_CONTINUATION_PENALTY, pairModel = new PairHMMIndelErrorModel(UAC.INDEL_GAP_OPEN_PENALTY, UAC.INDEL_GAP_CONTINUATION_PENALTY,
UAC.OUTPUT_DEBUG_INDEL_INFO, !UAC.DONT_DO_BANDED_INDEL_COMPUTATION); UAC.OUTPUT_DEBUG_INDEL_INFO, !UAC.DONT_DO_BANDED_INDEL_COMPUTATION);
indelLikelihoodMap = new HashMap<PileupElement, LinkedHashMap<Allele, Double>>();
IndelGenotypeLikelihoodsCalculationModel.getHaplotypeMapFromAlleles(refSampleVC.getAlleles(), refContext, refContext.getLocus(), haplotypeMap); // will update haplotypeMap adding elements IndelGenotypeLikelihoodsCalculationModel.getHaplotypeMapFromAlleles(refSampleVC.getAlleles(), refContext, refContext.getLocus(), haplotypeMap); // will update haplotypeMap adding elements
} }
} }
@ -92,12 +92,12 @@ public class ErrorModel {
Allele refAllele = refSampleVC.getReference(); Allele refAllele = refSampleVC.getReference();
if (refSampleVC.isIndel()) { if ( refSampleVC.isIndel()) {
final int readCounts[] = new int[refSamplePileup.getNumberOfElements()]; final int readCounts[] = new int[refSamplePileup.getNumberOfElements()];
//perReadLikelihoods = new double[readCounts.length][refSampleVC.getAlleles().size()]; //perReadLikelihoods = new double[readCounts.length][refSampleVC.getAlleles().size()];
final int eventLength = IndelGenotypeLikelihoodsCalculationModel.getEventLength(refSampleVC.getAlleles()); final int eventLength = IndelGenotypeLikelihoodsCalculationModel.getEventLength(refSampleVC.getAlleles());
if (!haplotypeMap.isEmpty()) if (!haplotypeMap.isEmpty())
perReadLikelihoods = pairModel.computeGeneralReadHaplotypeLikelihoods(refSamplePileup,haplotypeMap,refContext, eventLength, indelLikelihoodMap, readCounts); perReadLikelihoods = pairModel.computeGeneralReadHaplotypeLikelihoods(refSamplePileup,haplotypeMap,refContext, eventLength, perReadAlleleLikelihoodMap, readCounts);
} }
int idx = 0; int idx = 0;
for (PileupElement refPileupElement : refSamplePileup) { for (PileupElement refPileupElement : refSamplePileup) {

28
protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GeneralPloidyGenotypeLikelihoodsCalculationModel.java
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@ -41,15 +41,6 @@ import java.util.*;
public abstract class GeneralPloidyGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsCalculationModel { public abstract class GeneralPloidyGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsCalculationModel {
//protected Set<String> laneIDs;
public enum Model {
SNP,
INDEL,
POOLSNP,
POOLINDEL,
BOTH
}
final protected UnifiedArgumentCollection UAC; final protected UnifiedArgumentCollection UAC;
protected GeneralPloidyGenotypeLikelihoodsCalculationModel(UnifiedArgumentCollection UAC, Logger logger) { protected GeneralPloidyGenotypeLikelihoodsCalculationModel(UnifiedArgumentCollection UAC, Logger logger) {
@ -203,7 +194,8 @@ public abstract class GeneralPloidyGenotypeLikelihoodsCalculationModel extends G
final AlignmentContextUtils.ReadOrientation contextType, final AlignmentContextUtils.ReadOrientation contextType,
final List<Allele> allAllelesToUse, final List<Allele> allAllelesToUse,
final boolean useBAQedPileup, final boolean useBAQedPileup,
final GenomeLocParser locParser) { final GenomeLocParser locParser,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
HashMap<String, ErrorModel> perLaneErrorModels = getPerLaneErrorModels(tracker, ref, contexts); HashMap<String, ErrorModel> perLaneErrorModels = getPerLaneErrorModels(tracker, ref, contexts);
if (perLaneErrorModels == null && UAC.referenceSampleName != null) if (perLaneErrorModels == null && UAC.referenceSampleName != null)
@ -215,8 +207,11 @@ public abstract class GeneralPloidyGenotypeLikelihoodsCalculationModel extends G
newContext.put(DUMMY_SAMPLE_NAME,mergedContext); newContext.put(DUMMY_SAMPLE_NAME,mergedContext);
contexts = newContext; contexts = newContext;
} }
if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) {
// get initial alleles to genotype // starting a new site: clear allele list
perReadAlleleLikelihoodMap.clear(); // clean mapping sample-> per read, per allele likelihoods
}
// get initial alleles to genotype
final List<Allele> allAlleles = new ArrayList<Allele>(); final List<Allele> allAlleles = new ArrayList<Allele>();
if (allAllelesToUse == null || allAllelesToUse.isEmpty()) if (allAllelesToUse == null || allAllelesToUse.isEmpty())
allAlleles.addAll(getInitialAllelesToUse(tracker, ref,contexts,contextType,locParser, allAllelesToUse)); allAlleles.addAll(getInitialAllelesToUse(tracker, ref,contexts,contextType,locParser, allAllelesToUse));
@ -234,9 +229,13 @@ public abstract class GeneralPloidyGenotypeLikelihoodsCalculationModel extends G
continue; continue;
ReadBackedPileup pileup = AlignmentContextUtils.stratify(sample.getValue(), contextType).getBasePileup(); ReadBackedPileup pileup = AlignmentContextUtils.stratify(sample.getValue(), contextType).getBasePileup();
if (!perReadAlleleLikelihoodMap.containsKey(sample.getKey())){
// no likelihoods have been computed for this sample at this site
perReadAlleleLikelihoodMap.put(sample.getKey(), new PerReadAlleleLikelihoodMap());
}
// create the GenotypeLikelihoods object // create the GenotypeLikelihoods object
final GeneralPloidyGenotypeLikelihoods GL = getPoolGenotypeLikelihoodObject(allAlleles, null, UAC.samplePloidy, perLaneErrorModels, useBAQedPileup, ref, UAC.IGNORE_LANE_INFO); final GeneralPloidyGenotypeLikelihoods GL = getPoolGenotypeLikelihoodObject(allAlleles, null, UAC.samplePloidy, perLaneErrorModels, useBAQedPileup, ref, UAC.IGNORE_LANE_INFO, perReadAlleleLikelihoodMap.get(sample.getKey()));
// actually compute likelihoods // actually compute likelihoods
final int nGoodBases = GL.add(pileup, UAC); final int nGoodBases = GL.add(pileup, UAC);
if ( nGoodBases > 0 ) if ( nGoodBases > 0 )
@ -333,7 +332,8 @@ public abstract class GeneralPloidyGenotypeLikelihoodsCalculationModel extends G
final HashMap<String, ErrorModel> perLaneErrorModels, final HashMap<String, ErrorModel> perLaneErrorModels,
final boolean useBQAedPileup, final boolean useBQAedPileup,
final ReferenceContext ref, final ReferenceContext ref,
final boolean ignoreLaneInformation); final boolean ignoreLaneInformation,
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap);
protected abstract List<Allele> getInitialAllelesToUse(final RefMetaDataTracker tracker, protected abstract List<Allele> getInitialAllelesToUse(final RefMetaDataTracker tracker,
final ReferenceContext ref, final ReferenceContext ref,

8
protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GeneralPloidyIndelGenotypeLikelihoods.java
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@ -26,6 +26,7 @@ public class GeneralPloidyIndelGenotypeLikelihoods extends GeneralPloidyGenotype
double[][] readHaplotypeLikelihoods; double[][] readHaplotypeLikelihoods;
final byte refBase; final byte refBase;
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap;
public GeneralPloidyIndelGenotypeLikelihoods(final List<Allele> alleles, public GeneralPloidyIndelGenotypeLikelihoods(final List<Allele> alleles,
final double[] logLikelihoods, final double[] logLikelihoods,
@ -34,7 +35,8 @@ public class GeneralPloidyIndelGenotypeLikelihoods extends GeneralPloidyGenotype
final boolean ignoreLaneInformation, final boolean ignoreLaneInformation,
final PairHMMIndelErrorModel pairModel, final PairHMMIndelErrorModel pairModel,
final LinkedHashMap<Allele, Haplotype> haplotypeMap, final LinkedHashMap<Allele, Haplotype> haplotypeMap,
final ReferenceContext referenceContext) { final ReferenceContext referenceContext,
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap) {
super(alleles, logLikelihoods, ploidy, perLaneErrorModels, ignoreLaneInformation); super(alleles, logLikelihoods, ploidy, perLaneErrorModels, ignoreLaneInformation);
this.pairModel = pairModel; this.pairModel = pairModel;
this.haplotypeMap = haplotypeMap; this.haplotypeMap = haplotypeMap;
@ -42,6 +44,7 @@ public class GeneralPloidyIndelGenotypeLikelihoods extends GeneralPloidyGenotype
this.eventLength = IndelGenotypeLikelihoodsCalculationModel.getEventLength(alleles); this.eventLength = IndelGenotypeLikelihoodsCalculationModel.getEventLength(alleles);
// todo - not needed if indel alleles have base at current position // todo - not needed if indel alleles have base at current position
this.refBase = referenceContext.getBase(); this.refBase = referenceContext.getBase();
this.perReadAlleleLikelihoodMap = perReadAlleleLikelihoodMap;
} }
// ------------------------------------------------------------------------------------- // -------------------------------------------------------------------------------------
@ -142,8 +145,9 @@ public class GeneralPloidyIndelGenotypeLikelihoods extends GeneralPloidyGenotype
List<Integer> numSeenBases = new ArrayList<Integer>(this.alleles.size()); List<Integer> numSeenBases = new ArrayList<Integer>(this.alleles.size());
if (!hasReferenceSampleData) { if (!hasReferenceSampleData) {
final int readCounts[] = new int[pileup.getNumberOfElements()]; final int readCounts[] = new int[pileup.getNumberOfElements()];
readHaplotypeLikelihoods = pairModel.computeGeneralReadHaplotypeLikelihoods(pileup, haplotypeMap, refContext, eventLength, IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(), readCounts); readHaplotypeLikelihoods = pairModel.computeGeneralReadHaplotypeLikelihoods(pileup, haplotypeMap, refContext, eventLength, perReadAlleleLikelihoodMap, readCounts);
n = readHaplotypeLikelihoods.length; n = readHaplotypeLikelihoods.length;
} else { } else {
Allele refAllele = null; Allele refAllele = null;

6
protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GeneralPloidyIndelGenotypeLikelihoodsCalculationModel.java
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@ -73,8 +73,9 @@ public class GeneralPloidyIndelGenotypeLikelihoodsCalculationModel extends Gener
final HashMap<String, ErrorModel> perLaneErrorModels, final HashMap<String, ErrorModel> perLaneErrorModels,
final boolean useBQAedPileup, final boolean useBQAedPileup,
final ReferenceContext ref, final ReferenceContext ref,
final boolean ignoreLaneInformation){ final boolean ignoreLaneInformation,
return new GeneralPloidyIndelGenotypeLikelihoods(alleles, logLikelihoods, ploidy,perLaneErrorModels,ignoreLaneInformation, pairModel, haplotypeMap, ref); final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap){
return new GeneralPloidyIndelGenotypeLikelihoods(alleles, logLikelihoods, ploidy,perLaneErrorModels,ignoreLaneInformation, pairModel, haplotypeMap, ref, perReadAlleleLikelihoodMap);
} }
protected List<Allele> getInitialAllelesToUse(final RefMetaDataTracker tracker, protected List<Allele> getInitialAllelesToUse(final RefMetaDataTracker tracker,
@ -90,7 +91,6 @@ public class GeneralPloidyIndelGenotypeLikelihoodsCalculationModel extends Gener
if (alleles.size() > MAX_NUM_ALLELES_TO_GENOTYPE) if (alleles.size() > MAX_NUM_ALLELES_TO_GENOTYPE)
alleles = alleles.subList(0,MAX_NUM_ALLELES_TO_GENOTYPE); alleles = alleles.subList(0,MAX_NUM_ALLELES_TO_GENOTYPE);
if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) { if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) {
IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap().clear();
haplotypeMap.clear(); haplotypeMap.clear();
} }
IndelGenotypeLikelihoodsCalculationModel.getHaplotypeMapFromAlleles(alleles, ref, ref.getLocus(), haplotypeMap); IndelGenotypeLikelihoodsCalculationModel.getHaplotypeMapFromAlleles(alleles, ref, ref.getLocus(), haplotypeMap);

3
protected/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GeneralPloidySNPGenotypeLikelihoodsCalculationModel.java
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@ -49,7 +49,8 @@ public class GeneralPloidySNPGenotypeLikelihoodsCalculationModel extends General
final HashMap<String, ErrorModel> perLaneErrorModels, final HashMap<String, ErrorModel> perLaneErrorModels,
final boolean useBQAedPileup, final boolean useBQAedPileup,
final ReferenceContext ref, final ReferenceContext ref,
final boolean ignoreLaneInformation) { final boolean ignoreLaneInformation,
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap){
return new GeneralPloidySNPGenotypeLikelihoods(alleles, null, UAC.samplePloidy, perLaneErrorModels, useBQAedPileup, UAC.IGNORE_LANE_INFO); return new GeneralPloidySNPGenotypeLikelihoods(alleles, null, UAC.samplePloidy, perLaneErrorModels, useBQAedPileup, UAC.IGNORE_LANE_INFO);
} }

13
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnEdge.java
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@ -2,6 +2,9 @@ package org.broadinstitute.sting.gatk.walkers.haplotypecaller;
import org.jgrapht.graph.DefaultDirectedGraph; import org.jgrapht.graph.DefaultDirectedGraph;
import java.io.Serializable;
import java.util.Comparator;
/** /**
* Created by IntelliJ IDEA. * Created by IntelliJ IDEA.
* User: ebanks * User: ebanks
@ -9,7 +12,7 @@ import org.jgrapht.graph.DefaultDirectedGraph;
*/ */
// simple edge class for connecting nodes in the graph // simple edge class for connecting nodes in the graph
public class DeBruijnEdge implements Comparable<DeBruijnEdge> { public class DeBruijnEdge {
private int multiplicity; private int multiplicity;
private boolean isRef; private boolean isRef;
@ -53,8 +56,10 @@ public class DeBruijnEdge implements Comparable<DeBruijnEdge> {
return (graph.getEdgeSource(this).equals(graph2.getEdgeSource(edge))) && (graph.getEdgeTarget(this).equals(graph2.getEdgeTarget(edge))); return (graph.getEdgeSource(this).equals(graph2.getEdgeSource(edge))) && (graph.getEdgeTarget(this).equals(graph2.getEdgeTarget(edge)));
} }
@Override public static class EdgeWeightComparator implements Comparator<DeBruijnEdge>, Serializable {
public int compareTo( final DeBruijnEdge that ) { @Override
return this.multiplicity - that.multiplicity; public int compare(final DeBruijnEdge edge1, final DeBruijnEdge edge2) {
return edge1.multiplicity - edge2.multiplicity;
}
} }
} }

4
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/DeBruijnVertex.java
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@ -14,7 +14,7 @@ public class DeBruijnVertex {
public final int kmer; public final int kmer;
public DeBruijnVertex( final byte[] sequence, final int kmer ) { public DeBruijnVertex( final byte[] sequence, final int kmer ) {
this.sequence = sequence; this.sequence = sequence.clone();
this.kmer = kmer; this.kmer = kmer;
} }
@ -37,7 +37,7 @@ public class DeBruijnVertex {
} }
public byte[] getSequence() { public byte[] getSequence() {
return sequence; return sequence.clone();
} }
public byte[] getSuffix() { public byte[] getSuffix() {

88
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngine.java
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@ -42,22 +42,24 @@ import java.util.*;
public class GenotypingEngine { public class GenotypingEngine {
private final boolean DEBUG; private final boolean DEBUG;
private final int MNP_LOOK_AHEAD;
private final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE; private final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE;
private final static List<Allele> noCall = new ArrayList<Allele>(); // used to noCall all genotypes until the exact model is applied private final static List<Allele> noCall = new ArrayList<Allele>(); // used to noCall all genotypes until the exact model is applied
private final static Allele SYMBOLIC_UNASSEMBLED_EVENT_ALLELE = Allele.create("<UNASSEMBLED_EVENT>", false); private final static Allele SYMBOLIC_UNASSEMBLED_EVENT_ALLELE = Allele.create("<UNASSEMBLED_EVENT>", false);
public GenotypingEngine( final boolean DEBUG, final int MNP_LOOK_AHEAD, final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE ) { public GenotypingEngine( final boolean DEBUG, final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE ) {
this.DEBUG = DEBUG; this.DEBUG = DEBUG;
this.MNP_LOOK_AHEAD = MNP_LOOK_AHEAD;
this.OUTPUT_FULL_HAPLOTYPE_SEQUENCE = OUTPUT_FULL_HAPLOTYPE_SEQUENCE; this.OUTPUT_FULL_HAPLOTYPE_SEQUENCE = OUTPUT_FULL_HAPLOTYPE_SEQUENCE;
noCall.add(Allele.NO_CALL); noCall.add(Allele.NO_CALL);
} }
// This function is the streamlined approach, currently not being used // This function is the streamlined approach, currently not being used
@Requires({"refLoc.containsP(activeRegionWindow)", "haplotypes.size() > 0"}) @Requires({"refLoc.containsP(activeRegionWindow)", "haplotypes.size() > 0"})
public List<Pair<VariantContext, HashMap<Allele,ArrayList<Haplotype>>>> assignGenotypeLikelihoodsAndCallHaplotypeEvents( final UnifiedGenotyperEngine UG_engine, final ArrayList<Haplotype> haplotypes, final byte[] ref, final GenomeLoc refLoc, public List<Pair<VariantContext, HashMap<Allele,ArrayList<Haplotype>>>> assignGenotypeLikelihoodsAndCallHaplotypeEvents( final UnifiedGenotyperEngine UG_engine,
final GenomeLoc activeRegionWindow, final GenomeLocParser genomeLocParser ) { final ArrayList<Haplotype> haplotypes,
final byte[] ref,
final GenomeLoc refLoc,
final GenomeLoc activeRegionWindow,
final GenomeLocParser genomeLocParser ) {
// Prepare the list of haplotype indices to genotype // Prepare the list of haplotype indices to genotype
final ArrayList<Allele> allelesToGenotype = new ArrayList<Allele>(); final ArrayList<Allele> allelesToGenotype = new ArrayList<Allele>();
@ -116,7 +118,7 @@ public class GenotypingEngine {
System.out.println( "> Cigar = " + h.getCigar() ); System.out.println( "> Cigar = " + h.getCigar() );
} }
// Walk along the alignment and turn any difference from the reference into an event // Walk along the alignment and turn any difference from the reference into an event
h.setEventMap( generateVCsFromAlignment( h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++, MNP_LOOK_AHEAD ) ); h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++ ) );
startPosKeySet.addAll(h.getEventMap().keySet()); startPosKeySet.addAll(h.getEventMap().keySet());
} }
@ -199,7 +201,7 @@ public class GenotypingEngine {
if( DEBUG ) { System.out.println("=== Best Haplotypes ==="); } if( DEBUG ) { System.out.println("=== Best Haplotypes ==="); }
for( final Haplotype h : haplotypes ) { for( final Haplotype h : haplotypes ) {
// Walk along the alignment and turn any difference from the reference into an event // Walk along the alignment and turn any difference from the reference into an event
h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++, MNP_LOOK_AHEAD ) ); h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++ ) );
if( activeAllelesToGenotype.isEmpty() ) { startPosKeySet.addAll(h.getEventMap().keySet()); } if( activeAllelesToGenotype.isEmpty() ) { startPosKeySet.addAll(h.getEventMap().keySet()); }
if( DEBUG ) { if( DEBUG ) {
System.out.println( h.toString() ); System.out.println( h.toString() );
@ -224,7 +226,6 @@ public class GenotypingEngine {
} }
} }
// Walk along each position in the key set and create each event to be outputted // Walk along each position in the key set and create each event to be outputted
for( final int loc : startPosKeySet ) { for( final int loc : startPosKeySet ) {
if( loc >= activeRegionWindow.getStart() && loc <= activeRegionWindow.getStop() ) { if( loc >= activeRegionWindow.getStart() && loc <= activeRegionWindow.getStop() ) {
@ -518,11 +519,7 @@ public class GenotypingEngine {
return false; return false;
} }
protected static HashMap<Integer,VariantContext> generateVCsFromAlignment( final int alignmentStartHapwrtRef, final Cigar cigar, final byte[] ref, final byte[] alignment, final GenomeLoc refLoc, final String sourceNameToAdd, final int MNP_LOOK_AHEAD ) { protected static HashMap<Integer,VariantContext> generateVCsFromAlignment( final Haplotype haplotype, final int alignmentStartHapwrtRef, final Cigar cigar, final byte[] ref, final byte[] alignment, final GenomeLoc refLoc, final String sourceNameToAdd ) {
return generateVCsFromAlignment(null, alignmentStartHapwrtRef, cigar, ref, alignment, refLoc, sourceNameToAdd, MNP_LOOK_AHEAD); // BUGBUG: needed for compatibility with HaplotypeResolver code
}
protected static HashMap<Integer,VariantContext> generateVCsFromAlignment( final Haplotype haplotype, final int alignmentStartHapwrtRef, final Cigar cigar, final byte[] ref, final byte[] alignment, final GenomeLoc refLoc, final String sourceNameToAdd, final int MNP_LOOK_AHEAD ) {
final HashMap<Integer,VariantContext> vcs = new HashMap<Integer,VariantContext>(); final HashMap<Integer,VariantContext> vcs = new HashMap<Integer,VariantContext>();
int refPos = alignmentStartHapwrtRef; int refPos = alignmentStartHapwrtRef;
@ -533,24 +530,36 @@ public class GenotypingEngine {
final int elementLength = ce.getLength(); final int elementLength = ce.getLength();
switch( ce.getOperator() ) { switch( ce.getOperator() ) {
case I: case I:
{
final ArrayList<Allele> insertionAlleles = new ArrayList<Allele>(); final ArrayList<Allele> insertionAlleles = new ArrayList<Allele>();
final int insertionStart = refLoc.getStart() + refPos - 1; final int insertionStart = refLoc.getStart() + refPos - 1;
insertionAlleles.add( Allele.create(ref[refPos-1], true) ); final byte refByte = ref[refPos-1];
if( haplotype != null && (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1 || haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1) ) { if( BaseUtils.isRegularBase(refByte) ) {
insertionAlleles.add( Allele.create(refByte, true) );
}
if( (haplotype.leftBreakPoint != 0 || haplotype.rightBreakPoint != 0) && (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1 || haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1) ) {
insertionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE ); insertionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE );
} else { } else {
byte[] insertionBases = new byte[]{}; byte[] insertionBases = new byte[]{};
insertionBases = ArrayUtils.add(insertionBases, ref[refPos-1]); // add the padding base insertionBases = ArrayUtils.add(insertionBases, ref[refPos-1]); // add the padding base
insertionBases = ArrayUtils.addAll(insertionBases, Arrays.copyOfRange( alignment, alignmentPos, alignmentPos + elementLength )); insertionBases = ArrayUtils.addAll(insertionBases, Arrays.copyOfRange( alignment, alignmentPos, alignmentPos + elementLength ));
insertionAlleles.add( Allele.create(insertionBases, false) ); if( BaseUtils.isAllRegularBases(insertionBases) ) {
insertionAlleles.add( Allele.create(insertionBases, false) );
}
}
if( insertionAlleles.size() == 2 ) { // found a proper ref and alt allele
vcs.put(insertionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), insertionStart, insertionStart, insertionAlleles).make());
} }
vcs.put(insertionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), insertionStart, insertionStart, insertionAlleles).make());
alignmentPos += elementLength; alignmentPos += elementLength;
break; break;
}
case S: case S:
{
alignmentPos += elementLength; alignmentPos += elementLength;
break; break;
}
case D: case D:
{
final byte[] deletionBases = Arrays.copyOfRange( ref, refPos - 1, refPos + elementLength ); // add padding base final byte[] deletionBases = Arrays.copyOfRange( ref, refPos - 1, refPos + elementLength ); // add padding base
final ArrayList<Allele> deletionAlleles = new ArrayList<Allele>(); final ArrayList<Allele> deletionAlleles = new ArrayList<Allele>();
final int deletionStart = refLoc.getStart() + refPos - 1; final int deletionStart = refLoc.getStart() + refPos - 1;
@ -561,51 +570,36 @@ public class GenotypingEngine {
// deletionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE ); // deletionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE );
// vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart, deletionAlleles).make()); // vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart, deletionAlleles).make());
//} else { //} else {
final byte refByte = ref[refPos-1];
if( BaseUtils.isRegularBase(refByte) && BaseUtils.isAllRegularBases(deletionBases) ) {
deletionAlleles.add( Allele.create(deletionBases, true) ); deletionAlleles.add( Allele.create(deletionBases, true) );
deletionAlleles.add( Allele.create(ref[refPos-1], false) ); deletionAlleles.add( Allele.create(refByte, false) );
vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart + elementLength, deletionAlleles).make()); vcs.put(deletionStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), deletionStart, deletionStart + elementLength, deletionAlleles).make());
}
//} //}
refPos += elementLength; refPos += elementLength;
break; break;
}
case M: case M:
case EQ: case EQ:
case X: case X:
int numSinceMismatch = -1; {
int stopOfMismatch = -1;
int startOfMismatch = -1;
int refPosStartOfMismatch = -1;
for( int iii = 0; iii < elementLength; iii++ ) { for( int iii = 0; iii < elementLength; iii++ ) {
if( ref[refPos] != alignment[alignmentPos] && alignment[alignmentPos] != ((byte) 'N') ) { final byte refByte = ref[refPos];
// SNP or start of possible MNP final byte altByte = alignment[alignmentPos];
if( stopOfMismatch == -1 ) { if( refByte != altByte ) { // SNP!
startOfMismatch = alignmentPos; if( BaseUtils.isRegularBase(refByte) && BaseUtils.isRegularBase(altByte) ) {
stopOfMismatch = alignmentPos; final ArrayList<Allele> snpAlleles = new ArrayList<Allele>();
numSinceMismatch = 0; snpAlleles.add( Allele.create( refByte, true ) );
refPosStartOfMismatch = refPos; snpAlleles.add( Allele.create( altByte, false ) );
} else { vcs.put(refLoc.getStart() + refPos, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), refLoc.getStart() + refPos, refLoc.getStart() + refPos, snpAlleles).make());
stopOfMismatch = alignmentPos;
} }
} }
if( stopOfMismatch != -1) {
numSinceMismatch++;
}
if( numSinceMismatch > MNP_LOOK_AHEAD || (iii == elementLength - 1 && stopOfMismatch != -1) ) {
final byte[] refBases = Arrays.copyOfRange( ref, refPosStartOfMismatch, refPosStartOfMismatch + (stopOfMismatch - startOfMismatch) + 1 );
final byte[] mismatchBases = Arrays.copyOfRange( alignment, startOfMismatch, stopOfMismatch + 1 );
final ArrayList<Allele> snpAlleles = new ArrayList<Allele>();
snpAlleles.add( Allele.create( refBases, true ) );
snpAlleles.add( Allele.create( mismatchBases, false ) );
final int snpStart = refLoc.getStart() + refPosStartOfMismatch;
vcs.put(snpStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), snpStart, snpStart + (stopOfMismatch - startOfMismatch), snpAlleles).make());
numSinceMismatch = -1;
stopOfMismatch = -1;
startOfMismatch = -1;
refPosStartOfMismatch = -1;
}
refPos++; refPos++;
alignmentPos++; alignmentPos++;
} }
break; break;
}
case N: case N:
case H: case H:
case P: case P:

97
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCaller.java
View File

@ -27,6 +27,8 @@ package org.broadinstitute.sting.gatk.walkers.haplotypecaller;
import com.google.java.contract.Ensures; import com.google.java.contract.Ensures;
import net.sf.picard.reference.IndexedFastaSequenceFile; import net.sf.picard.reference.IndexedFastaSequenceFile;
import org.broadinstitute.sting.gatk.arguments.StandardCallerArgumentCollection;
import org.broadinstitute.sting.gatk.walkers.genotyper.*;
import org.broadinstitute.sting.utils.activeregion.ActivityProfileResult; import org.broadinstitute.sting.utils.activeregion.ActivityProfileResult;
import org.broadinstitute.sting.utils.help.DocumentedGATKFeature; import org.broadinstitute.sting.utils.help.DocumentedGATKFeature;
import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.commandline.*;
@ -44,10 +46,6 @@ import org.broadinstitute.sting.gatk.walkers.PartitionBy;
import org.broadinstitute.sting.gatk.walkers.PartitionType; import org.broadinstitute.sting.gatk.walkers.PartitionType;
import org.broadinstitute.sting.gatk.walkers.annotator.VariantAnnotatorEngine; import org.broadinstitute.sting.gatk.walkers.annotator.VariantAnnotatorEngine;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.genotyper.GenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedArgumentCollection;
import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine;
import org.broadinstitute.sting.gatk.walkers.genotyper.VariantCallContext;
import org.broadinstitute.sting.utils.*; import org.broadinstitute.sting.utils.*;
import org.broadinstitute.sting.utils.clipping.ReadClipper; import org.broadinstitute.sting.utils.clipping.ReadClipper;
import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.codecs.vcf.*;
@ -121,10 +119,6 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
@Argument(fullName="keepRG", shortName="keepRG", doc="Only use read from this read group when making calls (but use all reads to build the assembly)", required = false) @Argument(fullName="keepRG", shortName="keepRG", doc="Only use read from this read group when making calls (but use all reads to build the assembly)", required = false)
protected String keepRG = null; protected String keepRG = null;
@Hidden
@Argument(fullName="mnpLookAhead", shortName="mnpLookAhead", doc = "The number of bases to combine together to form MNPs out of nearby consecutive SNPs on the same haplotype", required = false)
protected int MNP_LOOK_AHEAD = 0;
@Argument(fullName="minPruning", shortName="minPruning", doc = "The minimum allowed pruning factor in assembly graph. Paths with <= X supporting kmers are pruned from the graph", required = false) @Argument(fullName="minPruning", shortName="minPruning", doc = "The minimum allowed pruning factor in assembly graph. Paths with <= X supporting kmers are pruned from the graph", required = false)
protected int MIN_PRUNE_FACTOR = 1; protected int MIN_PRUNE_FACTOR = 1;
@ -137,7 +131,7 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
protected boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE = false; protected boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE = false;
@Advanced @Advanced
@Argument(fullName="gcpHMM", shortName="gcpHMM", doc="Gap continuation penalty for use in the Pair HMM", required = false) @Argument(fullName="gcpHMM", shortName="gcpHMM", doc="Flat gap continuation penalty for use in the Pair HMM", required = false)
protected int gcpHMM = 10; protected int gcpHMM = 10;
@Argument(fullName="downsampleRegion", shortName="dr", doc="coverage, per-sample, to downsample each active region to", required = false) @Argument(fullName="downsampleRegion", shortName="dr", doc="coverage, per-sample, to downsample each active region to", required = false)
@ -180,7 +174,7 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
* so annotations will be excluded even if they are explicitly included with the other options. * so annotations will be excluded even if they are explicitly included with the other options.
*/ */
@Argument(fullName="excludeAnnotation", shortName="XA", doc="One or more specific annotations to exclude", required=false) @Argument(fullName="excludeAnnotation", shortName="XA", doc="One or more specific annotations to exclude", required=false)
protected List<String> annotationsToExclude = new ArrayList<String>(Arrays.asList(new String[]{"HaplotypeScore", "MappingQualityZero", "SpanningDeletions", "TandemRepeatAnnotator"})); protected List<String> annotationsToExclude = new ArrayList<String>(Arrays.asList(new String[]{"SpanningDeletions", "TandemRepeatAnnotator"}));
/** /**
* Which groups of annotations to add to the output VCF file. See the VariantAnnotator -list argument to view available groups. * Which groups of annotations to add to the output VCF file. See the VariantAnnotator -list argument to view available groups.
@ -189,23 +183,23 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
protected String[] annotationClassesToUse = { "Standard" }; protected String[] annotationClassesToUse = { "Standard" };
@ArgumentCollection @ArgumentCollection
private UnifiedArgumentCollection UAC = new UnifiedArgumentCollection(); private StandardCallerArgumentCollection SCAC = new StandardCallerArgumentCollection();
// the calculation arguments
private UnifiedGenotyperEngine UG_engine = null;
private UnifiedGenotyperEngine UG_engine_simple_genotyper = null;
@Argument(fullName="debug", shortName="debug", doc="If specified, print out very verbose debug information about each triggering active region", required = false) @Argument(fullName="debug", shortName="debug", doc="If specified, print out very verbose debug information about each triggering active region", required = false)
protected boolean DEBUG; protected boolean DEBUG;
// the UG engines
private UnifiedGenotyperEngine UG_engine = null;
private UnifiedGenotyperEngine UG_engine_simple_genotyper = null;
// the assembly engine // the assembly engine
LocalAssemblyEngine assemblyEngine = null; private LocalAssemblyEngine assemblyEngine = null;
// the likelihoods engine // the likelihoods engine
LikelihoodCalculationEngine likelihoodCalculationEngine = null; private LikelihoodCalculationEngine likelihoodCalculationEngine = null;
// the genotyping engine // the genotyping engine
GenotypingEngine genotypingEngine = null; private GenotypingEngine genotypingEngine = null;
// the annotation engine // the annotation engine
private VariantAnnotatorEngine annotationEngine; private VariantAnnotatorEngine annotationEngine;
@ -240,7 +234,7 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
Set<String> samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader()); Set<String> samples = SampleUtils.getSAMFileSamples(getToolkit().getSAMFileHeader());
samplesList.addAll( samples ); samplesList.addAll( samples );
// initialize the UnifiedGenotyper Engine which is used to call into the exact model // initialize the UnifiedGenotyper Engine which is used to call into the exact model
UAC.GLmodel = GenotypeLikelihoodsCalculationModel.Model.SNP; // the GLmodel isn't used by the HaplotypeCaller but it is dangerous to let the user change this argument final UnifiedArgumentCollection UAC = new UnifiedArgumentCollection( SCAC ); // this adapter is used so that the full set of unused UG arguments aren't exposed to the HC user
UG_engine = new UnifiedGenotyperEngine(getToolkit(), UAC.clone(), logger, null, null, samples, VariantContextUtils.DEFAULT_PLOIDY); UG_engine = new UnifiedGenotyperEngine(getToolkit(), UAC.clone(), logger, null, null, samples, VariantContextUtils.DEFAULT_PLOIDY);
UAC.OutputMode = UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_VARIANTS_ONLY; // low values used for isActive determination only, default/user-specified values used for actual calling UAC.OutputMode = UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_VARIANTS_ONLY; // low values used for isActive determination only, default/user-specified values used for actual calling
UAC.GenotypingMode = GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.DISCOVERY; // low values used for isActive determination only, default/user-specified values used for actual calling UAC.GenotypingMode = GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.DISCOVERY; // low values used for isActive determination only, default/user-specified values used for actual calling
@ -291,7 +285,7 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
assemblyEngine = new SimpleDeBruijnAssembler( DEBUG, graphWriter ); assemblyEngine = new SimpleDeBruijnAssembler( DEBUG, graphWriter );
likelihoodCalculationEngine = new LikelihoodCalculationEngine( (byte)gcpHMM, DEBUG, false ); likelihoodCalculationEngine = new LikelihoodCalculationEngine( (byte)gcpHMM, DEBUG, false );
genotypingEngine = new GenotypingEngine( DEBUG, MNP_LOOK_AHEAD, OUTPUT_FULL_HAPLOTYPE_SEQUENCE ); genotypingEngine = new GenotypingEngine( DEBUG, OUTPUT_FULL_HAPLOTYPE_SEQUENCE );
} }
//--------------------------------------------------------------------------------------------------------------- //---------------------------------------------------------------------------------------------------------------
@ -413,45 +407,48 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
for( final Pair<VariantContext, HashMap<Allele, ArrayList<Haplotype>>> callResult : for( final Pair<VariantContext, HashMap<Allele, ArrayList<Haplotype>>> callResult :
( GENOTYPE_FULL_ACTIVE_REGION && UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ( GENOTYPE_FULL_ACTIVE_REGION && UG_engine.getUAC().GenotypingMode != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES
? genotypingEngine.assignGenotypeLikelihoodsAndCallHaplotypeEvents( UG_engine, bestHaplotypes, fullReferenceWithPadding, getPaddedLoc(activeRegion), activeRegion.getLocation(), getToolkit().getGenomeLocParser() ) ? genotypingEngine.assignGenotypeLikelihoodsAndCallHaplotypeEvents( UG_engine, bestHaplotypes, fullReferenceWithPadding, getPaddedLoc(activeRegion), activeRegion.getExtendedLoc(), getToolkit().getGenomeLocParser() )
: genotypingEngine.assignGenotypeLikelihoodsAndCallIndependentEvents( UG_engine, bestHaplotypes, fullReferenceWithPadding, getPaddedLoc(activeRegion), activeRegion.getLocation(), getToolkit().getGenomeLocParser(), activeAllelesToGenotype ) ) ) { : genotypingEngine.assignGenotypeLikelihoodsAndCallIndependentEvents( UG_engine, bestHaplotypes, fullReferenceWithPadding, getPaddedLoc(activeRegion), activeRegion.getLocation(), getToolkit().getGenomeLocParser(), activeAllelesToGenotype ) ) ) {
if( DEBUG ) { System.out.println(callResult.getFirst().toStringWithoutGenotypes()); } if( DEBUG ) { System.out.println(callResult.getFirst().toStringWithoutGenotypes()); }
final Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedReadMap = LikelihoodCalculationEngine.partitionReadsBasedOnLikelihoods( getToolkit().getGenomeLocParser(), perSampleReadList, perSampleFilteredReadList, callResult ); final Map<String, PerReadAlleleLikelihoodMap> stratifiedReadMap = LikelihoodCalculationEngine.partitionReadsBasedOnLikelihoods( getToolkit().getGenomeLocParser(), perSampleReadList, perSampleFilteredReadList, callResult );
final VariantContext annotatedCall = annotationEngine.annotateContext(stratifiedReadMap, callResult.getFirst()); final VariantContext annotatedCall = annotationEngine.annotateContext(stratifiedReadMap, callResult.getFirst());
// add some custom annotations to the calls
final Map<String, Object> myAttributes = new LinkedHashMap<String, Object>(annotatedCall.getAttributes()); final Map<String, Object> myAttributes = new LinkedHashMap<String, Object>(annotatedCall.getAttributes());
// Calculate the number of variants on the haplotype
int maxNumVar = 0; if( !GENOTYPE_FULL_ACTIVE_REGION ) {
for( final Allele allele : callResult.getFirst().getAlleles() ) { // add some custom annotations to the calls
if( !allele.isReference() ) {
for( final Haplotype haplotype : callResult.getSecond().get(allele) ) { // Calculate the number of variants on the haplotype
final int numVar = haplotype.getEventMap().size(); int maxNumVar = 0;
if( numVar > maxNumVar ) { maxNumVar = numVar; } for( final Allele allele : callResult.getFirst().getAlleles() ) {
if( !allele.isReference() ) {
for( final Haplotype haplotype : callResult.getSecond().get(allele) ) {
final int numVar = haplotype.getEventMap().size();
if( numVar > maxNumVar ) { maxNumVar = numVar; }
}
} }
} }
} // Calculate the event length
// Calculate the event length int maxLength = 0;
int maxLength = 0; for ( final Allele a : annotatedCall.getAlternateAlleles() ) {
for ( final Allele a : annotatedCall.getAlternateAlleles() ) { final int length = a.length() - annotatedCall.getReference().length();
final int length = a.length() - annotatedCall.getReference().length(); if( Math.abs(length) > Math.abs(maxLength) ) { maxLength = length; }
if( Math.abs(length) > Math.abs(maxLength) ) { maxLength = length; } }
}
myAttributes.put("NVH", maxNumVar); myAttributes.put("NVH", maxNumVar);
myAttributes.put("NumHapEval", bestHaplotypes.size()); myAttributes.put("NumHapEval", bestHaplotypes.size());
myAttributes.put("NumHapAssembly", haplotypes.size()); myAttributes.put("NumHapAssembly", haplotypes.size());
myAttributes.put("ActiveRegionSize", activeRegion.getLocation().size()); myAttributes.put("ActiveRegionSize", activeRegion.getLocation().size());
myAttributes.put("EVENTLENGTH", maxLength); myAttributes.put("EVENTLENGTH", maxLength);
myAttributes.put("TYPE", (annotatedCall.isSNP() || annotatedCall.isMNP() ? "SNP" : "INDEL") ); myAttributes.put("TYPE", (annotatedCall.isSNP() || annotatedCall.isMNP() ? "SNP" : "INDEL") );
myAttributes.put("extType", annotatedCall.getType().toString() ); myAttributes.put("extType", annotatedCall.getType().toString() );
//if( likelihoodCalculationEngine.haplotypeScore != null ) { //if( likelihoodCalculationEngine.haplotypeScore != null ) {
// myAttributes.put("HaplotypeScore", String.format("%.4f", likelihoodCalculationEngine.haplotypeScore)); // myAttributes.put("HaplotypeScore", String.format("%.4f", likelihoodCalculationEngine.haplotypeScore));
//} //}
if( annotatedCall.hasAttribute("QD") ) { if( annotatedCall.hasAttribute("QD") ) {
myAttributes.put("QDE", String.format("%.2f", Double.parseDouble((String)annotatedCall.getAttribute("QD")) / ((double)maxNumVar)) ); myAttributes.put("QDE", String.format("%.2f", Double.parseDouble((String)annotatedCall.getAttribute("QD")) / ((double)maxNumVar)) );
}
} }
vcfWriter.add( new VariantContextBuilder(annotatedCall).attributes(myAttributes).make() ); vcfWriter.add( new VariantContextBuilder(annotatedCall).attributes(myAttributes).make() );

