/** * Checks if vc has a variant call for (at least one of) the samples. * * @param vc the variant rod VariantContext. Here, the variant is the dataset you're looking for * discordances to (e.g. HapMap) * @param compVCs the comparison VariantContext (discordance * @return */ private boolean isDiscordant(VariantContext vc, Collection<VariantContext> compVCs) { if (vc == null) return false; // if we're not looking at specific samples then the absence of a compVC means discordance if (NO_SAMPLES_SPECIFIED) return (compVCs == null || compVCs.isEmpty()); // check if we find it in the variant rod Map<String, Genotype> genotypes = vc.getGenotypes(samples); for (Genotype g : genotypes.values()) { if (sampleHasVariant(g)) { // There is a variant called (or filtered with not exclude filtered option set) that is not // HomRef for at least one of the samples. if (compVCs == null) return true; // Look for this sample in the all vcs of the comp ROD track. boolean foundVariant = false; for (VariantContext compVC : compVCs) { if (sampleHasVariant(compVC.getGenotype(g.getSampleName()))) { foundVariant = true; break; } } // if (at least one sample) was not found in all VCs of the comp ROD, we have discordance if (!foundVariant) return true; } } return false; // we only get here if all samples have a variant in the comp rod. }
private boolean isConcordant(VariantContext vc, Collection<VariantContext> compVCs) { if (vc == null || compVCs == null || compVCs.isEmpty()) return false; // if we're not looking for specific samples then the fact that we have both VCs is enough to // call it concordant. if (NO_SAMPLES_SPECIFIED) return true; // make a list of all samples contained in this variant VC that are being tracked by the user // command line arguments. Set<String> variantSamples = vc.getSampleNames(); variantSamples.retainAll(samples); // check if we can find all samples from the variant rod in the comp rod. for (String sample : variantSamples) { boolean foundSample = false; for (VariantContext compVC : compVCs) { Genotype varG = vc.getGenotype(sample); Genotype compG = compVC.getGenotype(sample); if (haveSameGenotypes(varG, compG)) { foundSample = true; break; } } // if at least one sample doesn't have the same genotype, we don't have concordance if (!foundSample) { return false; } } return true; }
/** * Subset VC record if necessary and emit the modified record (provided it satisfies criteria for * printing) * * @param tracker the ROD tracker * @param ref reference information * @param context alignment info * @return 1 if the record was printed to the output file, 0 if otherwise */ @Override public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) { if (tracker == null) return 0; Collection<VariantContext> vcs = tracker.getValues(variantCollection.variants, context.getLocation()); if (vcs == null || vcs.size() == 0) { return 0; } for (VariantContext vc : vcs) { if (MENDELIAN_VIOLATIONS) { boolean foundMV = false; for (MendelianViolation mv : mvSet) { if (mv.isViolation(vc)) { foundMV = true; // System.out.println(vc.toString()); if (outMVFile != null) outMVFileStream.format( "MV@%s:%d. REF=%s, ALT=%s, AC=%d, momID=%s, dadID=%s, childID=%s, momG=%s, momGL=%s, dadG=%s, dadGL=%s, " + "childG=%s childGL=%s\n", vc.getChr(), vc.getStart(), vc.getReference().getDisplayString(), vc.getAlternateAllele(0).getDisplayString(), vc.getChromosomeCount(vc.getAlternateAllele(0)), mv.getSampleMom(), mv.getSampleDad(), mv.getSampleChild(), vc.getGenotype(mv.getSampleMom()).toBriefString(), vc.getGenotype(mv.getSampleMom()).getLikelihoods().getAsString(), vc.getGenotype(mv.getSampleDad()).toBriefString(), vc.getGenotype(mv.getSampleMom()).getLikelihoods().getAsString(), vc.getGenotype(mv.getSampleChild()).toBriefString(), vc.getGenotype(mv.getSampleChild()).getLikelihoods().getAsString()); } } if (!foundMV) break; } if (DISCORDANCE_ONLY) { Collection<VariantContext> compVCs = tracker.getValues(discordanceTrack, context.getLocation()); if (!isDiscordant(vc, compVCs)) return 0; } if (CONCORDANCE_ONLY) { Collection<VariantContext> compVCs = tracker.getValues(concordanceTrack, context.getLocation()); if (!isConcordant(vc, compVCs)) return 0; } if (alleleRestriction.equals(NumberAlleleRestriction.BIALLELIC) && !vc.isBiallelic()) continue; if (alleleRestriction.equals(NumberAlleleRestriction.MULTIALLELIC) && vc.isBiallelic()) continue; if (!selectedTypes.contains(vc.getType())) continue; VariantContext sub = subsetRecord(vc, samples); if ((sub.isPolymorphic() || !EXCLUDE_NON_VARIANTS) && (!sub.isFiltered() || !EXCLUDE_FILTERED)) { for (VariantContextUtils.JexlVCMatchExp jexl : jexls) { if (!VariantContextUtils.match(sub, jexl)) { return 0; } } if (SELECT_RANDOM_NUMBER) { randomlyAddVariant(++variantNumber, sub, ref.getBase()); } else if (!SELECT_RANDOM_FRACTION || (GenomeAnalysisEngine.getRandomGenerator().nextDouble() < fractionRandom)) { vcfWriter.add(sub); } } } return 1; }