Merge branch 'master' of ssh://gsa4.broadinstitute.org/humgen/gsa-scr1/gsa-engineering/git/unstable
This commit is contained in:
commit
1aa856e0e3
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@ -42,14 +42,12 @@ import java.util.*;
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public class GenotypingEngine {
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private final boolean DEBUG;
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private final int MNP_LOOK_AHEAD;
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private final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE;
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private final static List<Allele> noCall = new ArrayList<Allele>(); // used to noCall all genotypes until the exact model is applied
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private final static Allele SYMBOLIC_UNASSEMBLED_EVENT_ALLELE = Allele.create("<UNASSEMBLED_EVENT>", false);
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public GenotypingEngine( final boolean DEBUG, final int MNP_LOOK_AHEAD, final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE ) {
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public GenotypingEngine( final boolean DEBUG, final boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE ) {
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this.DEBUG = DEBUG;
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this.MNP_LOOK_AHEAD = MNP_LOOK_AHEAD;
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this.OUTPUT_FULL_HAPLOTYPE_SEQUENCE = OUTPUT_FULL_HAPLOTYPE_SEQUENCE;
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noCall.add(Allele.NO_CALL);
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}
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@ -120,7 +118,7 @@ public class GenotypingEngine {
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System.out.println( "> Cigar = " + h.getCigar() );
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}
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// Walk along the alignment and turn any difference from the reference into an event
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h.setEventMap( generateVCsFromAlignment( h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++, MNP_LOOK_AHEAD ) );
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h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++ ) );
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startPosKeySet.addAll(h.getEventMap().keySet());
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}
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@ -203,7 +201,7 @@ public class GenotypingEngine {
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if( DEBUG ) { System.out.println("=== Best Haplotypes ==="); }
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for( final Haplotype h : haplotypes ) {
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// Walk along the alignment and turn any difference from the reference into an event
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h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++, MNP_LOOK_AHEAD ) );
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h.setEventMap( generateVCsFromAlignment( h, h.getAlignmentStartHapwrtRef(), h.getCigar(), ref, h.getBases(), refLoc, "HC" + count++ ) );
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if( activeAllelesToGenotype.isEmpty() ) { startPosKeySet.addAll(h.getEventMap().keySet()); }
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if( DEBUG ) {
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System.out.println( h.toString() );
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@ -521,11 +519,7 @@ public class GenotypingEngine {
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return false;
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}
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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 ) {
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return generateVCsFromAlignment(null, alignmentStartHapwrtRef, cigar, ref, alignment, refLoc, sourceNameToAdd, MNP_LOOK_AHEAD); // BUGBUG: needed for compatibility with HaplotypeResolver code
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}
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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 ) {
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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 ) {
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final HashMap<Integer,VariantContext> vcs = new HashMap<Integer,VariantContext>();
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int refPos = alignmentStartHapwrtRef;
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@ -543,7 +537,7 @@ public class GenotypingEngine {
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if( BaseUtils.isRegularBase(refByte) ) {
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insertionAlleles.add( Allele.create(refByte, true) );
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}
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if( haplotype != null && (haplotype.leftBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1 || haplotype.rightBreakPoint + alignmentStartHapwrtRef + refLoc.getStart() - 1 == insertionStart + elementLength + 1) ) {
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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) ) {
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insertionAlleles.add( SYMBOLIC_UNASSEMBLED_EVENT_ALLELE );
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} else {
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byte[] insertionBases = new byte[]{};
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@ -590,39 +584,16 @@ public class GenotypingEngine {
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case EQ:
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case X:
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{
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int numSinceMismatch = -1;
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int stopOfMismatch = -1;
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int startOfMismatch = -1;
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int refPosStartOfMismatch = -1;
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for( int iii = 0; iii < elementLength; iii++ ) {
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if( ref[refPos] != alignment[alignmentPos] && alignment[alignmentPos] != ((byte) 'N') ) {
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// SNP or start of possible MNP
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if( stopOfMismatch == -1 ) {
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startOfMismatch = alignmentPos;
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stopOfMismatch = alignmentPos;
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numSinceMismatch = 0;
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refPosStartOfMismatch = refPos;
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} else {
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stopOfMismatch = alignmentPos;
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}
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}
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if( stopOfMismatch != -1) {
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numSinceMismatch++;
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}
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if( numSinceMismatch > MNP_LOOK_AHEAD || (iii == elementLength - 1 && stopOfMismatch != -1) ) {
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final byte[] refBases = Arrays.copyOfRange( ref, refPosStartOfMismatch, refPosStartOfMismatch + (stopOfMismatch - startOfMismatch) + 1 );
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final byte[] mismatchBases = Arrays.copyOfRange( alignment, startOfMismatch, stopOfMismatch + 1 );
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if( BaseUtils.isAllRegularBases(refBases) && BaseUtils.isAllRegularBases(mismatchBases) ) {
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final byte refByte = ref[refPos];
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final byte altByte = alignment[alignmentPos];
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if( refByte != altByte ) { // SNP!