5
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeResolver.java
View File

@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.Reference;
import org.broadinstitute.sting.gatk.walkers.RodWalker; import org.broadinstitute.sting.gatk.walkers.RodWalker;
import org.broadinstitute.sting.gatk.walkers.Window; import org.broadinstitute.sting.gatk.walkers.Window;
import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLoc;
import org.broadinstitute.sting.utils.Haplotype;
import org.broadinstitute.sting.utils.SWPairwiseAlignment; import org.broadinstitute.sting.utils.SWPairwiseAlignment;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine;
@ -337,8 +338,8 @@ public class HaplotypeResolver extends RodWalker<Integer, Integer> {
} }
// order results by start position // order results by start position
final TreeMap<Integer, VariantContext> source1Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(0, swConsensus1.getCigar(), refContext.getBases(), source1Haplotype, refContext.getWindow(), source1, 0)); final TreeMap<Integer, VariantContext> source1Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(new Haplotype(source1Haplotype), 0, swConsensus1.getCigar(), refContext.getBases(), source1Haplotype, refContext.getWindow(), source1));
final TreeMap<Integer, VariantContext> source2Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(0, swConsensus2.getCigar(), refContext.getBases(), source2Haplotype, refContext.getWindow(), source2, 0)); final TreeMap<Integer, VariantContext> source2Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(new Haplotype(source2Haplotype), 0, swConsensus2.getCigar(), refContext.getBases(), source2Haplotype, refContext.getWindow(), source2));
if ( source1Map.size() == 0 || source2Map.size() == 0 ) { if ( source1Map.size() == 0 || source2Map.size() == 0 ) {
// TODO -- handle errors appropriately // TODO -- handle errors appropriately
logger.debug("No source alleles; aborting at " + refContext.getLocus()); logger.debug("No source alleles; aborting at " + refContext.getLocus());

9
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/KBestPaths.java
View File

@ -4,6 +4,7 @@ import org.apache.commons.lang.ArrayUtils;
import org.broadinstitute.sting.utils.exceptions.ReviewedStingException; import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
import org.jgrapht.graph.DefaultDirectedGraph; import org.jgrapht.graph.DefaultDirectedGraph;
import java.io.Serializable;
import java.util.*; import java.util.*;
/** /**
@ -76,13 +77,15 @@ public class KBestPaths {
} }
} }
protected static class PathComparatorTotalScore implements Comparator<Path> { protected static class PathComparatorTotalScore implements Comparator<Path>, Serializable {
@Override
public int compare(final Path path1, final Path path2) { public int compare(final Path path1, final Path path2) {
return path1.totalScore - path2.totalScore; return path1.totalScore - path2.totalScore;
} }
} }
//protected static class PathComparatorLowestEdge implements Comparator<Path> { //protected static class PathComparatorLowestEdge implements Comparator<Path>, Serializable {
// @Override
// public int compare(final Path path1, final Path path2) { // public int compare(final Path path1, final Path path2) {
// return path2.lowestEdge - path1.lowestEdge; // return path2.lowestEdge - path1.lowestEdge;
// } // }
@ -124,7 +127,7 @@ public class KBestPaths {
// recursively run DFS // recursively run DFS
final ArrayList<DeBruijnEdge> edgeArrayList = new ArrayList<DeBruijnEdge>(); final ArrayList<DeBruijnEdge> edgeArrayList = new ArrayList<DeBruijnEdge>();
edgeArrayList.addAll(graph.outgoingEdgesOf(path.lastVertex)); edgeArrayList.addAll(graph.outgoingEdgesOf(path.lastVertex));
Collections.sort(edgeArrayList); Collections.sort(edgeArrayList, new DeBruijnEdge.EdgeWeightComparator());
Collections.reverse(edgeArrayList); Collections.reverse(edgeArrayList);
for ( final DeBruijnEdge edge : edgeArrayList ) { for ( final DeBruijnEdge edge : edgeArrayList ) {
// make sure the edge is not already in the path // make sure the edge is not already in the path

52
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/LikelihoodCalculationEngine.java
View File

@ -27,6 +27,7 @@ package org.broadinstitute.sting.gatk.walkers.haplotypecaller;
import com.google.java.contract.Ensures; import com.google.java.contract.Ensures;
import com.google.java.contract.Requires; import com.google.java.contract.Requires;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.*; import org.broadinstitute.sting.utils.*;
import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.collections.Pair;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
@ -77,10 +78,10 @@ public class LikelihoodCalculationEngine {
PairHMM.initializeArrays(matchMetricArray, XMetricArray, YMetricArray, X_METRIC_LENGTH); PairHMM.initializeArrays(matchMetricArray, XMetricArray, YMetricArray, X_METRIC_LENGTH);
// for each sample's reads // for each sample's reads
for( final String sample : perSampleReadList.keySet() ) { for( final Map.Entry<String, ArrayList<GATKSAMRecord>> sampleEntry : perSampleReadList.entrySet() ) {
//if( DEBUG ) { System.out.println("Evaluating sample " + sample + " with " + perSampleReadList.get( sample ).size() + " passing reads"); } //if( DEBUG ) { System.out.println("Evaluating sample " + sample + " with " + perSampleReadList.get( sample ).size() + " passing reads"); }
// evaluate the likelihood of the reads given those haplotypes // evaluate the likelihood of the reads given those haplotypes
computeReadLikelihoods( haplotypes, perSampleReadList.get(sample), sample, matchMetricArray, XMetricArray, YMetricArray ); computeReadLikelihoods( haplotypes, sampleEntry.getValue(), sampleEntry.getKey(), matchMetricArray, XMetricArray, YMetricArray );
} }
} }
@ -179,7 +180,6 @@ public class LikelihoodCalculationEngine {
final double[] readLikelihoods_jjj = jjj_mapped.getReadLikelihoods(sample); final double[] readLikelihoods_jjj = jjj_mapped.getReadLikelihoods(sample);
for( int kkk = 0; kkk < readLikelihoods_iii.length; kkk++ ) { for( int kkk = 0; kkk < readLikelihoods_iii.length; kkk++ ) {
// Compute log10(10^x1/2 + 10^x2/2) = log10(10^x1+10^x2)-log10(2) // Compute log10(10^x1/2 + 10^x2/2) = log10(10^x1+10^x2)-log10(2)
// log10(10^(a*x1) + 10^(b*x2)) ???
// First term is approximated by Jacobian log with table lookup. // First term is approximated by Jacobian log with table lookup.
haplotypeLikelihood += readCounts_iii[kkk] * ( MathUtils.approximateLog10SumLog10(readLikelihoods_iii[kkk], readLikelihoods_jjj[kkk]) + LOG_ONE_HALF ); haplotypeLikelihood += readCounts_iii[kkk] * ( MathUtils.approximateLog10SumLog10(readLikelihoods_iii[kkk], readLikelihoods_jjj[kkk]) + LOG_ONE_HALF );
} }
@ -323,11 +323,13 @@ public class LikelihoodCalculationEngine {
return bestHaplotypes; return bestHaplotypes;
} }
public static Map<String, Map<Allele, List<GATKSAMRecord>>> partitionReadsBasedOnLikelihoods( final GenomeLocParser parser, final HashMap<String, ArrayList<GATKSAMRecord>> perSampleReadList, final HashMap<String, ArrayList<GATKSAMRecord>> perSampleFilteredReadList, final Pair<VariantContext, HashMap<Allele,ArrayList<Haplotype>>> call) { public static Map<String, PerReadAlleleLikelihoodMap> partitionReadsBasedOnLikelihoods( final GenomeLocParser parser, final HashMap<String, ArrayList<GATKSAMRecord>> perSampleReadList, final HashMap<String, ArrayList<GATKSAMRecord>> perSampleFilteredReadList, final Pair<VariantContext, HashMap<Allele,ArrayList<Haplotype>>> call) {
final Map<String, Map<Allele, List<GATKSAMRecord>>> returnMap = new HashMap<String, Map<Allele, List<GATKSAMRecord>>>(); final Map<String, PerReadAlleleLikelihoodMap> returnMap = new HashMap<String, PerReadAlleleLikelihoodMap>();
final GenomeLoc callLoc = parser.createGenomeLoc(call.getFirst()); final GenomeLoc callLoc = parser.createGenomeLoc(call.getFirst());
for( final Map.Entry<String, ArrayList<GATKSAMRecord>> sample : perSampleReadList.entrySet() ) { for( final Map.Entry<String, ArrayList<GATKSAMRecord>> sample : perSampleReadList.entrySet() ) {
final Map<Allele, List<GATKSAMRecord>> alleleReadMap = new HashMap<Allele, List<GATKSAMRecord>>(); //final Map<Allele, List<GATKSAMRecord>> alleleReadMap = new HashMap<Allele, List<GATKSAMRecord>>();
final PerReadAlleleLikelihoodMap likelihoodMap = new PerReadAlleleLikelihoodMap();
final ArrayList<GATKSAMRecord> readsForThisSample = sample.getValue(); final ArrayList<GATKSAMRecord> readsForThisSample = sample.getValue();
for( int iii = 0; iii < readsForThisSample.size(); iii++ ) { for( int iii = 0; iii < readsForThisSample.size(); iii++ ) {
final GATKSAMRecord read = readsForThisSample.get(iii); // BUGBUG: assumes read order in this list and haplotype likelihood list are the same! final GATKSAMRecord read = readsForThisSample.get(iii); // BUGBUG: assumes read order in this list and haplotype likelihood list are the same!
@ -335,51 +337,31 @@ public class LikelihoodCalculationEngine {
if( callLoc.overlapsP(parser.createGenomeLoc(read)) ) { if( callLoc.overlapsP(parser.createGenomeLoc(read)) ) {
final double likelihoods[] = new double[call.getFirst().getAlleles().size()]; final double likelihoods[] = new double[call.getFirst().getAlleles().size()];
int count = 0; int count = 0;
for( final Allele a : call.getFirst().getAlleles() ) { // find the allele with the highest haplotype likelihood
double maxLikelihood = Double.NEGATIVE_INFINITY; for( final Allele a : call.getFirst().getAlleles() ) {
for( final Haplotype h : call.getSecond().get(a) ) { // use the max likelihood from all the haplotypes which mapped to this allele (achieved via the haplotype mapper object) for( final Haplotype h : call.getSecond().get(a) ) { // use the max likelihood from all the haplotypes which mapped to this allele (achieved via the haplotype mapper object)
final double likelihood = h.getReadLikelihoods(sample.getKey())[iii]; final double likelihood = h.getReadLikelihoods(sample.getKey())[iii];
if( likelihood > maxLikelihood ) { likelihoodMap.add(read, a, likelihood);
maxLikelihood = likelihood;
}
}
likelihoods[count++] = maxLikelihood;
}
final int bestAllele = MathUtils.maxElementIndex(likelihoods);
final double bestLikelihood = likelihoods[bestAllele];
Allele allele = Allele.NO_CALL;
boolean isInformativeRead = false;
for( final double likelihood : likelihoods ) {
if( bestLikelihood - likelihood > BEST_LIKELIHOOD_THRESHOLD ) {
isInformativeRead = true;
break;
} }
} }
// uninformative reads get the no call Allele
if( isInformativeRead ) {
allele = call.getFirst().getAlleles().get(bestAllele);
}
List<GATKSAMRecord> readList = alleleReadMap.get(allele);
if( readList == null ) {
readList = new ArrayList<GATKSAMRecord>();
alleleReadMap.put(allele, readList);
}
readList.add(read);
} }
} }
// add all filtered reads to the NO_CALL list because they weren't given any likelihoods /* // add all filtered reads to the NO_CALL list because they weren't given any likelihoods
List<GATKSAMRecord> readList = alleleReadMap.get(Allele.NO_CALL); List<GATKSAMRecord> readList = alleleReadMap.get(Allele.NO_CALL);
if( readList == null ) { if( readList == null ) {
readList = new ArrayList<GATKSAMRecord>(); readList = new ArrayList<GATKSAMRecord>();
alleleReadMap.put(Allele.NO_CALL, readList); alleleReadMap.put(Allele.NO_CALL, readList);
} }
for( final GATKSAMRecord read : perSampleFilteredReadList.get(sample.getKey()) ) { */
/* for( final GATKSAMRecord read : perSampleFilteredReadList.get(sample.getKey()) ) {
// only count the read if it overlaps the event, otherwise it is not added to the output read list at all // only count the read if it overlaps the event, otherwise it is not added to the output read list at all
if( callLoc.overlapsP(parser.createGenomeLoc(read)) ) { if( callLoc.overlapsP(parser.createGenomeLoc(read)) ) {
readList.add(read); readList.add(read);
} }
} }
returnMap.put(sample.getKey(), alleleReadMap); */
returnMap.put(sample.getKey(), likelihoodMap);
} }
return returnMap; return returnMap;
} }

5
protected/java/src/org/broadinstitute/sting/gatk/walkers/haplotypecaller/SimpleDeBruijnAssembler.java
View File

@ -201,7 +201,8 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine {
// compute mean number of reduced read counts in current kmer span // compute mean number of reduced read counts in current kmer span
final byte[] counts = Arrays.copyOfRange(reducedReadCounts,iii,iii+KMER_LENGTH+1); final byte[] counts = Arrays.copyOfRange(reducedReadCounts,iii,iii+KMER_LENGTH+1);
// precise rounding can make a difference with low consensus counts // precise rounding can make a difference with low consensus counts
countNumber = (int)Math.round((double)MathUtils.sum(counts)/counts.length); countNumber = MathUtils.arrayMax(counts);
// countNumber = (int)Math.round((double)MathUtils.sum(counts)/counts.length);
} }
if( !badKmer ) { if( !badKmer ) {
@ -292,7 +293,7 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine {
final Haplotype h = new Haplotype( path.getBases( graph ), path.getScore() ); final Haplotype h = new Haplotype( path.getBases( graph ), path.getScore() );
if( addHaplotype( h, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop ) ) { if( addHaplotype( h, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop ) ) {
if( !activeAllelesToGenotype.isEmpty() ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present if( !activeAllelesToGenotype.isEmpty() ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present
final HashMap<Integer,VariantContext> eventMap = GenotypingEngine.generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), fullReferenceWithPadding, h.getBases(), refLoc, "HCassembly", 0 ); // BUGBUG: need to put this function in a shared place final HashMap<Integer,VariantContext> eventMap = GenotypingEngine.generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), fullReferenceWithPadding, h.getBases(), refLoc, "HCassembly" ); // BUGBUG: need to put this function in a shared place
for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present
final VariantContext vcOnHaplotype = eventMap.get(compVC.getStart()); final VariantContext vcOnHaplotype = eventMap.get(compVC.getStart());
if( vcOnHaplotype == null || !vcOnHaplotype.hasSameAllelesAs(compVC) ) { if( vcOnHaplotype == null || !vcOnHaplotype.hasSameAllelesAs(compVC) ) {

16
protected/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperGeneralPloidyIntegrationTest.java
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@ -18,8 +18,8 @@ public class UnifiedGenotyperGeneralPloidyIntegrationTest extends WalkerTest {
final String LSV_BAM = validationDataLocation +"93pools_NA12878_ref_chr20_40m_41m.bam"; final String LSV_BAM = validationDataLocation +"93pools_NA12878_ref_chr20_40m_41m.bam";
final String REFSAMPLE_MT_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12878.snp.vcf"; final String REFSAMPLE_MT_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12878.snp.vcf";
final String REFSAMPLE_NAME = "NA12878"; final String REFSAMPLE_NAME = "NA12878";
final String MTINTERVALS = "MT:1-3000"; final String MTINTERVALS = "MT:1-1000";
final String LSVINTERVALS = "20:40,000,000-41,000,000"; final String LSVINTERVALS = "20:40,500,000-41,000,000";
final String NA12891_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12891.snp.vcf"; final String NA12891_CALLS = comparisonDataLocation + "Unvalidated/mtDNA/NA12891.snp.vcf";
final String NA12878_WG_CALLS = comparisonDataLocation + "Unvalidated/NA12878/CEUTrio.HiSeq.WGS.b37_decoy.recal.ts_95.snp_indel_combined.vcf"; final String NA12878_WG_CALLS = comparisonDataLocation + "Unvalidated/NA12878/CEUTrio.HiSeq.WGS.b37_decoy.recal.ts_95.snp_indel_combined.vcf";
final String LSV_ALLELES = validationDataLocation + "ALL.chr20_40m_41m.largeScaleValidationSites.vcf"; final String LSV_ALLELES = validationDataLocation + "ALL.chr20_40m_41m.largeScaleValidationSites.vcf";
@ -47,31 +47,31 @@ public class UnifiedGenotyperGeneralPloidyIntegrationTest extends WalkerTest {
@Test(enabled = true) @Test(enabled = true)
public void testBOTH_GGA_Pools() { public void testBOTH_GGA_Pools() {
PC_LSV_Test(String.format(" -maxAltAlleles 2 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",LSV_ALLELES),"LSV_BOTH_GGA","BOTH","0934f72865388999efec64bd9d4a9b93"); PC_LSV_Test(String.format(" -maxAltAlleles 2 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",LSV_ALLELES),"LSV_BOTH_GGA","BOTH","077db83cf7dc5490f670c85856b408b2");
} }
@Test(enabled = true) @Test(enabled = true)
public void testINDEL_GGA_Pools() { public void testINDEL_GGA_Pools() {
PC_LSV_Test(String.format(" -maxAltAlleles 1 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",LSV_ALLELES),"LSV_INDEL_GGA","INDEL","126581c72d287722437274d41b6fed7b"); PC_LSV_Test(String.format(" -maxAltAlleles 1 -ploidy 24 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",LSV_ALLELES),"LSV_INDEL_GGA","INDEL","e460a17377b731ff4eab36fb56042ecd");
} }
@Test(enabled = true) @Test(enabled = true)
public void testINDEL_maxAltAlleles2_ploidy3_Pools_noRef() { public void testINDEL_maxAltAlleles2_ploidy3_Pools_noRef() {
PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 3","LSV_INDEL_DISC_NOREF_p3","INDEL","b543aa1c3efedb301e525c1d6c50ed8d"); PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 3","LSV_INDEL_DISC_NOREF_p3","INDEL","9514ed15c7030b6d47e04e6a3a2b0a3e");
} }
@Test(enabled = true) @Test(enabled = true)
public void testINDEL_maxAltAlleles2_ploidy1_Pools_noRef() { public void testINDEL_maxAltAlleles2_ploidy1_Pools_noRef() {
PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 1","LSV_INDEL_DISC_NOREF_p1","INDEL","55b20557a836bb92688e68f12d7f5dc4"); PC_LSV_Test_NoRef(" -maxAltAlleles 2 -ploidy 1","LSV_INDEL_DISC_NOREF_p1","INDEL","26598044436c8044f22ffa767b06a0f0");
} }
@Test(enabled = true) @Test(enabled = true)
public void testMT_SNP_DISCOVERY_sp4() { public void testMT_SNP_DISCOVERY_sp4() {
PC_MT_Test(CEUTRIO_BAM, " -maxAltAlleles 1 -ploidy 8", "MT_SNP_DISCOVERY_sp4","7eb889e8e07182f4c3d64609591f9459"); PC_MT_Test(CEUTRIO_BAM, " -maxAltAlleles 1 -ploidy 8", "MT_SNP_DISCOVERY_sp4","da359fe7dd6dce045193198c264301ee");
} }
@Test(enabled = true) @Test(enabled = true)
public void testMT_SNP_GGA_sp10() { public void testMT_SNP_GGA_sp10() {
PC_MT_Test(CEUTRIO_BAM, String.format(" -maxAltAlleles 1 -ploidy 20 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",NA12891_CALLS), "MT_SNP_GGA_sp10", "db8114877b99b14f7180fdcd24b040a7"); PC_MT_Test(CEUTRIO_BAM, String.format(" -maxAltAlleles 1 -ploidy 20 -gt_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles %s",NA12891_CALLS), "MT_SNP_GGA_sp10", "ad0eef3a9deaa098d79df62af7e5448a");
} }
} }

3
protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/GenotypingEngineUnitTest.java
View File

@ -142,7 +142,6 @@ public class GenotypingEngineUnitTest extends BaseTest {
byte[] ref; byte[] ref;
byte[] hap; byte[] hap;
HashMap<Integer,Byte> expected; HashMap<Integer,Byte> expected;
GenotypingEngine ge = new GenotypingEngine(false, 0, false);
public BasicGenotypingTestProvider(String refString, String hapString, HashMap<Integer, Byte> expected) { public BasicGenotypingTestProvider(String refString, String hapString, HashMap<Integer, Byte> expected) {
super(BasicGenotypingTestProvider.class, String.format("Haplotype to VCF test: ref = %s, alignment = %s", refString,hapString)); super(BasicGenotypingTestProvider.class, String.format("Haplotype to VCF test: ref = %s, alignment = %s", refString,hapString));
@ -153,7 +152,7 @@ public class GenotypingEngineUnitTest extends BaseTest {
public HashMap<Integer,VariantContext> calcAlignment() { public HashMap<Integer,VariantContext> calcAlignment() {
final SWPairwiseAlignment alignment = new SWPairwiseAlignment(ref, hap); final SWPairwiseAlignment alignment = new SWPairwiseAlignment(ref, hap);
return ge.generateVCsFromAlignment( alignment.getAlignmentStart2wrt1(), alignment.getCigar(), ref, hap, genomeLocParser.createGenomeLoc("4",1,1+ref.length), "name", 0); return GenotypingEngine.generateVCsFromAlignment( new Haplotype(hap), alignment.getAlignmentStart2wrt1(), alignment.getCigar(), ref, hap, genomeLocParser.createGenomeLoc("4",1,1+ref.length), "name");
} }
} }

36
protected/java/test/org/broadinstitute/sting/gatk/walkers/haplotypecaller/HaplotypeCallerIntegrationTest.java
View File

@ -8,9 +8,10 @@ import java.util.Arrays;
public class HaplotypeCallerIntegrationTest extends WalkerTest { public class HaplotypeCallerIntegrationTest extends WalkerTest {
final static String REF = b37KGReference; final static String REF = b37KGReference;
final String NA12878_BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam"; final String NA12878_BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam";
final String NA12878_CHR20_BAM = validationDataLocation + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam";
final String CEUTRIO_BAM = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam"; final String CEUTRIO_BAM = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam";
final String NA12878_RECALIBRATED_BAM = privateTestDir + "NA12878.100kb.BQSRv2.example.bam";
final String INTERVALS_FILE = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals"; final String INTERVALS_FILE = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals";
//final String RECAL_FILE = validationDataLocation + "NA12878.kmer.8.subset.recal_data.bqsr";
private void HCTest(String bam, String args, String md5) { private void HCTest(String bam, String args, String md5) {
final String base = String.format("-T HaplotypeCaller -R %s -I %s -L %s", REF, bam, INTERVALS_FILE) + " --no_cmdline_in_header -o %s -minPruning 3"; final String base = String.format("-T HaplotypeCaller -R %s -I %s -L %s", REF, bam, INTERVALS_FILE) + " --no_cmdline_in_header -o %s -minPruning 3";
@ -20,28 +21,49 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest {
@Test @Test
public void testHaplotypeCallerMultiSample() { public void testHaplotypeCallerMultiSample() {
HCTest(CEUTRIO_BAM, "", "6b30c7e1b6bbe80d180d9d67441cec12"); HCTest(CEUTRIO_BAM, "", "e5b4a0627a1d69b9356f8a7cd2260e89");
} }
@Test @Test
public void testHaplotypeCallerSingleSample() { public void testHaplotypeCallerSingleSample() {
HCTest(NA12878_BAM, "", "4cdfbfeadef00725974828310558d7d4"); HCTest(NA12878_BAM, "", "202d5b6edaf74f411c170099749f202f");
} }
@Test @Test
public void testHaplotypeCallerMultiSampleGGA() { public void testHaplotypeCallerMultiSampleGGA() {
HCTest(CEUTRIO_BAM, "-gt_mode GENOTYPE_GIVEN_ALLELES -alleles " + validationDataLocation + "combined.phase1.chr20.raw.indels.sites.vcf", "6183fb6e374976d7087150009685e043"); HCTest(CEUTRIO_BAM, "-gt_mode GENOTYPE_GIVEN_ALLELES -alleles " + validationDataLocation + "combined.phase1.chr20.raw.indels.sites.vcf", "561931ba3919808ec471e745cb3148c7");
} }
private void HCTestComplexVariants(String bam, String args, String md5) { private void HCTestComplexVariants(String bam, String args, String md5) {
final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10431524-10431924 -L 20:10723661-10724061 -L 20:10903555-10903955 --no_cmdline_in_header -o %s -minPruning 3"; final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10028767-10028967 -L 20:10431524-10431924 -L 20:10723661-10724061 -L 20:10903555-10903955 --no_cmdline_in_header -o %s -minPruning 2";
final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5)); final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5));
executeTest("testHaplotypeCallerComplexVariants: args=" + args, spec); executeTest("testHaplotypeCallerComplexVariants: args=" + args, spec);
} }
@Test @Test
public void testHaplotypeCallerMultiSampleComplex() { public void testHaplotypeCallerMultiSampleComplex() {
HCTestComplexVariants(CEUTRIO_BAM, "", "ab7593a7a60a2e9a66053572f1718df1"); HCTestComplexVariants(CEUTRIO_BAM, "", "3424b398a9f47c8ac606a5c56eb7d8a7");
}
private void HCTestSymbolicVariants(String bam, String args, String md5) {
final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:5947969-5948369 -L 20:61091236-61091636 --no_cmdline_in_header -o %s -minPruning 2";
final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5));
executeTest("testHaplotypeCallerSymbolicVariants: args=" + args, spec);
}
@Test
public void testHaplotypeCallerSingleSampleSymbolic() {
HCTestSymbolicVariants(NA12878_CHR20_BAM, "", "b71cfaea9390136c584c9671b149d573");
}
private void HCTestIndelQualityScores(String bam, String args, String md5) {
final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10,005,000-10,025,000 --no_cmdline_in_header -o %s -minPruning 2";
final WalkerTestSpec spec = new WalkerTestSpec(base + " " + args, Arrays.asList(md5));
executeTest("testHaplotypeCallerIndelQualityScores: args=" + args, spec);
}
@Test
public void testHaplotypeCallerSingleSampleIndelQualityScores() {
HCTestIndelQualityScores(NA12878_RECALIBRATED_BAM, "", "e1f88fac91424740c0eaac1de48b3970");
} }
} }

23
public/java/src/org/broadinstitute/sting/gatk/arguments/GATKArgumentCollection.java
View File

@ -64,12 +64,35 @@ public class GATKArgumentCollection {
@Argument(fullName = "read_buffer_size", shortName = "rbs", doc="Number of reads per SAM file to buffer in memory", required = false) @Argument(fullName = "read_buffer_size", shortName = "rbs", doc="Number of reads per SAM file to buffer in memory", required = false)
public Integer readBufferSize = null; public Integer readBufferSize = null;
// --------------------------------------------------------------------------------------------------------------
//
// GATKRunReport options
//
// --------------------------------------------------------------------------------------------------------------
@Argument(fullName = "phone_home", shortName = "et", doc="What kind of GATK run report should we generate? STANDARD is the default, can be NO_ET so nothing is posted to the run repository. Please see " + GATKRunReport.PHONE_HOME_DOCS_URL + " for details.", required = false) @Argument(fullName = "phone_home", shortName = "et", doc="What kind of GATK run report should we generate? STANDARD is the default, can be NO_ET so nothing is posted to the run repository. Please see " + GATKRunReport.PHONE_HOME_DOCS_URL + " for details.", required = false)
public GATKRunReport.PhoneHomeOption phoneHomeType = GATKRunReport.PhoneHomeOption.STANDARD; public GATKRunReport.PhoneHomeOption phoneHomeType = GATKRunReport.PhoneHomeOption.STANDARD;
@Argument(fullName = "gatk_key", shortName = "K", doc="GATK Key file. Required if running with -et NO_ET. Please see " + GATKRunReport.PHONE_HOME_DOCS_URL + " for details.", required = false) @Argument(fullName = "gatk_key", shortName = "K", doc="GATK Key file. Required if running with -et NO_ET. Please see " + GATKRunReport.PHONE_HOME_DOCS_URL + " for details.", required = false)
public File gatkKeyFile = null; public File gatkKeyFile = null;
/**
* The GATKRunReport supports (as of GATK 2.2) tagging GATK runs with an arbitrary String tag that can be
* used to group together runs during later analysis. One use of this capability is to tag runs as GATK
* performance tests, so that the performance of the GATK over time can be assessed from the logs directly.
*
* Note that the tags do not conform to any ontology, so you are free to use any tags that you might find
* meaningful.
*/
@Argument(fullName = "tag", shortName = "tag", doc="Arbitrary tag string to identify this GATK run as part of a group of runs, for later analysis", required = false)
public String tag = "NA";
// --------------------------------------------------------------------------------------------------------------
//
// XXX
//
// --------------------------------------------------------------------------------------------------------------
@Argument(fullName = "read_filter", shortName = "rf", doc = "Specify filtration criteria to apply to each read individually", required = false) @Argument(fullName = "read_filter", shortName = "rf", doc = "Specify filtration criteria to apply to each read individually", required = false)
public List<String> readFilters = new ArrayList<String>(); public List<String> readFilters = new ArrayList<String>();

62
public/java/src/org/broadinstitute/sting/gatk/arguments/StandardCallerArgumentCollection.java 100644
View File

