private Collection<VariantContext> getVariantContexts(
RefMetaDataTracker tracker, ReferenceContext ref) {
List<Feature> features = tracker.getValues(variants, ref.getLocus());
List<VariantContext> VCs = new ArrayList<VariantContext>(features.size());
for (Feature record : features) {
if (VariantContextAdaptors.canBeConvertedToVariantContext(record)) {
// we need to special case the HapMap format because indels aren't handled correctly
if (record instanceof RawHapMapFeature) {
// is it an indel?
RawHapMapFeature hapmap = (RawHapMapFeature) record;
if (hapmap.getAlleles()[0].equals(RawHapMapFeature.NULL_ALLELE_STRING)
|| hapmap.getAlleles()[1].equals(RawHapMapFeature.NULL_ALLELE_STRING)) {
// get the dbsnp object corresponding to this record (needed to help us distinguish
// between insertions and deletions)
VariantContext dbsnpVC = getDbsnp(hapmap.getName());
if (dbsnpVC == null || dbsnpVC.isMixed()) continue;
Map<String, Allele> alleleMap = new HashMap<String, Allele>(2);
alleleMap.put(
RawHapMapFeature.DELETION,
Allele.create(ref.getBase(), dbsnpVC.isSimpleInsertion()));
alleleMap.put(
RawHapMapFeature.INSERTION,
Allele.create(
(char) ref.getBase() + ((RawHapMapFeature) record).getAlleles()[1],
!dbsnpVC.isSimpleInsertion()));
hapmap.setActualAlleles(alleleMap);
// also, use the correct positioning for insertions
hapmap.updatePosition(dbsnpVC.getStart());
if (hapmap.getStart() < ref.getWindow().getStart()) {
logger.warn(
"Hapmap record at "
+ ref.getLocus()
+ " represents an indel too large to be converted; skipping...");
continue;
}
}
}
// ok, we might actually be able to turn this record in a variant context
VariantContext vc =
VariantContextAdaptors.toVariantContext(variants.getName(), record, ref);
if (vc != null) // sometimes the track has odd stuff in it that can't be converted
VCs.add(vc);
}
}
return VCs;
}
/**
* Process all remaining intervals
*
* @param result number of loci processed by the walker
*/
@Override
public void onTraversalDone(final Long result) {
for (GenomeLoc interval : intervalMap.keySet())
outputStatsToVCF(intervalMap.get(interval), UNCOVERED_ALLELE);
GenomeLoc interval = intervalListIterator.peek();
while (interval != null) {
outputStatsToVCF(createIntervalStatistic(interval), UNCOVERED_ALLELE);
intervalListIterator.next();
interval = intervalListIterator.peek();
}
if (thresholds.missingTargets != null) {
thresholds.missingTargets.close();
}
}
/**
* Adds all intervals that overlap the current reference locus to the intervalMap
*
* @param refLocus the current reference locus
*/
private void addNewOverlappingIntervals(final GenomeLoc refLocus) {
GenomeLoc interval = intervalListIterator.peek();
while (interval != null && !interval.isPast(refLocus)) {
intervalMap.put(interval, createIntervalStatistic(interval));
intervalListIterator.next();
interval = intervalListIterator.peek();
}
}
/**
* Outputs all intervals that are behind the current reference locus
*
* @param refLocus the current reference locus
* @param refBase the reference allele
*/
private void outputFinishedIntervals(final GenomeLoc refLocus, final byte refBase) {
// output any intervals that were finished
final List<GenomeLoc> toRemove = new LinkedList<>();
for (GenomeLoc key : intervalMap.keySet()) {
if (key.isBefore(refLocus)) {
final IntervalStratification intervalStats = intervalMap.get(key);
outputStatsToVCF(intervalStats, Allele.create(refBase, true));
if (hasMissingLoci(intervalStats)) {
outputMissingInterval(intervalStats);
}
toRemove.add(key);
}
}
for (GenomeLoc key : toRemove) {
intervalMap.remove(key);
}
}
/**
* Takes the interval, finds it in the stash, prints it to the VCF
*
* @param stats The statistics of the interval
