@Override
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();
if (genotypes == null || genotypes.size() < MIN_SAMPLES) {
if (!warningLogged) {
logger.warn("Too few genotypes");
warningLogged = true;
}
return null;
}
int refCount = 0;
int hetCount = 0;
int homCount = 0;
for (final Genotype g : genotypes) {
if (g.isNoCall()) continue;
// TODO - fix me:
// Right now we just ignore genotypes that are not confident, but this throws off
// our HW ratios. More analysis is needed to determine the right thing to do when
// the genotyper cannot decide whether a given sample is het or hom var.
if (g.getLog10PError() > MIN_LOG10_PERROR) continue;
if (g.isHomRef()) refCount++;
else if (g.isHet()) hetCount++;
else homCount++;
}
if (refCount + hetCount + homCount == 0) return null;
double pvalue = HardyWeinbergCalculation.hwCalculate(refCount, hetCount, homCount);
// System.out.println(refCount + " " + hetCount + " " + homCount + " " + pvalue);
Map<String, Object> map = new HashMap<>();
map.put(getKeyNames().get(0), String.format("%.1f", QualityUtils.phredScaleErrorRate(pvalue)));
return map;
}
private VariantContext makeVC() {
final GenotypesContext testGC = GenotypesContext.create(2);
final Allele refAllele = Allele.create("A", true);
final Allele altAllele = Allele.create("T");
return (new VariantContextBuilder())
.alleles(Arrays.asList(refAllele, altAllele))
.chr("1")
.start(15L)
.stop(15L)
.genotypes(testGC)
.make();
}
@Test
public void testFixReverseComplementedGenotypes() {
final Allele refA = Allele.create("A", true);
final Allele altC = Allele.create("C", false);
final GenotypesContext originalGenotypes = GenotypesContext.create(3);
originalGenotypes.add(new GenotypeBuilder("homref").alleles(Arrays.asList(refA, refA)).make());
originalGenotypes.add(new GenotypeBuilder("het").alleles(Arrays.asList(refA, altC)).make());
originalGenotypes.add(new GenotypeBuilder("homvar").alleles(Arrays.asList(altC, altC)).make());
final Allele refT = Allele.create("T", true);
final Allele altG = Allele.create("G", false);
final GenotypesContext expectedGenotypes = GenotypesContext.create(3);
expectedGenotypes.add(new GenotypeBuilder("homref").alleles(Arrays.asList(refT, refT)).make());
expectedGenotypes.add(new GenotypeBuilder("het").alleles(Arrays.asList(refT, altG)).make());
expectedGenotypes.add(new GenotypeBuilder("homvar").alleles(Arrays.asList(altG, altG)).make());
final Map<Allele, Allele> reverseComplementAlleleMap = new HashMap<Allele, Allele>(2);
reverseComplementAlleleMap.put(refA, refT);
reverseComplementAlleleMap.put(altC, altG);
final GenotypesContext actualGenotypes =
LiftoverVcf.fixGenotypes(originalGenotypes, reverseComplementAlleleMap);
for (final String sample : Arrays.asList("homref", "het", "homvar")) {
final List<Allele> expected = expectedGenotypes.get(sample).getAlleles();
final List<Allele> actual = actualGenotypes.get(sample).getAlleles();
Assert.assertEquals(expected.get(0), actual.get(0));
Assert.assertEquals(expected.get(1), actual.get(1));
}
}