@ -0,0 +1,62 @@
package org.broadinstitute.sting.gatk.arguments;
import org.broadinstitute.sting.commandline.Advanced;
import org.broadinstitute.sting.commandline.Argument;
import org.broadinstitute.sting.commandline.Input;
import org.broadinstitute.sting.commandline.RodBinding;
import org.broadinstitute.sting.gatk.walkers.genotyper.GenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.UnifiedGenotyperEngine;
import org.broadinstitute.sting.utils.variantcontext.VariantContext;
/**
* Created with IntelliJ IDEA.
* User: rpoplin
* Date: 8/20/12
* A collection of arguments that are common to the various callers.
* This is pulled out so that every caller isn't exposed to the arguments from every other caller.
*/
public class StandardCallerArgumentCollection {
/**
* The expected heterozygosity value used to compute prior likelihoods for any locus. The default priors are:
* het = 1e-3, P(hom-ref genotype) = 1 - 3 * het / 2, P(het genotype) = het, P(hom-var genotype) = het / 2
*/
@Argument(fullName = "heterozygosity", shortName = "hets", doc = "Heterozygosity value used to compute prior likelihoods for any locus", required = false)
public Double heterozygosity = UnifiedGenotyperEngine.HUMAN_SNP_HETEROZYGOSITY;
@Argument(fullName = "genotyping_mode", shortName = "gt_mode", doc = "Specifies how to determine the alternate alleles to use for genotyping", required = false)
public GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE GenotypingMode = GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.DISCOVERY;
@Argument(fullName = "output_mode", shortName = "out_mode", doc = "Specifies which type of calls we should output", required = false)
public UnifiedGenotyperEngine.OUTPUT_MODE OutputMode = UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_VARIANTS_ONLY;
/**
* The minimum phred-scaled Qscore threshold to separate high confidence from low confidence calls. Only genotypes with
* confidence >= this threshold are emitted as called sites. A reasonable threshold is 30 for high-pass calling (this
* is the default).
*/
@Argument(fullName = "standard_min_confidence_threshold_for_calling", shortName = "stand_call_conf", doc = "The minimum phred-scaled confidence threshold at which variants should be called", required = false)
public double STANDARD_CONFIDENCE_FOR_CALLING = 30.0;
/**
* This argument allows you to emit low quality calls as filtered records.
*/
@Argument(fullName = "standard_min_confidence_threshold_for_emitting", shortName = "stand_emit_conf", doc = "The minimum phred-scaled confidence threshold at which variants should be emitted (and filtered with LowQual if less than the calling threshold)", required = false)
public double STANDARD_CONFIDENCE_FOR_EMITTING = 30.0;
/**
* When the UnifiedGenotyper is put into GENOTYPE_GIVEN_ALLELES mode it will genotype the samples using only the alleles provide in this rod binding
*/
@Input(fullName="alleles", shortName = "alleles", doc="The set of alleles at which to genotype when --genotyping_mode is GENOTYPE_GIVEN_ALLELES", required=false)
public RodBinding<VariantContext> alleles;
/**
* If there are more than this number of alternate alleles presented to the genotyper (either through discovery or GENOTYPE_GIVEN ALLELES),
* then only this many alleles will be used. Note that genotyping sites with many alternate alleles is both CPU and memory intensive and it
* scales exponentially based on the number of alternate alleles. Unless there is a good reason to change the default value, we highly recommend
* that you not play around with this parameter.
*/
@Advanced
@Argument(fullName = "max_alternate_alleles", shortName = "maxAltAlleles", doc = "Maximum number of alternate alleles to genotype", required = false)
public int MAX_ALTERNATE_ALLELES = 3;
}

14
public/java/src/org/broadinstitute/sting/gatk/iterators/LocusIteratorByState.java
View File

@ -301,14 +301,15 @@ public class LocusIteratorByState extends LocusIterator {
final CigarOperator op = state.getCurrentCigarOperator(); // current cigar operator final CigarOperator op = state.getCurrentCigarOperator(); // current cigar operator
final CigarElement nextElement = state.peekForwardOnGenome(); // next cigar element final CigarElement nextElement = state.peekForwardOnGenome(); // next cigar element
final CigarElement lastElement = state.peekBackwardOnGenome(); // last cigar element final CigarElement lastElement = state.peekBackwardOnGenome(); // last cigar element
final boolean isSingleElementCigar = nextElement == lastElement;
final CigarOperator nextOp = nextElement.getOperator(); // next cigar operator final CigarOperator nextOp = nextElement.getOperator(); // next cigar operator
final CigarOperator lastOp = lastElement.getOperator(); // last cigar operator final CigarOperator lastOp = lastElement.getOperator(); // last cigar operator
final int readOffset = state.getReadOffset(); // the base offset on this read int readOffset = state.getReadOffset(); // the base offset on this read
final boolean isBeforeDeletion = nextOp == CigarOperator.DELETION; final boolean isBeforeDeletion = nextOp == CigarOperator.DELETION;
final boolean isAfterDeletion = lastOp == CigarOperator.DELETION; final boolean isAfterDeletion = lastOp == CigarOperator.DELETION;
final boolean isBeforeInsertion = nextOp == CigarOperator.INSERTION; final boolean isBeforeInsertion = nextOp == CigarOperator.INSERTION;
final boolean isAfterInsertion = lastOp == CigarOperator.INSERTION; final boolean isAfterInsertion = lastOp == CigarOperator.INSERTION && !isSingleElementCigar;
final boolean isNextToSoftClip = nextOp == CigarOperator.S || (state.getGenomeOffset() == 0 && read.getSoftStart() != read.getAlignmentStart()); final boolean isNextToSoftClip = nextOp == CigarOperator.S || (state.getGenomeOffset() == 0 && read.getSoftStart() != read.getAlignmentStart());
int nextElementLength = nextElement.getLength(); int nextElementLength = nextElement.getLength();
@ -328,8 +329,13 @@ public class LocusIteratorByState extends LocusIterator {
else { else {
if (!filterBaseInRead(read, location.getStart())) { if (!filterBaseInRead(read, location.getStart())) {
String insertedBaseString = null; String insertedBaseString = null;
if (nextOp == CigarOperator.I) if (nextOp == CigarOperator.I) {
insertedBaseString = new String(Arrays.copyOfRange(read.getReadBases(), readOffset + 1, readOffset + 1 + nextElement.getLength())); final int insertionOffset = isSingleElementCigar ? 0 : 1;
// TODO -- someone please implement a better fix for the single element insertion CIGAR!
if (isSingleElementCigar)
readOffset -= (nextElement.getLength() - 1); // LIBS has passed over the insertion bases!
insertedBaseString = new String(Arrays.copyOfRange(read.getReadBases(), readOffset + insertionOffset, readOffset + insertionOffset + nextElement.getLength()));
}
pile.add(new PileupElement(read, readOffset, false, isBeforeDeletion, isAfterDeletion, isBeforeInsertion, isAfterInsertion, isNextToSoftClip, insertedBaseString, nextElementLength)); pile.add(new PileupElement(read, readOffset, false, isBeforeDeletion, isAfterDeletion, isBeforeInsertion, isAfterInsertion, isNextToSoftClip, insertedBaseString, nextElementLength));
size++; size++;

5
public/java/src/org/broadinstitute/sting/gatk/phonehome/GATKRunReport.java
View File

@ -138,6 +138,9 @@ public class GATKRunReport {
@Element(required = true, name = "iterations") @Element(required = true, name = "iterations")
private long nIterations; private long nIterations;
@Element(required = true, name = "tag")
private String tag;
public enum PhoneHomeOption { public enum PhoneHomeOption {
/** Disable phone home */ /** Disable phone home */
NO_ET, NO_ET,
@ -186,6 +189,8 @@ public class GATKRunReport {
nIterations = engine.getCumulativeMetrics().getNumIterations(); nIterations = engine.getCumulativeMetrics().getNumIterations();
} }
tag = engine.getArguments().tag;
// user and hostname -- information about the runner of the GATK // user and hostname -- information about the runner of the GATK
userName = System.getProperty("user.name"); userName = System.getProperty("user.name");
hostName = Utils.resolveHostname(); hostName = Utils.resolveHostname();

11
public/java/src/org/broadinstitute/sting/gatk/traversals/TraverseActiveRegions.java
View File

@ -12,6 +12,7 @@ import org.broadinstitute.sting.gatk.walkers.DataSource;
import org.broadinstitute.sting.gatk.walkers.Walker; import org.broadinstitute.sting.gatk.walkers.Walker;
import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLoc;
import org.broadinstitute.sting.utils.GenomeLocSortedSet; import org.broadinstitute.sting.utils.GenomeLocSortedSet;
import org.broadinstitute.sting.utils.activeregion.ActiveRegion;
import org.broadinstitute.sting.utils.activeregion.ActivityProfile; import org.broadinstitute.sting.utils.activeregion.ActivityProfile;
import org.broadinstitute.sting.utils.activeregion.ActivityProfileResult; import org.broadinstitute.sting.utils.activeregion.ActivityProfileResult;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
@ -31,7 +32,7 @@ public class TraverseActiveRegions <M,T> extends TraversalEngine<M,T,ActiveRegio
*/ */
protected final static Logger logger = Logger.getLogger(TraversalEngine.class); protected final static Logger logger = Logger.getLogger(TraversalEngine.class);
private final LinkedList<org.broadinstitute.sting.utils.activeregion.ActiveRegion> workQueue = new LinkedList<org.broadinstitute.sting.utils.activeregion.ActiveRegion>(); private final LinkedList<ActiveRegion> workQueue = new LinkedList<ActiveRegion>();
private final LinkedHashSet<GATKSAMRecord> myReads = new LinkedHashSet<GATKSAMRecord>(); private final LinkedHashSet<GATKSAMRecord> myReads = new LinkedHashSet<GATKSAMRecord>();
@Override @Override
@ -110,18 +111,18 @@ public class TraverseActiveRegions <M,T> extends TraversalEngine<M,T,ActiveRegio
// add these blocks of work to the work queue // add these blocks of work to the work queue
// band-pass filter the list of isActive probabilities and turn into active regions // band-pass filter the list of isActive probabilities and turn into active regions
final ActivityProfile bandPassFiltered = profile.bandPassFilter(); final ActivityProfile bandPassFiltered = profile.bandPassFilter();
final List<org.broadinstitute.sting.utils.activeregion.ActiveRegion> activeRegions = bandPassFiltered.createActiveRegions( activeRegionExtension, maxRegionSize ); final List<ActiveRegion> activeRegions = bandPassFiltered.createActiveRegions( activeRegionExtension, maxRegionSize );
// add active regions to queue of regions to process // add active regions to queue of regions to process
// first check if can merge active regions over shard boundaries // first check if can merge active regions over shard boundaries
if( !activeRegions.isEmpty() ) { if( !activeRegions.isEmpty() ) {
if( !workQueue.isEmpty() ) { if( !workQueue.isEmpty() ) {
final org.broadinstitute.sting.utils.activeregion.ActiveRegion last = workQueue.getLast(); final ActiveRegion last = workQueue.getLast();
final org.broadinstitute.sting.utils.activeregion.ActiveRegion first = activeRegions.get(0); final ActiveRegion first = activeRegions.get(0);
if( last.isActive == first.isActive && last.getLocation().contiguousP(first.getLocation()) && last.getLocation().size() + first.getLocation().size() <= maxRegionSize ) { if( last.isActive == first.isActive && last.getLocation().contiguousP(first.getLocation()) && last.getLocation().size() + first.getLocation().size() <= maxRegionSize ) {
workQueue.removeLast(); workQueue.removeLast();
activeRegions.remove(first); activeRegions.remove(first);
workQueue.add( new org.broadinstitute.sting.utils.activeregion.ActiveRegion(last.getLocation().union(first.getLocation()), first.isActive, this.engine.getGenomeLocParser(), activeRegionExtension) ); workQueue.add( new ActiveRegion(last.getLocation().union(first.getLocation()), first.isActive, this.engine.getGenomeLocParser(), activeRegionExtension) );
} }
} }
workQueue.addAll( activeRegions ); workQueue.addAll( activeRegions );

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalance.java
View File

@ -30,6 +30,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -51,7 +52,12 @@ public class AlleleBalance extends InfoFieldAnnotation {
char[] BASES = {'A','C','G','T'}; char[] BASES = {'A','C','G','T'};
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;

10
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/AlleleBalanceBySample.java
View File

@ -6,6 +6,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
@ -24,7 +25,14 @@ import java.util.List;
*/ */
public class AlleleBalanceBySample extends GenotypeAnnotation implements ExperimentalAnnotation { public class AlleleBalanceBySample extends GenotypeAnnotation implements ExperimentalAnnotation {
public void annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g, final GenotypeBuilder gb) { public void annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final AlignmentContext stratifiedContext,
final VariantContext vc,
final Genotype g,
final GenotypeBuilder gb,
final PerReadAlleleLikelihoodMap alleleLikelihoodMap){
Double ratio = annotateSNP(stratifiedContext, vc, g); Double ratio = annotateSNP(stratifiedContext, vc, g);
if (ratio == null) if (ratio == null)
return; return;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseCounts.java
View File

@ -36,6 +36,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.BaseUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -52,7 +53,12 @@ import java.util.Map;
*/ */
public class BaseCounts extends InfoFieldAnnotation { public class BaseCounts extends InfoFieldAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;

77
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/BaseQualityRankSumTest.java
View File

@ -2,6 +2,8 @@ package org.broadinstitute.sting.gatk.walkers.annotator;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.BaseUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
@ -21,66 +23,37 @@ public class BaseQualityRankSumTest extends RankSumTest implements StandardAnnot
public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("BaseQRankSum", 1, VCFHeaderLineType.Float, "Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities")); } public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("BaseQRankSum", 1, VCFHeaderLineType.Float, "Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities")); }
protected void fillQualsFromPileup(byte ref, List<Byte> alts, ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) { protected void fillQualsFromPileup(final List<Allele> allAlleles, final int refLoc,
for ( final PileupElement p : pileup ) { final ReadBackedPileup pileup,
if( isUsableBase(p) ) { final PerReadAlleleLikelihoodMap alleleLikelihoodMap,
if ( p.getBase() == ref ) final List<Double> refQuals, final List<Double> altQuals){
refQuals.add((double)p.getQual());
else if ( alts.contains(p.getBase()) )
altQuals.add((double)p.getQual());
}
}
}
protected void fillQualsFromPileup(final Allele ref, final List<Allele> alts, final int refLoc, final Map<Allele, List<GATKSAMRecord>> stratifiedContext, final List<Double> refQuals, final List<Double> altQuals) {
// TODO -- implement me; how do we pull out the correct offset from the read?
return;
/*
for ( final Map.Entry<Allele, List<GATKSAMRecord>> 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 (alleleLikelihoodMap == null) {
// use fast SNP-based version if we don't have per-read allele likelihoods
for ( final PileupElement p : pileup ) {
if ( isUsableBase(p) ) { if ( isUsableBase(p) ) {
if ( matchesRef ) if ( allAlleles.get(0).equals(Allele.create(p.getBase(),true)) ) {
refQuals.add((double)p.getQual()); refQuals.add((double)p.getQual());
else } else if ( allAlleles.contains(Allele.create(p.getBase()))) {
altQuals.add((double)p.getQual()); altQuals.add((double)p.getQual());
}
}
}
*/
}
protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) {
// equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele ?
HashMap<PileupElement,LinkedHashMap<Allele,Double>> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap();
for (final PileupElement p: pileup) {
if (indelLikelihoodMap.containsKey(p)) {
// retrieve likelihood information corresponding to this read
LinkedHashMap<Allele,Double> el = indelLikelihoodMap.get(p);
// by design, first element in LinkedHashMap was ref allele
double refLikelihood=0.0, altLikelihood=Double.NEGATIVE_INFINITY;
for (Map.Entry<Allele, Double> entry : el.entrySet()) {
if (entry.getKey().isReference())
refLikelihood = entry.getValue();
else {
double like = entry.getValue();
if (like >= altLikelihood)
altLikelihood = like;
} }
} }
if (refLikelihood > altLikelihood + INDEL_LIKELIHOOD_THRESH)
refQuals.add(-10.0*refLikelihood);
else if (altLikelihood > refLikelihood + INDEL_LIKELIHOOD_THRESH)
altQuals.add(-10.0*altLikelihood);
} }
return;
}
for (Map<Allele,Double> el : alleleLikelihoodMap.getLikelihoodMapValues()) {
final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el);
if (a.isNoCall())
continue; // read is non-informative
if (a.isReference())
refQuals.add(-10.0*(double)el.get(a));
else if (allAlleles.contains(a))
altQuals.add(-10.0*(double)el.get(a));
} }
} }
} }

15
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ChromosomeCounts.java
View File

@ -34,6 +34,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -61,7 +62,12 @@ public class ChromosomeCounts extends InfoFieldAnnotation implements StandardAnn
private Set<String> founderIds = new HashSet<String>(); private Set<String> founderIds = new HashSet<String>();
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap ) {
if ( ! vc.hasGenotypes() ) if ( ! vc.hasGenotypes() )
return null; return null;
@ -73,13 +79,6 @@ public class ChromosomeCounts extends InfoFieldAnnotation implements StandardAnn
founderIds = ((Walker)walker).getSampleDB().getFounderIds(); founderIds = ((Walker)walker).getSampleDB().getFounderIds();
} }
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) {
if ( ! vc.hasGenotypes() )
return null;
return VariantContextUtils.calculateChromosomeCounts(vc, new HashMap<String, Object>(), true);
}
public List<String> getKeyNames() { public List<String> getKeyNames() {
return Arrays.asList(keyNames); return Arrays.asList(keyNames);
} }

82
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ClippingRankSumTest.java
View File

@ -1,10 +1,8 @@
package org.broadinstitute.sting.gatk.walkers.annotator; package org.broadinstitute.sting.gatk.walkers.annotator;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.QualityUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; 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.pileup.ReadBackedPileup;
import org.broadinstitute.sting.utils.sam.AlignmentUtils; import org.broadinstitute.sting.utils.sam.AlignmentUtils;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
@ -24,68 +22,26 @@ public class ClippingRankSumTest extends RankSumTest {
public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("ClippingRankSum", 1, VCFHeaderLineType.Float, "Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases")); } public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("ClippingRankSum", 1, VCFHeaderLineType.Float, "Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases")); }
protected void fillQualsFromPileup(byte ref, List<Byte> alts, ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) {
return;
// This working implementation below needs to be tested for the UG pipeline
/*
for ( final PileupElement p : pileup ) {
if ( isUsableBase(p) ) {
if ( p.getBase() == ref ) {
refQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead()));
} else if ( alts.contains(p.getBase()) ) {
altQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead()));
}
}
}
*/
}
protected void fillQualsFromPileup(final Allele ref, final List<Allele> alts, final int refLoc, final Map<Allele, List<GATKSAMRecord>> stratifiedContext, final List<Double> refQuals, final List<Double> altQuals) { protected void fillQualsFromPileup(final List<Allele> allAlleles,
for ( final Map.Entry<Allele, List<GATKSAMRecord>> alleleBin : stratifiedContext.entrySet() ) { final int refLoc,
final boolean matchesRef = ref.equals(alleleBin.getKey()); final ReadBackedPileup pileup,
final boolean matchesAlt = alts.contains(alleleBin.getKey()); final PerReadAlleleLikelihoodMap likelihoodMap, final List<Double> refQuals, final List<Double> altQuals) {
if ( !matchesRef && !matchesAlt ) // todo - only support non-pileup case for now, e.g. active-region based version
continue; if (pileup != null || likelihoodMap == null)
return;
for (Map.Entry<GATKSAMRecord,Map<Allele,Double>> el : likelihoodMap.getLikelihoodReadMap().entrySet()) {
final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue());
if (a.isNoCall())
continue; // read is non-informative
if (a.isReference())
refQuals.add((double)AlignmentUtils.getNumHardClippedBases(el.getKey()));
else if (allAlleles.contains(a))
altQuals.add((double)AlignmentUtils.getNumHardClippedBases(el.getKey()));
for ( final GATKSAMRecord read : alleleBin.getValue() ) {
if ( matchesRef )
refQuals.add((double)AlignmentUtils.getNumHardClippedBases(read));
else
altQuals.add((double)AlignmentUtils.getNumHardClippedBases(read));
}
} }
} }
protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) { }
return;
// This working implementation below needs to be tested for the UG pipeline
/*
// equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele ?
HashMap<PileupElement,LinkedHashMap<Allele,Double>> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap();
for (final PileupElement p: pileup) {
if (indelLikelihoodMap.containsKey(p) && p.getMappingQual() != 0 && p.getMappingQual() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE) {
// retrieve likelihood information corresponding to this read
LinkedHashMap<Allele,Double> el = indelLikelihoodMap.get(p);
// by design, first element in LinkedHashMap was ref allele
double refLikelihood=0.0, altLikelihood=Double.NEGATIVE_INFINITY;
for (Allele a : el.keySet()) {
if (a.isReference())
refLikelihood =el.get(a);
else {
double like = el.get(a);
if (like >= altLikelihood)
altLikelihood = like;
}
}
if (refLikelihood > altLikelihood + INDEL_LIKELIHOOD_THRESH)
refQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead()));
else if (altLikelihood > refLikelihood + INDEL_LIKELIHOOD_THRESH)
altQuals.add((double)AlignmentUtils.getNumHardClippedBases(p.getRead()));
}
}
*/
}
}

56
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthOfCoverage.java
View File

@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines;
@ -22,44 +23,37 @@ import java.util.Map;
/** /**
* Total (unfiltered) depth over all samples. * Total (unfiltered) depth over all samples.
* *
* This and AD are complementary fields that are two important ways of thinking about the depth of the data for this sample * While the sample-level (FORMAT) DP field describes the total depth of reads that passed the Unified Genotyper's
* at this site. The DP field describe the total depth of reads that passed the Unified Genotypers internal * internal quality control metrics (like MAPQ > 17, for example), the INFO field DP represents the unfiltered depth
* quality control metrics (like MAPQ > 17, for example), whatever base was present in the read at this site. * over all samples. Note though that the DP is affected by downsampling (-dcov), so the max value one can obtain for
* The AD values (one for each of REF and ALT fields) is the count of all reads that carried with them the * N samples with -dcov D is N * D
* REF and ALT alleles. The reason for this distinction is that the DP is in some sense reflective of the
* power I have to determine the genotype of the sample at this site, while the AD tells me how many times
* I saw each of the REF and ALT alleles in the reads, free of any bias potentially introduced by filtering
* the reads. If, for example, I believe there really is a an A/T polymorphism at a site, then I would like
* to know the counts of A and T bases in this sample, even for reads with poor mapping quality that would
* normally be excluded from the statistical calculations going into GQ and QUAL.
*
* 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, ActiveRegionBasedAnnotation { public class DepthOfCoverage extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
if ( stratifiedContexts.size() == 0 ) final AnnotatorCompatible walker,
return null; final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap ) {
int depth = 0; int depth = 0;
for ( Map.Entry<String, AlignmentContext> sample : stratifiedContexts.entrySet() ) if (stratifiedContexts != null) {
depth += sample.getValue().getBasePileup().depthOfCoverage(); if ( stratifiedContexts.size() == 0 )
Map<String, Object> map = new HashMap<String, Object>(); return null;
map.put(getKeyNames().get(0), String.format("%d", depth));
return map;
}
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) { for ( Map.Entry<String, AlignmentContext> sample : stratifiedContexts.entrySet() )
if ( stratifiedContexts.size() == 0 ) depth += sample.getValue().getBasePileup().depthOfCoverage();
return null;
int depth = 0;
for ( final Map<Allele, List<GATKSAMRecord>> alleleBins : stratifiedContexts.values() ) {
for ( final List<GATKSAMRecord> alleleBin : alleleBins.values() ) {
depth += alleleBin.size();
}
} }
else if (perReadAlleleLikelihoodMap != null) {
if ( perReadAlleleLikelihoodMap.size() == 0 )
return null;
for ( Map.Entry<String, PerReadAlleleLikelihoodMap> sample : perReadAlleleLikelihoodMap.entrySet() )
depth += sample.getValue().getNumberOfStoredElements();
}
else
return null;
Map<String, Object> map = new HashMap<String, Object>(); Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%d", depth)); map.put(getKeyNames().get(0), String.format("%d", depth));

78
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/DepthPerAlleleBySample.java
View File

@ -6,11 +6,13 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine;
import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; 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.Allele;
import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.Genotype;
import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder;
@ -19,40 +21,49 @@ import org.broadinstitute.sting.utils.variantcontext.VariantContext;
import java.util.Arrays; import java.util.Arrays;
import java.util.HashMap; import java.util.HashMap;
import java.util.List; import java.util.List;
import java.util.Map;
/** /**
* The depth of coverage of each VCF allele in this sample. * The depth of coverage of each VCF allele in this sample.
* *
* This and DP are complementary fields that are two important ways of thinking about the depth of the data for this sample * The AD and DP are complementary fields that are two important ways of thinking about the depth of the data for this
* at this site. The DP field describe the total depth of reads that passed the Unified Genotypers internal * sample at this site. While the sample-level (FORMAT) DP field describes the total depth of reads that passed the
* quality control metrics (like MAPQ > 17, for example), whatever base was present in the read at this site. * Unified Genotyper's internal quality control metrics (like MAPQ > 17, for example), the AD values (one for each of
* The AD values (one for each of REF and ALT fields) is the count of all reads that carried with them the * REF and ALT fields) is the unfiltered count of all reads that carried with them the
* REF and ALT alleles. The reason for this distinction is that the DP is in some sense reflective of the * REF and ALT alleles. The reason for this distinction is that the DP is in some sense reflective of the
* power I have to determine the genotype of the sample at this site, while the AD tells me how many times * power I have to determine the genotype of the sample at this site, while the AD tells me how many times
* I saw each of the REF and ALT alleles in the reads, free of any bias potentially introduced by filtering * I saw each of the REF and ALT alleles in the reads, free of any bias potentially introduced by filtering
* the reads. If, for example, I believe there really is a an A/T polymorphism at a site, then I would like * the reads. If, for example, I believe there really is a an A/T polymorphism at a site, then I would like
* to know the counts of A and T bases in this sample, even for reads with poor mapping quality that would * to know the counts of A and T bases in this sample, even for reads with poor mapping quality that would
* normally be excluded from the statistical calculations going into GQ and QUAL. Please note, however, that * normally be excluded from the statistical calculations going into GQ and QUAL. Please note, however, that
* the AD isn't necessarily calculated exactly for indels (it counts as non-reference only those indels that * the AD isn't necessarily calculated exactly for indels. Only reads which are statistically favoring one allele over the other are counted.
* are actually present and correctly left-aligned in the alignments themselves). Because of this fact and * Because of this fact, the sum of AD may be different than the individual sample depth, especially when there are
* because the AD includes reads and bases that were filtered by the Unified Genotyper, <b>one should not base * many non-informatice reads.
* assumptions about the underlying genotype based on it</b>; instead, the genotype likelihoods (PLs) are what * Because the AD includes reads and bases that were filtered by the Unified Genotyper and in case of indels is based on a statistical computation,
* determine the genotype calls (see below). * <b>one should not base assumptions about the underlying genotype based on it</b>;
* instead, the genotype likelihoods (PLs) are what determine the genotype calls.
*/ */
public class DepthPerAlleleBySample extends GenotypeAnnotation implements StandardAnnotation { public class DepthPerAlleleBySample extends GenotypeAnnotation implements StandardAnnotation {
public void annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, AlignmentContext stratifiedContext, VariantContext vc, Genotype g, GenotypeBuilder gb) { public void annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final AlignmentContext stratifiedContext,
final VariantContext vc,
final Genotype g,
final GenotypeBuilder gb,
final PerReadAlleleLikelihoodMap alleleLikelihoodMap) {
if ( g == null || !g.isCalled() ) if ( g == null || !g.isCalled() )
return; return;
if ( vc.isSNP() ) if (alleleLikelihoodMap != null && !alleleLikelihoodMap.isEmpty())
annotateSNP(stratifiedContext, vc, gb); annotateWithLikelihoods(alleleLikelihoodMap, vc, gb);
else if ( vc.isIndel() ) else if ( stratifiedContext != null && (vc.isSNP()))
annotateIndel(stratifiedContext, ref.getBase(), vc, gb); annotateWithPileup(stratifiedContext, vc, gb);
} }
private void annotateSNP(final AlignmentContext stratifiedContext, final VariantContext vc, final GenotypeBuilder gb) { private void annotateWithPileup(final AlignmentContext stratifiedContext, final VariantContext vc, final GenotypeBuilder gb) {
HashMap<Byte, Integer> alleleCounts = new HashMap<Byte, Integer>(); HashMap<Byte, Integer> alleleCounts = new HashMap<Byte, Integer>();
for ( Allele allele : vc.getAlleles() ) for ( Allele allele : vc.getAlleles() )
@ -73,48 +84,29 @@ public class DepthPerAlleleBySample extends GenotypeAnnotation implements Standa
gb.AD(counts); gb.AD(counts);
} }
private void annotateIndel(final AlignmentContext stratifiedContext, final byte refBase, final VariantContext vc, final GenotypeBuilder gb) { private void annotateWithLikelihoods(final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap, final VariantContext vc, final GenotypeBuilder gb) {
ReadBackedPileup pileup = stratifiedContext.getBasePileup();
if ( pileup == null )
return;
final HashMap<Allele, Integer> alleleCounts = new HashMap<Allele, Integer>(); final HashMap<Allele, Integer> alleleCounts = new HashMap<Allele, Integer>();
final Allele refAllele = vc.getReference();
for ( final Allele allele : vc.getAlleles() ) { for ( final Allele allele : vc.getAlleles() ) {
alleleCounts.put(allele, 0); alleleCounts.put(allele, 0);
} }
for (Map.Entry<GATKSAMRecord,Map<Allele,Double>> el : perReadAlleleLikelihoodMap.getLikelihoodReadMap().entrySet()) {
final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue());
if (a.isNoCall())
continue; // read is non-informative
if (!vc.getAlleles().contains(a))
continue; // sanity check - shouldn't be needed
alleleCounts.put(a,alleleCounts.get(a)+1);
for ( PileupElement p : pileup ) {
if ( p.isBeforeInsertion() ) {
final Allele insertion = Allele.create((char)refBase + p.getEventBases(), false);
if ( alleleCounts.containsKey(insertion) ) {
alleleCounts.put(insertion, alleleCounts.get(insertion)+1);
}
} else if ( p.isBeforeDeletionStart() ) {
if ( p.getEventLength() == refAllele.length() - 1 ) {
// this is indeed the deletion allele recorded in VC
final Allele deletion = Allele.create(refBase);
if ( alleleCounts.containsKey(deletion) ) {
alleleCounts.put(deletion, alleleCounts.get(deletion)+1);
}
}
} else if ( p.getRead().getAlignmentEnd() > vc.getStart() ) {
alleleCounts.put(refAllele, alleleCounts.get(refAllele)+1);
}
} }
final int[] counts = new int[alleleCounts.size()]; final int[] counts = new int[alleleCounts.size()];
counts[0] = alleleCounts.get(refAllele); counts[0] = alleleCounts.get(vc.getReference());
for (int i = 0; i < vc.getAlternateAlleles().size(); i++) for (int i = 0; i < vc.getAlternateAlleles().size(); i++)
counts[i+1] = alleleCounts.get( vc.getAlternateAllele(i) ); counts[i+1] = alleleCounts.get( vc.getAlternateAllele(i) );
gb.AD(counts); gb.AD(counts);
} }
// public String getIndelBases()
public List<String> getKeyNames() { return Arrays.asList(VCFConstants.GENOTYPE_ALLELE_DEPTHS); } public List<String> getKeyNames() { return Arrays.asList(VCFConstants.GENOTYPE_ALLELE_DEPTHS); }
public List<VCFFormatHeaderLine> getDescriptions() { public List<VCFFormatHeaderLine> getDescriptions() {

132
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/FisherStrand.java
View File

@ -33,6 +33,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.QualityUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -54,21 +55,30 @@ import java.util.*;
public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {
private static final String FS = "FS"; private static final String FS = "FS";
private static final double MIN_PVALUE = 1E-320; private static final double MIN_PVALUE = 1E-320;
public Map<String, Object> annotate(final RefMetaDataTracker tracker,
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( !vc.isVariant() ) if ( !vc.isVariant() )
return null; return null;
int[][] table; int[][] table;
if ( vc.isSNP() ) if (vc.isSNP() && stratifiedContexts != null) {
table = getSNPContingencyTable(stratifiedContexts, vc.getReference(), vc.getAltAlleleWithHighestAlleleCount()); table = getSNPContingencyTable(stratifiedContexts, vc.getReference(), vc.getAltAlleleWithHighestAlleleCount());
else if ( vc.isIndel() || vc.isMixed() ) { }
table = getIndelContingencyTable(stratifiedContexts); else if (stratifiedPerReadAlleleLikelihoodMap != null) {
if (table == null) // either SNP with no alignment context, or indels: per-read likelihood map needed
return null; table = getContingencyTable(stratifiedPerReadAlleleLikelihoodMap, vc.getReference(), vc.getAltAlleleWithHighestAlleleCount());
} }
else else
// for non-snp variants, we need per-read likelihoods.
// for snps, we can get same result from simple pileup
return null;
if (table == null)
return null; return null;
Double pvalue = Math.max(pValueForContingencyTable(table), MIN_PVALUE); Double pvalue = Math.max(pValueForContingencyTable(table), MIN_PVALUE);
@ -80,22 +90,6 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat
return map; return map;
} }
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) {
if ( !vc.isVariant() )
return null;
final int[][] table = getContingencyTable(stratifiedContexts, vc.getReference(), vc.getAltAlleleWithHighestAlleleCount());
final Double pvalue = Math.max(pValueForContingencyTable(table), MIN_PVALUE);
if ( pvalue == null )
return null;
final Map<String, Object> map = new HashMap<String, Object>();
map.put(FS, String.format("%.3f", QualityUtils.phredScaleErrorRate(pvalue)));
return map;
}
public List<String> getKeyNames() { public List<String> getKeyNames() {
return Arrays.asList(FS); return Arrays.asList(FS);
} }
@ -161,7 +155,7 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat
table[0][1] += 1; table[0][1] += 1;
table[1][1] -= 1; table[1][1] -= 1;
return (table[0][0] >= 0 && table[1][1] >= 0) ? true : false; return (table[0][0] >= 0 && table[1][1] >= 0);
} }
private static boolean unrotateTable(int[][] table) { private static boolean unrotateTable(int[][] table) {
@ -171,7 +165,7 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat
table[0][1] -= 1; table[0][1] -= 1;
table[1][1] += 1; table[1][1] += 1;
return (table[0][1] >= 0 && table[1][0] >= 0) ? true : false; return (table[0][1] >= 0 && table[1][0] >= 0);
} }
private static double computePValue(int[][] table) { private static double computePValue(int[][] table) {
@ -218,31 +212,31 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat
* allele2 # # * allele2 # #
* @return a 2x2 contingency table * @return a 2x2 contingency table
*/ */
private static int[][] getContingencyTable(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, Allele ref, Allele alt) { private static int[][] getContingencyTable( final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap,
final Allele ref, final Allele alt) {
int[][] table = new int[2][2]; int[][] table = new int[2][2];
for ( final Map<Allele, List<GATKSAMRecord>> alleleBins : stratifiedContexts.values() ) { for (PerReadAlleleLikelihoodMap maps : stratifiedPerReadAlleleLikelihoodMap.values() ) {
for ( final Map.Entry<Allele, List<GATKSAMRecord>> alleleBin : alleleBins.entrySet() ) { for (Map.Entry<GATKSAMRecord,Map<Allele,Double>> el : maps.getLikelihoodReadMap().entrySet()) {
if ( el.getKey().isReducedRead() ) // ignore reduced reads
continue;
final boolean matchesRef = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue()).equals(ref,true);
final boolean matchesAlt = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue()).equals(alt,true);
final boolean matchesRef = ref.equals(alleleBin.getKey());
final boolean matchesAlt = alt.equals(alleleBin.getKey());
if ( !matchesRef && !matchesAlt ) if ( !matchesRef && !matchesAlt )
continue; continue;
for ( final GATKSAMRecord read : alleleBin.getValue() ) { boolean isFW = el.getKey().getReadNegativeStrandFlag();
boolean isFW = read.getReadNegativeStrandFlag();
int row = matchesRef ? 0 : 1; int row = matchesRef ? 0 : 1;
int column = isFW ? 0 : 1; int column = isFW ? 0 : 1;
table[row][column]++; table[row][column]++;
}
} }
} }
return table; return table;
} }
/** /**
Allocate and fill a 2x2 strand contingency table. In the end, it'll look something like this: Allocate and fill a 2x2 strand contingency table. In the end, it'll look something like this:
* fw rc * fw rc
@ -275,69 +269,5 @@ public class FisherStrand extends InfoFieldAnnotation implements StandardAnnotat
return table; return table;
} }
/**
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[][] getIndelContingencyTable(Map<String, AlignmentContext> stratifiedContexts) {
final double INDEL_LIKELIHOOD_THRESH = 0.3;
final HashMap<PileupElement,LinkedHashMap<Allele,Double>> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap();
if (indelLikelihoodMap == null)
return null;
int[][] table = new int[2][2];
for ( Map.Entry<String, AlignmentContext> sample : stratifiedContexts.entrySet() ) {
final AlignmentContext context = sample.getValue();
if ( context == null )
continue;
final ReadBackedPileup pileup = context.getBasePileup();
for ( final PileupElement p : pileup ) {
if ( ! RankSumTest.isUsableBase(p, true) || p.getRead().isReducedRead() ) // ignore reduced reads
continue;
if ( indelLikelihoodMap.containsKey(p) ) {
// to classify a pileup element as ref or alt, we look at the likelihood associated with the allele associated to this element.
// A pileup element then has a list of pairs of form (Allele, likelihood of this allele).
// To classify a pileup element as Ref or Alt, we look at the likelihood of corresponding alleles.
// If likelihood of ref allele > highest likelihood of all alt alleles + epsilon, then this pileup element is "ref"
// otherwise if highest alt allele likelihood is > ref likelihood + epsilon, then this pileup element it "alt"
// retrieve likelihood information corresponding to this read
LinkedHashMap<Allele,Double> el = indelLikelihoodMap.get(p);
// by design, first element in LinkedHashMap was ref allele
boolean isFW = !p.getRead().getReadNegativeStrandFlag();
double refLikelihood=0.0, altLikelihood=Double.NEGATIVE_INFINITY;
for (Map.Entry<Allele,Double> entry : el.entrySet()) {
if (entry.getKey().isReference())
refLikelihood = entry.getValue();
else {
double like = entry.getValue();
if (like >= altLikelihood)
altLikelihood = like;
}
}
boolean matchesRef = (refLikelihood > (altLikelihood + INDEL_LIKELIHOOD_THRESH));
boolean matchesAlt = (altLikelihood > (refLikelihood + INDEL_LIKELIHOOD_THRESH));
if ( matchesRef || matchesAlt ) {
int row = matchesRef ? 0 : 1;
int column = isFW ? 0 : 1;
table[row][column]++;
}
}
}
}
return table;
}
} }