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if( BaseUtils.isRegularBase(refByte) && BaseUtils.isRegularBase(altByte) ) {
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final ArrayList<Allele> snpAlleles = new ArrayList<Allele>();
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snpAlleles.add( Allele.create( refBases, true ) );
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snpAlleles.add( Allele.create( mismatchBases, false ) );
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final int snpStart = refLoc.getStart() + refPosStartOfMismatch;
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vcs.put(snpStart, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), snpStart, snpStart + (stopOfMismatch - startOfMismatch), snpAlleles).make());
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snpAlleles.add( Allele.create( refByte, true ) );
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snpAlleles.add( Allele.create( altByte, false ) );
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vcs.put(refLoc.getStart() + refPos, new VariantContextBuilder(sourceNameToAdd, refLoc.getContig(), refLoc.getStart() + refPos, refLoc.getStart() + refPos, snpAlleles).make());
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}
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numSinceMismatch = -1;
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stopOfMismatch = -1;
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startOfMismatch = -1;
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refPosStartOfMismatch = -1;
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}
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refPos++;
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alignmentPos++;
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@ -119,10 +119,6 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
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@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)
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protected String keepRG = null;
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@Hidden
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@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)
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protected int MNP_LOOK_AHEAD = 0;
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@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)
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protected int MIN_PRUNE_FACTOR = 1;
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@ -135,7 +131,7 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
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protected boolean OUTPUT_FULL_HAPLOTYPE_SEQUENCE = false;
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@Advanced
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@Argument(fullName="gcpHMM", shortName="gcpHMM", doc="Gap continuation penalty for use in the Pair HMM", required = false)
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@Argument(fullName="gcpHMM", shortName="gcpHMM", doc="Flat gap continuation penalty for use in the Pair HMM", required = false)
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protected int gcpHMM = 10;
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@Argument(fullName="downsampleRegion", shortName="dr", doc="coverage, per-sample, to downsample each active region to", required = false)
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@ -189,21 +185,21 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
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@ArgumentCollection
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private StandardCallerArgumentCollection SCAC = new StandardCallerArgumentCollection();
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// the calculation arguments
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private UnifiedGenotyperEngine UG_engine = null;
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private UnifiedGenotyperEngine UG_engine_simple_genotyper = null;
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@Argument(fullName="debug", shortName="debug", doc="If specified, print out very verbose debug information about each triggering active region", required = false)
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protected boolean DEBUG;
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// the UG engines
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private UnifiedGenotyperEngine UG_engine = null;
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private UnifiedGenotyperEngine UG_engine_simple_genotyper = null;