* @param refAllele the reference allele
*/
private void outputStatsToVCF(final IntervalStratification stats, final Allele refAllele) {
GenomeLoc interval = stats.getInterval();
final List<Allele> alleles = new ArrayList<>();
final Map<String, Object> attributes = new HashMap<>();
final ArrayList<Genotype> genotypes = new ArrayList<>();
for (String sample : samples) {
final GenotypeBuilder gb = new GenotypeBuilder(sample);
SampleStratification sampleStat = stats.getSampleStatistics(sample);
gb.attribute(
GATKVCFConstants.AVG_INTERVAL_DP_BY_SAMPLE_KEY,
sampleStat.averageCoverage(interval.size()));
gb.attribute(GATKVCFConstants.LOW_COVERAGE_LOCI, sampleStat.getNLowCoveredLoci());
gb.attribute(GATKVCFConstants.ZERO_COVERAGE_LOCI, sampleStat.getNUncoveredLoci());
gb.filters(statusToStrings(stats.getSampleStatistics(sample).callableStatuses(), false));
genotypes.add(gb.make());
}
alleles.add(refAllele);
alleles.add(SYMBOLIC_ALLELE);
VariantContextBuilder vcb =
new VariantContextBuilder(
"DiagnoseTargets",
interval.getContig(),
interval.getStart(),
interval.getStop(),
alleles);
vcb = vcb.log10PError(VariantContext.NO_LOG10_PERROR);
vcb.filters(new LinkedHashSet<>(statusToStrings(stats.callableStatuses(), true)));
attributes.put(VCFConstants.END_KEY, interval.getStop());
attributes.put(GATKVCFConstants.AVG_INTERVAL_DP_KEY, stats.averageCoverage(interval.size()));
attributes.put(GATKVCFConstants.INTERVAL_GC_CONTENT_KEY, stats.gcContent());
vcb = vcb.attributes(attributes);
vcb = vcb.genotypes(genotypes);
vcfWriter.add(vcb.make());
}
/**
* For each variant in the file, determine the phasing for the child and replace the child's
* genotype with the trio's genotype
*
* @param tracker the reference meta-data tracker
* @param ref the reference context
* @param context the alignment context
* @return null
*/
@Override
public Integer map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
if (tracker != null) {
for (VariantContext vc :
tracker.getValues(variantCollection.variants, context.getLocation())) {
vc = vc.subContextFromSamples(samples);
if (!vc.isPolymorphicInSamples()) continue;
double log10pSomatic = calcLog10pSomatic(vc);
// write in the somatic status probability
Map<String, Object> attrs = new HashMap<String, Object>(); // vc.getAttributes());
if (!minimalVCF) attrs.putAll(vc.getAttributes());
attrs.put(SOMATIC_LOD_TAG_NAME, log10pSomatic);
if (log10pSomatic > somaticMinLOD) {
attrs.put(VCFConstants.SOMATIC_KEY, true);
attrs.put(SOMATIC_NONREF_TAG_NAME, calculateTumorNNR(vc));
attrs.put(SOMATIC_AC_TAG_NAME, calculateTumorAC(vc));
}
final VariantContextBuilder builder = new VariantContextBuilder(vc).attributes(attrs);
VariantContextUtils.calculateChromosomeCounts(builder, false);
VariantContext newvc = builder.make();
vcfWriter.add(newvc);
}
return null;
}
return null;
}
@Override
public Long map(
final RefMetaDataTracker tracker,
final ReferenceContext ref,
final AlignmentContext context) {
GenomeLoc refLocus = ref.getLocus();
// process and remove any intervals in the map that are don't overlap the current locus anymore
// and add all new intervals that may overlap this reference locus
addNewOverlappingIntervals(refLocus);
outputFinishedIntervals(refLocus, ref.getBase());
// at this point, all intervals in intervalMap overlap with this locus, so update all of them
for (IntervalStratification intervalStratification : intervalMap.values())
intervalStratification.addLocus(context, ref);
return 1L;
}
private void addAnnotation(Map<String, Object> annotations, String keyName, String keyValue) {
// Only add annotations for keys associated with non-empty values:
if (keyValue != null && keyValue.trim().length() > 0) {
annotations.put(keyName, keyValue);
}
}