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/GCContent.java
View File

@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.BaseUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -25,7 +26,12 @@ import java.util.Map;
@DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} ) @DocumentedGATKFeature( groupName = "Quality Control and Simple Analysis Tools", extraDocs = {CommandLineGATK.class} )
public class GCContent extends InfoFieldAnnotation implements ExperimentalAnnotation { public class GCContent extends InfoFieldAnnotation implements ExperimentalAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
double content = computeGCContent(ref); double content = computeGCContent(ref);
Map<String, Object> map = new HashMap<String, Object>(); Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%.2f", content)); map.put(getKeyNames().get(0), String.format("%.2f", content));

95
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HaplotypeScore.java
View File

@ -28,10 +28,12 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils; import org.broadinstitute.sting.gatk.contexts.AlignmentContextUtils;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.BaseUtils;
import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.Haplotype;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
@ -47,6 +49,7 @@ import org.broadinstitute.sting.utils.variantcontext.Allele;
import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.Genotype;
import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext;
import java.io.Serializable;
import java.util.*; import java.util.*;
/** /**
@ -54,17 +57,31 @@ import java.util.*;
* are indicative of regions with bad alignments, often leading to artifactual SNP and indel calls. * are indicative of regions with bad alignments, often leading to artifactual SNP and indel calls.
* Note that the Haplotype Score is only calculated for sites with read coverage. * Note that the Haplotype Score is only calculated for sites with read coverage.
*/ */
public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnotation { public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {
private final static boolean DEBUG = false; private final static boolean DEBUG = false;
private final static int MIN_CONTEXT_WING_SIZE = 10; private final static int MIN_CONTEXT_WING_SIZE = 10;
private final static int MAX_CONSENSUS_HAPLOTYPES_TO_CONSIDER = 50; private final static int MAX_CONSENSUS_HAPLOTYPES_TO_CONSIDER = 50;
private final static char REGEXP_WILDCARD = '.'; private final static char REGEXP_WILDCARD = '.';
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
if (stratifiedContexts.size() == 0) // size 0 means that call was made by someone else and we have no data here final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if (vc.isSNP() && stratifiedContexts != null)
return annotatePileup(ref, stratifiedContexts, vc);
else if (stratifiedPerReadAlleleLikelihoodMap != null && vc.isVariant())
return annotateWithLikelihoods(stratifiedPerReadAlleleLikelihoodMap, vc);
else
return null; return null;
}
if (!vc.isSNP() && !vc.isIndel() && !vc.isMixed()) private Map<String, Object> annotatePileup(final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc) {
if (stratifiedContexts.size() == 0) // size 0 means that call was made by someone else and we have no data here
return null; return null;
final AlignmentContext context = AlignmentContextUtils.joinContexts(stratifiedContexts.values()); final AlignmentContext context = AlignmentContextUtils.joinContexts(stratifiedContexts.values());
@ -85,14 +102,7 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot
final AlignmentContext thisContext = stratifiedContexts.get(genotype.getSampleName()); final AlignmentContext thisContext = stratifiedContexts.get(genotype.getSampleName());
if (thisContext != null) { if (thisContext != null) {
final ReadBackedPileup thisPileup = thisContext.getBasePileup(); final ReadBackedPileup thisPileup = thisContext.getBasePileup();
if (vc.isSNP()) scoreRA.add(scoreReadsAgainstHaplotypes(haplotypes, thisPileup, contextSize, locus)); // Taking the simple average of all sample's score since the score can be negative and the RMS doesn't make sense
scoreRA.add(scoreReadsAgainstHaplotypes(haplotypes, thisPileup, contextSize, locus)); // Taking the simple average of all sample's score since the score can be negative and the RMS doesn't make sense
else if (vc.isIndel() || vc.isMixed()) {
Double d = scoreIndelsAgainstHaplotypes(thisPileup);
if (d == null)
return null;
scoreRA.add(d); // Taking the simple average of all sample's score since the score can be negative and the RMS doesn't make sense
}
} }
} }
} }
@ -103,7 +113,32 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot
return map; return map;
} }
private static class HaplotypeComparator implements Comparator<Haplotype> { private Map<String, Object> annotateWithLikelihoods(final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap,
final VariantContext vc) {
final MathUtils.RunningAverage scoreRA = new MathUtils.RunningAverage();
for (final Genotype genotype : vc.getGenotypes()) {
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = stratifiedPerReadAlleleLikelihoodMap.get(genotype.getSampleName());
if (perReadAlleleLikelihoodMap == null)
continue;
Double d = scoreIndelsAgainstHaplotypes(perReadAlleleLikelihoodMap);
if (d == null)
continue;
scoreRA.add(d); // Taking the simple average of all sample's score since the score can be negative and the RMS doesn't make sense
}
// if (scoreRA.observationCount() == 0)
// return null;
// annotate the score in the info field
final Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%.4f", scoreRA.mean()));
return map;
}
private static class HaplotypeComparator implements Comparator<Haplotype>, Serializable {
public int compare(Haplotype a, Haplotype b) { public int compare(Haplotype a, Haplotype b) {
if (a.getQualitySum() < b.getQualitySum()) if (a.getQualitySum() < b.getQualitySum())
@ -177,7 +212,6 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot
private Haplotype getHaplotypeFromRead(final PileupElement p, final int contextSize, final int locus) { private Haplotype getHaplotypeFromRead(final PileupElement p, final int contextSize, final int locus) {
final GATKSAMRecord read = p.getRead(); final GATKSAMRecord read = p.getRead();
int readOffsetFromPileup = p.getOffset();
final byte[] haplotypeBases = new byte[contextSize]; final byte[] haplotypeBases = new byte[contextSize];
Arrays.fill(haplotypeBases, (byte) REGEXP_WILDCARD); Arrays.fill(haplotypeBases, (byte) REGEXP_WILDCARD);
@ -189,7 +223,7 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot
byte[] readQuals = read.getBaseQualities(); byte[] readQuals = read.getBaseQualities();
readQuals = AlignmentUtils.readToAlignmentByteArray(read.getCigar(), readQuals); // Shift the location of the qual scores based on the Cigar string readQuals = AlignmentUtils.readToAlignmentByteArray(read.getCigar(), readQuals); // Shift the location of the qual scores based on the Cigar string
readOffsetFromPileup = AlignmentUtils.calcAlignmentByteArrayOffset(read.getCigar(), p, read.getAlignmentStart(), locus); final int readOffsetFromPileup = AlignmentUtils.calcAlignmentByteArrayOffset(read.getCigar(), p, read.getAlignmentStart(), locus);
final int baseOffsetStart = readOffsetFromPileup - (contextSize - 1) / 2; final int baseOffsetStart = readOffsetFromPileup - (contextSize - 1) / 2;
for (int i = 0; i < contextSize; i++) { for (int i = 0; i < contextSize; i++) {
@ -346,31 +380,26 @@ public class HaplotypeScore extends InfoFieldAnnotation implements StandardAnnot
} }
private Double scoreIndelsAgainstHaplotypes(final ReadBackedPileup pileup) { private Double scoreIndelsAgainstHaplotypes(final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap) {
final ArrayList<double[]> haplotypeScores = new ArrayList<double[]>(); final ArrayList<double[]> haplotypeScores = new ArrayList<double[]>();
final HashMap<PileupElement, LinkedHashMap<Allele, Double>> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap(); if (perReadAlleleLikelihoodMap.isEmpty())
if (indelLikelihoodMap == null)
return null; return null;
for (final PileupElement p : pileup) { for (Map<Allele,Double> el : perReadAlleleLikelihoodMap.getLikelihoodMapValues()) {
if (indelLikelihoodMap.containsKey(p)) {
// retrieve likelihood information corresponding to this read
LinkedHashMap<Allele, Double> el = indelLikelihoodMap.get(p);
// Score all the reads in the pileup, even the filtered ones // retrieve likelihood information corresponding to this read
final double[] scores = new double[el.size()]; // Score all the reads in the pileup, even the filtered ones
int i = 0; final double[] scores = new double[el.size()];
for (Map.Entry<Allele, Double> a : el.entrySet()) { int i = 0;
scores[i++] = -a.getValue(); for (Map.Entry<Allele, Double> a : el.entrySet()) {
if (DEBUG) { scores[i++] = -a.getValue();
System.out.printf(" vs. haplotype %d = %f%n", i - 1, scores[i - 1]); if (DEBUG) {
} System.out.printf(" vs. haplotype %d = %f%n", i - 1, scores[i - 1]);
} }
haplotypeScores.add(scores);
} }
haplotypeScores.add(scores);
} }
// indel likelihoods are strict log-probs, not phred scored // indel likelihoods are strict log-probs, not phred scored

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HardyWeinberg.java
View File

@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.WorkInProgressAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.WorkInProgressAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.QualityUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -29,7 +30,12 @@ public class HardyWeinberg extends InfoFieldAnnotation implements WorkInProgress
private static final int MIN_GENOTYPE_QUALITY = 10; private static final int MIN_GENOTYPE_QUALITY = 10;
private static final int MIN_LOG10_PERROR = MIN_GENOTYPE_QUALITY / 10; private static final int MIN_LOG10_PERROR = MIN_GENOTYPE_QUALITY / 10;
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
final GenotypesContext genotypes = vc.getGenotypes(); final GenotypesContext genotypes = vc.getGenotypes();
if ( genotypes == null || genotypes.size() < MIN_SAMPLES ) if ( genotypes == null || genotypes.size() < MIN_SAMPLES )

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/HomopolymerRun.java
View File

@ -5,6 +5,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLoc;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -22,7 +23,12 @@ public class HomopolymerRun extends InfoFieldAnnotation {
private boolean ANNOTATE_INDELS = true; private boolean ANNOTATE_INDELS = true;
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( !vc.isBiallelic() ) if ( !vc.isBiallelic() )
return null; return null;

14
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/InbreedingCoeff.java
View File

@ -8,6 +8,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -33,17 +34,18 @@ public class InbreedingCoeff extends InfoFieldAnnotation implements StandardAnno
private static final int MIN_SAMPLES = 10; private static final int MIN_SAMPLES = 10;
private Set<String> founderIds; private Set<String> founderIds;
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap ) {
//If available, get the founder IDs and cache them. the IC will only be computed on founders then. //If available, get the founder IDs and cache them. the IC will only be computed on founders then.
if(founderIds == null) if(founderIds == null && walker != null)
founderIds = ((Walker)walker).getSampleDB().getFounderIds(); founderIds = ((Walker)walker).getSampleDB().getFounderIds();
return calculateIC(vc); return calculateIC(vc);
} }
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) {
return calculateIC(vc);
}
private Map<String, Object> calculateIC(final VariantContext vc) { private Map<String, Object> calculateIC(final VariantContext vc) {
final GenotypesContext genotypes = (founderIds == null || founderIds.isEmpty()) ? vc.getGenotypes() : vc.getGenotypes(founderIds); final GenotypesContext genotypes = (founderIds == null || founderIds.isEmpty()) ? vc.getGenotypes() : vc.getGenotypes(founderIds);
if ( genotypes == null || genotypes.size() < MIN_SAMPLES ) if ( genotypes == null || genotypes.size() < MIN_SAMPLES )

10
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/IndelType.java
View File

@ -6,6 +6,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.IndelUtils; import org.broadinstitute.sting.utils.IndelUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -18,9 +19,14 @@ import java.util.*;
*/ */
public class IndelType extends InfoFieldAnnotation implements ExperimentalAnnotation { public class IndelType extends InfoFieldAnnotation implements ExperimentalAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
int run; int run;
if (vc.isMixed()) { if (vc.isMixed()) {
Map<String, Object> map = new HashMap<String, Object>(); Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%s", "MIXED")); map.put(getKeyNames().get(0), String.format("%s", "MIXED"));

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/LowMQ.java
View File

@ -5,6 +5,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
@ -21,7 +22,12 @@ import java.util.Map;
*/ */
public class LowMQ extends InfoFieldAnnotation { public class LowMQ extends InfoFieldAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;

71
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MVLikelihoodRatio.java
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@ -10,6 +10,8 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation;
import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MendelianViolation; import org.broadinstitute.sting.utils.MendelianViolation;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -28,27 +30,45 @@ import java.util.*;
public class MVLikelihoodRatio extends InfoFieldAnnotation implements ExperimentalAnnotation, RodRequiringAnnotation { public class MVLikelihoodRatio extends InfoFieldAnnotation implements ExperimentalAnnotation, RodRequiringAnnotation {
private MendelianViolation mendelianViolation = null; private MendelianViolation mendelianViolation = null;
private String motherId; private Set<Trio> trios;
private String fatherId; private class Trio {
private String childId; String motherId;
String fatherId;
String childId;
}
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( mendelianViolation == null ) { if ( mendelianViolation == null ) {
if (checkAndSetSamples(((Walker) walker).getSampleDB())) { if (checkAndSetSamples(((Walker) walker).getSampleDB())) {
mendelianViolation = new MendelianViolation(((VariantAnnotator)walker).minGenotypeQualityP ); mendelianViolation = new MendelianViolation(((VariantAnnotator)walker).minGenotypeQualityP );
} }
else { else {
throw new UserException("Mendelian violation annotation can only be used from the Variant Annotator, and must be provided a valid PED file (-ped) from the command line containing only 1 trio."); throw new UserException("Mendelian violation annotation can only be used from the Variant Annotator, and must be provided a valid PED file (-ped) from the command line.");
} }
} }
Map<String,Object> toRet = new HashMap<String,Object>(1); Map<String,Object> toRet = new HashMap<String,Object>(1);
boolean hasAppropriateGenotypes = vc.hasGenotype(motherId) && vc.getGenotype(motherId).hasLikelihoods() && //double pNoMV = 1.0;
vc.hasGenotype(fatherId) && vc.getGenotype(fatherId).hasLikelihoods() && double maxMVLR = Double.MIN_VALUE;
vc.hasGenotype(childId) && vc.getGenotype(childId).hasLikelihoods(); for ( Trio trio : trios ) {
if ( hasAppropriateGenotypes ) boolean hasAppropriateGenotypes = vc.hasGenotype(trio.motherId) && vc.getGenotype(trio.motherId).hasLikelihoods() &&
toRet.put("MVLR",mendelianViolation.violationLikelihoodRatio(vc,motherId,fatherId,childId)); vc.hasGenotype(trio.fatherId) && vc.getGenotype(trio.fatherId).hasLikelihoods() &&
vc.hasGenotype(trio.childId) && vc.getGenotype(trio.childId).hasLikelihoods();
if ( hasAppropriateGenotypes ) {
Double likR = mendelianViolation.violationLikelihoodRatio(vc,trio.motherId,trio.fatherId,trio.childId);
maxMVLR = likR > maxMVLR ? likR : maxMVLR;
//pNoMV *= (1.0-Math.pow(10.0,likR)/(1+Math.pow(10.0,likR)));
}
}
//double pSomeMV = 1.0-pNoMV;
//toRet.put("MVLR",Math.log10(pSomeMV)-Math.log10(1.0-pSomeMV));
toRet.put("MVLR",maxMVLR);
return toRet; return toRet;
} }
@ -58,25 +78,24 @@ public class MVLikelihoodRatio extends InfoFieldAnnotation implements Experiment
public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("MVLR", 1, VCFHeaderLineType.Float, "Mendelian violation likelihood ratio: L[MV] - L[No MV]")); } public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("MVLR", 1, VCFHeaderLineType.Float, "Mendelian violation likelihood ratio: L[MV] - L[No MV]")); }
private boolean checkAndSetSamples(SampleDB db){ private boolean checkAndSetSamples(SampleDB db){
trios = new HashSet<Trio>();
Set<String> families = db.getFamilyIDs(); Set<String> families = db.getFamilyIDs();
if(families.size() != 1) for ( String familyString : families ) {
return false; Set<Sample> family = db.getFamily(familyString);
Iterator<Sample> sampleIterator = family.iterator();
Set<Sample> family = db.getFamily(families.iterator().next()); Sample sample;
if(family.size() != 3) for ( sample = sampleIterator.next(); sampleIterator.hasNext(); sample=sampleIterator.next()) {
return false; if ( sample.getParents().size() == 2 ) {
Trio trio = new Trio();
Iterator<Sample> sampleIter = family.iterator(); trio.childId = sample.getID();
Sample sample; trio.fatherId = sample.getFather().getID();
for(sample = sampleIter.next();sampleIter.hasNext();sample=sampleIter.next()){ trio.motherId = sample.getMother().getID();
if(sample.getParents().size()==2){ trios.add(trio);
motherId = sample.getMaternalID(); }
fatherId = sample.getPaternalID();
childId = sample.getID();
return true;
} }
} }
return false;
return trios.size() > 0;
} }
} }

80
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityRankSumTest.java
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@ -2,11 +2,13 @@ package org.broadinstitute.sting.gatk.walkers.annotator;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.QualityUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; 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.sam.GATKSAMRecord;
import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Allele;
@ -23,60 +25,36 @@ public class MappingQualityRankSumTest extends RankSumTest implements StandardAn
public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("MQRankSum", 1, VCFHeaderLineType.Float, "Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities")); } public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine("MQRankSum", 1, VCFHeaderLineType.Float, "Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities")); }
protected void fillQualsFromPileup(byte ref, List<Byte> alts, ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) { protected void fillQualsFromPileup(final List<Allele> allAlleles,
for ( final PileupElement p : pileup ) { final int refLoc,
if ( isUsableBase(p) ) { final ReadBackedPileup pileup,
if ( p.getBase() == ref ) { final PerReadAlleleLikelihoodMap likelihoodMap,
refQuals.add((double)p.getMappingQual()); final List<Double> refQuals, final List<Double> altQuals) {
} else if ( alts.contains(p.getBase()) ) {
altQuals.add((double)p.getMappingQual());
}
}
}
}
protected void fillQualsFromPileup(final Allele ref, final List<Allele> alts, final int refLoc, final Map<Allele, List<GATKSAMRecord>> stratifiedContext, final List<Double> refQuals, final List<Double> altQuals) { if (pileup != null && likelihoodMap == null) {
for ( final Map.Entry<Allele, List<GATKSAMRecord>> alleleBin : stratifiedContext.entrySet() ) { // no per-read likelihoods available:
final boolean matchesRef = ref.equals(alleleBin.getKey()); for ( final PileupElement p : pileup ) {
final boolean matchesAlt = alts.contains(alleleBin.getKey()); if ( isUsableBase(p) ) {
if ( !matchesRef && !matchesAlt ) if ( allAlleles.get(0).equals(Allele.create(p.getBase(), true)) ) {
continue; refQuals.add((double)p.getMappingQual());
} else if ( allAlleles.contains(Allele.create(p.getBase()))) {
for ( final GATKSAMRecord read : alleleBin.getValue() ) { altQuals.add((double)p.getMappingQual());
if ( matchesRef )
refQuals.add((double)read.getMappingQuality());
else
altQuals.add((double)read.getMappingQuality());
}
}
}
protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) {
// equivalent is whether indel likelihoods for reads corresponding to ref allele are more likely than reads corresponding to alt allele ?
HashMap<PileupElement,LinkedHashMap<Allele,Double>> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap();
for (final PileupElement p: pileup) {
if (indelLikelihoodMap.containsKey(p) && p.getMappingQual() != 0 && p.getMappingQual() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE) {
// retrieve likelihood information corresponding to this read
LinkedHashMap<Allele,Double> el = indelLikelihoodMap.get(p);
// by design, first element in LinkedHashMap was ref allele
double refLikelihood=0.0, altLikelihood=Double.NEGATIVE_INFINITY;
for (Map.Entry<Allele,Double> a : el.entrySet()) {
if (a.getKey().isReference())
refLikelihood = a.getValue();
else {
double like = a.getValue();
if (like >= altLikelihood)
altLikelihood = like;
} }
} }
if (refLikelihood > altLikelihood + INDEL_LIKELIHOOD_THRESH)
refQuals.add((double)p.getMappingQual());
else if (altLikelihood > refLikelihood + INDEL_LIKELIHOOD_THRESH)
altQuals.add((double)p.getMappingQual());
} }
return;
}
for (Map.Entry<GATKSAMRecord,Map<Allele,Double>> el : likelihoodMap.getLikelihoodReadMap().entrySet()) {
final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue());
if (a.isNoCall())
continue; // read is non-informative
if (a.isReference())
refQuals.add((double)el.getKey().getMappingQuality());
else if (allAlleles.contains(a))
altQuals.add((double)el.getKey().getMappingQuality());
} }
} }
} }

43
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZero.java
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@ -3,14 +3,18 @@ package org.broadinstitute.sting.gatk.walkers.annotator;
import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBasedAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines; import org.broadinstitute.sting.utils.codecs.vcf.VCFStandardHeaderLines;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; 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 org.broadinstitute.sting.utils.variantcontext.VariantContext;
import java.util.Arrays; import java.util.Arrays;
@ -22,9 +26,25 @@ import java.util.Map;
/** /**
* Total count across all samples of mapping quality zero reads * Total count across all samples of mapping quality zero reads
*/ */
public class MappingQualityZero extends InfoFieldAnnotation implements StandardAnnotation { public class MappingQualityZero extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ((vc.isSNP() || !vc.isVariant()) && stratifiedContexts != null)
return annotatePileup(ref, stratifiedContexts, vc);
else if (stratifiedPerReadAlleleLikelihoodMap != null && vc.isVariant())
return annotateWithLikelihoods(stratifiedPerReadAlleleLikelihoodMap, vc);
else
return null;
}
private Map<String, Object> annotatePileup(final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;
@ -42,6 +62,25 @@ public class MappingQualityZero extends InfoFieldAnnotation implements StandardA
return map; return map;
} }
private Map<String, Object> annotateWithLikelihoods(final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap,
final VariantContext vc) {
if (stratifiedPerReadAlleleLikelihoodMap == null)
return null;
int mq0 = 0;
for ( PerReadAlleleLikelihoodMap likelihoodMap : stratifiedPerReadAlleleLikelihoodMap.values() ) {
for (GATKSAMRecord read : likelihoodMap.getLikelihoodReadMap().keySet()) {
if (read.getMappingQuality() == 0 )
mq0++;
}
}
Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%d", mq0));
return map;
}
public List<String> getKeyNames() { return Arrays.asList(VCFConstants.MAPPING_QUALITY_ZERO_KEY); } public List<String> getKeyNames() { return Arrays.asList(VCFConstants.MAPPING_QUALITY_ZERO_KEY); }
public List<VCFInfoHeaderLine> getDescriptions() { public List<VCFInfoHeaderLine> getDescriptions() {

14
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroBySample.java
View File

@ -30,6 +30,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.GenotypeAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
@ -46,14 +47,19 @@ import java.util.List;
* Count for each sample of mapping quality zero reads * Count for each sample of mapping quality zero reads
*/ */
public class MappingQualityZeroBySample extends GenotypeAnnotation { public class MappingQualityZeroBySample extends GenotypeAnnotation {
public void annotate(RefMetaDataTracker tracker, public void annotate(final RefMetaDataTracker tracker,
AnnotatorCompatible walker, ReferenceContext ref, AlignmentContext context, final AnnotatorCompatible walker,
VariantContext vc, Genotype g, GenotypeBuilder gb) { final ReferenceContext ref,
final AlignmentContext stratifiedContext,
final VariantContext vc,
final Genotype g,
final GenotypeBuilder gb,
final PerReadAlleleLikelihoodMap alleleLikelihoodMap){
if ( g == null || !g.isCalled() ) if ( g == null || !g.isCalled() )
return; return;
int mq0 = 0; int mq0 = 0;
final ReadBackedPileup pileup = context.getBasePileup(); final ReadBackedPileup pileup = stratifiedContext.getBasePileup();
for (PileupElement p : pileup ) { for (PileupElement p : pileup ) {
if ( p.getMappingQual() == 0 ) if ( p.getMappingQual() == 0 )
mq0++; mq0++;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/MappingQualityZeroFraction.java
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@ -6,6 +6,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
@ -22,7 +23,12 @@ import java.util.Map;
*/ */
public class MappingQualityZeroFraction extends InfoFieldAnnotation implements ExperimentalAnnotation { public class MappingQualityZeroFraction extends InfoFieldAnnotation implements ExperimentalAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/NBaseCount.java
View File

@ -5,6 +5,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.BaseUtils; import org.broadinstitute.sting.utils.BaseUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -20,7 +21,12 @@ import java.util.Map;
* The number of N bases, counting only SOLiD data * The number of N bases, counting only SOLiD data
*/ */
public class NBaseCount extends InfoFieldAnnotation { public class NBaseCount extends InfoFieldAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if( stratifiedContexts.size() == 0 ) if( stratifiedContexts.size() == 0 )
return null; return null;

61
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/QualByDepth.java
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@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
@ -28,8 +29,13 @@ import java.util.Map;
*/ */
public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
if ( !vc.hasLog10PError() || stratifiedContexts.size() == 0 ) final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap ) {
if ( !vc.hasLog10PError() )
return null; return null;
final GenotypesContext genotypes = vc.getGenotypes(); final GenotypesContext genotypes = vc.getGenotypes();
@ -44,11 +50,20 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati
if ( !genotype.isHet() && !genotype.isHomVar() ) if ( !genotype.isHet() && !genotype.isHomVar() )
continue; continue;
AlignmentContext context = stratifiedContexts.get(genotype.getSampleName()); if (stratifiedContexts!= null) {
if ( context == null ) AlignmentContext context = stratifiedContexts.get(genotype.getSampleName());
continue; if ( context == null )
continue;
depth += context.getBasePileup().depthOfCoverage();
depth += context.getBasePileup().depthOfCoverage(); }
else if (perReadAlleleLikelihoodMap != null) {
PerReadAlleleLikelihoodMap perReadAlleleLikelihoods = perReadAlleleLikelihoodMap.get(genotype.getSampleName());
if (perReadAlleleLikelihoods == null || perReadAlleleLikelihoods.isEmpty())
continue;
depth += perReadAlleleLikelihoods.getNumberOfStoredElements();
}
} }
if ( depth == 0 ) if ( depth == 0 )
@ -67,39 +82,5 @@ public class QualByDepth extends InfoFieldAnnotation implements StandardAnnotati
return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "Variant Confidence/Quality by Depth")); return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Float, "Variant Confidence/Quality by Depth"));
} }
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> 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<Allele, List<GATKSAMRecord>> alleleBins = stratifiedContexts.get(genotype.getSampleName());
if ( alleleBins == null )
continue;
for ( final Map.Entry<Allele, List<GATKSAMRecord>> alleleBin : alleleBins.entrySet() ) {
depth += alleleBin.getValue().size();
}
}
if ( depth == 0 )
return null;
double QD = -10.0 * vc.getLog10PError() / (double)depth;
Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%.2f", QD));
return map;
}
} }

87
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RMSMappingQuality.java
View File

@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.QualityUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants; import org.broadinstitute.sting.utils.codecs.vcf.VCFConstants;
@ -18,10 +19,7 @@ import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Allele;
import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext;
import java.util.Arrays; import java.util.*;
import java.util.HashMap;
import java.util.List;
import java.util.Map;
/** /**
@ -29,25 +27,48 @@ import java.util.Map;
*/ */
public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation { public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAnnotation, ActiveRegionBasedAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
if ( stratifiedContexts.size() == 0 ) final AnnotatorCompatible walker,
return null; final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap ) {
int totalSize = 0, index = 0;
int qualities[];
if (stratifiedContexts != null) {
if ( stratifiedContexts.size() == 0 )
return null;
int totalSize = 0; for ( AlignmentContext context : stratifiedContexts.values() )
for ( AlignmentContext context : stratifiedContexts.values() ) totalSize += context.size();
totalSize += context.size();
final int[] qualities = new int[totalSize]; qualities = new int[totalSize];
int index = 0;
for ( Map.Entry<String, AlignmentContext> sample : stratifiedContexts.entrySet() ) { for ( Map.Entry<String, AlignmentContext> sample : stratifiedContexts.entrySet() ) {
AlignmentContext context = sample.getValue(); AlignmentContext context = sample.getValue();
final ReadBackedPileup pileup = context.getBasePileup(); for (PileupElement p : context.getBasePileup() )
for (PileupElement p : pileup ) { index = fillMappingQualitiesFromPileupAndUpdateIndex(p.getRead(), index, qualities);
if ( p.getMappingQual() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE )
qualities[index++] = p.getMappingQual();
} }
} }
else if (perReadAlleleLikelihoodMap != null) {
if ( perReadAlleleLikelihoodMap.size() == 0 )
return null;
for ( PerReadAlleleLikelihoodMap perReadLikelihoods : perReadAlleleLikelihoodMap.values() )
totalSize += perReadLikelihoods.size();
qualities = new int[totalSize];
for ( PerReadAlleleLikelihoodMap perReadLikelihoods : perReadAlleleLikelihoodMap.values() ) {
for (GATKSAMRecord read : perReadLikelihoods.getStoredElements())
index = fillMappingQualitiesFromPileupAndUpdateIndex(read, index, qualities);
}
}
else
return null;
double rms = MathUtils.rms(qualities); double rms = MathUtils.rms(qualities);
Map<String, Object> map = new HashMap<String, Object>(); Map<String, Object> map = new HashMap<String, Object>();
@ -55,32 +76,12 @@ public class RMSMappingQuality extends InfoFieldAnnotation implements StandardAn
return map; return map;
} }
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) { private static int fillMappingQualitiesFromPileupAndUpdateIndex(final GATKSAMRecord read, final int inputIdx, final int[] qualities) {
if ( stratifiedContexts.size() == 0 ) int outputIdx = inputIdx;
return null; if ( read.getMappingQuality() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE )
qualities[outputIdx++] = read.getMappingQuality();
int depth = 0; return outputIdx;
for ( final Map<Allele, List<GATKSAMRecord>> alleleBins : stratifiedContexts.values() ) {
for ( final Map.Entry<Allele, List<GATKSAMRecord>> alleleBin : alleleBins.entrySet() ) {
depth += alleleBin.getValue().size();
}
}
final int[] qualities = new int[depth];
int index = 0;
for ( final Map<Allele, List<GATKSAMRecord>> alleleBins : stratifiedContexts.values() ) {
for ( final List<GATKSAMRecord> reads : alleleBins.values() ) {
for ( final GATKSAMRecord read : reads ) {
if ( read.getMappingQuality() != QualityUtils.MAPPING_QUALITY_UNAVAILABLE )
qualities[index++] = read.getMappingQuality();
}
}
}
final Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), String.format("%.2f", MathUtils.rms(qualities)));
return map;
} }
public List<String> getKeyNames() { return Arrays.asList(VCFConstants.RMS_MAPPING_QUALITY_KEY); } public List<String> getKeyNames() { return Arrays.asList(VCFConstants.RMS_MAPPING_QUALITY_KEY); }

105
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/RankSumTest.java
View File

@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ActiveRegionBa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MannWhitneyU; import org.broadinstitute.sting.utils.MannWhitneyU;
import org.broadinstitute.sting.utils.QualityUtils; import org.broadinstitute.sting.utils.QualityUtils;
import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.collections.Pair;
@ -28,12 +29,15 @@ import java.util.Map;
* Abstract root for all RankSum based annotations * Abstract root for all RankSum based annotations
*/ */
public abstract class RankSumTest extends InfoFieldAnnotation implements ActiveRegionBasedAnnotation { public abstract class RankSumTest extends InfoFieldAnnotation implements ActiveRegionBasedAnnotation {
static final double INDEL_LIKELIHOOD_THRESH = 0.1;
static final boolean DEBUG = false; static final boolean DEBUG = false;
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
if (stratifiedContexts.size() == 0) final AnnotatorCompatible walker,
return null; final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
// either stratifiedContexts or stratifiedPerReadAlleleLikelihoodMap has to be non-null
final GenotypesContext genotypes = vc.getGenotypes(); final GenotypesContext genotypes = vc.getGenotypes();
if (genotypes == null || genotypes.size() == 0) if (genotypes == null || genotypes.size() == 0)
@ -42,37 +46,28 @@ public abstract class RankSumTest extends InfoFieldAnnotation implements ActiveR
final ArrayList<Double> refQuals = new ArrayList<Double>(); final ArrayList<Double> refQuals = new ArrayList<Double>();
final ArrayList<Double> altQuals = new ArrayList<Double>(); final ArrayList<Double> altQuals = new ArrayList<Double>();
if ( vc.isSNP() ) { for ( final Genotype genotype : genotypes.iterateInSampleNameOrder() ) {
final List<Byte> altAlleles = new ArrayList<Byte>(); PerReadAlleleLikelihoodMap indelLikelihoodMap = null;
for ( final Allele a : vc.getAlternateAlleles() ) ReadBackedPileup pileup = null;
altAlleles.add(a.getBases()[0]);
for ( final Genotype genotype : genotypes.iterateInSampleNameOrder() ) {
if (stratifiedContexts != null) {
final AlignmentContext context = stratifiedContexts.get(genotype.getSampleName()); final AlignmentContext context = stratifiedContexts.get(genotype.getSampleName());
if ( context == null ) if ( context != null )
continue; pileup = context.getBasePileup();
fillQualsFromPileup(ref.getBase(), altAlleles, context.getBasePileup(), refQuals, altQuals);
} }
} else if ( vc.isIndel() || vc.isMixed() ) { if (stratifiedPerReadAlleleLikelihoodMap != null )
indelLikelihoodMap = stratifiedPerReadAlleleLikelihoodMap.get(genotype.getSampleName());
for (final Genotype genotype : genotypes.iterateInSampleNameOrder()) { if (indelLikelihoodMap != null && indelLikelihoodMap.isEmpty())
final AlignmentContext context = stratifiedContexts.get(genotype.getSampleName()); indelLikelihoodMap = null;
if (context == null) { // treat an empty likelihood map as a null reference - will simplify contract with fillQualsFromPileup
continue; if (indelLikelihoodMap == null && pileup == null)
} continue;
final ReadBackedPileup pileup = context.getBasePileup(); fillQualsFromPileup(vc.getAlleles(), vc.getStart(), pileup, indelLikelihoodMap, refQuals, altQuals );
if (pileup == null) }
continue; if (refQuals.isEmpty() && altQuals.isEmpty())
if (IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap() == null ||
IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap().size() == 0)
return null;
fillIndelQualsFromPileup(pileup, refQuals, altQuals);
}
} else
return null; return null;
final MannWhitneyU mannWhitneyU = new MannWhitneyU(); final MannWhitneyU mannWhitneyU = new MannWhitneyU();
@ -103,50 +98,12 @@ public abstract class RankSumTest extends InfoFieldAnnotation implements ActiveR
return map; return map;
} }
public Map<String, Object> annotate(Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) { protected abstract void fillQualsFromPileup(final List<Allele> alleles,
if (stratifiedContexts.size() == 0) final int refLoc,
return null; final ReadBackedPileup readBackedPileup,
final PerReadAlleleLikelihoodMap alleleLikelihoodMap,
final GenotypesContext genotypes = vc.getGenotypes(); final List<Double> refQuals,
if (genotypes == null || genotypes.size() == 0) final List<Double> altQuals);
return null;
final ArrayList<Double> refQuals = new ArrayList<Double>();
final ArrayList<Double> altQuals = new ArrayList<Double>();
for ( final Genotype genotype : genotypes.iterateInSampleNameOrder() ) {
final Map<Allele, List<GATKSAMRecord>> context = stratifiedContexts.get(genotype.getSampleName());
if ( context == null )
continue;
fillQualsFromPileup(vc.getReference(), vc.getAlternateAlleles(), vc.getStart(), 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<Double, Double> testResults = mannWhitneyU.runOneSidedTest(MannWhitneyU.USet.SET1);
final Map<String, Object> map = new HashMap<String, Object>();
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<Allele> alts, final int refLoc, final Map<Allele, List<GATKSAMRecord>> stratifiedContext, final List<Double> refQuals, List<Double> altQuals);
protected abstract void fillQualsFromPileup(final byte ref, final List<Byte> alts, final ReadBackedPileup pileup, final List<Double> refQuals, final List<Double> altQuals);
protected abstract void fillIndelQualsFromPileup(final ReadBackedPileup pileup, final List<Double> refQuals, final List<Double> altQuals);
/** /**
* Can the base in this pileup element be used in comparative tests between ref / alt bases? * Can the base in this pileup element be used in comparative tests between ref / alt bases?