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// the assembly engine
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LocalAssemblyEngine assemblyEngine = null;
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private LocalAssemblyEngine assemblyEngine = null;
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// the likelihoods engine
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LikelihoodCalculationEngine likelihoodCalculationEngine = null;
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private LikelihoodCalculationEngine likelihoodCalculationEngine = null;
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// the genotyping engine
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GenotypingEngine genotypingEngine = null;
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private GenotypingEngine genotypingEngine = null;
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// the annotation engine
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private VariantAnnotatorEngine annotationEngine;
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@ -289,7 +285,7 @@ public class HaplotypeCaller extends ActiveRegionWalker<Integer, Integer> implem
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assemblyEngine = new SimpleDeBruijnAssembler( DEBUG, graphWriter );
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likelihoodCalculationEngine = new LikelihoodCalculationEngine( (byte)gcpHMM, DEBUG, false );
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genotypingEngine = new GenotypingEngine( DEBUG, MNP_LOOK_AHEAD, OUTPUT_FULL_HAPLOTYPE_SEQUENCE );
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genotypingEngine = new GenotypingEngine( DEBUG, OUTPUT_FULL_HAPLOTYPE_SEQUENCE );
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}
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//---------------------------------------------------------------------------------------------------------------
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@ -37,6 +37,7 @@ import org.broadinstitute.sting.gatk.walkers.Reference;
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import org.broadinstitute.sting.gatk.walkers.RodWalker;
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import org.broadinstitute.sting.gatk.walkers.Window;
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import org.broadinstitute.sting.utils.GenomeLoc;
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import org.broadinstitute.sting.utils.Haplotype;
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import org.broadinstitute.sting.utils.SWPairwiseAlignment;
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import org.broadinstitute.sting.utils.codecs.vcf.VCFHeader;
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import org.broadinstitute.sting.utils.codecs.vcf.VCFHeaderLine;
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@ -337,8 +338,8 @@ public class HaplotypeResolver extends RodWalker<Integer, Integer> {
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}
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// order results by start position
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final TreeMap<Integer, VariantContext> source1Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(0, swConsensus1.getCigar(), refContext.getBases(), source1Haplotype, refContext.getWindow(), source1, 0));
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final TreeMap<Integer, VariantContext> source2Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(0, swConsensus2.getCigar(), refContext.getBases(), source2Haplotype, refContext.getWindow(), source2, 0));
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final TreeMap<Integer, VariantContext> source1Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(new Haplotype(source1Haplotype), 0, swConsensus1.getCigar(), refContext.getBases(), source1Haplotype, refContext.getWindow(), source1));
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final TreeMap<Integer, VariantContext> source2Map = new TreeMap<Integer, VariantContext>(GenotypingEngine.generateVCsFromAlignment(new Haplotype(source2Haplotype), 0, swConsensus2.getCigar(), refContext.getBases(), source2Haplotype, refContext.getWindow(), source2));
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if ( source1Map.size() == 0 || source2Map.size() == 0 ) {
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// TODO -- handle errors appropriately
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logger.debug("No source alleles; aborting at " + refContext.getLocus());
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|
