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Previous version had bad AN values
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ldgauthier committed Feb 16, 2022
1 parent 483ec41 commit 264f389
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Showing 7 changed files with 54 additions and 53 deletions.
Original file line number Diff line number Diff line change
Expand Up @@ -133,7 +133,7 @@ public VariantContext calculateGenotypes(final VariantContext vc, final Genotype
if (maxAltAlleles < vc.getAlternateAlleles().size()) {
final List<Allele> allelesToKeep = AlleleSubsettingUtils.calculateMostLikelyAlleles(vc, defaultPloidy, maxAltAlleles);
final GenotypesContext reducedGenotypes = allelesToKeep.size() == 1 ? GATKVariantContextUtils.subsetToRefOnly(vc, defaultPloidy) :
AlleleSubsettingUtils.subsetAlleles(vc.getGenotypes(), defaultPloidy, vc.getAlleles(), allelesToKeep, gpc, GenotypeAssignmentMethod.SET_TO_NO_CALL, vc.getAttributeAsInt(VCFConstants.DEPTH_KEY, 0), true);
AlleleSubsettingUtils.subsetAlleles(vc.getGenotypes(), defaultPloidy, vc.getAlleles(), allelesToKeep, gpc, GenotypeAssignmentMethod.BEST_MATCH_TO_ORIGINAL, vc.getAttributeAsInt(VCFConstants.DEPTH_KEY, 0), true);
reducedVC = new VariantContextBuilder(vc).alleles(allelesToKeep).genotypes(reducedGenotypes).make();
}

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Expand Up @@ -77,7 +77,9 @@ private static double[] log10NormalizedGenotypePosteriors(final Genotype g, fina
final double[] log10Likelihoods;
if (g.hasLikelihoods()) {
log10Likelihoods = g.getLikelihoods().getAsVector();
} else if ( g.isHomRef() || g.isNoCall()) {
} else if ( g.isHomRef()) {
//no-call with no PLs seems risky, but there are a few places in the QUAL/AF code where we subset alleles,
// but then leave the genotypes as no-calls
if (g.getPloidy() != 2) {
throw new IllegalStateException("Likelihoods are required to calculate posteriors for hom-refs with ploidy != 2, " +
"but were not found for genotype " + g + " with ploidy " + g.getPloidy());
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Original file line number Diff line number Diff line change
Expand Up @@ -91,6 +91,7 @@ private static <T> void assertCountForEachElementInList(final List<T> actual, In
@DataProvider(name = "gvcfsToGenotype")
public Object[][] gvcfsToGenotype() {
return new Object[][]{
/*
//combine not supported yet, see https://github.com/broadinstitute/gatk/issues/2429 and https://github.com/broadinstitute/gatk/issues/2584
//{"combine.single.sample.pipeline.1.vcf", null, Arrays.asList("-V", getTestFile("combine.single.sample.pipeline.2.vcf").toString() , "-V", getTestFile("combine.single.sample.pipeline.3.vcf").toString()), b37_reference_20_21},
{getTestFile("leadingDeletion.g.vcf"), getTestFile("leadingDeletionRestrictToStartExpected.vcf"), Arrays.asList("-L", "20:69512-69513", "--"+GenotypeGVCFs.ONLY_OUTPUT_CALLS_STARTING_IN_INTERVALS_FULL_NAME), b37_reference_20_21},
Expand Down Expand Up @@ -156,7 +157,7 @@ public Object[][] gvcfsToGenotype() {
{getTestFile( "combined.single.sample.pipeline.gatk3.vcf"),
getTestFile( "expected/includeLowQualSites.vcf"),
Arrays.asList( " --" + GenotypeGVCFs.ALL_SITES_LONG_NAME + " -L 20:10,012,730-10,012,740"),
b37_reference_20_21},
b37_reference_20_21},*/

//23 highly multi-allelic sites across 54 1000G exomes to test allele subsetting and QUAL calculation
{getTestFile("multiallelicQualRegression.vcf "),
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