134
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/ReadPosRankSumTest.java
View File

@ -5,7 +5,7 @@ import net.sf.samtools.CigarElement;
import net.sf.samtools.CigarOperator; import net.sf.samtools.CigarOperator;
import net.sf.samtools.SAMRecord; import net.sf.samtools.SAMRecord;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel; import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.gatk.walkers.indels.PairHMMIndelErrorModel; import org.broadinstitute.sting.gatk.walkers.indels.PairHMMIndelErrorModel;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -32,98 +32,64 @@ public class ReadPosRankSumTest extends RankSumTest implements StandardAnnotatio
return Arrays.asList(new VCFInfoHeaderLine("ReadPosRankSum", 1, VCFHeaderLineType.Float, "Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias")); return Arrays.asList(new VCFInfoHeaderLine("ReadPosRankSum", 1, VCFHeaderLineType.Float, "Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"));
} }
protected void fillQualsFromPileup(byte ref, List<Byte> alts, ReadBackedPileup pileup, List<Double> refQuals, List<Double> altQuals) { protected void fillQualsFromPileup(final List<Allele> allAlleles,
for (final PileupElement p : pileup) { final int refLoc,
if (isUsableBase(p)) { final ReadBackedPileup pileup,
int readPos = AlignmentUtils.calcAlignmentByteArrayOffset(p.getRead().getCigar(), p, 0, 0); final PerReadAlleleLikelihoodMap alleleLikelihoodMap,
final int numAlignedBases = AlignmentUtils.getNumAlignedBases(p.getRead()); final List<Double> refQuals, final List<Double> altQuals) {
if (readPos > numAlignedBases / 2)
readPos = numAlignedBases - (readPos + 1);
if (alleleLikelihoodMap == null) {
// use fast SNP-based version if we don't have per-read allele likelihoods
for ( final PileupElement p : pileup ) {
if ( isUsableBase(p) ) {
int readPos = AlignmentUtils.calcAlignmentByteArrayOffset(p.getRead().getCigar(), p, 0, 0);
if ( p.getBase() == ref ) readPos = getFinalReadPosition(p.getRead(),readPos);
refQuals.add((double) readPos);
else if ( alts.contains(p.getBase()) )
altQuals.add((double) readPos);
}
}
}
protected void fillQualsFromPileup(final Allele ref, final List<Allele> alts, final int refLoc, final Map<Allele, List<GATKSAMRecord>> stratifiedContext, final List<Double> refQuals, final List<Double> altQuals) { if ( allAlleles.get(0).equals(Allele.create(p.getBase(), true)) ) {
for ( final Map.Entry<Allele, List<GATKSAMRecord>> alleleBin : stratifiedContext.entrySet() ) { refQuals.add((double)readPos);
final boolean matchesRef = ref.equals(alleleBin.getKey()); } else if ( allAlleles.contains(Allele.create(p.getBase()))) {
final boolean matchesAlt = alts.contains(alleleBin.getKey()); altQuals.add((double)readPos);
if ( !matchesRef && !matchesAlt )
continue;
for ( final GATKSAMRecord read : alleleBin.getValue() ) {
final int offset = ReadUtils.getReadCoordinateForReferenceCoordinate( read.getSoftStart(), read.getCigar(), refLoc, ReadUtils.ClippingTail.RIGHT_TAIL, true );
if ( offset == ReadUtils.CLIPPING_GOAL_NOT_REACHED )
continue;
int readPos = AlignmentUtils.calcAlignmentByteArrayOffset( read.getCigar(), offset, false, false, 0, 0 );
final int numAlignedBases = AlignmentUtils.getNumAlignedBasesCountingSoftClips( read );
if (readPos > numAlignedBases / 2)
readPos = numAlignedBases - (readPos + 1);
if ( matchesRef )
refQuals.add((double) readPos);
else
altQuals.add((double) readPos);
}
}
}
protected void fillIndelQualsFromPileup(ReadBackedPileup pileup, List<Double> refQuals, List<Double> 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.
// A pileup element then has a list of pairs of form (Allele, likelihood of this allele).
// To classify a pileup element as Ref or Alt, we look at the likelihood of corresponding alleles.
// If likelihood of ref allele > highest likelihood of all alt alleles + epsilon, then this pielup element is "ref"
// otherwise if highest alt allele likelihood is > ref likelihood + epsilon, then this pileup element it "alt"
final HashMap<PileupElement, LinkedHashMap<Allele, Double>> indelLikelihoodMap = IndelGenotypeLikelihoodsCalculationModel.getIndelLikelihoodMap();
for (final PileupElement p : pileup) {
if (indelLikelihoodMap.containsKey(p)) {
LinkedHashMap<Allele, Double> el = indelLikelihoodMap.get(p); // retrieve likelihood information corresponding to this read
double refLikelihood = 0.0, altLikelihood = Double.NEGATIVE_INFINITY; // by design, first element in LinkedHashMap was ref allele
for (Map.Entry<Allele,Double> a : el.entrySet()) {
if (a.getKey().isReference())
refLikelihood = a.getValue();
else {
double like = a.getValue();
if (like >= altLikelihood)
altLikelihood = like;
} }
} }
int readPos = getOffsetFromClippedReadStart(p.getRead(), p.getOffset());
final int numAlignedBases = getNumAlignedBases(p.getRead());
if (readPos > numAlignedBases / 2) {
readPos = numAlignedBases - (readPos + 1);
}
//if (DEBUG) System.out.format("R:%s start:%d C:%s offset:%d rp:%d readPos:%d alignedB:%d\n",p.getRead().getReadName(),p.getRead().getAlignmentStart(),p.getRead().getCigarString(),p.getOffset(), rp, readPos, numAlignedBases);
// if event is beyond span of read just return and don't consider this element. This can happen, for example, with reads
// where soft clipping still left strings of low quality bases but these are later removed by indel-specific clipping.
// if (readPos < -1)
// return;
if (refLikelihood > (altLikelihood + INDEL_LIKELIHOOD_THRESH)) {
refQuals.add((double) readPos);
//if (DEBUG) System.out.format("REF like: %4.1f, pos: %d\n",refLikelihood,readPos);
} else if (altLikelihood > (refLikelihood + INDEL_LIKELIHOOD_THRESH)) {
altQuals.add((double) readPos);
//if (DEBUG) System.out.format("ALT like: %4.1f, pos: %d\n",refLikelihood,readPos);
}
} }
return;
}
for (Map.Entry<GATKSAMRecord,Map<Allele,Double>> el : alleleLikelihoodMap.getLikelihoodReadMap().entrySet()) {
final GATKSAMRecord read = el.getKey();
final int offset = ReadUtils.getReadCoordinateForReferenceCoordinate( read.getSoftStart(), read.getCigar(), refLoc, ReadUtils.ClippingTail.RIGHT_TAIL, true );
if ( offset == ReadUtils.CLIPPING_GOAL_NOT_REACHED )
continue;
int readPos = AlignmentUtils.calcAlignmentByteArrayOffset( read.getCigar(), offset, false, false, 0, 0 );
final int numAlignedBases = AlignmentUtils.getNumAlignedBasesCountingSoftClips( read );
if (readPos > numAlignedBases / 2)
readPos = numAlignedBases - (readPos + 1);
// int readPos = getOffsetFromClippedReadStart(el.getKey(), el.getKey().getOffset());
// readPos = getFinalReadPosition(el.getKey().getRead(),readPos);
final Allele a = PerReadAlleleLikelihoodMap.getMostLikelyAllele(el.getValue());
if (a.isNoCall())
continue; // read is non-informative
if (a.isReference())
refQuals.add((double)readPos);
else if (allAlleles.contains(a))
altQuals.add((double)readPos);
} }
} }
int getFinalReadPosition(GATKSAMRecord read, int initialReadPosition) {
final int numAlignedBases = getNumAlignedBases(read);
int readPos = initialReadPosition;
if (initialReadPosition > numAlignedBases / 2) {
readPos = numAlignedBases - (initialReadPosition + 1);
}
return readPos;
}
int getNumClippedBasesAtStart(SAMRecord read) { int getNumClippedBasesAtStart(SAMRecord read) {
// compute total number of clipped bases (soft or hard clipped) // compute total number of clipped bases (soft or hard clipped)
// check for hard clips (never consider these bases): // check for hard clips (never consider these bases):

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SampleList.java
View File

@ -30,6 +30,7 @@ import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -46,7 +47,12 @@ import java.util.Map;
*/ */
public class SampleList extends InfoFieldAnnotation { public class SampleList extends InfoFieldAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( vc.isMonomorphicInSamples() || !vc.hasGenotypes() ) if ( vc.isMonomorphicInSamples() || !vc.hasGenotypes() )
return null; return null;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SnpEff.java
View File

@ -33,6 +33,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.Utils; import org.broadinstitute.sting.utils.Utils;
import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.codecs.vcf.*;
import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.exceptions.UserException;
@ -225,7 +226,12 @@ public class SnpEff extends InfoFieldAnnotation implements RodRequiringAnnotatio
headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_COMMAND_LINE_KEY, snpEffCommandLine.getValue())); headerLines.add(new VCFHeaderLine(OUTPUT_VCF_HEADER_COMMAND_LINE_KEY, snpEffCommandLine.getValue()));
} }
public Map<String, Object> annotate ( RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc ) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
RodBinding<VariantContext> snpEffRodBinding = walker.getSnpEffRodBinding(); RodBinding<VariantContext> snpEffRodBinding = walker.getSnpEffRodBinding();
// Get only SnpEff records that start at this locus, not merely span it: // Get only SnpEff records that start at this locus, not merely span it:

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/SpanningDeletions.java
View File

@ -6,6 +6,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.pileup.ReadBackedPileup; import org.broadinstitute.sting.utils.pileup.ReadBackedPileup;
@ -22,7 +23,12 @@ import java.util.Map;
*/ */
public class SpanningDeletions extends InfoFieldAnnotation implements StandardAnnotation { public class SpanningDeletions extends InfoFieldAnnotation implements StandardAnnotation {
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TandemRepeatAnnotator.java
View File

@ -30,6 +30,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
@ -47,7 +48,12 @@ public class TandemRepeatAnnotator extends InfoFieldAnnotation implements Standa
private static final String STR_PRESENT = "STR"; private static final String STR_PRESENT = "STR";
private static final String REPEAT_UNIT_KEY = "RU"; private static final String REPEAT_UNIT_KEY = "RU";
private static final String REPEATS_PER_ALLELE_KEY = "RPA"; private static final String REPEATS_PER_ALLELE_KEY = "RPA";
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( !vc.isIndel()) if ( !vc.isIndel())
return null; return null;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TechnologyComposition.java
View File

@ -7,6 +7,7 @@ import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompatible;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.pileup.PileupElement; import org.broadinstitute.sting.utils.pileup.PileupElement;
@ -28,7 +29,12 @@ public class TechnologyComposition extends InfoFieldAnnotation implements Experi
private String n454 ="Num454"; private String n454 ="Num454";
private String nSolid = "NumSOLiD"; private String nSolid = "NumSOLiD";
private String nOther = "NumOther"; private String nOther = "NumOther";
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( stratifiedContexts.size() == 0 ) if ( stratifiedContexts.size() == 0 )
return null; return null;

8
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/TransmissionDisequilibriumTest.java
View File

@ -8,6 +8,7 @@ import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.AnnotatorCompa
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.ExperimentalAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.RodRequiringAnnotation;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineCount;
import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType; import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLineType;
@ -28,7 +29,12 @@ public class TransmissionDisequilibriumTest extends InfoFieldAnnotation implemen
private Set<Sample> trios = null; private Set<Sample> trios = null;
private final static int MIN_NUM_VALID_TRIOS = 5; // don't calculate this population-level statistic if there are less than X trios with full genotype likelihood information private final static int MIN_NUM_VALID_TRIOS = 5; // don't calculate this population-level statistic if there are less than X trios with full genotype likelihood information
public Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( trios == null ) { if ( trios == null ) {
if ( walker instanceof VariantAnnotator ) { if ( walker instanceof VariantAnnotator ) {
trios = ((VariantAnnotator) walker).getSampleDB().getChildrenWithParents(); trios = ((VariantAnnotator) walker).getSampleDB().getChildrenWithParents();

45
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorEngine.java
View File

@ -31,6 +31,7 @@ import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.*; import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.*;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.*; import org.broadinstitute.sting.utils.codecs.vcf.*;
import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.exceptions.UserException;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
@ -178,7 +179,18 @@ public class VariantAnnotatorEngine {
this.requireStrictAlleleMatch = requireStrictAlleleMatch; this.requireStrictAlleleMatch = requireStrictAlleleMatch;
} }
public VariantContext annotateContext(final RefMetaDataTracker tracker, final ReferenceContext ref, final Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) { public VariantContext annotateContext(final RefMetaDataTracker tracker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
VariantContext vc) {
return annotateContext(tracker, ref, stratifiedContexts, vc, null);
}
public VariantContext annotateContext(final RefMetaDataTracker tracker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
VariantContext vc,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
Map<String, Object> infoAnnotations = new LinkedHashMap<String, Object>(vc.getAttributes()); Map<String, Object> infoAnnotations = new LinkedHashMap<String, Object>(vc.getAttributes());
// annotate db occurrences // annotate db occurrences
@ -189,7 +201,7 @@ public class VariantAnnotatorEngine {
// go through all the requested info annotationTypes // go through all the requested info annotationTypes
for ( InfoFieldAnnotation annotationType : requestedInfoAnnotations ) { for ( InfoFieldAnnotation annotationType : requestedInfoAnnotations ) {
Map<String, Object> annotationsFromCurrentType = annotationType.annotate(tracker, walker, ref, stratifiedContexts, vc); Map<String, Object> annotationsFromCurrentType = annotationType.annotate(tracker, walker, ref, stratifiedContexts, vc, perReadAlleleLikelihoodMap);
if ( annotationsFromCurrentType != null ) if ( annotationsFromCurrentType != null )
infoAnnotations.putAll(annotationsFromCurrentType); infoAnnotations.putAll(annotationsFromCurrentType);
} }
@ -198,22 +210,25 @@ public class VariantAnnotatorEngine {
VariantContextBuilder builder = new VariantContextBuilder(vc).attributes(infoAnnotations); VariantContextBuilder builder = new VariantContextBuilder(vc).attributes(infoAnnotations);
// annotate genotypes, creating another new VC in the process // annotate genotypes, creating another new VC in the process
return builder.genotypes(annotateGenotypes(tracker, ref, stratifiedContexts, vc)).make(); return builder.genotypes(annotateGenotypes(tracker, ref, stratifiedContexts, vc, perReadAlleleLikelihoodMap)).make();
} }
public VariantContext annotateContext(final Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, VariantContext vc) { public VariantContext annotateContext(final Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap, VariantContext vc) {
Map<String, Object> infoAnnotations = new LinkedHashMap<String, Object>(vc.getAttributes()); Map<String, Object> infoAnnotations = new LinkedHashMap<String, Object>(vc.getAttributes());
// go through all the requested info annotationTypes // go through all the requested info annotationTypes
for ( InfoFieldAnnotation annotationType : requestedInfoAnnotations ) { for ( InfoFieldAnnotation annotationType : requestedInfoAnnotations ) {
Map<String, Object> annotationsFromCurrentType = ((ActiveRegionBasedAnnotation)annotationType).annotate(stratifiedContexts, vc); Map<String, Object> annotationsFromCurrentType = ((ActiveRegionBasedAnnotation)annotationType).annotate(perReadAlleleLikelihoodMap, vc);
if ( annotationsFromCurrentType != null ) { if ( annotationsFromCurrentType != null ) {
infoAnnotations.putAll(annotationsFromCurrentType); infoAnnotations.putAll(annotationsFromCurrentType);
} }
} }
// generate a new annotated VC // generate a new annotated VC
return new VariantContextBuilder(vc).attributes(infoAnnotations).make(); VariantContextBuilder builder = new VariantContextBuilder(vc).attributes(infoAnnotations);
// annotate genotypes, creating another new VC in the process
return builder.genotypes(annotateGenotypes(null, null, null, vc, perReadAlleleLikelihoodMap)).make();
} }
private VariantContext annotateDBs(RefMetaDataTracker tracker, ReferenceContext ref, VariantContext vc, Map<String, Object> infoAnnotations) { private VariantContext annotateDBs(RefMetaDataTracker tracker, ReferenceContext ref, VariantContext vc, Map<String, Object> infoAnnotations) {
@ -266,20 +281,30 @@ public class VariantAnnotatorEngine {
} }
} }
private GenotypesContext annotateGenotypes(RefMetaDataTracker tracker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) {
private GenotypesContext annotateGenotypes(final RefMetaDataTracker tracker,
final ReferenceContext ref, final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String,PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap) {
if ( requestedGenotypeAnnotations.isEmpty() ) if ( requestedGenotypeAnnotations.isEmpty() )
return vc.getGenotypes(); return vc.getGenotypes();
final GenotypesContext genotypes = GenotypesContext.create(vc.getNSamples()); final GenotypesContext genotypes = GenotypesContext.create(vc.getNSamples());
for ( final Genotype genotype : vc.getGenotypes() ) { for ( final Genotype genotype : vc.getGenotypes() ) {
AlignmentContext context = stratifiedContexts.get(genotype.getSampleName()); AlignmentContext context = null;
PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap = null;
if (stratifiedContexts != null)
context = stratifiedContexts.get(genotype.getSampleName());
if (stratifiedPerReadAlleleLikelihoodMap != null)
perReadAlleleLikelihoodMap = stratifiedPerReadAlleleLikelihoodMap.get(genotype.getSampleName());
if ( context == null ) { if ( context == null && perReadAlleleLikelihoodMap == null) {
// no likelihoods nor pileup available: just move on to next sample
genotypes.add(genotype); genotypes.add(genotype);
} else { } else {
final GenotypeBuilder gb = new GenotypeBuilder(genotype); final GenotypeBuilder gb = new GenotypeBuilder(genotype);
for ( final GenotypeAnnotation annotation : requestedGenotypeAnnotations ) { for ( final GenotypeAnnotation annotation : requestedGenotypeAnnotations ) {
annotation.annotate(tracker, walker, ref, context, vc, genotype, gb); annotation.annotate(tracker, walker, ref, context, vc, genotype, gb, perReadAlleleLikelihoodMap);
} }
genotypes.add(gb.make()); genotypes.add(gb.make());
} }

5
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/ActiveRegionBasedAnnotation.java
View File

@ -1,5 +1,6 @@
package org.broadinstitute.sting.gatk.walkers.annotator.interfaces; package org.broadinstitute.sting.gatk.walkers.annotator.interfaces;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord; import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
import org.broadinstitute.sting.utils.variantcontext.Allele; import org.broadinstitute.sting.utils.variantcontext.Allele;
@ -10,8 +11,8 @@ import java.util.Map;
// TODO -- make this an abstract class when we move away from InfoFieldAnnotation // TODO -- make this an abstract class when we move away from InfoFieldAnnotation
public interface ActiveRegionBasedAnnotation extends AnnotationType { public interface ActiveRegionBasedAnnotation extends AnnotationType {
// return annotations for the given contexts split by sample and then allele // return annotations for the given contexts split by sample and then read likelihood
public abstract Map<String, Object> annotate(final Map<String, Map<Allele, List<GATKSAMRecord>>> stratifiedContexts, final VariantContext vc); public abstract Map<String, Object> annotate(final Map<String,PerReadAlleleLikelihoodMap> stratifiedContexts, final VariantContext vc);
// return the descriptions used for the VCF INFO meta field // return the descriptions used for the VCF INFO meta field
public abstract List<VCFInfoHeaderLine> getDescriptions(); public abstract List<VCFInfoHeaderLine> getDescriptions();

12
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/GenotypeAnnotation.java
View File

@ -3,6 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator.interfaces;
import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFFormatHeaderLine;
import org.broadinstitute.sting.utils.variantcontext.Genotype; import org.broadinstitute.sting.utils.variantcontext.Genotype;
import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder; import org.broadinstitute.sting.utils.variantcontext.GenotypeBuilder;
@ -13,9 +14,14 @@ import java.util.List;
public abstract class GenotypeAnnotation extends VariantAnnotatorAnnotation { public abstract class GenotypeAnnotation extends VariantAnnotatorAnnotation {
// return annotations for the given contexts/genotype split by sample // return annotations for the given contexts/genotype split by sample
public abstract void annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, public abstract void annotate(final RefMetaDataTracker tracker,
ReferenceContext ref, AlignmentContext stratifiedContext, final AnnotatorCompatible walker,
VariantContext vc, Genotype g, GenotypeBuilder gb ); final ReferenceContext ref,
final AlignmentContext stratifiedContext,
final VariantContext vc,
final Genotype g,
final GenotypeBuilder gb,
final PerReadAlleleLikelihoodMap alleleLikelihoodMap);
// return the descriptions used for the VCF FORMAT meta field // return the descriptions used for the VCF FORMAT meta field
public abstract List<VCFFormatHeaderLine> getDescriptions(); public abstract List<VCFFormatHeaderLine> getDescriptions();

22
public/java/src/org/broadinstitute/sting/gatk/walkers/annotator/interfaces/InfoFieldAnnotation.java
View File

@ -3,6 +3,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator.interfaces;
import org.broadinstitute.sting.gatk.contexts.AlignmentContext; import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker; import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine; import org.broadinstitute.sting.utils.codecs.vcf.VCFInfoHeaderLine;
import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext;
@ -11,8 +12,25 @@ import java.util.Map;
public abstract class InfoFieldAnnotation extends VariantAnnotatorAnnotation { public abstract class InfoFieldAnnotation extends VariantAnnotatorAnnotation {
// return annotations for the given contexts split by sample // return annotations for the given contexts split by sample
public abstract Map<String, Object> annotate(RefMetaDataTracker tracker, AnnotatorCompatible walker, public Map<String, Object> annotate(final RefMetaDataTracker tracker,
ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc); final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc) {
return annotate(tracker, walker, ref, stratifiedContexts, vc, null);
}
public Map<String, Object> annotate(Map<String, PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap, VariantContext vc) {
return annotate(null, null, null, null, vc, perReadAlleleLikelihoodMap);
}
public abstract Map<String, Object> annotate(final RefMetaDataTracker tracker,
final AnnotatorCompatible walker,
final ReferenceContext ref,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final Map<String, PerReadAlleleLikelihoodMap> stratifiedPerReadAlleleLikelihoodMap);
// return the descriptions used for the VCF INFO meta field // return the descriptions used for the VCF INFO meta field
public abstract List<VCFInfoHeaderLine> getDescriptions(); public abstract List<VCFInfoHeaderLine> getDescriptions();

2
public/java/src/org/broadinstitute/sting/gatk/walkers/bqsr/StandardRecalibrationEngine.java
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@ -42,7 +42,7 @@ public class StandardRecalibrationEngine implements RecalibrationEngine, PublicP
protected RecalibrationTables recalibrationTables; protected RecalibrationTables recalibrationTables;
public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables) { public void initialize(final Covariate[] covariates, final RecalibrationTables recalibrationTables) {
this.covariates = covariates; this.covariates = covariates.clone();
this.recalibrationTables = recalibrationTables; this.recalibrationTables = recalibrationTables;
} }

4
public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/GenotypeLikelihoodsCalculationModel.java
View File

@ -103,7 +103,8 @@ public abstract class GenotypeLikelihoodsCalculationModel implements Cloneable {
final AlignmentContextUtils.ReadOrientation contextType, final AlignmentContextUtils.ReadOrientation contextType,
final List<Allele> allAllelesToUse, final List<Allele> allAllelesToUse,
final boolean useBAQedPileup, final boolean useBAQedPileup,
final GenomeLocParser locParser); final GenomeLocParser locParser,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap);
protected int getFilteredDepth(ReadBackedPileup pileup) { protected int getFilteredDepth(ReadBackedPileup pileup) {
@ -115,4 +116,5 @@ public abstract class GenotypeLikelihoodsCalculationModel implements Cloneable {
return count; return count;
} }
} }

30
public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/IndelGenotypeLikelihoodsCalculationModel.java
View File

@ -48,24 +48,11 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood
private boolean ignoreSNPAllelesWhenGenotypingIndels = false; private boolean ignoreSNPAllelesWhenGenotypingIndels = false;
private PairHMMIndelErrorModel pairModel; private PairHMMIndelErrorModel pairModel;
private static ThreadLocal<HashMap<PileupElement, LinkedHashMap<Allele, Double>>> indelLikelihoodMap =
new ThreadLocal<HashMap<PileupElement, LinkedHashMap<Allele, Double>>>() {
protected synchronized HashMap<PileupElement, LinkedHashMap<Allele, Double>> initialValue() {
return new HashMap<PileupElement, LinkedHashMap<Allele, Double>>();
}
};
private LinkedHashMap<Allele, Haplotype> haplotypeMap; private LinkedHashMap<Allele, Haplotype> haplotypeMap;
// gdebug removeme
// todo -cleanup
private GenomeLoc lastSiteVisited;
private List<Allele> alleleList = new ArrayList<Allele>(); private List<Allele> alleleList = new ArrayList<Allele>();
static {
indelLikelihoodMap.set(new HashMap<PileupElement, LinkedHashMap<Allele, Double>>());
}
protected IndelGenotypeLikelihoodsCalculationModel(UnifiedArgumentCollection UAC, Logger logger) { protected IndelGenotypeLikelihoodsCalculationModel(UnifiedArgumentCollection UAC, Logger logger) {
super(UAC, logger); super(UAC, logger);
@ -93,16 +80,15 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood
final AlignmentContextUtils.ReadOrientation contextType, final AlignmentContextUtils.ReadOrientation contextType,
final List<Allele> allAllelesToUse, final List<Allele> allAllelesToUse,
final boolean useBAQedPileup, final boolean useBAQedPileup,
final GenomeLocParser locParser) { final GenomeLocParser locParser,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
GenomeLoc loc = ref.getLocus(); GenomeLoc loc = ref.getLocus();
// if (!ref.getLocus().equals(lastSiteVisited)) { // if (!ref.getLocus().equals(lastSiteVisited)) {
if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) { if (contextType == AlignmentContextUtils.ReadOrientation.COMPLETE) {
// starting a new site: clear allele list // starting a new site: clear allele list
lastSiteVisited = ref.getLocus();
indelLikelihoodMap.set(new HashMap<PileupElement, LinkedHashMap<Allele, Double>>());
haplotypeMap.clear(); haplotypeMap.clear();
perReadAlleleLikelihoodMap.clear(); // clean mapping sample-> per read, per allele likelihoods
alleleList = getInitialAlleleList(tracker, ref, contexts, contextType, locParser, UAC, ignoreSNPAllelesWhenGenotypingIndels); alleleList = getInitialAlleleList(tracker, ref, contexts, contextType, locParser, UAC, ignoreSNPAllelesWhenGenotypingIndels);
if (alleleList.isEmpty()) if (alleleList.isEmpty())
return null; return null;
@ -130,10 +116,14 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood
for (Map.Entry<String, AlignmentContext> sample : contexts.entrySet()) { for (Map.Entry<String, AlignmentContext> sample : contexts.entrySet()) {
AlignmentContext context = AlignmentContextUtils.stratify(sample.getValue(), contextType); AlignmentContext context = AlignmentContextUtils.stratify(sample.getValue(), contextType);
if (!perReadAlleleLikelihoodMap.containsKey(sample.getKey())){
// no likelihoods have been computed for this sample at this site
perReadAlleleLikelihoodMap.put(sample.getKey(), new PerReadAlleleLikelihoodMap());
}
final ReadBackedPileup pileup = context.getBasePileup(); final ReadBackedPileup pileup = context.getBasePileup();
if (pileup != null) { if (pileup != null) {
final GenotypeBuilder b = new GenotypeBuilder(sample.getKey()); final GenotypeBuilder b = new GenotypeBuilder(sample.getKey());
final double[] genotypeLikelihoods = pairModel.computeDiploidReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, getIndelLikelihoodMap()); final double[] genotypeLikelihoods = pairModel.computeDiploidReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, perReadAlleleLikelihoodMap.get(sample.getKey()));
b.PL(genotypeLikelihoods); b.PL(genotypeLikelihoods);
b.DP(getFilteredDepth(pileup)); b.DP(getFilteredDepth(pileup));
genotypes.add(b.make()); genotypes.add(b.make());
@ -150,10 +140,6 @@ public class IndelGenotypeLikelihoodsCalculationModel extends GenotypeLikelihood
return builder.genotypes(genotypes).make(); return builder.genotypes(genotypes).make();
} }
public static HashMap<PileupElement, LinkedHashMap<Allele, Double>> getIndelLikelihoodMap() {
return indelLikelihoodMap.get();
}
public static void getHaplotypeMapFromAlleles(final List<Allele> alleleList, public static void getHaplotypeMapFromAlleles(final List<Allele> alleleList,
final ReferenceContext ref, final ReferenceContext ref,
final GenomeLoc loc, final GenomeLoc loc,

135
public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/PerReadAlleleLikelihoodMap.java 100644
View File

@ -0,0 +1,135 @@
/*
* Copyright (c) 2011 The Broad Institute
*
* Permission is hereby granted, free of charge, to any person
* obtaining a copy of this software and associated documentation
* files (the "Software"), to deal in the Software without
* restriction, including without limitation the rights to use,
* copy, modify, merge, publish, distribute, sublicense, and/or sell
* copies of the Software, and to permit persons to whom the
* Software is furnished to do so, subject to the following
* conditions:
*
* The above copyright notice and this permission notice shall be
* included in all copies or substantial portions of the Software.
*
* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND,
* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES
* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND
* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT
* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY,
* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING
* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR
* THE USE OR OTHER DEALINGS IN THE SOFTWARE.
*/
package org.broadinstitute.sting.gatk.walkers.genotyper;
//import org.broadinstitute.sting.gatk.walkers.Requires;
import com.google.java.contract.Requires;
import org.broadinstitute.sting.utils.pileup.PileupElement;
import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
import org.broadinstitute.sting.utils.variantcontext.Allele;
import java.util.*;
public class PerReadAlleleLikelihoodMap {
public static final double INDEL_LIKELIHOOD_THRESH = 0.1;
private List<Allele> alleles;
private Map<GATKSAMRecord,Map<Allele,Double>> likelihoodReadMap;
public PerReadAlleleLikelihoodMap() {
likelihoodReadMap = new LinkedHashMap<GATKSAMRecord,Map<Allele,Double>>();
alleles = new ArrayList<Allele>();
}
public void add(GATKSAMRecord read, Allele a, Double likelihood) {
Map<Allele,Double> likelihoodMap;
if (likelihoodReadMap.containsKey(read)){
// seen pileup element before
likelihoodMap = likelihoodReadMap.get(read);
}
else {
likelihoodMap = new HashMap<Allele, Double>();
likelihoodReadMap.put(read,likelihoodMap);
}
likelihoodMap.put(a,likelihood);
if (!alleles.contains(a))
alleles.add(a);
}
public int size() {
return likelihoodReadMap.size();
}
public void add(PileupElement p, Allele a, Double likelihood) {
add(p.getRead(),a,likelihood);
}
public boolean containsPileupElement(PileupElement p) {
return likelihoodReadMap.containsKey(p.getRead());
}
public boolean isEmpty() {
return likelihoodReadMap.isEmpty();
}
public Map<GATKSAMRecord,Map<Allele,Double>> getLikelihoodReadMap() {
return likelihoodReadMap;
}
public void clear() {
alleles.clear();
likelihoodReadMap.clear();
}
public Set<GATKSAMRecord> getStoredElements() {
return likelihoodReadMap.keySet();
}
public Collection<Map<Allele,Double>> getLikelihoodMapValues() {
return likelihoodReadMap.values();
}
public int getNumberOfStoredElements() {
return likelihoodReadMap.size();
}
/**
* Returns list of reads greedily associated with a particular allele.
* Needs to loop for each read, and assign to each allele
* @param a Desired allele
* @return
*/
@Requires("a!=null")
public List<GATKSAMRecord> getReadsAssociatedWithAllele(Allele a) {
return null;
}
public Map<Allele,Double> getLikelihoodsAssociatedWithPileupElement(PileupElement p) {
if (!likelihoodReadMap.containsKey(p.getRead()))
return null;
return likelihoodReadMap.get(p.getRead());
}
public static Allele getMostLikelyAllele(Map<Allele,Double> alleleMap) {
double minLike = Double.POSITIVE_INFINITY, maxLike = Double.NEGATIVE_INFINITY;
Allele mostLikelyAllele = Allele.NO_CALL;
for (Map.Entry<Allele,Double> el : alleleMap.entrySet()) {
if (el.getValue() > maxLike) {
maxLike = el.getValue();
mostLikelyAllele = el.getKey();
}
if (el.getValue() < minLike)
minLike = el.getValue();
}
if (maxLike-minLike > INDEL_LIKELIHOOD_THRESH)
return mostLikelyAllele;
else
return Allele.NO_CALL;
}
}

5
public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/SNPGenotypeLikelihoodsCalculationModel.java
View File

@ -62,7 +62,10 @@ public class SNPGenotypeLikelihoodsCalculationModel extends GenotypeLikelihoodsC
final AlignmentContextUtils.ReadOrientation contextType, final AlignmentContextUtils.ReadOrientation contextType,
final List<Allele> allAllelesToUse, final List<Allele> allAllelesToUse,
final boolean useBAQedPileup, final boolean useBAQedPileup,
final GenomeLocParser locParser) { final GenomeLocParser locParser,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
perReadAlleleLikelihoodMap.clear(); // not used in SNP model, sanity check to delete any older data
final byte refBase = ref.getBase(); final byte refBase = ref.getBase();
final int indexOfRefBase = BaseUtils.simpleBaseToBaseIndex(refBase); final int indexOfRefBase = BaseUtils.simpleBaseToBaseIndex(refBase);

59
public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedArgumentCollection.java
View File

