protected final void printCallInfo( final VariantContext vc, final double[] log10AlleleFrequencyPriors, final long runtimeNano, final AFCalcResult result) { printCallElement(vc, "type", "ignore", vc.getType()); int allelei = 0; for (final Allele a : vc.getAlleles()) printCallElement(vc, "allele", allelei++, a.getDisplayString()); for (final Genotype g : vc.getGenotypes()) printCallElement(vc, "PL", g.getSampleName(), g.getLikelihoodsString()); for (int priorI = 0; priorI < log10AlleleFrequencyPriors.length; priorI++) printCallElement(vc, "priorI", priorI, log10AlleleFrequencyPriors[priorI]); printCallElement(vc, "runtime.nano", "ignore", runtimeNano); printCallElement(vc, "log10PosteriorOfAFEq0", "ignore", result.getLog10PosteriorOfAFEq0()); printCallElement(vc, "log10PosteriorOfAFGt0", "ignore", result.getLog10PosteriorOfAFGT0()); for (final Allele allele : result.getAllelesUsedInGenotyping()) { if (allele.isNonReference()) { printCallElement(vc, "MLE", allele, result.getAlleleCountAtMLE(allele)); printCallElement( vc, "pNonRefByAllele", allele, result.getLog10PosteriorOfAFGt0ForAllele(allele)); } } callReport.flush(); }
static boolean someSampleHasDoubleNonReferenceAllele(VariantContext vc1, VariantContext vc2) { for (final Genotype gt1 : vc1.getGenotypes()) { Genotype gt2 = vc2.getGenotype(gt1.getSampleName()); List<Allele> site1Alleles = gt1.getAlleles(); List<Allele> site2Alleles = gt2.getAlleles(); Iterator<Allele> all2It = site2Alleles.iterator(); for (Allele all1 : site1Alleles) { Allele all2 = all2It.next(); // this is OK, since allSamplesAreMergeable() if (all1.isNonReference() && all2.isNonReference()) // corresponding alleles are alternate return true; } } return false; }
public Allele getLikelihoods( RefMetaDataTracker tracker, ReferenceContext ref, Map<String, AlignmentContext> contexts, AlignmentContextUtils.ReadOrientation contextType, GenotypePriors priors, Map<String, MultiallelicGenotypeLikelihoods> GLs, Allele alternateAlleleToUse, boolean useBAQedPileup) { if (tracker == null) return null; GenomeLoc loc = ref.getLocus(); Allele refAllele, altAllele; VariantContext vc = null; if (!ref.getLocus().equals(lastSiteVisited)) { // starting a new site: clear allele list alleleList.clear(); lastSiteVisited = ref.getLocus(); indelLikelihoodMap.set(new HashMap<PileupElement, LinkedHashMap<Allele, Double>>()); haplotypeMap.clear(); if (getAlleleListFromVCF) { for (final VariantContext vc_input : tracker.getValues(UAC.alleles, loc)) { if (vc_input != null && allowableTypes.contains(vc_input.getType()) && ref.getLocus().getStart() == vc_input.getStart()) { vc = vc_input; break; } } // ignore places where we don't have a variant if (vc == null) return null; alleleList.clear(); if (ignoreSNPAllelesWhenGenotypingIndels) { // if there's an allele that has same length as the reference (i.e. a SNP or MNP), ignore // it and don't genotype it for (Allele a : vc.getAlleles()) if (a.isNonReference() && a.getBases().length == vc.getReference().getBases().length) continue; else alleleList.add(a); } else { for (Allele a : vc.getAlleles()) alleleList.add(a); } } else { alleleList = computeConsensusAlleles(ref, contexts, contextType); if (alleleList.isEmpty()) return null; } } // protect against having an indel too close to the edge of a contig if (loc.getStart() <= HAPLOTYPE_SIZE) return null; // check if there is enough reference window to create haplotypes (can be an issue at end of // contigs) if (ref.getWindow().getStop() < loc.getStop() + HAPLOTYPE_SIZE) return null; if (!(priors instanceof DiploidIndelGenotypePriors)) throw new StingException( "Only diploid-based Indel priors are supported in the DINDEL GL model"); if (alleleList.isEmpty()) return null; refAllele = alleleList.get(0); altAllele = alleleList.get(1); // look for alt allele that has biggest length distance to ref allele int maxLenDiff = 0; for (Allele a : alleleList) { if (a.isNonReference()) { int lenDiff = Math.abs(a.getBaseString().length() - refAllele.getBaseString().length()); if (lenDiff > maxLenDiff) { maxLenDiff = lenDiff; altAllele = a; } } } final int eventLength = altAllele.getBaseString().length() - refAllele.getBaseString().length(); final int hsize = (int) ref.getWindow().size() - Math.abs(eventLength) - 1; final int numPrefBases = ref.getLocus().getStart() - ref.getWindow().getStart() + 1; haplotypeMap = Haplotype.makeHaplotypeListFromAlleles( alleleList, loc.getStart(), ref, hsize, numPrefBases); // For each sample, get genotype likelihoods based on pileup // compute prior likelihoods on haplotypes, and initialize haplotype likelihood matrix with // them. // initialize the GenotypeLikelihoods GLs.clear(); for (Map.Entry<String, AlignmentContext> sample : contexts.entrySet()) { AlignmentContext context = AlignmentContextUtils.stratify(sample.getValue(), contextType); ReadBackedPileup pileup = null; if (context.hasExtendedEventPileup()) pileup = context.getExtendedEventPileup(); else if (context.hasBasePileup()) pileup = context.getBasePileup(); if (pileup != null) { final double[] genotypeLikelihoods = pairModel.computeReadHaplotypeLikelihoods( pileup, haplotypeMap, ref, eventLength, getIndelLikelihoodMap()); GLs.put( sample.getKey(), new MultiallelicGenotypeLikelihoods( sample.getKey(), alleleList, genotypeLikelihoods, getFilteredDepth(pileup))); if (DEBUG) { System.out.format("Sample:%s Alleles:%s GL:", sample.getKey(), alleleList.toString()); for (int k = 0; k < genotypeLikelihoods.length; k++) System.out.format("%1.4f ", genotypeLikelihoods[k]); System.out.println(); } } } return refAllele; }