public void writeBeagleOutput(
VariantContext preferredVC, VariantContext otherVC, boolean isValidationSite, double prior) {
GenomeLoc currentLoc =
VariantContextUtils.getLocation(getToolkit().getGenomeLocParser(), preferredVC);
StringBuffer beagleOut = new StringBuffer();
String marker = String.format("%s:%d ", currentLoc.getContig(), currentLoc.getStart());
beagleOut.append(marker);
if (markers != null)
markers.append(marker).append("\t").append(Integer.toString(markerCounter++)).append("\t");
for (Allele allele : preferredVC.getAlleles()) {
String bglPrintString;
if (allele.isNoCall() || allele.isNull()) bglPrintString = "-";
else bglPrintString = allele.getBaseString(); // get rid of * in case of reference allele
beagleOut.append(String.format("%s ", bglPrintString));
if (markers != null) markers.append(bglPrintString).append("\t");
}
if (markers != null) markers.append("\n");
GenotypesContext preferredGenotypes = preferredVC.getGenotypes();
GenotypesContext otherGenotypes = goodSite(otherVC) ? otherVC.getGenotypes() : null;
for (String sample : samples) {
boolean isMaleOnChrX = CHECK_IS_MALE_ON_CHR_X && getSample(sample).getGender() == Gender.MALE;
Genotype genotype;
boolean isValidation;
// use sample as key into genotypes structure
if (preferredGenotypes.containsSample(sample)) {
genotype = preferredGenotypes.get(sample);
isValidation = isValidationSite;
} else if (otherGenotypes != null && otherGenotypes.containsSample(sample)) {
genotype = otherGenotypes.get(sample);
isValidation = !isValidationSite;
} else {
// there is magically no genotype for this sample.
throw new StingException(
"Sample "
+ sample
+ " arose with no genotype in variant or validation VCF. This should never happen.");
}
/*
* Use likelihoods if: is validation, prior is negative; or: is not validation, has genotype key
*/
double[] log10Likelihoods = null;
if ((isValidation && prior < 0.0) || genotype.hasLikelihoods()) {
log10Likelihoods = genotype.getLikelihoods().getAsVector();
// see if we need to randomly mask out genotype in this position.
if (GenomeAnalysisEngine.getRandomGenerator().nextDouble() <= insertedNoCallRate) {
// we are masking out this genotype
log10Likelihoods =
isMaleOnChrX ? HAPLOID_FLAT_LOG10_LIKELIHOODS : DIPLOID_FLAT_LOG10_LIKELIHOODS;
}
if (isMaleOnChrX) {
log10Likelihoods[1] = -255; // todo -- warning this is dangerous for multi-allele case
}
}
/** otherwise, use the prior uniformly */
else if (!isValidation && genotype.isCalled() && !genotype.hasLikelihoods()) {
// hack to deal with input VCFs with no genotype likelihoods. Just assume the called
// genotype
// is confident. This is useful for Hapmap and 1KG release VCFs.
double AA = (1.0 - prior) / 2.0;
double AB = (1.0 - prior) / 2.0;
double BB = (1.0 - prior) / 2.0;
if (genotype.isHomRef()) {
AA = prior;
} else if (genotype.isHet()) {
AB = prior;
} else if (genotype.isHomVar()) {
BB = prior;
}
log10Likelihoods = MathUtils.toLog10(new double[] {AA, isMaleOnChrX ? 0.0 : AB, BB});
} else {
log10Likelihoods =
isMaleOnChrX ? HAPLOID_FLAT_LOG10_LIKELIHOODS : DIPLOID_FLAT_LOG10_LIKELIHOODS;
}
writeSampleLikelihoods(beagleOut, preferredVC, log10Likelihoods);
}
beagleWriter.println(beagleOut.toString());
}
private Map<String, Object> annotateIndel(AlignmentContext stratifiedContext, VariantContext vc) {
if (!stratifiedContext.hasExtendedEventPileup()) {
return null;
}
ReadBackedExtendedEventPileup pileup = stratifiedContext.getExtendedEventPileup();
if (pileup == null) return null;
int totalDepth = pileup.size();
Map<String, Object> map = new HashMap<String, Object>();
map.put(getKeyNames().get(0), totalDepth); // put total depth in right away
if (totalDepth == 0) return map;
int mq0 = 0; // number of "ref" reads that are acually mq0
HashMap<String, Integer> alleleCounts = new HashMap<String, Integer>();
Allele refAllele = vc.getReference();
for (Allele allele : vc.getAlternateAlleles()) {
if (allele.isNoCall()) {
continue; // this does not look so good, should we die???
}
alleleCounts.put(getAlleleRepresentation(allele), 0);
}
for (ExtendedEventPileupElement e : pileup.toExtendedIterable()) {
if (e.getMappingQual() == 0) {
mq0++;
continue;
}
if (e.isInsertion()) {
final String b = e.getEventBases();
if (alleleCounts.containsKey(b)) {
alleleCounts.put(b, alleleCounts.get(b) + 1);
}
} else {
if (e.isDeletion()) {
if (e.getEventLength() == refAllele.length()) {
// this is indeed the deletion allele recorded in VC
final String b = DEL;
if (alleleCounts.containsKey(b)) {
alleleCounts.put(b, alleleCounts.get(b) + 1);
}
}
// else {
// System.out.print(" deletion of WRONG length found");
// }
}
}
}
if (mq0 == totalDepth) return map;
String[] fracs = new String[alleleCounts.size()];
for (int i = 0; i < vc.getAlternateAlleles().size(); i++)
fracs[i] =
String.format(
"%.3f",
((float) alleleCounts.get(getAlleleRepresentation(vc.getAlternateAllele(i))))
/ (totalDepth - mq0));
map.put(getKeyNames().get(1), fracs);
// map.put(getKeyNames().get(0), counts);
return map;
}