|
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@ -293,7 +293,7 @@ public class SimpleDeBruijnAssembler extends LocalAssemblyEngine {
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final Haplotype h = new Haplotype( path.getBases( graph ), path.getScore() );
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if( addHaplotype( h, fullReferenceWithPadding, returnHaplotypes, activeRegionStart, activeRegionStop ) ) {
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if( !activeAllelesToGenotype.isEmpty() ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present
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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
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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
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for( final VariantContext compVC : activeAllelesToGenotype ) { // for GGA mode, add the desired allele into the haplotype if it isn't already present
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final VariantContext vcOnHaplotype = eventMap.get(compVC.getStart());
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if( vcOnHaplotype == null || !vcOnHaplotype.hasSameAllelesAs(compVC) ) {
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|
|
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@ -142,7 +142,6 @@ public class GenotypingEngineUnitTest extends BaseTest {
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byte[] ref;
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byte[] hap;
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HashMap<Integer,Byte> expected;
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GenotypingEngine ge = new GenotypingEngine(false, 0, false);
|
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|
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public BasicGenotypingTestProvider(String refString, String hapString, HashMap<Integer, Byte> expected) {
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super(BasicGenotypingTestProvider.class, String.format("Haplotype to VCF test: ref = %s, alignment = %s", refString,hapString));
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@ -153,7 +152,7 @@ public class GenotypingEngineUnitTest extends BaseTest {
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|
||||
public HashMap<Integer,VariantContext> calcAlignment() {
|
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final SWPairwiseAlignment alignment = new SWPairwiseAlignment(ref, hap);
|
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return ge.generateVCsFromAlignment( alignment.getAlignmentStart2wrt1(), alignment.getCigar(), ref, hap, genomeLocParser.createGenomeLoc("4",1,1+ref.length), "name", 0);
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return GenotypingEngine.generateVCsFromAlignment( new Haplotype(hap), alignment.getAlignmentStart2wrt1(), alignment.getCigar(), ref, hap, genomeLocParser.createGenomeLoc("4",1,1+ref.length), "name");
|
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}
|
||||
}
|
||||
|
||||
|
|
|
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|
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@ -8,9 +8,10 @@ import java.util.Arrays;
|
|||
public class HaplotypeCallerIntegrationTest extends WalkerTest {
|
||||
final static String REF = b37KGReference;
|
||||
final String NA12878_BAM = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.bam";
|
||||
final String NA12878_CHR20_BAM = validationDataLocation + "NA12878.HiSeq.WGS.bwa.cleaned.recal.hg19.20.bam";
|
||||
final String CEUTRIO_BAM = validationDataLocation + "CEUTrio.HiSeq.b37.chr20.10_11mb.bam";
|
||||
final String NA12878_RECALIBRATED_BAM = privateTestDir + "NA12878.100kb.BQSRv2.example.bam";
|
||||
final String INTERVALS_FILE = validationDataLocation + "NA12878.HiSeq.b37.chr20.10_11mb.test.intervals";
|
||||
//final String RECAL_FILE = validationDataLocation + "NA12878.kmer.8.subset.recal_data.bqsr";
|
||||
|
||||
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";
|
||||
|
|
@ -34,14 +35,35 @@ public class HaplotypeCallerIntegrationTest extends WalkerTest {
|
|||
}
|
||||
|
||||
private void HCTestComplexVariants(String bam, String args, String md5) {
|
||||
final String base = String.format("-T HaplotypeCaller -R %s -I %s", REF, bam) + " -L 20:10431524-10431924 -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));
|
||||
executeTest("testHaplotypeCallerComplexVariants: args=" + args, spec);
|
||||
}
|
||||
|
||||
@Test
|
||||
public void testHaplotypeCallerMultiSampleComplex() {
|
||||
HCTestComplexVariants(CEUTRIO_BAM, "", "316a0fb9c66c0a6aa40a170d5d8c0021");