@ -26,11 +26,12 @@
package org.broadinstitute.sting.gatk.walkers.genotyper; package org.broadinstitute.sting.gatk.walkers.genotyper;
import org.broadinstitute.sting.commandline.*; import org.broadinstitute.sting.commandline.*;
import org.broadinstitute.sting.gatk.arguments.StandardCallerArgumentCollection;
import org.broadinstitute.sting.utils.variantcontext.VariantContext; import org.broadinstitute.sting.utils.variantcontext.VariantContext;
import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils; import org.broadinstitute.sting.utils.variantcontext.VariantContextUtils;
public class UnifiedArgumentCollection { public class UnifiedArgumentCollection extends StandardCallerArgumentCollection {
@Argument(fullName = "genotype_likelihoods_model", shortName = "glm", doc = "Genotype likelihoods calculation model to employ -- SNP is the default option, while INDEL is also available for calling indels and BOTH is available for calling both together", required = false) @Argument(fullName = "genotype_likelihoods_model", shortName = "glm", doc = "Genotype likelihoods calculation model to employ -- SNP is the default option, while INDEL is also available for calling indels and BOTH is available for calling both together", required = false)
public GenotypeLikelihoodsCalculationModel.Model GLmodel = GenotypeLikelihoodsCalculationModel.Model.SNP; public GenotypeLikelihoodsCalculationModel.Model GLmodel = GenotypeLikelihoodsCalculationModel.Model.SNP;
@ -42,13 +43,6 @@ public class UnifiedArgumentCollection {
@Argument(fullName = "p_nonref_model", shortName = "pnrm", doc = "Non-reference probability calculation model to employ", required = false) @Argument(fullName = "p_nonref_model", shortName = "pnrm", doc = "Non-reference probability calculation model to employ", required = false)
protected AlleleFrequencyCalculationModel.Model AFmodel = AlleleFrequencyCalculationModel.Model.EXACT; protected AlleleFrequencyCalculationModel.Model AFmodel = AlleleFrequencyCalculationModel.Model.EXACT;
/**
* The expected heterozygosity value used to compute prior likelihoods for any locus. The default priors are:
* het = 1e-3, P(hom-ref genotype) = 1 - 3 * het / 2, P(het genotype) = het, P(hom-var genotype) = het / 2
*/
@Argument(fullName = "heterozygosity", shortName = "hets", doc = "Heterozygosity value used to compute prior likelihoods for any locus", required = false)
public Double heterozygosity = UnifiedGenotyperEngine.HUMAN_SNP_HETEROZYGOSITY;
/** /**
* The PCR error rate is independent of the sequencing error rate, which is necessary because we cannot necessarily * The PCR error rate is independent of the sequencing error rate, which is necessary because we cannot necessarily
* distinguish between PCR errors vs. sequencing errors. The practical implication for this value is that it * distinguish between PCR errors vs. sequencing errors. The practical implication for this value is that it
@ -57,26 +51,6 @@ public class UnifiedArgumentCollection {
@Argument(fullName = "pcr_error_rate", shortName = "pcr_error", doc = "The PCR error rate to be used for computing fragment-based likelihoods", required = false) @Argument(fullName = "pcr_error_rate", shortName = "pcr_error", doc = "The PCR error rate to be used for computing fragment-based likelihoods", required = false)
public Double PCR_error = DiploidSNPGenotypeLikelihoods.DEFAULT_PCR_ERROR_RATE; public Double PCR_error = DiploidSNPGenotypeLikelihoods.DEFAULT_PCR_ERROR_RATE;
@Argument(fullName = "genotyping_mode", shortName = "gt_mode", doc = "Specifies how to determine the alternate alleles to use for genotyping", required = false)
public GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE GenotypingMode = GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.DISCOVERY;
@Argument(fullName = "output_mode", shortName = "out_mode", doc = "Specifies which type of calls we should output", required = false)
public UnifiedGenotyperEngine.OUTPUT_MODE OutputMode = UnifiedGenotyperEngine.OUTPUT_MODE.EMIT_VARIANTS_ONLY;
/**
* The minimum phred-scaled Qscore threshold to separate high confidence from low confidence calls. Only genotypes with
* confidence >= this threshold are emitted as called sites. A reasonable threshold is 30 for high-pass calling (this
* is the default).
*/
@Argument(fullName = "standard_min_confidence_threshold_for_calling", shortName = "stand_call_conf", doc = "The minimum phred-scaled confidence threshold at which variants should be called", required = false)
public double STANDARD_CONFIDENCE_FOR_CALLING = 30.0;
/**
* This argument allows you to emit low quality calls as filtered records.
*/
@Argument(fullName = "standard_min_confidence_threshold_for_emitting", shortName = "stand_emit_conf", doc = "The minimum phred-scaled confidence threshold at which variants should be emitted (and filtered with LowQual if less than the calling threshold)", required = false)
public double STANDARD_CONFIDENCE_FOR_EMITTING = 30.0;
/** /**
* Note that calculating the SLOD increases the runtime by an appreciable amount. * Note that calculating the SLOD increases the runtime by an appreciable amount.
*/ */
@ -90,12 +64,6 @@ public class UnifiedArgumentCollection {
@Argument(fullName = "annotateNDA", shortName = "nda", doc = "If provided, we will annotate records with the number of alternate alleles that were discovered (but not necessarily genotyped) at a given site", required = false) @Argument(fullName = "annotateNDA", shortName = "nda", doc = "If provided, we will annotate records with the number of alternate alleles that were discovered (but not necessarily genotyped) at a given site", required = false)
public boolean ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED = false; public boolean ANNOTATE_NUMBER_OF_ALLELES_DISCOVERED = false;
/**
* When the UnifiedGenotyper is put into GENOTYPE_GIVEN_ALLELES mode it will genotype the samples using only the alleles provide in this rod binding
*/
@Input(fullName="alleles", shortName = "alleles", doc="The set of alleles at which to genotype when --genotyping_mode is GENOTYPE_GIVEN_ALLELES", required=false)
public RodBinding<VariantContext> alleles;
/** /**
* The minimum confidence needed in a given base for it to be used in variant calling. Note that the base quality of a base * The minimum confidence needed in a given base for it to be used in variant calling. Note that the base quality of a base
* is capped by the mapping quality so that bases on reads with low mapping quality may get filtered out depending on this value. * is capped by the mapping quality so that bases on reads with low mapping quality may get filtered out depending on this value.
@ -107,16 +75,6 @@ public class UnifiedArgumentCollection {
@Argument(fullName = "max_deletion_fraction", shortName = "deletions", doc = "Maximum fraction of reads with deletions spanning this locus for it to be callable [to disable, set to < 0 or > 1; default:0.05]", required = false) @Argument(fullName = "max_deletion_fraction", shortName = "deletions", doc = "Maximum fraction of reads with deletions spanning this locus for it to be callable [to disable, set to < 0 or > 1; default:0.05]", required = false)
public Double MAX_DELETION_FRACTION = 0.05; public Double MAX_DELETION_FRACTION = 0.05;
/**
* If there are more than this number of alternate alleles presented to the genotyper (either through discovery or GENOTYPE_GIVEN ALLELES),
* then only this many alleles will be used. Note that genotyping sites with many alternate alleles is both CPU and memory intensive and it
* scales exponentially based on the number of alternate alleles. Unless there is a good reason to change the default value, we highly recommend
* that you not play around with this parameter.
*/
@Advanced
@Argument(fullName = "max_alternate_alleles", shortName = "maxAltAlleles", doc = "Maximum number of alternate alleles to genotype", required = false)
public int MAX_ALTERNATE_ALLELES = 3;
@Hidden @Hidden
@Argument(fullName = "cap_max_alternate_alleles_for_indels", shortName = "capMaxAltAllelesForIndels", doc = "Cap the maximum number of alternate alleles to genotype for indel calls at 2; overrides the --max_alternate_alleles argument; GSA production use only", required = false) @Argument(fullName = "cap_max_alternate_alleles_for_indels", shortName = "capMaxAltAllelesForIndels", doc = "Cap the maximum number of alternate alleles to genotype for indel calls at 2; overrides the --max_alternate_alleles argument; GSA production use only", required = false)
public boolean CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS = false; public boolean CAP_MAX_ALTERNATE_ALLELES_FOR_INDELS = false;
@ -139,7 +97,6 @@ public class UnifiedArgumentCollection {
@Argument(fullName = "min_indel_fraction_per_sample", shortName = "minIndelFrac", doc = "Minimum fraction of all reads at a locus that must contain an indel (of any allele) for that sample to contribute to the indel count for alleles", required = false) @Argument(fullName = "min_indel_fraction_per_sample", shortName = "minIndelFrac", doc = "Minimum fraction of all reads at a locus that must contain an indel (of any allele) for that sample to contribute to the indel count for alleles", required = false)
public double MIN_INDEL_FRACTION_PER_SAMPLE = 0.25; public double MIN_INDEL_FRACTION_PER_SAMPLE = 0.25;
/** /**
* This argument informs the prior probability of having an indel at a site. * This argument informs the prior probability of having an indel at a site.
*/ */
@ -181,7 +138,6 @@ public class UnifiedArgumentCollection {
Generalized ploidy argument (debug only): When building site error models, ignore lane information and build only Generalized ploidy argument (debug only): When building site error models, ignore lane information and build only
sample-level error model sample-level error model
*/ */
@Argument(fullName = "ignoreLaneInfo", shortName = "ignoreLane", doc = "Ignore lane when building error model, error model is then per-site", required = false) @Argument(fullName = "ignoreLaneInfo", shortName = "ignoreLane", doc = "Ignore lane when building error model, error model is then per-site", required = false)
public boolean IGNORE_LANE_INFO = false; public boolean IGNORE_LANE_INFO = false;
@ -275,5 +231,16 @@ public class UnifiedArgumentCollection {
return uac; return uac;
} }
public UnifiedArgumentCollection() { }
public UnifiedArgumentCollection( final StandardCallerArgumentCollection SCAC ) {
super();
this.alleles = SCAC.alleles;
this.GenotypingMode = SCAC.GenotypingMode;
this.heterozygosity = SCAC.heterozygosity;
this.MAX_ALTERNATE_ALLELES = SCAC.MAX_ALTERNATE_ALLELES;
this.OutputMode = SCAC.OutputMode;
this.STANDARD_CONFIDENCE_FOR_CALLING = SCAC.STANDARD_CONFIDENCE_FOR_CALLING;
this.STANDARD_CONFIDENCE_FOR_EMITTING = SCAC.STANDARD_CONFIDENCE_FOR_EMITTING;
}
} }

67
public/java/src/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperEngine.java
View File

@ -177,19 +177,23 @@ public class UnifiedGenotyperEngine {
final List<VariantCallContext> results = new ArrayList<VariantCallContext>(2); final List<VariantCallContext> results = new ArrayList<VariantCallContext>(2);
final List<GenotypeLikelihoodsCalculationModel.Model> models = getGLModelsToUse(tracker, refContext, rawContext); final List<GenotypeLikelihoodsCalculationModel.Model> models = getGLModelsToUse(tracker, refContext, rawContext);
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap = new HashMap<String,PerReadAlleleLikelihoodMap>();
if ( models.isEmpty() ) { if ( models.isEmpty() ) {
results.add(UAC.OutputMode == OUTPUT_MODE.EMIT_ALL_SITES && UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ? generateEmptyContext(tracker, refContext, null, rawContext) : null); results.add(UAC.OutputMode == OUTPUT_MODE.EMIT_ALL_SITES && UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ? generateEmptyContext(tracker, refContext, null, rawContext) : null);
} }
else { else {
for ( final GenotypeLikelihoodsCalculationModel.Model model : models ) { for ( final GenotypeLikelihoodsCalculationModel.Model model : models ) {
perReadAlleleLikelihoodMap.clear();
final Map<String, AlignmentContext> stratifiedContexts = getFilteredAndStratifiedContexts(UAC, refContext, rawContext, model); final Map<String, AlignmentContext> stratifiedContexts = getFilteredAndStratifiedContexts(UAC, refContext, rawContext, model);
if ( stratifiedContexts == null ) { if ( stratifiedContexts == null ) {
results.add(UAC.OutputMode == OUTPUT_MODE.EMIT_ALL_SITES && UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ? generateEmptyContext(tracker, refContext, null, rawContext) : null); results.add(UAC.OutputMode == OUTPUT_MODE.EMIT_ALL_SITES && UAC.GenotypingMode == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES ? generateEmptyContext(tracker, refContext, null, rawContext) : null);
} }
else { else {
final VariantContext vc = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.COMPLETE, null, true, model); final VariantContext vc = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.COMPLETE, null, true, model, perReadAlleleLikelihoodMap);
if ( vc != null ) if ( vc != null )
results.add(calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, true)); results.add(calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, true, perReadAlleleLikelihoodMap));
} }
} }
} }
@ -219,9 +223,13 @@ public class UnifiedGenotyperEngine {
* @param tracker the meta data tracker * @param tracker the meta data tracker
* @param refContext the reference base * @param refContext the reference base
* @param rawContext contextual information around the locus * @param rawContext contextual information around the locus
* @param perReadAlleleLikelihoodMap Map to store per-sample, per-read, per-allele likelihoods (only used for indels)
* @return the VariantContext object * @return the VariantContext object
*/ */
public VariantContext calculateLikelihoods(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext) { public VariantContext calculateLikelihoods(final RefMetaDataTracker tracker,
final ReferenceContext refContext,
final AlignmentContext rawContext,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
final List<GenotypeLikelihoodsCalculationModel.Model> models = getGLModelsToUse(tracker, refContext, rawContext); final List<GenotypeLikelihoodsCalculationModel.Model> models = getGLModelsToUse(tracker, refContext, rawContext);
if ( models.isEmpty() ) { if ( models.isEmpty() ) {
return null; return null;
@ -231,7 +239,7 @@ public class UnifiedGenotyperEngine {
final Map<String, AlignmentContext> stratifiedContexts = getFilteredAndStratifiedContexts(UAC, refContext, rawContext, model); final Map<String, AlignmentContext> stratifiedContexts = getFilteredAndStratifiedContexts(UAC, refContext, rawContext, model);
// return the first valid one we encounter // return the first valid one we encounter
if ( stratifiedContexts != null ) if ( stratifiedContexts != null )
return calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.COMPLETE, null, true, model); return calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.COMPLETE, null, true, model, perReadAlleleLikelihoodMap);
} }
@ -247,7 +255,10 @@ public class UnifiedGenotyperEngine {
* @param vc the GL-annotated variant context * @param vc the GL-annotated variant context
* @return the VariantCallContext object * @return the VariantCallContext object
*/ */
public VariantCallContext calculateGenotypes(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext, VariantContext vc) { public VariantCallContext calculateGenotypes(final RefMetaDataTracker tracker,
final ReferenceContext refContext,
final AlignmentContext rawContext,
final VariantContext vc) {
final List<GenotypeLikelihoodsCalculationModel.Model> models = getGLModelsToUse(tracker, refContext, rawContext); final List<GenotypeLikelihoodsCalculationModel.Model> models = getGLModelsToUse(tracker, refContext, rawContext);
if ( models.isEmpty() ) { if ( models.isEmpty() ) {
return null; return null;
@ -256,7 +267,7 @@ public class UnifiedGenotyperEngine {
// return the first one // return the first one
final GenotypeLikelihoodsCalculationModel.Model model = models.get(0); final GenotypeLikelihoodsCalculationModel.Model model = models.get(0);
final Map<String, AlignmentContext> stratifiedContexts = getFilteredAndStratifiedContexts(UAC, refContext, rawContext, model); final Map<String, AlignmentContext> stratifiedContexts = getFilteredAndStratifiedContexts(UAC, refContext, rawContext, model);
return calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model); return calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, null);
} }
/** /**
@ -266,7 +277,7 @@ public class UnifiedGenotyperEngine {
* @return the VariantCallContext object * @return the VariantCallContext object
*/ */
public VariantCallContext calculateGenotypes(VariantContext vc) { public VariantCallContext calculateGenotypes(VariantContext vc) {
return calculateGenotypes(null, null, null, null, vc, GenotypeLikelihoodsCalculationModel.Model.valueOf("SNP"), false); return calculateGenotypes(null, null, null, null, vc, GenotypeLikelihoodsCalculationModel.Model.valueOf("SNP"), null);
} }
@ -277,14 +288,21 @@ public class UnifiedGenotyperEngine {
// --------------------------------------------------------------------------------------------------------- // ---------------------------------------------------------------------------------------------------------
// private method called by both UnifiedGenotyper and UGCalcLikelihoods entry points into the engine // private method called by both UnifiedGenotyper and UGCalcLikelihoods entry points into the engine
private VariantContext calculateLikelihoods(RefMetaDataTracker tracker, ReferenceContext refContext, Map<String, AlignmentContext> stratifiedContexts, AlignmentContextUtils.ReadOrientation type, List<Allele> alternateAllelesToUse, boolean useBAQedPileup, final GenotypeLikelihoodsCalculationModel.Model model) { private VariantContext calculateLikelihoods(final RefMetaDataTracker tracker,
final ReferenceContext refContext,
final Map<String, AlignmentContext> stratifiedContexts,
final AlignmentContextUtils.ReadOrientation type,
final List<Allele> alternateAllelesToUse,
final boolean useBAQedPileup,
final GenotypeLikelihoodsCalculationModel.Model model,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
// initialize the data for this thread if that hasn't been done yet // initialize the data for this thread if that hasn't been done yet
if ( glcm.get() == null ) { if ( glcm.get() == null ) {
glcm.set(getGenotypeLikelihoodsCalculationObject(logger, UAC)); glcm.set(getGenotypeLikelihoodsCalculationObject(logger, UAC));
} }
return glcm.get().get(model.name().toUpperCase()).getLikelihoods(tracker, refContext, stratifiedContexts, type, alternateAllelesToUse, useBAQedPileup && BAQEnabledOnCMDLine, genomeLocParser); return glcm.get().get(model.name().toUpperCase()).getLikelihoods(tracker, refContext, stratifiedContexts, type, alternateAllelesToUse, useBAQedPileup && BAQEnabledOnCMDLine, genomeLocParser, perReadAlleleLikelihoodMap);
} }
private VariantCallContext generateEmptyContext(RefMetaDataTracker tracker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, AlignmentContext rawContext) { private VariantCallContext generateEmptyContext(RefMetaDataTracker tracker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, AlignmentContext rawContext) {
@ -315,12 +333,22 @@ public class UnifiedGenotyperEngine {
return new VariantCallContext(vc, false); return new VariantCallContext(vc, false);
} }
public VariantCallContext calculateGenotypes(VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model) { public VariantCallContext calculateGenotypes(final VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model, final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
return calculateGenotypes(null, null, null, null, vc, model); return calculateGenotypes(null, null, null, null, vc, model, perReadAlleleLikelihoodMap);
} }
public VariantCallContext calculateGenotypes(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model) { public VariantCallContext calculateGenotypes(final VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model) {
return calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, false); return calculateGenotypes(null, null, null, null, vc, model, null);
}
public VariantCallContext calculateGenotypes(final RefMetaDataTracker tracker,
final ReferenceContext refContext,
final AlignmentContext rawContext,
final Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc,
final GenotypeLikelihoodsCalculationModel.Model model,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
return calculateGenotypes(tracker, refContext, rawContext, stratifiedContexts, vc, model, false,perReadAlleleLikelihoodMap);
} }
/** /**
@ -334,8 +362,11 @@ public class UnifiedGenotyperEngine {
* @param inheritAttributesFromInputVC Output VC will contain attributes inherited from input vc * @param inheritAttributesFromInputVC Output VC will contain attributes inherited from input vc
* @return VC with assigned genotypes * @return VC with assigned genotypes
*/ */
public VariantCallContext calculateGenotypes(RefMetaDataTracker tracker, ReferenceContext refContext, AlignmentContext rawContext, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model, public VariantCallContext calculateGenotypes(final RefMetaDataTracker tracker, final ReferenceContext refContext,
final boolean inheritAttributesFromInputVC) { final AlignmentContext rawContext, Map<String, AlignmentContext> stratifiedContexts,
final VariantContext vc, final GenotypeLikelihoodsCalculationModel.Model model,
final boolean inheritAttributesFromInputVC,
final Map<String,PerReadAlleleLikelihoodMap> perReadAlleleLikelihoodMap) {
boolean limitedContext = tracker == null || refContext == null || rawContext == null || stratifiedContexts == null; boolean limitedContext = tracker == null || refContext == null || rawContext == null || stratifiedContexts == null;
@ -462,7 +493,7 @@ public class UnifiedGenotyperEngine {
List<Allele> allAllelesToUse = builder.make().getAlleles(); List<Allele> allAllelesToUse = builder.make().getAlleles();
// the forward lod // the forward lod
VariantContext vcForward = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.FORWARD, allAllelesToUse, false, model); VariantContext vcForward = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.FORWARD, allAllelesToUse, false, model, perReadAlleleLikelihoodMap);
AFresult.reset(); AFresult.reset();
afcm.get().getLog10PNonRef(vcForward, getAlleleFrequencyPriors(model), AFresult); afcm.get().getLog10PNonRef(vcForward, getAlleleFrequencyPriors(model), AFresult);
//double[] normalizedLog10Posteriors = MathUtils.normalizeFromLog10(AFresult.log10AlleleFrequencyPosteriors, true); //double[] normalizedLog10Posteriors = MathUtils.normalizeFromLog10(AFresult.log10AlleleFrequencyPosteriors, true);
@ -471,7 +502,7 @@ public class UnifiedGenotyperEngine {
//if ( DEBUG_SLOD ) System.out.println("forwardLog10PofNull=" + forwardLog10PofNull + ", forwardLog10PofF=" + forwardLog10PofF); //if ( DEBUG_SLOD ) System.out.println("forwardLog10PofNull=" + forwardLog10PofNull + ", forwardLog10PofF=" + forwardLog10PofF);
// the reverse lod // the reverse lod
VariantContext vcReverse = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.REVERSE, allAllelesToUse, false, model); VariantContext vcReverse = calculateLikelihoods(tracker, refContext, stratifiedContexts, AlignmentContextUtils.ReadOrientation.REVERSE, allAllelesToUse, false, model, perReadAlleleLikelihoodMap);
AFresult.reset(); AFresult.reset();
afcm.get().getLog10PNonRef(vcReverse, getAlleleFrequencyPriors(model), AFresult); afcm.get().getLog10PNonRef(vcReverse, getAlleleFrequencyPriors(model), AFresult);
//normalizedLog10Posteriors = MathUtils.normalizeFromLog10(AFresult.log10AlleleFrequencyPosteriors, true); //normalizedLog10Posteriors = MathUtils.normalizeFromLog10(AFresult.log10AlleleFrequencyPosteriors, true);
@ -507,7 +538,7 @@ public class UnifiedGenotyperEngine {
final ReadBackedPileup pileup = rawContext.getBasePileup(); final ReadBackedPileup pileup = rawContext.getBasePileup();
stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(pileup); stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(pileup);
vcCall = annotationEngine.annotateContext(tracker, refContext, stratifiedContexts, vcCall); vcCall = annotationEngine.annotateContext(tracker, refContext, stratifiedContexts, vcCall, perReadAlleleLikelihoodMap);
} }
return new VariantCallContext(vcCall, confidentlyCalled(phredScaledConfidence, PofF)); return new VariantCallContext(vcCall, confidentlyCalled(phredScaledConfidence, PofF));

78
public/java/src/org/broadinstitute/sting/gatk/walkers/indels/PairHMMIndelErrorModel.java
View File

@ -27,6 +27,7 @@ package org.broadinstitute.sting.gatk.walkers.indels;
import com.google.java.contract.Ensures; import com.google.java.contract.Ensures;
import org.broadinstitute.sting.gatk.contexts.ReferenceContext; import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
import org.broadinstitute.sting.gatk.walkers.genotyper.PerReadAlleleLikelihoodMap;
import org.broadinstitute.sting.utils.Haplotype; import org.broadinstitute.sting.utils.Haplotype;
import org.broadinstitute.sting.utils.MathUtils; import org.broadinstitute.sting.utils.MathUtils;
import org.broadinstitute.sting.utils.PairHMM; import org.broadinstitute.sting.utils.PairHMM;
@ -40,6 +41,7 @@ import org.broadinstitute.sting.utils.variantcontext.Allele;
import java.util.Arrays; import java.util.Arrays;
import java.util.HashMap; import java.util.HashMap;
import java.util.LinkedHashMap; import java.util.LinkedHashMap;
import java.util.Map;
public class PairHMMIndelErrorModel { public class PairHMMIndelErrorModel {
@ -167,11 +169,15 @@ public class PairHMMIndelErrorModel {
} }
public synchronized double[] computeDiploidReadHaplotypeLikelihoods(ReadBackedPileup pileup, LinkedHashMap<Allele, Haplotype> haplotypeMap, ReferenceContext ref, int eventLength, HashMap<PileupElement, LinkedHashMap<Allele, Double>> indelLikelihoodMap){ public synchronized double[] computeDiploidReadHaplotypeLikelihoods(final ReadBackedPileup pileup,
final LinkedHashMap<Allele, Haplotype> haplotypeMap,
final ReferenceContext ref,
final int eventLength,
final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap){
final int numHaplotypes = haplotypeMap.size(); final int numHaplotypes = haplotypeMap.size();
final int readCounts[] = new int[pileup.getNumberOfElements()]; final int readCounts[] = new int[pileup.getNumberOfElements()];
final double[][] readLikelihoods = computeGeneralReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, indelLikelihoodMap, readCounts); final double[][] readLikelihoods = computeGeneralReadHaplotypeLikelihoods(pileup, haplotypeMap, ref, eventLength, perReadAlleleLikelihoodMap, readCounts);
return getDiploidHaplotypeLikelihoods(numHaplotypes, readCounts, readLikelihoods); return getDiploidHaplotypeLikelihoods(numHaplotypes, readCounts, readLikelihoods);
} }
@ -181,7 +187,7 @@ public class PairHMMIndelErrorModel {
final LinkedHashMap<Allele, Haplotype> haplotypeMap, final LinkedHashMap<Allele, Haplotype> haplotypeMap,
final ReferenceContext ref, final ReferenceContext ref,
final int eventLength, final int eventLength,
final HashMap<PileupElement, LinkedHashMap<Allele, Double>> indelLikelihoodMap, final PerReadAlleleLikelihoodMap perReadAlleleLikelihoodMap,
final int[] readCounts) { final int[] readCounts) {
final double readLikelihoods[][] = new double[pileup.getNumberOfElements()][haplotypeMap.size()]; final double readLikelihoods[][] = new double[pileup.getNumberOfElements()][haplotypeMap.size()];
final PairHMM pairHMM = new PairHMM(bandedLikelihoods); final PairHMM pairHMM = new PairHMM(bandedLikelihoods);
@ -192,8 +198,8 @@ public class PairHMMIndelErrorModel {
readCounts[readIdx] = p.getRepresentativeCount(); readCounts[readIdx] = p.getRepresentativeCount();
// check if we've already computed likelihoods for this pileup element (i.e. for this read at this location) // check if we've already computed likelihoods for this pileup element (i.e. for this read at this location)
if (indelLikelihoodMap.containsKey(p)) { if (perReadAlleleLikelihoodMap.containsPileupElement(p)) {
HashMap<Allele,Double> el = indelLikelihoodMap.get(p); Map<Allele,Double> el = perReadAlleleLikelihoodMap.getLikelihoodsAssociatedWithPileupElement(p);
int j=0; int j=0;
for (Allele a: haplotypeMap.keySet()) { for (Allele a: haplotypeMap.keySet()) {
readLikelihoods[readIdx][j++] = el.get(a); readLikelihoods[readIdx][j++] = el.get(a);
@ -201,7 +207,7 @@ public class PairHMMIndelErrorModel {
} }
else { else {
final int refWindowStart = ref.getWindow().getStart(); final int refWindowStart = ref.getWindow().getStart();
final int refWindowStop = ref.getWindow().getStop(); final int refWindowStop = ref.getWindow().getStop();
if (DEBUG) { if (DEBUG) {
System.out.format("Read Name:%s, aln start:%d aln stop:%d orig cigar:%s\n",p.getRead().getReadName(), p.getRead().getAlignmentStart(), p.getRead().getAlignmentEnd(), p.getRead().getCigarString()); System.out.format("Read Name:%s, aln start:%d aln stop:%d orig cigar:%s\n",p.getRead().getReadName(), p.getRead().getAlignmentStart(), p.getRead().getAlignmentEnd(), p.getRead().getCigarString());
@ -280,7 +286,7 @@ public class PairHMMIndelErrorModel {
System.out.format("numStartSoftClippedBases: %d numEndSoftClippedBases: %d WinStart:%d WinStop:%d start: %d stop: %d readLength: %d\n", System.out.format("numStartSoftClippedBases: %d numEndSoftClippedBases: %d WinStart:%d WinStop:%d start: %d stop: %d readLength: %d\n",
numStartSoftClippedBases, numEndSoftClippedBases, ref.getWindow().getStart(), ref.getWindow().getStop(), startLocationInRefForHaplotypes, stopLocationInRefForHaplotypes, read.getReadLength()); numStartSoftClippedBases, numEndSoftClippedBases, ref.getWindow().getStart(), ref.getWindow().getStop(), startLocationInRefForHaplotypes, stopLocationInRefForHaplotypes, read.getReadLength());
LinkedHashMap<Allele,Double> readEl = new LinkedHashMap<Allele,Double>(); // LinkedHashMap<Allele,Double> readEl = new LinkedHashMap<Allele,Double>();
/** /**
* Check if we'll end up with an empty read once all clipping is done * Check if we'll end up with an empty read once all clipping is done
@ -288,7 +294,7 @@ public class PairHMMIndelErrorModel {
if (numStartSoftClippedBases + numEndSoftClippedBases >= unclippedReadBases.length) { if (numStartSoftClippedBases + numEndSoftClippedBases >= unclippedReadBases.length) {
int j=0; int j=0;
for (Allele a: haplotypeMap.keySet()) { for (Allele a: haplotypeMap.keySet()) {
readEl.put(a,0.0); perReadAlleleLikelihoodMap.add(p,a,0.0);
readLikelihoods[readIdx][j++] = 0.0; readLikelihoods[readIdx][j++] = 0.0;
} }
} }
@ -329,45 +335,45 @@ public class PairHMMIndelErrorModel {
final byte[] haplotypeBases = Arrays.copyOfRange(haplotype.getBases(), final byte[] haplotypeBases = Arrays.copyOfRange(haplotype.getBases(),
(int)indStart, (int)indStop); (int)indStart, (int)indStop);
final int X_METRIC_LENGTH = readBases.length+2; final int X_METRIC_LENGTH = readBases.length+2;
final int Y_METRIC_LENGTH = haplotypeBases.length+2; final int Y_METRIC_LENGTH = haplotypeBases.length+2;
if (matchMetricArray == null) { if (matchMetricArray == null) {
//no need to reallocate arrays for each new haplotype, as length won't change //no need to reallocate arrays for each new haplotype, as length won't change
matchMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; matchMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH];
XMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; XMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH];
YMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH]; YMetricArray = new double[X_METRIC_LENGTH][Y_METRIC_LENGTH];
PairHMM.initializeArrays(matchMetricArray, XMetricArray, YMetricArray, X_METRIC_LENGTH); PairHMM.initializeArrays(matchMetricArray, XMetricArray, YMetricArray, X_METRIC_LENGTH);
} }
int startIndexInHaplotype = 0; int startIndexInHaplotype = 0;
if (previousHaplotypeSeen != null) if (previousHaplotypeSeen != null)
startIndexInHaplotype = computeFirstDifferingPosition(haplotypeBases, previousHaplotypeSeen); startIndexInHaplotype = computeFirstDifferingPosition(haplotypeBases, previousHaplotypeSeen);
previousHaplotypeSeen = haplotypeBases.clone(); previousHaplotypeSeen = haplotypeBases.clone();
readLikelihood = pairHMM.computeReadLikelihoodGivenHaplotype(haplotypeBases, readBases, readQuals, readLikelihood = pairHMM.computeReadLikelihoodGivenHaplotype(haplotypeBases, readBases, readQuals,
(read.hasBaseIndelQualities() ? read.getBaseInsertionQualities() : contextLogGapOpenProbabilities), (read.hasBaseIndelQualities() ? read.getBaseInsertionQualities() : contextLogGapOpenProbabilities),
(read.hasBaseIndelQualities() ? read.getBaseDeletionQualities() : contextLogGapOpenProbabilities), (read.hasBaseIndelQualities() ? read.getBaseDeletionQualities() : contextLogGapOpenProbabilities),
contextLogGapContinuationProbabilities, contextLogGapContinuationProbabilities,
startIndexInHaplotype, matchMetricArray, XMetricArray, YMetricArray); startIndexInHaplotype, matchMetricArray, XMetricArray, YMetricArray);
if (DEBUG) { if (DEBUG) {
System.out.println("H:"+new String(haplotypeBases)); System.out.println("H:"+new String(haplotypeBases));
System.out.println("R:"+new String(readBases)); System.out.println("R:"+new String(readBases));
System.out.format("L:%4.2f\n",readLikelihood); System.out.format("L:%4.2f\n",readLikelihood);
System.out.format("StPos:%d\n", startIndexInHaplotype); System.out.format("StPos:%d\n", startIndexInHaplotype);
} }
readEl.put(a,readLikelihood);
perReadAlleleLikelihoodMap.add(p, a, readLikelihood);
readLikelihoods[readIdx][j++] = readLikelihood; readLikelihoods[readIdx][j++] = readLikelihood;
} }
} }
indelLikelihoodMap.put(p,readEl);
} }
readIdx++; readIdx++;
} }

19
public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/Tranche.java
View File

@ -29,10 +29,7 @@ import org.broadinstitute.sting.utils.exceptions.ReviewedStingException;
import org.broadinstitute.sting.utils.exceptions.UserException; import org.broadinstitute.sting.utils.exceptions.UserException;
import org.broadinstitute.sting.utils.text.XReadLines; import org.broadinstitute.sting.utils.text.XReadLines;
import java.io.ByteArrayOutputStream; import java.io.*;
import java.io.File;
import java.io.FileNotFoundException;
import java.io.PrintStream;
import java.util.*; import java.util.*;
/** /**
@ -41,7 +38,7 @@ import java.util.*;
* Date: Mar 10, 2011 * Date: Mar 10, 2011
*/ */
public class Tranche implements Comparable<Tranche> { public class Tranche {
private static final int CURRENT_VERSION = 5; private static final int CURRENT_VERSION = 5;
public double ts, minVQSLod, knownTiTv, novelTiTv; public double ts, minVQSLod, knownTiTv, novelTiTv;
@ -83,10 +80,14 @@ public class Tranche implements Comparable<Tranche> {
return accessibleTruthSites > 0 ? callsAtTruthSites / (1.0*accessibleTruthSites) : 0.0; return accessibleTruthSites > 0 ? callsAtTruthSites / (1.0*accessibleTruthSites) : 0.0;
} }
public int compareTo(Tranche other) { public static class TrancheTruthSensitivityComparator implements Comparator<Tranche>, Serializable {
return Double.compare(this.ts, other.ts); @Override
public int compare(final Tranche tranche1, final Tranche tranche2) {
return Double.compare(tranche1.ts, tranche2.ts);
}
} }
@Override
public String toString() { public String toString() {
return String.format("Tranche ts=%.2f minVQSLod=%.4f known=(%d @ %.4f) novel=(%d @ %.4f) truthSites(%d accessible, %d called), name=%s]", return String.format("Tranche ts=%.2f minVQSLod=%.4f known=(%d @ %.4f) novel=(%d @ %.4f) truthSites(%d accessible, %d called), name=%s]",
ts, minVQSLod, numKnown, knownTiTv, numNovel, novelTiTv, accessibleTruthSites, callsAtTruthSites, name); ts, minVQSLod, numKnown, knownTiTv, numNovel, novelTiTv, accessibleTruthSites, callsAtTruthSites, name);
@ -102,7 +103,7 @@ public class Tranche implements Comparable<Tranche> {
final ByteArrayOutputStream bytes = new ByteArrayOutputStream(); final ByteArrayOutputStream bytes = new ByteArrayOutputStream();
final PrintStream stream = new PrintStream(bytes); final PrintStream stream = new PrintStream(bytes);
Collections.sort(tranches); Collections.sort( tranches, new TrancheTruthSensitivityComparator() );
stream.println("# Variant quality score tranches file"); stream.println("# Variant quality score tranches file");
stream.println("# Version number " + CURRENT_VERSION); stream.println("# Version number " + CURRENT_VERSION);
@ -183,7 +184,7 @@ public class Tranche implements Comparable<Tranche> {
} }
} }
Collections.sort(tranches); Collections.sort( tranches, new TrancheTruthSensitivityComparator() );
return tranches; return tranches;
} catch( FileNotFoundException e ) { } catch( FileNotFoundException e ) {
throw new UserException.CouldNotReadInputFile(f, e); throw new UserException.CouldNotReadInputFile(f, e);

2
public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/TrancheManager.java
View File

@ -146,7 +146,7 @@ public class TrancheManager {
public static List<Tranche> findTranches( final ArrayList<VariantDatum> data, final double[] trancheThresholds, final SelectionMetric metric, final VariantRecalibratorArgumentCollection.Mode model, final File debugFile ) { public static List<Tranche> findTranches( final ArrayList<VariantDatum> data, final double[] trancheThresholds, final SelectionMetric metric, final VariantRecalibratorArgumentCollection.Mode model, final File debugFile ) {
logger.info(String.format("Finding %d tranches for %d variants", trancheThresholds.length, data.size())); logger.info(String.format("Finding %d tranches for %d variants", trancheThresholds.length, data.size()));
Collections.sort(data); Collections.sort( data, new VariantDatum.VariantDatumLODComparator() );
metric.calculateRunningMetric(data); metric.calculateRunningMetric(data);
if ( debugFile != null) { writeTranchesDebuggingInfo(debugFile, data, metric); } if ( debugFile != null) { writeTranchesDebuggingInfo(debugFile, data, metric); }

5
public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantDataManager.java
View File

@ -158,7 +158,7 @@ public class VariantDataManager {
logger.info( "Found " + numBadSitesAdded + " variants overlapping bad sites training tracks." ); logger.info( "Found " + numBadSitesAdded + " variants overlapping bad sites training tracks." );
// Next sort the variants by the LOD coming from the positive model and add to the list the bottom X percent of variants // Next sort the variants by the LOD coming from the positive model and add to the list the bottom X percent of variants
Collections.sort( data ); Collections.sort( data, new VariantDatum.VariantDatumLODComparator() );
final int numToAdd = Math.max( minimumNumber - trainingData.size(), Math.round((float)bottomPercentage * data.size()) ); final int numToAdd = Math.max( minimumNumber - trainingData.size(), Math.round((float)bottomPercentage * data.size()) );
if( numToAdd > data.size() ) { if( numToAdd > data.size() ) {
throw new UserException.BadInput( "Error during negative model training. Minimum number of variants to use in training is larger than the whole call set. One can attempt to lower the --minNumBadVariants arugment but this is unsafe." ); throw new UserException.BadInput( "Error during negative model training. Minimum number of variants to use in training is larger than the whole call set. One can attempt to lower the --minNumBadVariants arugment but this is unsafe." );
@ -286,6 +286,7 @@ public class VariantDataManager {
case INDEL: case INDEL:
case MIXED: case MIXED:
case SYMBOLIC: case SYMBOLIC:
case STRUCTURAL_INDEL:
return checkVariationClass( evalVC, VariantRecalibratorArgumentCollection.Mode.INDEL ); return checkVariationClass( evalVC, VariantRecalibratorArgumentCollection.Mode.INDEL );
default: default:
return false; return false;
@ -297,7 +298,7 @@ public class VariantDataManager {
case SNP: case SNP:
return evalVC.isSNP() || evalVC.isMNP(); return evalVC.isSNP() || evalVC.isMNP();
case INDEL: case INDEL:
return evalVC.isIndel() || evalVC.isMixed() || evalVC.isSymbolic(); return evalVC.isStructuralIndel() || evalVC.isIndel() || evalVC.isMixed() || evalVC.isSymbolic();
case BOTH: case BOTH:
return true; return true;
default: default:

13
public/java/src/org/broadinstitute/sting/gatk/walkers/variantrecalibration/VariantDatum.java
View File

@ -27,13 +27,16 @@ package org.broadinstitute.sting.gatk.walkers.variantrecalibration;
import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLoc;
import java.io.Serializable;
import java.util.Comparator;
/** /**
* Created by IntelliJ IDEA. * Created by IntelliJ IDEA.
* User: rpoplin * User: rpoplin
* Date: Mar 4, 2011 * Date: Mar 4, 2011
*/ */
public class VariantDatum implements Comparable<VariantDatum> { public class VariantDatum {
public double[] annotations; public double[] annotations;
public boolean[] isNull; public boolean[] isNull;
@ -52,8 +55,10 @@ public class VariantDatum implements Comparable<VariantDatum> {
public int worstAnnotation; public int worstAnnotation;
public MultivariateGaussian assignment; // used in K-means implementation public MultivariateGaussian assignment; // used in K-means implementation
@Override public static class VariantDatumLODComparator implements Comparator<VariantDatum>, Serializable {
public int compareTo( final VariantDatum other ) { @Override
return Double.compare(this.lod, other.lod); public int compare(final VariantDatum datum1, final VariantDatum datum2) {
return Double.compare(datum1.lod, datum2.lod);
}
} }
} }

22
public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/SelectVariants.java
View File

@ -265,7 +265,7 @@ public class SelectVariants extends RodWalker<Integer, Integer> implements TreeR
@Argument(fullName="restrictAllelesTo", shortName="restrictAllelesTo", doc="Select only variants of a particular allelicity. Valid options are ALL (default), MULTIALLELIC or BIALLELIC", required=false) @Argument(fullName="restrictAllelesTo", shortName="restrictAllelesTo", doc="Select only variants of a particular allelicity. Valid options are ALL (default), MULTIALLELIC or BIALLELIC", required=false)
private NumberAlleleRestriction alleleRestriction = NumberAlleleRestriction.ALL; private NumberAlleleRestriction alleleRestriction = NumberAlleleRestriction.ALL;
@Argument(fullName="keepOriginalAC", shortName="keepOriginalAC", doc="Don't update the AC, AF, or AN values in the INFO field after selecting", required=false) @Argument(fullName="keepOriginalAC", shortName="keepOriginalAC", doc="Store the original AC, AF, and AN values in the INFO field after selecting (using keys AC_Orig, AF_Orig, and AN_Orig)", required=false)
private boolean KEEP_ORIGINAL_CHR_COUNTS = false; private boolean KEEP_ORIGINAL_CHR_COUNTS = false;
/** /**
@ -322,6 +322,9 @@ public class SelectVariants extends RodWalker<Integer, Integer> implements TreeR
@Argument(fullName="justRead", doc="If true, we won't actually write the output file. For efficiency testing only", required=false) @Argument(fullName="justRead", doc="If true, we won't actually write the output file. For efficiency testing only", required=false)
private boolean justRead = false; private boolean justRead = false;
@Argument(doc="indel size select",required=false,fullName="maxIndelSize")
private int maxIndelSize = Integer.MAX_VALUE;
/* Private class used to store the intermediate variants in the integer random selection process */ /* Private class used to store the intermediate variants in the integer random selection process */
private static class RandomVariantStructure { private static class RandomVariantStructure {
@ -541,6 +544,9 @@ public class SelectVariants extends RodWalker<Integer, Integer> implements TreeR
if (!selectedTypes.contains(vc.getType())) if (!selectedTypes.contains(vc.getType()))
continue; continue;
if ( badIndelSize(vc) )
continue;
VariantContext sub = subsetRecord(vc, EXCLUDE_NON_VARIANTS); VariantContext sub = subsetRecord(vc, EXCLUDE_NON_VARIANTS);
if ( REGENOTYPE && sub.isPolymorphicInSamples() && hasPLs(sub) ) { if ( REGENOTYPE && sub.isPolymorphicInSamples() && hasPLs(sub) ) {
@ -572,6 +578,20 @@ public class SelectVariants extends RodWalker<Integer, Integer> implements TreeR
return 1; return 1;
} }
private boolean badIndelSize(final VariantContext vc) {
if ( vc.getReference().length() > maxIndelSize ) {
return true;
}
for ( Allele a : vc.getAlternateAlleles() ) {
if ( a.length() > maxIndelSize ) {
return true;
}
}
return false;
}
private boolean hasPLs(final VariantContext vc) { private boolean hasPLs(final VariantContext vc) {
for ( Genotype g : vc.getGenotypes() ) { for ( Genotype g : vc.getGenotypes() ) {
if ( g.hasLikelihoods() ) if ( g.hasLikelihoods() )

136
public/java/src/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPed.java
View File

@ -76,47 +76,11 @@ public class VariantsToBinaryPed extends RodWalker<Integer,Integer> {
private List<String> famOrder = new ArrayList<String>(); private List<String> famOrder = new ArrayList<String>();
public void initialize() { public void initialize() {
vv.variantCollection = variantCollection; initializeValidator();
vv.dbsnp = dbsnp; writeBedHeader();
vv.DO_NOT_VALIDATE_FILTERED = true; Map<String,Map<String,String>> sampleMetaValues = parseMetaData();
vv.type = ValidateVariants.ValidationType.REF;
// create temporary output streams and buffers // create temporary output streams and buffers
// write magic bits into the ped file
try {
outBed.write(new byte[] { (byte) 0x6c, (byte) 0x1b, 0x0});
// ultimately, the bed will be in individual-major mode
} catch (IOException e) {
throw new ReviewedStingException("error writing to output file.");
}
// write to the fam file, the first six columns of the standard ped file
// first, load data from the input meta data file
Map<String,Map<String,String>> metaValues = new HashMap<String,Map<String,String>>();
logger.debug("Reading in metadata...");
try {
if ( metaDataFile.getAbsolutePath().endsWith(".fam") ) {
for ( String line : new XReadLines(metaDataFile) ) {
String[] famSplit = line.split("\\t");
String sid = famSplit[1];
outFam.printf("%s%n",line);
}
} else {
for ( String line : new XReadLines(metaDataFile) ) {
logger.debug(line);
String[] split = line.split("\\t");
String sampleID = split[0];
String keyVals = split[1];
HashMap<String,String> values = new HashMap<String, String>();
for ( String kvp : keyVals.split(";") ) {
String[] kvp_split = kvp.split("=");
values.put(kvp_split[0],kvp_split[1]);
}
metaValues.put(sampleID,values);
}
}
} catch (FileNotFoundException e) {
throw new UserException("Meta data file not found: "+metaDataFile.getAbsolutePath(),e);
}
// family ID, individual ID, Paternal ID, Maternal ID, Sex, Phenotype // family ID, individual ID, Paternal ID, Maternal ID, Sex, Phenotype
int dummyID = 0; // increments for dummy parental and family IDs used int dummyID = 0; // increments for dummy parental and family IDs used
// want to be especially careful to maintain order here // want to be especially careful to maintain order here
@ -126,21 +90,23 @@ public class VariantsToBinaryPed extends RodWalker<Integer,Integer> {
continue; continue;
} }
for ( String sample : header.getValue().getGenotypeSamples() ) { for ( String sample : header.getValue().getGenotypeSamples() ) {
Map<String,String> mVals = metaValues.get(sample); if ( ! metaDataFile.getAbsolutePath().endsWith(".fam") ) {
if ( mVals == null ) { Map<String,String> mVals = sampleMetaValues.get(sample);
throw new UserException("No metadata provided for sample "+sample); if ( mVals == null ) {
throw new UserException("No metadata provided for sample "+sample);
}
if ( ! mVals.containsKey("phenotype") ) {
throw new UserException("No phenotype data provided for sample "+sample);
}
String fid = mVals.containsKey("fid") ? mVals.get("fid") : String.format("dummy_%d",++dummyID);
String pid = mVals.containsKey("dad") ? mVals.get("dad") : String.format("dummy_%d",++dummyID);
String mid = mVals.containsKey("mom") ? mVals.get("mom") : String.format("dummy_%d",++dummyID);
String sex = mVals.containsKey("sex") ? mVals.get("sex") : "3";
String pheno = mVals.get("phenotype");
outFam.printf("%s\t%s\t%s\t%s\t%s\t%s%n",fid,sample,pid,mid,sex,pheno);
} }
if ( ! mVals.containsKey("phenotype") ) {
throw new UserException("No phenotype data provided for sample "+sample);
}
String fid = mVals.containsKey("fid") ? mVals.get("fid") : String.format("dummy_%d",++dummyID);
String pid = mVals.containsKey("dad") ? mVals.get("dad") : String.format("dummy_%d",++dummyID);
String mid = mVals.containsKey("mom") ? mVals.get("mom") : String.format("dummy_%d",++dummyID);
String sex = mVals.containsKey("sex") ? mVals.get("sex") : "3";
String pheno = mVals.get("phenotype");
outFam.printf("%s\t%s\t%s\t%s\t%s\t%s%n",fid,sample,pid,mid,sex,pheno);
try { try {
File temp = File.createTempFile(sample, ".tmp"); File temp = File.createTempFile("VariantsToBPed_"+sample, ".tmp");
printMap.put(sample,new PrintStream(temp)); printMap.put(sample,new PrintStream(temp));
tempFiles.put(sample,temp); tempFiles.put(sample,temp);
} catch (IOException e) { } catch (IOException e) {
@ -216,6 +182,7 @@ public class VariantsToBinaryPed extends RodWalker<Integer,Integer> {
// reset the buffer for this sample // reset the buffer for this sample
genotypeBuffer.put(sample,new byte[BUFFER_SIZE]); genotypeBuffer.put(sample,new byte[BUFFER_SIZE]);
} }
byteCount = 0;
} }
genotypeCount = 0; genotypeCount = 0;
} }
@ -337,4 +304,69 @@ public class VariantsToBinaryPed extends RodWalker<Integer,Integer> {
throw new UserException("Allele frequency appears to be neither String nor Double. Please check the header of your VCF."); throw new UserException("Allele frequency appears to be neither String nor Double. Please check the header of your VCF.");
} }
} }
private void initializeValidator() {
vv.variantCollection = variantCollection;
vv.dbsnp = dbsnp;
vv.DO_NOT_VALIDATE_FILTERED = true;
vv.type = ValidateVariants.ValidationType.REF;
}
private void writeBedHeader() {
// write magic bits into the ped file
try {
outBed.write(new byte[] { (byte) 0x6c, (byte) 0x1b, 0x0});
// ultimately, the bed will be in individual-major mode
} catch (IOException e) {
throw new ReviewedStingException("error writing to output file.");
}
}
private Map<String,Map<String,String>> parseMetaData() {
// write to the fam file, the first six columns of the standard ped file
// first, load data from the input meta data file
Map<String,Map<String,String>> metaValues = new HashMap<String,Map<String,String>>();
logger.debug("Reading in metadata...");
try {
if ( metaDataFile.getAbsolutePath().endsWith(".fam") ) {
for ( String line : new XReadLines(metaDataFile) ) {
String[] famSplit = line.split("\\s+");
if ( famSplit.length != 6 ) {
throw new UserException("Line of the fam file is malformatted. Expected 6 entries. Line is "+line);
}
String sid = famSplit[1];
String fid = famSplit[0];
String mom = famSplit[2];
String dad = famSplit[3];
String sex = famSplit[4];
String pheno = famSplit[5];
HashMap<String,String> values = new HashMap<String, String>();
values.put("mom",mom);
values.put("dad",dad);
values.put("fid",fid);
values.put("sex",sex);
values.put("phenotype",pheno);
metaValues.put(sid,values);
outFam.printf("%s%n",line);
}
} else {
for ( String line : new XReadLines(metaDataFile) ) {
logger.debug(line);
String[] split = line.split("\\s+");
String sampleID = split[0];
String keyVals = split[1];
HashMap<String,String> values = new HashMap<String, String>();
for ( String kvp : keyVals.split(";") ) {
String[] kvp_split = kvp.split("=");
values.put(kvp_split[0],kvp_split[1]);
}
metaValues.put(sampleID,values);
}
}
} catch (FileNotFoundException e) {
throw new UserException("Meta data file not found: "+metaDataFile.getAbsolutePath(),e);
}
return metaValues;
}
} }

37
public/java/src/org/broadinstitute/sting/utils/BaseUtils.java
View File

@ -1,5 +1,6 @@
package org.broadinstitute.sting.utils; package org.broadinstitute.sting.utils;
import net.sf.samtools.util.StringUtil;
import org.broadinstitute.sting.gatk.GenomeAnalysisEngine; import org.broadinstitute.sting.gatk.GenomeAnalysisEngine;
import java.util.Arrays; import java.util.Arrays;
@ -227,14 +228,21 @@ public class BaseUtils {
} }
@Deprecated @Deprecated
static public boolean isRegularBase(char base) { static public boolean isRegularBase( final char base ) {
return simpleBaseToBaseIndex(base) != -1; return simpleBaseToBaseIndex(base) != -1;
} }
static public boolean isRegularBase(byte base) { static public boolean isRegularBase( final byte base ) {
return simpleBaseToBaseIndex(base) != -1; return simpleBaseToBaseIndex(base) != -1;
} }
static public boolean isAllRegularBases( final byte[] bases ) {
for( final byte base : bases) {
if( !isRegularBase(base) ) { return false; }
}
return true;
}
static public boolean isNBase(byte base) { static public boolean isNBase(byte base) {
return base == 'N' || base == 'n'; return base == 'N' || base == 'n';
} }
@ -437,29 +445,8 @@ public class BaseUtils {
* @param bases the bases * @param bases the bases
* @return the upper cased version * @return the upper cased version
*/ */
static public byte[] convertToUpperCase(final byte[] bases) { static public void convertToUpperCase(final byte[] bases) {
for ( int i = 0; i < bases.length; i++ ) { StringUtil.toUpperCase(bases);
if ( (char)bases[i] >= 'a' )
bases[i] = toUpperCaseBase(bases[i]);
}
return bases;
}
static public byte toUpperCaseBase(final byte base) {
switch (base) {
case 'a':
return 'A';
case 'c':
return 'C';
case 'g':
return 'G';
case 't':
return 'T';
case 'n':
return 'N';
default:
return base;
}
} }
/** /**

18
public/java/src/org/broadinstitute/sting/utils/Haplotype.java
View File

@ -55,22 +55,22 @@ public class Haplotype {
* @param bases bases * @param bases bases
* @param qual qual * @param qual qual
*/ */
public Haplotype(byte[] bases, int qual) { public Haplotype( final byte[] bases, final int qual ) {
this.bases = bases; this.bases = bases.clone();
quals = new double[bases.length]; quals = new double[bases.length];
Arrays.fill(quals, (double)qual); Arrays.fill(quals, (double)qual);
} }
public Haplotype(byte[] bases, double[] quals) { public Haplotype( final byte[] bases, final double[] quals ) {
this.bases = bases; this.bases = bases.clone();
this.quals = quals; this.quals = quals.clone();
} }
public Haplotype(byte[] bases) { public Haplotype( final byte[] bases ) {
this(bases, 0); this(bases, 0);
} }
public Haplotype(byte[] bases, GenomeLoc loc) { public Haplotype( final byte[] bases, final GenomeLoc loc ) {
this(bases); this(bases);
this.genomeLocation = loc; this.genomeLocation = loc;
} }
@ -140,10 +140,10 @@ public class Haplotype {
} }
public double[] getQuals() { public double[] getQuals() {
return quals; return quals.clone();
} }
public byte[] getBases() { public byte[] getBases() {
return bases; return bases.clone();
} }
public long getStartPosition() { public long getStartPosition() {

5
public/java/src/org/broadinstitute/sting/utils/MannWhitneyU.java
View File

@ -11,6 +11,7 @@ import org.broadinstitute.sting.gatk.GenomeAnalysisEngine;
import org.broadinstitute.sting.utils.collections.Pair; import org.broadinstitute.sting.utils.collections.Pair;
import org.broadinstitute.sting.utils.exceptions.StingException; import org.broadinstitute.sting.utils.exceptions.StingException;
import java.io.Serializable;
import java.util.Comparator; import java.util.Comparator;
import java.util.TreeSet; import java.util.TreeSet;
@ -434,12 +435,14 @@ public class MannWhitneyU {
* A comparator class which uses dithering on tie-breaking to ensure that the internal treeset drops no values * A comparator class which uses dithering on tie-breaking to ensure that the internal treeset drops no values
* and to ensure that rank ties are broken at random. * and to ensure that rank ties are broken at random.
*/ */
private class DitheringComparator implements Comparator<Pair<Number,USet>> { private static class DitheringComparator implements Comparator<Pair<Number,USet>>, Serializable {
public DitheringComparator() {} public DitheringComparator() {}
@Override
public boolean equals(Object other) { return false; } public boolean equals(Object other) { return false; }
@Override
public int compare(Pair<Number,USet> left, Pair<Number,USet> right) { public int compare(Pair<Number,USet> left, Pair<Number,USet> right) {
double comp = Double.compare(left.first.doubleValue(),right.first.doubleValue()); double comp = Double.compare(left.first.doubleValue(),right.first.doubleValue());
if ( comp > 0 ) { return 1; } if ( comp > 0 ) { return 1; }

22
public/java/src/org/broadinstitute/sting/utils/MathUtils.java
View File

@ -625,6 +625,10 @@ public class MathUtils {
return maxElementIndex(array, array.length); return maxElementIndex(array, array.length);
} }
public static int maxElementIndex(final byte[] array) {
return maxElementIndex(array, array.length);
}
public static int maxElementIndex(final int[] array, int endIndex) { public static int maxElementIndex(final int[] array, int endIndex) {
if (array == null || array.length == 0) if (array == null || array.length == 0)
throw new IllegalArgumentException("Array cannot be null!"); throw new IllegalArgumentException("Array cannot be null!");
@ -638,6 +642,24 @@ public class MathUtils {
return maxI; return maxI;
} }
public static int maxElementIndex(final byte[] array, int endIndex) {
if (array == null || array.length == 0)
throw new IllegalArgumentException("Array cannot be null!");
int maxI = 0;
for (int i = 1; i < endIndex; i++) {
if (array[i] > array[maxI])
maxI = i;
}
return maxI;
}
public static byte arrayMax(final byte[] array) {
return array[maxElementIndex(array)];
}
public static double arrayMax(final double[] array) { public static double arrayMax(final double[] array) {
return array[maxElementIndex(array)]; return array[maxElementIndex(array)];
} }

35
public/java/src/org/broadinstitute/sting/utils/activeregion/ActiveRegion.java
View File

@ -1,6 +1,7 @@
package org.broadinstitute.sting.utils.activeregion; package org.broadinstitute.sting.utils.activeregion;
import net.sf.picard.reference.IndexedFastaSequenceFile; import net.sf.picard.reference.IndexedFastaSequenceFile;
import net.sf.samtools.util.StringUtil;
import org.broadinstitute.sting.utils.GenomeLoc; import org.broadinstitute.sting.utils.GenomeLoc;
import org.broadinstitute.sting.utils.GenomeLocParser; import org.broadinstitute.sting.utils.GenomeLocParser;
import org.broadinstitute.sting.utils.HasGenomeLocation; import org.broadinstitute.sting.utils.HasGenomeLocation;
@ -15,7 +16,7 @@ import java.util.ArrayList;
* Date: 1/4/12 * Date: 1/4/12
*/ */
public class ActiveRegion implements HasGenomeLocation, Comparable<ActiveRegion> { public class ActiveRegion implements HasGenomeLocation {
private final ArrayList<GATKSAMRecord> reads = new ArrayList<GATKSAMRecord>(); private final ArrayList<GATKSAMRecord> reads = new ArrayList<GATKSAMRecord>();
private final GenomeLoc activeRegionLoc; private final GenomeLoc activeRegionLoc;
@ -58,9 +59,7 @@ public class ActiveRegion implements HasGenomeLocation, Comparable<ActiveRegion>
} }
public byte[] getActiveRegionReference( final IndexedFastaSequenceFile referenceReader, final int padding ) { public byte[] getActiveRegionReference( final IndexedFastaSequenceFile referenceReader, final int padding ) {
return referenceReader.getSubsequenceAt( extendedLoc.getContig(), return getReference( referenceReader, padding, extendedLoc );
Math.max(1, extendedLoc.getStart() - padding),
Math.min(referenceReader.getSequenceDictionary().getSequence(extendedLoc.getContig()).getSequenceLength(), extendedLoc.getStop() + padding) ).getBases();
} }
public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader ) { public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader ) {
@ -68,14 +67,15 @@ public class ActiveRegion implements HasGenomeLocation, Comparable<ActiveRegion>
} }
public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader, final int padding ) { public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader, final int padding ) {
return referenceReader.getSubsequenceAt( fullExtentReferenceLoc.getContig(), return getReference( referenceReader, padding, fullExtentReferenceLoc );
Math.max(1, fullExtentReferenceLoc.getStart() - padding),
Math.min(referenceReader.getSequenceDictionary().getSequence(fullExtentReferenceLoc.getContig()).getSequenceLength(), fullExtentReferenceLoc.getStop() + padding) ).getBases();
} }
@Override private byte[] getReference( final IndexedFastaSequenceFile referenceReader, final int padding, final GenomeLoc genomeLoc ) {
public int compareTo( final ActiveRegion other ) { final byte[] reference = referenceReader.getSubsequenceAt( genomeLoc.getContig(),
return this.getLocation().compareTo(other.getLocation()); Math.max(1, genomeLoc.getStart() - padding),
Math.min(referenceReader.getSequenceDictionary().getSequence(genomeLoc.getContig()).getSequenceLength(), genomeLoc.getStop() + padding) ).getBases();
StringUtil.toUpperCase(reference);
return reference;
} }
@Override @Override
@ -97,4 +97,19 @@ public class ActiveRegion implements HasGenomeLocation, Comparable<ActiveRegion>
if ( extendedLoc.compareTo(other.extendedLoc) != 0 ) return false; if ( extendedLoc.compareTo(other.extendedLoc) != 0 ) return false;
return true; return true;
} }
/**
* A comparator class which is used to sort ActiveRegions by their start location
*/
/*
public static class ActiveRegionStartLocationComparator implements Comparator<ActiveRegion> {
public ActiveRegionStartLocationComparator() {}
@Override
public int compare(final ActiveRegion left, final ActiveRegion right) {
return left.getLocation().compareTo(right.getLocation());
}
}
*/
} }

2
public/java/src/org/broadinstitute/sting/utils/variantcontext/Allele.java
View File

@ -105,7 +105,7 @@ public class Allele implements Comparable<Allele> {
if ( isRef ) throw new IllegalArgumentException("Cannot tag a symbolic allele as the reference allele"); if ( isRef ) throw new IllegalArgumentException("Cannot tag a symbolic allele as the reference allele");
} }
else { else {
bases = BaseUtils.convertToUpperCase(bases); BaseUtils.convertToUpperCase(bases);
} }
this.isRef = isRef; this.isRef = isRef;

25
public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContext.java
View File

@ -1,5 +1,6 @@
package org.broadinstitute.sting.utils.variantcontext; package org.broadinstitute.sting.utils.variantcontext;
import org.apache.commons.math.stat.descriptive.rank.Max;
import org.apache.log4j.Logger; import org.apache.log4j.Logger;
import org.broad.tribble.Feature; import org.broad.tribble.Feature;
import org.broad.tribble.TribbleException; import org.broad.tribble.TribbleException;
@ -178,9 +179,8 @@ import java.util.*;
*/ */
public class VariantContext implements Feature { // to enable tribble integration public class VariantContext implements Feature { // to enable tribble integration
private final static boolean WARN_ABOUT_BAD_END = true; private final static boolean WARN_ABOUT_BAD_END = true;
private final static long MAX_ALLELE_SIZE_FOR_NON_SV = 150;
final protected static Logger logger = Logger.getLogger(VariantContext.class); final protected static Logger logger = Logger.getLogger(VariantContext.class);
private boolean fullyDecoded = false; private boolean fullyDecoded = false;
protected CommonInfo commonInfo = null; protected CommonInfo commonInfo = null;
public final static double NO_LOG10_PERROR = CommonInfo.NO_LOG10_PERROR; public final static double NO_LOG10_PERROR = CommonInfo.NO_LOG10_PERROR;
@ -458,6 +458,7 @@ public class VariantContext implements Feature { // to enable tribble integratio
SNP, SNP,
MNP, // a multi-nucleotide polymorphism MNP, // a multi-nucleotide polymorphism
INDEL, INDEL,
STRUCTURAL_INDEL,
SYMBOLIC, SYMBOLIC,
MIXED, MIXED,
} }
@ -530,6 +531,18 @@ public class VariantContext implements Feature { // to enable tribble integratio
return getType() == Type.SYMBOLIC; return getType() == Type.SYMBOLIC;
} }
public boolean isStructuralIndel() {
return getType() == Type.STRUCTURAL_INDEL;
}
/**
*
* @return true if the variant is symbolic or a large indel
*/
public boolean isSymbolicOrSV() {
return isSymbolic() || isStructuralIndel();
}
public boolean isMNP() { public boolean isMNP() {
return getType() == Type.MNP; return getType() == Type.MNP;
} }
@ -1250,6 +1263,14 @@ public class VariantContext implements Feature { // to enable tribble integratio
// performs a pairwise comparison of a single alternate allele against the reference allele (whereas the MIXED type // performs a pairwise comparison of a single alternate allele against the reference allele (whereas the MIXED type
// is reserved for cases of multiple alternate alleles of different types). Therefore, if we've reached this point // is reserved for cases of multiple alternate alleles of different types). Therefore, if we've reached this point
// in the code (so we're not a SNP, MNP, or symbolic allele), we absolutely must be an INDEL. // in the code (so we're not a SNP, MNP, or symbolic allele), we absolutely must be an INDEL.
// Because a number of structural variation callers write the whole alternate allele into the VCF where possible,
// this can result in insertion/deletion alleles of structural variant size, e.g. 151+. As of July 2012, we now
// classify these as structural events, rather than indel events, as we think differently about the mechanism,
// representation, and handling of these events. Check for this case here:
if ( ref.length() > MAX_ALLELE_SIZE_FOR_NON_SV || allele.length() > MAX_ALLELE_SIZE_FOR_NON_SV )
return Type.STRUCTURAL_INDEL;
return Type.INDEL; return Type.INDEL;
// old incorrect logic: // old incorrect logic:

1
public/java/src/org/broadinstitute/sting/utils/variantcontext/VariantContextBuilder.java
View File

@ -94,6 +94,7 @@ public class VariantContextBuilder {
this.start = start; this.start = start;
this.stop = stop; this.stop = stop;
this.alleles = alleles; this.alleles = alleles;
this.attributes = Collections.emptyMap(); // immutable
toValidate.add(VariantContext.Validation.ALLELES); toValidate.add(VariantContext.Validation.ALLELES);
} }

64
public/java/test/org/broadinstitute/sting/gatk/iterators/LocusIteratorByStateUnitTest.java
View File

@ -104,7 +104,7 @@ public class LocusIteratorByStateUnitTest extends BaseTest {
after.setBaseQualities(new byte[] {20,20,20,20,20,20,20,20,20,20}); after.setBaseQualities(new byte[] {20,20,20,20,20,20,20,20,20,20});
after.setCigarString("10M"); after.setCigarString("10M");
List<SAMRecord> reads = Arrays.asList(before,during,after); List<SAMRecord> reads = Arrays.asList(before, during, after);
// create the iterator by state with the fake reads and fake records // create the iterator by state with the fake reads and fake records
li = makeLTBS(reads,readAttributes); li = makeLTBS(reads,readAttributes);
@ -134,9 +134,9 @@ public class LocusIteratorByStateUnitTest extends BaseTest {
// create a test version of the Reads object // create a test version of the Reads object
ReadProperties readAttributes = createTestReadProperties(); ReadProperties readAttributes = createTestReadProperties();
SAMRecord indelOnlyRead = ArtificialSAMUtils.createArtificialRead(header,"indelOnly",0,firstLocus,76); SAMRecord indelOnlyRead = ArtificialSAMUtils.createArtificialRead(header, "indelOnly", 0, firstLocus, 76);
indelOnlyRead.setReadBases(Utils.dupBytes((byte)'A',76)); indelOnlyRead.setReadBases(Utils.dupBytes((byte)'A',76));
indelOnlyRead.setBaseQualities(Utils.dupBytes((byte)'@',76)); indelOnlyRead.setBaseQualities(Utils.dupBytes((byte) '@', 76));
indelOnlyRead.setCigarString("76I"); indelOnlyRead.setCigarString("76I");
List<SAMRecord> reads = Arrays.asList(indelOnlyRead); List<SAMRecord> reads = Arrays.asList(indelOnlyRead);
@ -148,10 +148,10 @@ public class LocusIteratorByStateUnitTest extends BaseTest {
// and considers it to be an indel-containing read. // and considers it to be an indel-containing read.
Assert.assertTrue(li.hasNext(),"Should have found a whole-indel read in the normal base pileup without extended events enabled"); Assert.assertTrue(li.hasNext(),"Should have found a whole-indel read in the normal base pileup without extended events enabled");
AlignmentContext alignmentContext = li.next(); AlignmentContext alignmentContext = li.next();
Assert.assertEquals(alignmentContext.getLocation().getStart(),firstLocus,"Base pileup is at incorrect location."); Assert.assertEquals(alignmentContext.getLocation().getStart(), firstLocus, "Base pileup is at incorrect location.");
ReadBackedPileup basePileup = alignmentContext.getBasePileup(); ReadBackedPileup basePileup = alignmentContext.getBasePileup();
Assert.assertEquals(basePileup.getReads().size(),1,"Pileup is of incorrect size"); Assert.assertEquals(basePileup.getReads().size(),1,"Pileup is of incorrect size");
Assert.assertSame(basePileup.getReads().get(0),indelOnlyRead,"Read in pileup is incorrect"); Assert.assertSame(basePileup.getReads().get(0), indelOnlyRead, "Read in pileup is incorrect");
} }
/** /**
@ -168,7 +168,7 @@ public class LocusIteratorByStateUnitTest extends BaseTest {
leadingRead.setCigarString("1M75I"); leadingRead.setCigarString("1M75I");
SAMRecord indelOnlyRead = ArtificialSAMUtils.createArtificialRead(header,"indelOnly",0,secondLocus,76); SAMRecord indelOnlyRead = ArtificialSAMUtils.createArtificialRead(header,"indelOnly",0,secondLocus,76);
indelOnlyRead.setReadBases(Utils.dupBytes((byte)'A',76)); indelOnlyRead.setReadBases(Utils.dupBytes((byte) 'A', 76));
indelOnlyRead.setBaseQualities(Utils.dupBytes((byte)'@',76)); indelOnlyRead.setBaseQualities(Utils.dupBytes((byte)'@',76));
indelOnlyRead.setCigarString("76I"); indelOnlyRead.setCigarString("76I");
@ -177,7 +177,7 @@ public class LocusIteratorByStateUnitTest extends BaseTest {
fullMatchAfterIndel.setBaseQualities(Utils.dupBytes((byte)'@',76)); fullMatchAfterIndel.setBaseQualities(Utils.dupBytes((byte)'@',76));
fullMatchAfterIndel.setCigarString("75I1M"); fullMatchAfterIndel.setCigarString("75I1M");
List<SAMRecord> reads = Arrays.asList(leadingRead,indelOnlyRead,fullMatchAfterIndel); List<SAMRecord> reads = Arrays.asList(leadingRead, indelOnlyRead, fullMatchAfterIndel);
// create the iterator by state with the fake reads and fake records // create the iterator by state with the fake reads and fake records
li = makeLTBS(reads, createTestReadProperties()); li = makeLTBS(reads, createTestReadProperties());
@ -204,7 +204,55 @@ public class LocusIteratorByStateUnitTest extends BaseTest {
numAlignmentContextsFound++; numAlignmentContextsFound++;
} }
Assert.assertEquals(numAlignmentContextsFound,2,"Found incorrect number of alignment contexts"); Assert.assertEquals(numAlignmentContextsFound, 2, "Found incorrect number of alignment contexts");
}
/**
* Test to make sure that reads supporting only an indel (example cigar string: 76I) are represented properly
*/
@Test
public void testWholeIndelReadRepresentedTest() {
final int firstLocus = 44367788, secondLocus = firstLocus + 1;
SAMRecord read1 = ArtificialSAMUtils.createArtificialRead(header,"read1",0,secondLocus,1);
read1.setReadBases(Utils.dupBytes((byte) 'A', 1));
read1.setBaseQualities(Utils.dupBytes((byte) '@', 1));
read1.setCigarString("1I");
List<SAMRecord> reads = Arrays.asList(read1);
// create the iterator by state with the fake reads and fake records
li = makeLTBS(reads, createTestReadProperties());
while(li.hasNext()) {
AlignmentContext alignmentContext = li.next();
ReadBackedPileup p = alignmentContext.getBasePileup();
Assert.assertTrue(p.getNumberOfElements() == 1);
PileupElement pe = p.iterator().next();
Assert.assertTrue(pe.isBeforeInsertion());
Assert.assertFalse(pe.isAfterInsertion());
Assert.assertEquals(pe.getEventBases(), "A");
}
SAMRecord read2 = ArtificialSAMUtils.createArtificialRead(header,"read2",0,secondLocus,10);
read2.setReadBases(Utils.dupBytes((byte) 'A', 10));
read2.setBaseQualities(Utils.dupBytes((byte) '@', 10));
read2.setCigarString("10I");
reads = Arrays.asList(read2);
// create the iterator by state with the fake reads and fake records
li = makeLTBS(reads, createTestReadProperties());
while(li.hasNext()) {
AlignmentContext alignmentContext = li.next();
ReadBackedPileup p = alignmentContext.getBasePileup();
Assert.assertTrue(p.getNumberOfElements() == 1);
PileupElement pe = p.iterator().next();
Assert.assertTrue(pe.isBeforeInsertion());
Assert.assertFalse(pe.isAfterInsertion());
Assert.assertEquals(pe.getEventBases(), "AAAAAAAAAA");
}
} }
private static ReadProperties createTestReadProperties() { private static ReadProperties createTestReadProperties() {

10
public/java/test/org/broadinstitute/sting/gatk/walkers/annotator/VariantAnnotatorIntegrationTest.java
View File