|
||||
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");
|
||||
}
|
||||
}
|
||||
|
||||
|
|
|
|||
|
|
@ -1,11 +1,8 @@
|
|||
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.VCFInfoHeaderLine;
|
||||
import org.broadinstitute.sting.utils.pileup.PileupElement;
|
||||
import org.broadinstitute.sting.utils.pileup.ReadBackedPileup;
|
||||
import org.broadinstitute.sting.utils.sam.AlignmentUtils;
|
||||
import org.broadinstitute.sting.utils.sam.GATKSAMRecord;
|
||||
|
|
|
|||
|
|
@ -5,7 +5,6 @@ import net.sf.samtools.CigarElement;
|
|||
import net.sf.samtools.CigarOperator;
|
||||
import net.sf.samtools.SAMRecord;
|
||||
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.utils.codecs.vcf.VCFHeaderLineType;
|
||||
|
|
|
|||
|
|
@ -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)
|
||||
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;
|
||||
|
||||
/**
|
||||
|
|
|
|||
|
|
@ -1,6 +1,7 @@
|
|||
package org.broadinstitute.sting.utils.activeregion;
|
||||
|
||||
import net.sf.picard.reference.IndexedFastaSequenceFile;
|
||||
import net.sf.samtools.util.StringUtil;
|
||||
import org.broadinstitute.sting.utils.GenomeLoc;
|
||||
import org.broadinstitute.sting.utils.GenomeLocParser;
|
||||
import org.broadinstitute.sting.utils.HasGenomeLocation;
|
||||
|
|
@ -58,9 +59,7 @@ public class ActiveRegion implements HasGenomeLocation {
|
|||
}
|
||||
|
||||
public byte[] getActiveRegionReference( final IndexedFastaSequenceFile referenceReader, final int padding ) {
|
||||
return referenceReader.getSubsequenceAt( extendedLoc.getContig(),
|
||||
Math.max(1, extendedLoc.getStart() - padding),
|
||||
Math.min(referenceReader.getSequenceDictionary().getSequence(extendedLoc.getContig()).getSequenceLength(), extendedLoc.getStop() + padding) ).getBases();
|
||||
return getReference( referenceReader, padding, extendedLoc );
|
||||
}
|
||||
|
||||
public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader ) {
|
||||
|
|
@ -68,11 +67,16 @@ public class ActiveRegion implements HasGenomeLocation {
|
|||
}
|
||||
|
||||
public byte[] getFullReference( final IndexedFastaSequenceFile referenceReader, final int padding ) {
|
||||
return referenceReader.getSubsequenceAt( fullExtentReferenceLoc.getContig(),
|
||||
Math.max(1, fullExtentReferenceLoc.getStart() - padding),
|
||||
Math.min(referenceReader.getSequenceDictionary().getSequence(fullExtentReferenceLoc.getContig()).getSequenceLength(), fullExtentReferenceLoc.getStop() + padding) ).getBases();
|
||||
return getReference( referenceReader, padding, fullExtentReferenceLoc );
|
||||
}
|
||||
|
||||
private byte[] getReference( final IndexedFastaSequenceFile referenceReader, final int padding, final GenomeLoc genomeLoc ) {
|
||||
final byte[] reference = referenceReader.getSubsequenceAt( genomeLoc.getContig(),
|
||||
Math.max(1, genomeLoc.getStart() - padding),
|
||||
Math.min(referenceReader.getSequenceDictionary().getSequence(genomeLoc.getContig()).getSequenceLength(), genomeLoc.getStop() + padding) ).getBases();
|
||||
StringUtil.toUpperCase(reference);
|
||||
return reference;
|
||||
}
|
||||
|
||||
@Override
|
||||
public GenomeLoc getLocation() { return activeRegionLoc; }
|
||||
|
|
|
|||
|
|
@ -94,6 +94,7 @@ public class VariantContextBuilder {
|
|||
this.start = start;
|
||||
this.stop = stop;
|
||||
this.alleles = alleles;
|
||||
this.attributes = Collections.emptyMap(); // immutable
|
||||
toValidate.add(VariantContext.Validation.ALLELES);
|
||||
}
|
||||
|
||||
|
|
|
|||
|
|
@ -750,6 +750,10 @@ public class VariantContextUnitTest extends BaseTest {
|
|||
modified = new VariantContextBuilder(modified).attributes(null).attribute("AC", 1).make();
|
||||
Assert.assertEquals(modified.getAttribute("AC"), 1);
|
||||
|
||||
// test the behavior when the builder's attribute object is not initialized
|
||||
modified = new VariantContextBuilder(modified.getSource(), modified.getChr(), modified.getStart(), modified.getEnd(), modified.getAlleles()).attribute("AC", 1).make();
|
||||
|
||||
// test normal attribute modification
|
||||
modified = new VariantContextBuilder(cfg.vc).attribute("AC", 1).make();
|
||||
Assert.assertEquals(modified.getAttribute("AC"), 1);
|
||||
modified = new VariantContextBuilder(modified).attribute("AC", 2).make();
|
||||
|
|
|
|||
|
|
@ -50,7 +50,7 @@ my %ref_order;
|
|||
my $n = 0;
|
||||
while ( <DICT> ) {
|
||||
chomp;
|
||||
my ($contig, $rest) = split "\t";
|
||||
my ($contig, $rest) = split '\s';
|
||||
die("Dictionary file is probably corrupt: multiple instances of contig $contig") if ( defined $ref_order{$contig} );
|
||||
|
||||
$ref_order{$contig} = $n;
|
||||
|
|
|
|||
Loading…
Reference in New Issue