@ -32,7 +32,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
public void testHasAnnotsAsking1() { public void testHasAnnotsAsking1() {
WalkerTestSpec spec = new WalkerTestSpec( WalkerTestSpec spec = new WalkerTestSpec(
baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1,
Arrays.asList("95b0627bfcac2191aed9908904e892ff")); Arrays.asList("4a0318d0452d2dccde48ef081c431bf8"));
executeTest("test file has annotations, asking for annotations, #1", spec); executeTest("test file has annotations, asking for annotations, #1", spec);
} }
@ -40,7 +40,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
public void testHasAnnotsAsking2() { public void testHasAnnotsAsking2() {
WalkerTestSpec spec = new WalkerTestSpec( WalkerTestSpec spec = new WalkerTestSpec(
baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1,
Arrays.asList("0e2509349fd6c8a9e9408c918215e1de")); Arrays.asList("da19c8e3c58340ba8bcc88e95ece4ac1"));
executeTest("test file has annotations, asking for annotations, #2", spec); executeTest("test file has annotations, asking for annotations, #2", spec);
} }
@ -66,7 +66,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
public void testNoAnnotsAsking1() { public void testNoAnnotsAsking1() {
WalkerTestSpec spec = new WalkerTestSpec( WalkerTestSpec spec = new WalkerTestSpec(
baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1, baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1,
Arrays.asList("32d81a7797605afb526983a2ab45efc2")); Arrays.asList("cdefe79f46482a3d050ca2132604663a"));
executeTest("test file doesn't have annotations, asking for annotations, #1", spec); executeTest("test file doesn't have annotations, asking for annotations, #1", spec);
} }
@ -74,7 +74,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
public void testNoAnnotsAsking2() { public void testNoAnnotsAsking2() {
WalkerTestSpec spec = new WalkerTestSpec( WalkerTestSpec spec = new WalkerTestSpec(
baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1, baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1,
Arrays.asList("350539ccecea0d1f7fffd4ac29c015e7")); Arrays.asList("5ec4c07b6801fca7013e3b0beb8b5418"));
executeTest("test file doesn't have annotations, asking for annotations, #2", spec); executeTest("test file doesn't have annotations, asking for annotations, #2", spec);
} }
@ -90,7 +90,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
public void testOverwritingHeader() { public void testOverwritingHeader() {
WalkerTestSpec spec = new WalkerTestSpec( WalkerTestSpec spec = new WalkerTestSpec(
baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample4.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,001,292", 1, baseTestString() + " -G Standard --variant " + privateTestDir + "vcfexample4.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,001,292", 1,
Arrays.asList("c222361819fae035a0162f876990fdee")); Arrays.asList("28c07151f5c5fae87c691d8f7d1a3929"));
executeTest("test overwriting header", spec); executeTest("test overwriting header", spec);
} }

2
public/java/test/org/broadinstitute/sting/gatk/walkers/coverage/DepthOfCoverageIntegrationTest.java
View File

@ -9,7 +9,7 @@ import java.util.Arrays;
import java.util.List; import java.util.List;
/** /**
* IF THERE IS NO JAVADOC RIGHT HERE, YELL AT chartl * Integration tests for the Depth of Coverage walker
* *
* @Author chartl * @Author chartl
* @Date Feb 25, 2010 * @Date Feb 25, 2010

62
public/java/test/org/broadinstitute/sting/gatk/walkers/genotyper/UnifiedGenotyperIntegrationTest.java
View File

@ -28,7 +28,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testMultiSamplePilot1() { public void testMultiSamplePilot1() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000", 1, baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000", 1,
Arrays.asList("0039fd0464c87e6ce66c4c8670fd8dfa")); Arrays.asList("9a7fa3e9ec8350e3e9cfdce0c00ddcc3"));
executeTest("test MultiSample Pilot1", spec); executeTest("test MultiSample Pilot1", spec);
} }
@ -36,7 +36,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testWithAllelesPassedIn1() { public void testWithAllelesPassedIn1() {
WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec(
baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1,
Arrays.asList("d1e68d4db6585ec00213b1d2d05e01a9")); Arrays.asList("78693f3bf5d588e250507a596aa400da"));
executeTest("test MultiSample Pilot2 with alleles passed in", spec1); executeTest("test MultiSample Pilot2 with alleles passed in", spec1);
} }
@ -44,7 +44,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testWithAllelesPassedIn2() { public void testWithAllelesPassedIn2() {
WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec(
baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1, baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1,
Arrays.asList("b53860d209f8440f12b78d01606553e1")); Arrays.asList("babf24ec8e5b5708d4a049629f7ea073"));
executeTest("test MultiSample Pilot2 with alleles passed in and emitting all sites", spec2); executeTest("test MultiSample Pilot2 with alleles passed in and emitting all sites", spec2);
} }
@ -52,7 +52,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testSingleSamplePilot2() { public void testSingleSamplePilot2() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1, baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1,
Arrays.asList("61007c22c00a2871237280914a8f88f0")); Arrays.asList("754187e70c1d117087e2270950a1c230"));
executeTest("test SingleSample Pilot2", spec); executeTest("test SingleSample Pilot2", spec);
} }
@ -60,7 +60,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testMultipleSNPAlleles() { public void testMultipleSNPAlleles() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
"-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm BOTH --dbsnp " + b37dbSNP129 + " -I " + privateTestDir + "multiallelic.snps.bam -o %s -L " + privateTestDir + "multiallelic.snps.intervals", 1, "-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm BOTH --dbsnp " + b37dbSNP129 + " -I " + privateTestDir + "multiallelic.snps.bam -o %s -L " + privateTestDir + "multiallelic.snps.intervals", 1,
Arrays.asList("feda4a38bba096f7b740a146055509c2")); Arrays.asList("f9a2f882d050a90e6d8e6a1fba00f858"));
executeTest("test Multiple SNP alleles", spec); executeTest("test Multiple SNP alleles", spec);
} }
@ -76,7 +76,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testReverseTrim() { public void testReverseTrim() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
"-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm INDEL -I " + validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam -o %s -L 20:10289124 -L 20:10090289", 1, "-T UnifiedGenotyper -R " + b37KGReference + " -nosl --no_cmdline_in_header -glm INDEL -I " + validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam -o %s -L 20:10289124 -L 20:10090289", 1,
Arrays.asList("0ff525e65c5836289c454c76ead5d80e")); Arrays.asList("8a4ad38ec8015eea3461295148143428"));
executeTest("test reverse trim", spec); executeTest("test reverse trim", spec);
} }
@ -86,7 +86,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
// //
// -------------------------------------------------------------------------------------------------------------- // --------------------------------------------------------------------------------------------------------------
private final static String COMPRESSED_OUTPUT_MD5 = "e1a17f8f852c3d639f26e659d37bc1e5"; private final static String COMPRESSED_OUTPUT_MD5 = "ebb42960e115fb8dacd3edff5541b4da";
@Test @Test
public void testCompressedOutput() { public void testCompressedOutput() {
@ -139,7 +139,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testMinBaseQualityScore() { public void testMinBaseQualityScore() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 --min_base_quality_score 26", 1, baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 --min_base_quality_score 26", 1,
Arrays.asList("b0b92abbaaa4c787dce6f1b302f983ee")); Arrays.asList("91f7e112200ed2c3b0a5d0d9e16e9369"));
executeTest("test min_base_quality_score 26", spec); executeTest("test min_base_quality_score 26", spec);
} }
@ -147,7 +147,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testSLOD() { public void testSLOD() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
"-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH --dbsnp " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH --dbsnp " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1,
Arrays.asList("186d33429756c89aad6cd89424d6dc94")); Arrays.asList("b86e52b18496ab43a6b9a1bda632b5e6"));
executeTest("test SLOD", spec); executeTest("test SLOD", spec);
} }
@ -155,7 +155,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testNDA() { public void testNDA() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
baseCommand + " --annotateNDA -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, baseCommand + " --annotateNDA -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1,
Arrays.asList("11b87f68b8530da168c1418513115f30")); Arrays.asList("79b3e4f8b4476ce3c3acbc271d6ddcdc"));
executeTest("test NDA", spec); executeTest("test NDA", spec);
} }
@ -163,23 +163,23 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testCompTrack() { public void testCompTrack() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
"-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH -comp:FOO " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1, "-T UnifiedGenotyper -R " + b36KGReference + " --no_cmdline_in_header -glm BOTH -comp:FOO " + b36dbSNP129 + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000", 1,
Arrays.asList("d2be4b1af1f29579c4f96c08e1ddd871")); Arrays.asList("bf7f21a600956eda0a357b97b21e3069"));
executeTest("test using comp track", spec); executeTest("test using comp track", spec);
} }
@Test @Test
public void testOutputParameterSitesOnly() { public void testOutputParameterSitesOnly() {
testOutputParameters("-sites_only", "0055bd060e6ef53a6b836903d68953c9"); testOutputParameters("-sites_only", "976109543d8d97d94e0fe0521ff326e8");
} }
@Test @Test
public void testOutputParameterAllConfident() { public void testOutputParameterAllConfident() {
testOutputParameters("--output_mode EMIT_ALL_CONFIDENT_SITES", "235bec0a7b2d901442261104db18f5eb"); testOutputParameters("--output_mode EMIT_ALL_CONFIDENT_SITES", "8084a847f4a3c53a030e8c52eec35cea");
} }
@Test @Test
public void testOutputParameterAllSites() { public void testOutputParameterAllSites() {
testOutputParameters("--output_mode EMIT_ALL_SITES", "7c57ede7019063c19aa9d2136045d84f"); testOutputParameters("--output_mode EMIT_ALL_SITES", "931e396f2a6903a291e813c64c18f8b5");
} }
private void testOutputParameters(final String args, final String md5) { private void testOutputParameters(final String args, final String md5) {
@ -193,7 +193,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testConfidence() { public void testConfidence() {
WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec(
baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_call_conf 10 ", 1, baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_call_conf 10 ", 1,
Arrays.asList("3f8d724a5158adac4df38c4e2ed04167")); Arrays.asList("e94be02fc5484c20b512840884e3d463"));
executeTest("test confidence 1", spec1); executeTest("test confidence 1", spec1);
} }
@ -201,7 +201,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testConfidence2() { public void testConfidence2() {
WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec(
baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_emit_conf 10 ", 1, baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_emit_conf 10 ", 1,
Arrays.asList("3f8d724a5158adac4df38c4e2ed04167")); Arrays.asList("e94be02fc5484c20b512840884e3d463"));
executeTest("test confidence 2", spec2); executeTest("test confidence 2", spec2);
} }
@ -212,12 +212,12 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
// -------------------------------------------------------------------------------------------------------------- // --------------------------------------------------------------------------------------------------------------
@Test @Test
public void testHeterozyosity1() { public void testHeterozyosity1() {
testHeterozosity( 0.01, "7e7384a3a52e19f76f368c2f4561d510" ); testHeterozosity( 0.01, "0dca2699f709793026b853c6f339bf08" );
} }
@Test @Test
public void testHeterozyosity2() { public void testHeterozyosity2() {
testHeterozosity( 1.0 / 1850, "3d16366d870c086e894c07c9da411795" ); testHeterozosity( 1.0 / 1850, "35f14e436927e64712a8e28080e90c91" );
} }
private void testHeterozosity(final double arg, final String md5) { private void testHeterozosity(final double arg, final String md5) {
@ -241,7 +241,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
" -o %s" + " -o %s" +
" -L 1:10,000,000-10,100,000", " -L 1:10,000,000-10,100,000",
1, 1,
Arrays.asList("58abc4f504d3afd42271e290ac846c4b")); Arrays.asList("0360b79163aa28ae66d0dde4c26b3d76"));
executeTest(String.format("test multiple technologies"), spec); executeTest(String.format("test multiple technologies"), spec);
} }
@ -260,7 +260,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
" -L 1:10,000,000-10,100,000" + " -L 1:10,000,000-10,100,000" +
" -baq CALCULATE_AS_NECESSARY", " -baq CALCULATE_AS_NECESSARY",
1, 1,
Arrays.asList("e247f579f01eb698cfa1ae1e8a3995a8")); Arrays.asList("59892388916bdfa544750ab76e43eabb"));
executeTest(String.format("test calling with BAQ"), spec); executeTest(String.format("test calling with BAQ"), spec);
} }
@ -279,7 +279,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
" -o %s" + " -o %s" +
" -L 1:10,000,000-10,500,000", " -L 1:10,000,000-10,500,000",
1, 1,
Arrays.asList("cc2167dce156f70f5a31ac3dce499266")); Arrays.asList("6aa034f669ec09ac4f5a28624cbe1830"));
executeTest(String.format("test indel caller in SLX"), spec); executeTest(String.format("test indel caller in SLX"), spec);
} }
@ -294,7 +294,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
" -minIndelCnt 1" + " -minIndelCnt 1" +
" -L 1:10,000,000-10,100,000", " -L 1:10,000,000-10,100,000",
1, 1,
Arrays.asList("1268bde77842e6bb6a4f337c1d589f4d")); Arrays.asList("ba7a011d0c665acc4455d58a6ab28716"));
executeTest(String.format("test indel caller in SLX with low min allele count"), spec); executeTest(String.format("test indel caller in SLX with low min allele count"), spec);
} }
@ -307,7 +307,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
" -o %s" + " -o %s" +
" -L 1:10,000,000-10,500,000", " -L 1:10,000,000-10,500,000",
1, 1,
Arrays.asList("10c86ff98ad5ab800d208b435bcfbd7d")); Arrays.asList("4f7d80f4f53ef0f0959414cb30097482"));
executeTest(String.format("test indel calling, multiple technologies"), spec); executeTest(String.format("test indel calling, multiple technologies"), spec);
} }
@ -317,7 +317,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation +
"pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1,
Arrays.asList("c0c4dbb050296633a3150b104b77e05a")); Arrays.asList("95986d0c92436d3b9c1f1be9c768a368"));
executeTest("test MultiSample Pilot2 indels with alleles passed in", spec); executeTest("test MultiSample Pilot2 indels with alleles passed in", spec);
} }
@ -327,7 +327,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
baseCommandIndels + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " baseCommandIndels + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles "
+ privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation + + privateTestDir + "indelAllelesForUG.vcf -I " + validationDataLocation +
"pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1, "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1,
Arrays.asList("2472722f87f8718861698f60bbba2462")); Arrays.asList("cecd3e35a817e299e97e8f7bbf083d2c"));
executeTest("test MultiSample Pilot2 indels with alleles passed in and emitting all sites", spec); executeTest("test MultiSample Pilot2 indels with alleles passed in and emitting all sites", spec);
} }
@ -335,13 +335,13 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testMultiSampleIndels1() { public void testMultiSampleIndels1() {
WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec(
baseCommandIndels + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, baseCommandIndels + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1,
Arrays.asList("eeb64b261f0a44aa478d753dbbf9378e")); Arrays.asList("c3f786a5228346b43a80aa80d22b1490"));
List<File> result = executeTest("test MultiSample Pilot1 CEU indels", spec1).getFirst(); List<File> result = executeTest("test MultiSample Pilot1 CEU indels", spec1).getFirst();
WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec(
baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + result.get(0).getAbsolutePath() + " -I " + validationDataLocation + baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -alleles " + result.get(0).getAbsolutePath() + " -I " + validationDataLocation +
"low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1, "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10450700-10551000", 1,
Arrays.asList("d0a66c234056bb83dd84113bc2421f1e")); Arrays.asList("1a4d856bfe53d9acee0ea303c4b83bb1"));
executeTest("test MultiSample Pilot1 CEU indels using GENOTYPE_GIVEN_ALLELES", spec2); executeTest("test MultiSample Pilot1 CEU indels using GENOTYPE_GIVEN_ALLELES", spec2);
} }
@ -351,7 +351,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
baseCommandIndelsb37 + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -out_mode EMIT_ALL_SITES -alleles " + privateTestDir + vcf + " -I " + validationDataLocation + 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, "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam -o %s -L " + validationDataLocation + vcf, 1,
Arrays.asList("db0f91abb901e097714d8755058e1319")); Arrays.asList("d76eacc4021b78ccc0a9026162e814a7"));
executeTest("test GENOTYPE_GIVEN_ALLELES with no evidence in reads", spec); executeTest("test GENOTYPE_GIVEN_ALLELES with no evidence in reads", spec);
} }
@ -363,7 +363,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
" -o %s" + " -o %s" +
" -L 20:10,000,000-10,100,000", " -L 20:10,000,000-10,100,000",
1, 1,
Arrays.asList("b3c923ed9efa04b85fc18a9b45c8d2a6")); Arrays.asList("59ff26d7e5ca2503ebe9f74902251551"));
executeTest(String.format("test UG with base indel quality scores"), spec); executeTest(String.format("test UG with base indel quality scores"), spec);
} }
@ -397,7 +397,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testMinIndelFraction0() { public void testMinIndelFraction0() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
assessMinIndelFraction + " -minIndelFrac 0.0", 1, assessMinIndelFraction + " -minIndelFrac 0.0", 1,
Arrays.asList("160600dfa8e46f91dbb5d574517aac74")); Arrays.asList("f99f9a917529bfef717fad97f725d5df"));
executeTest("test minIndelFraction 0.0", spec); executeTest("test minIndelFraction 0.0", spec);
} }
@ -405,7 +405,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
public void testMinIndelFraction25() { public void testMinIndelFraction25() {
WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec( WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
assessMinIndelFraction + " -minIndelFrac 0.25", 1, assessMinIndelFraction + " -minIndelFrac 0.25", 1,
Arrays.asList("aa58dc9f77132c30363562bcdc321f6e")); Arrays.asList("eac2cd649bd5836068350eb4260aaea7"));
executeTest("test minIndelFraction 0.25", spec); executeTest("test minIndelFraction 0.25", spec);
} }

92
public/java/test/org/broadinstitute/sting/gatk/walkers/variantutils/VariantsToBinaryPedIntegrationTest.java 100644
View File

@ -0,0 +1,92 @@
package org.broadinstitute.sting.gatk.walkers.variantutils;
import org.broadinstitute.sting.WalkerTest;
import org.broadinstitute.sting.WalkerTest;
import org.broadinstitute.sting.utils.exceptions.UserException;
import org.testng.annotations.Test;
import org.testng.annotations.DataProvider;
import java.io.File;
import java.util.ArrayList;
import java.util.Arrays;
/**
* Created by IntelliJ IDEA.
* User: chartl
* Date: 8/20/12
* Time: 9:57 PM
* To change this template use File | Settings | File Templates.
*/
public class VariantsToBinaryPedIntegrationTest extends WalkerTest {
public static final String VTBP_DATA_DIR = "/humgen/gsa-hpprojects/GATK/data/Validation_Data/VariantsToBinaryPed/";
public static String baseTestString(String inputVCF, String inputMetaData, int gq) {
return "-T VariantsToBinaryPed -R " + b37KGReference +
" -V " + VTBP_DATA_DIR+inputVCF + " -m "+VTBP_DATA_DIR+inputMetaData + String.format(" -mgq %d",gq) +
" -bim %s -fam %s -bed %s";
}
@Test
public void testNA12878Alone() {
String testName = "testNA12878Alone";
WalkerTestSpec spec = new WalkerTestSpec(
baseTestString("NA12878.subset.vcf", "CEUTrio.NA12878.fam",10),
3,
Arrays.asList("411ef932095728bfa5e509c2c0e4cfa8","8e8bc0b5e69f22c54c0960f13c25d26c","02f1c462ebc8576e399d0e94f729fd95")
);
executeTest(testName, spec);
}
@Test
public void testNA12878AloneMetaData() {
String testName = "testNA12878AloneMetaData";
WalkerTestSpec spec = new WalkerTestSpec(
baseTestString("NA12878.subset.vcf", "CEUTrio.NA12878.metadata.txt",10),
3,
Arrays.asList("411ef932095728bfa5e509c2c0e4cfa8","7251ca4e8a515b698e7e7d25cff91978","02f1c462ebc8576e399d0e94f729fd95")
);
executeTest(testName, spec);
}
@Test
public void testCEUTrio() {
String testName = "testCEUTrio";
WalkerTestSpec spec = new WalkerTestSpec(
baseTestString("CEUTrio.subset.vcf", "CEUTrio.fam",10),
3,
Arrays.asList("59b93fbb4bb31309b3adc83ba96dd1a2","900f22c6d49a6ba0774466e99592e51d","7887d2e0bf605dbcd0688c552cdb99d5")
);
executeTest(testName, spec);
}
@Test
public void testCEUTrioMetaData() {
String testName = "testCEUTrioMetaData";
WalkerTestSpec spec = new WalkerTestSpec(
baseTestString("CEUTrio.subset.vcf", "CEUTrio.metadata.txt",10),
3,
Arrays.asList("59b93fbb4bb31309b3adc83ba96dd1a2","2113d2cc0a059e35b1565196b7c5d98f","7887d2e0bf605dbcd0688c552cdb99d5")
);
executeTest(testName, spec);
}
@Test
public void testMalformedFam() {
String testName = "testMalformedFam";
WalkerTestSpec spec = new WalkerTestSpec(
baseTestString("CEUTrio.subset.vcf", "CEUTrio.malformed.fam",10),
3,
UserException.class
);
executeTest(testName, spec);
}
}

4
public/java/test/org/broadinstitute/sting/utils/variantcontext/VariantContextUnitTest.java
View File

@ -750,6 +750,10 @@ public class VariantContextUnitTest extends BaseTest {
modified = new VariantContextBuilder(modified).attributes(null).attribute("AC", 1).make(); modified = new VariantContextBuilder(modified).attributes(null).attribute("AC", 1).make();
Assert.assertEquals(modified.getAttribute("AC"), 1); Assert.assertEquals(modified.getAttribute("AC"), 1);
// test the behavior when the builder's attribute object is not initialized
modified = new VariantContextBuilder(modified.getSource(), modified.getChr(), modified.getStart(), modified.getEnd(), modified.getAlleles()).attribute("AC", 1).make();
// test normal attribute modification
modified = new VariantContextBuilder(cfg.vc).attribute("AC", 1).make(); modified = new VariantContextBuilder(cfg.vc).attribute("AC", 1).make();
Assert.assertEquals(modified.getAttribute("AC"), 1); Assert.assertEquals(modified.getAttribute("AC"), 1);
modified = new VariantContextBuilder(modified).attribute("AC", 2).make(); modified = new VariantContextBuilder(modified).attribute("AC", 2).make();

26
public/scala/src/org/broadinstitute/sting/queue/QCommandLine.scala
View File

@ -105,8 +105,7 @@ class QCommandLine extends CommandLineProgram with Logging {
def execute = { def execute = {
if (settings.qSettings.runName == null) if (settings.qSettings.runName == null)
settings.qSettings.runName = FilenameUtils.removeExtension(scripts.head.getName) settings.qSettings.runName = FilenameUtils.removeExtension(scripts.head.getName)
qGraph.initializeWithSettings(settings)
qGraph.settings = settings
val allQScripts = pluginManager.createAllTypes(); val allQScripts = pluginManager.createAllTypes();
for (script <- allQScripts) { for (script <- allQScripts) {
@ -137,26 +136,9 @@ class QCommandLine extends CommandLineProgram with Logging {
logger.info("Script %s with %d total jobs".format(if (success) "completed successfully" else "failed", functionsAndStatus.size)) logger.info("Script %s with %d total jobs".format(if (success) "completed successfully" else "failed", functionsAndStatus.size))
if (!settings.disableJobReport) { // write the final complete job report
val jobStringName = { logger.info("Writing final jobs report...")
if (settings.jobReportFile != null) qGraph.writeJobsReport()
settings.jobReportFile
else
settings.qSettings.runName + ".jobreport.txt"
}
if (!shuttingDown) {
val reportFile = IOUtils.absolute(settings.qSettings.runDirectory, jobStringName)
logger.info("Writing JobLogging GATKReport to file " + reportFile)
QJobReport.printReport(functionsAndStatus, reportFile)
if (settings.run) {
val pdfFile = IOUtils.absolute(settings.qSettings.runDirectory, FilenameUtils.removeExtension(jobStringName) + ".pdf")
logger.info("Plotting JobLogging GATKReport to file " + pdfFile)
QJobReport.plotReport(reportFile, pdfFile)
}
}
}
if (!qGraph.success) { if (!qGraph.success) {
logger.info("Done with errors") logger.info("Done with errors")

4
public/scala/src/org/broadinstitute/sting/queue/QSettings.scala
View File

@ -52,8 +52,8 @@ class QSettings {
@Argument(fullName="job_environment_name", shortName="jobEnv", doc="Environment names for the job runner.", required=false) @Argument(fullName="job_environment_name", shortName="jobEnv", doc="Environment names for the job runner.", required=false)
var jobEnvironmentNames: Seq[String] = Nil var jobEnvironmentNames: Seq[String] = Nil
@Argument(fullName="memory_limit", shortName="memLimit", doc="Default memory limit for jobs, in gigabytes.", required=false) @Argument(fullName="memory_limit", shortName="memLimit", doc="Default memory limit for jobs, in gigabytes. If not set defaults to 2GB.", required=false)
var memoryLimit: Option[Double] = None var memoryLimit: Option[Double] = Some(2)
@Argument(fullName="memory_limit_threshold", shortName="memLimitThresh", doc="After passing this threshold stop increasing memory limit for jobs, in gigabytes.", required=false) @Argument(fullName="memory_limit_threshold", shortName="memLimitThresh", doc="After passing this threshold stop increasing memory limit for jobs, in gigabytes.", required=false)
var memoryLimitThreshold: Option[Double] = None var memoryLimitThreshold: Option[Double] = None

64
public/scala/src/org/broadinstitute/sting/queue/engine/QGraph.scala
View File

@ -39,7 +39,7 @@ import collection.immutable.{TreeSet, TreeMap}
import org.broadinstitute.sting.queue.function.scattergather.{ScatterFunction, CloneFunction, GatherFunction, ScatterGatherableFunction} import org.broadinstitute.sting.queue.function.scattergather.{ScatterFunction, CloneFunction, GatherFunction, ScatterGatherableFunction}
import java.util.Date import java.util.Date
import org.broadinstitute.sting.utils.Utils import org.broadinstitute.sting.utils.Utils
import org.apache.commons.io.{FileUtils, IOUtils} import org.apache.commons.io.{FilenameUtils, FileUtils, IOUtils}
import java.io.{OutputStreamWriter, File} import java.io.{OutputStreamWriter, File}
/** /**
@ -71,6 +71,16 @@ class QGraph extends Logging {
private val inProcessManager = new InProcessJobManager private val inProcessManager = new InProcessJobManager
private def managers = Seq[Any](inProcessManager, commandLineManager) private def managers = Seq[Any](inProcessManager, commandLineManager)
/**
* If true, we will write out incremental job reports
*/
private val INCREMENTAL_JOBS_REPORT = true
/**
* Holds the optional jobInfoReporter structure
*/
private var jobInfoReporter: QJobsReporter = null
private class StatusCounts { private class StatusCounts {
var pending = 0 var pending = 0
var running = 0 var running = 0
@ -79,6 +89,19 @@ class QGraph extends Logging {
} }
private val statusCounts = new StatusCounts private val statusCounts = new StatusCounts
/**
* Final initialization step of this QGraph -- tell it runtime setting information
*
* The settings aren't necessarily available until after this QGraph object has been constructed, so
* this function must be called once the QGraphSettings have been filled in.
*
* @param settings
*/
def initializeWithSettings(settings: QGraphSettings) {
this.settings = settings
this.jobInfoReporter = createJobsReporter()
}
/** /**
* Adds a QScript created CommandLineFunction to the graph. * Adds a QScript created CommandLineFunction to the graph.
* @param command Function to add to the graph. * @param command Function to add to the graph.
@ -467,6 +490,12 @@ class QGraph extends Logging {
checkRetryJobs(failedJobs) checkRetryJobs(failedJobs)
} }
// incremental
if ( logNextStatusCounts && INCREMENTAL_JOBS_REPORT ) {
logger.info("Writing incremental jobs reports...")
writeJobsReport(false)
}
readyJobs ++= getReadyJobs readyJobs ++= getReadyJobs
} }
@ -1084,6 +1113,39 @@ class QGraph extends Logging {
} }
} }
/**
* Create the jobsReporter for this QGraph, based on the settings data.
*
* Must be called after settings has been initialized properly
*
* @return
*/
private def createJobsReporter(): QJobsReporter = {
val jobStringName = if (settings.jobReportFile != null)
settings.jobReportFile
else
settings.qSettings.runName + ".jobreport.txt"
val reportFile = org.broadinstitute.sting.utils.io.IOUtils.absolute(settings.qSettings.runDirectory, jobStringName)
val pdfFile = if ( settings.run )
Some(org.broadinstitute.sting.utils.io.IOUtils.absolute(settings.qSettings.runDirectory, FilenameUtils.removeExtension(jobStringName) + ".pdf"))
else
None
new QJobsReporter(settings.disableJobReport, reportFile, pdfFile)
}
/**
* Write, if possible, the jobs report
*/
def writeJobsReport(plot: Boolean = true) {
// note: the previous logic didn't write the job report if the system was shutting down, but I don't
// see any reason not to write the job report
if ( jobInfoReporter != null )
jobInfoReporter.write(this, plot)
}
/** /**
* Returns true if the graph was shutdown instead of exiting on its own. * Returns true if the graph was shutdown instead of exiting on its own.
*/ */

69
public/scala/src/org/broadinstitute/sting/queue/util/QJobReport.scala
View File

@ -25,13 +25,8 @@
package org.broadinstitute.sting.queue.util package org.broadinstitute.sting.queue.util
import org.broadinstitute.sting.queue.function.QFunction import org.broadinstitute.sting.queue.function.QFunction
import org.broadinstitute.sting.gatk.report.{GATKReportTable, GATKReport} import org.broadinstitute.sting.gatk.report.GATKReportTable
import org.broadinstitute.sting.utils.exceptions.UserException
import org.broadinstitute.sting.queue.engine.JobRunInfo import org.broadinstitute.sting.queue.engine.JobRunInfo
import java.io.{PrintStream, File}
import org.broadinstitute.sting.utils.R.{RScriptLibrary, RScriptExecutor}
import org.broadinstitute.sting.utils.io.Resource
import org.apache.commons.io.{IOUtils, FileUtils}
/** /**
* A mixin to add Job info to the class * A mixin to add Job info to the class
@ -98,31 +93,10 @@ trait QJobReport extends Logging {
} }
object QJobReport { object QJobReport {
val JOB_REPORT_QUEUE_SCRIPT = "queueJobReport.R"
// todo -- fixme to have a unique name for Scatter/gather jobs as well // todo -- fixme to have a unique name for Scatter/gather jobs as well
var seenCounter = 1 var seenCounter = 1
var seenNames = Set[String]() var seenNames = Set[String]()
def printReport(jobsRaw: Map[QFunction, JobRunInfo], dest: File) {
val jobs = jobsRaw.filter(_._2.isFilledIn).filter(_._1.includeInReport)
jobs foreach {case (qf, info) => qf.setRunInfo(info)}
val stream = new PrintStream(FileUtils.openOutputStream(dest))
try {
printJobLogging(jobs.keys.toSeq, stream)
} finally {
IOUtils.closeQuietly(stream)
}
}
def plotReport(reportFile: File, pdfFile: File) {
val executor = new RScriptExecutor
executor.addLibrary(RScriptLibrary.GSALIB)
executor.addScript(new Resource(JOB_REPORT_QUEUE_SCRIPT, classOf[QJobReport]))
executor.addArgs(reportFile.getAbsolutePath, pdfFile.getAbsolutePath)
executor.exec()
}
def workAroundSameJobNames(func: QFunction):String = { def workAroundSameJobNames(func: QFunction):String = {
if ( seenNames.apply(func.jobName) ) { if ( seenNames.apply(func.jobName) ) {
seenCounter += 1 seenCounter += 1
@ -132,45 +106,4 @@ object QJobReport {
func.jobName func.jobName
} }
} }
/**
* Prints the JobLogging logs to a GATKReport. First splits up the
* logs by group, and for each group generates a GATKReportTable
*/
private def printJobLogging(logs: Seq[QFunction], stream: PrintStream) {
// create the report
val report: GATKReport = new GATKReport
// create a table for each group of logs
for ( (group, groupLogs) <- groupLogs(logs) ) {
val keys = logKeys(groupLogs)
report.addTable(group, "Job logs for " + group, keys.size)
val table: GATKReportTable = report.getTable(group)
// add the columns
keys.foreach(table.addColumn(_))
for (log <- groupLogs) {
for ( key <- keys )
table.set(log.getReportName, key, log.getReportFeature(key))
}
}
report.print(stream)
}
private def groupLogs(logs: Seq[QFunction]): Map[String, Seq[QFunction]] = {
logs.groupBy(_.getReportGroup)
}
private def logKeys(logs: Seq[QFunction]): Set[String] = {
// the keys should be the same for each log, but we will check that
val keys = Set[String](logs(0).getReportFeatureNames : _*)
for ( log <- logs )
if ( keys.sameElements(Set(log.getReportFeatureNames)) )
throw new UserException(("All JobLogging jobs in the same group must have the same set of features. " +
"We found one with %s and another with %s").format(keys, log.getReportFeatureNames))
keys
}
} }

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@ -0,0 +1,121 @@
/*
* Copyright (c) 2012, The Broad Institute
*
* Permission is hereby granted, free of charge, to any person
* obtaining a copy of this software and associated documentation
* files (the "Software"), to deal in the Software without
* restriction, including without limitation the rights to use,
* copy, modify, merge, publish, distribute, sublicense, and/or sell
* copies of the Software, and to permit persons to whom the
* Software is furnished to do so, subject to the following
* conditions:
*
* The above copyright notice and this permission notice shall be
* included in all copies or substantial portions of the Software.
* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND,
* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES
* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND
* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT
* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY,
* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING
* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR
* OTHER DEALINGS IN THE SOFTWARE.
*/
package org.broadinstitute.sting.queue.util
import java.io.{PrintStream, File}
import org.broadinstitute.sting.utils.io.{Resource}
import org.broadinstitute.sting.queue.engine.{JobRunInfo, QGraph}
import org.broadinstitute.sting.queue.function.QFunction
import org.broadinstitute.sting.utils.R.{RScriptLibrary, RScriptExecutor}
import org.broadinstitute.sting.gatk.report.{GATKReportTable, GATKReport}
import org.broadinstitute.sting.utils.exceptions.UserException
import org.apache.commons.io.{FileUtils, IOUtils}
/**
* Writes out RunInfo to a GATKReport
*/
class QJobsReporter(val disabled: Boolean, val reportFile: File, val pdfFile: Option[File]) extends Logging {
private val JOB_REPORT_QUEUE_SCRIPT = "queueJobReport.R"
/**
* Write out a job report based on the finished jobs graph
* @param jobGraph
* @param enabledPlotting if true, we will plot the report as well with the JOB_REPORT_QUEUE_SCRIPT
*/
def write(jobGraph: QGraph, enabledPlotting: Boolean) {
if ( ! disabled ) {
logger.info("Writing JobLogging GATKReport to file " + reportFile)
printReport(jobGraph.getFunctionsAndStatus, reportFile)
if ( enabledPlotting )
pdfFile match {
case Some(file) =>
logger.info("Plotting JobLogging GATKReport to file " + file)
plotReport(reportFile, file)
case None =>
}
}
}
private def printReport(jobsRaw: Map[QFunction, JobRunInfo], dest: File) {
val jobs = jobsRaw.filter(_._2.isFilledIn).filter(_._1.includeInReport)
jobs foreach {case (qf, info) => qf.setRunInfo(info)}
val stream = new PrintStream(FileUtils.openOutputStream(dest))
try {
printJobLogging(jobs.keys.toSeq, stream)
} finally {
IOUtils.closeQuietly(stream)
}
}
private def plotReport(reportFile: File, pdfFile: File) {
val executor = new RScriptExecutor
executor.addLibrary(RScriptLibrary.GSALIB)
executor.addScript(new Resource(JOB_REPORT_QUEUE_SCRIPT, classOf[QJobReport]))
executor.addArgs(reportFile.getAbsolutePath, pdfFile.getAbsolutePath)
executor.exec()
}
/**
* Prints the JobLogging logs to a GATKReport. First splits up the
* logs by group, and for each group generates a GATKReportTable
*/
private def printJobLogging(logs: Seq[QFunction], stream: PrintStream) {
// create the report
val report: GATKReport = new GATKReport
// create a table for each group of logs
for ( (group, groupLogs) <- groupLogs(logs) ) {
val keys = logKeys(groupLogs)
report.addTable(group, "Job logs for " + group, keys.size)
val table: GATKReportTable = report.getTable(group)
// add the columns
keys.foreach(table.addColumn(_))
for (log <- groupLogs) {
for ( key <- keys )
table.set(log.getReportName, key, log.getReportFeature(key))
}
}
report.print(stream)
}
private def groupLogs(logs: Seq[QFunction]): Map[String, Seq[QFunction]] = {
logs.groupBy(_.getReportGroup)
}
private def logKeys(logs: Seq[QFunction]): Set[String] = {
// the keys should be the same for each log, but we will check that
val keys = Set[String](logs(0).getReportFeatureNames : _*)
for ( log <- logs )
if ( keys.sameElements(Set(log.getReportFeatureNames)) )
throw new UserException(("All JobLogging jobs in the same group must have the same set of features. " +
"We found one with %s and another with %s").format(keys, log.getReportFeatureNames))
keys
}
}