Пример #1
0
 private void outputMissingInterval(final IntervalStratification stats) {
   final GenomeLoc interval = stats.getInterval();
   final boolean missing[] = new boolean[interval.size()];
   Arrays.fill(missing, true);
   for (AbstractStratification sample : stats.getElements()) {
     if (hasMissingStatuses(sample)) {
       int pos = 0;
       for (AbstractStratification locus : sample.getElements()) {
         if (locus.callableStatuses().isEmpty()) {
           missing[pos] = false;
         }
         pos++;
       }
     }
   }
   int start = -1;
   boolean insideMissing = false;
   for (int i = 0; i < missing.length; i++) {
     if (missing[i] && !insideMissing) {
       start = interval.getStart() + i;
       insideMissing = true;
     } else if (!missing[i] && insideMissing) {
       final int stop = interval.getStart() + i - 1;
       outputMissingInterval(interval.getContig(), start, stop);
       insideMissing = false;
     }
   }
   if (insideMissing) {
     outputMissingInterval(interval.getContig(), start, interval.getStop());
   }
 }
Пример #2
0
  @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));
    }
  }
Пример #3
0
  private void writeRecord(VariantContext vc, RefMetaDataTracker tracker, GenomeLoc loc) {
    if (!wroteHeader) {
      wroteHeader = true;

      // setup the header fields
      Set<VCFHeaderLine> hInfo = new HashSet<VCFHeaderLine>();
      hInfo.addAll(GATKVCFUtils.getHeaderFields(getToolkit(), Arrays.asList(variants.getName())));
      hInfo.add(VCFStandardHeaderLines.getFormatLine(VCFConstants.GENOTYPE_KEY));

      allowedGenotypeFormatStrings.add(VCFConstants.GENOTYPE_KEY);
      for (VCFHeaderLine field : hInfo) {
        if (field instanceof VCFFormatHeaderLine) {
          allowedGenotypeFormatStrings.add(((VCFFormatHeaderLine) field).getID());
        }
      }

      samples = new LinkedHashSet<String>();
      if (sampleName != null) {
        samples.add(sampleName);
      } else {
        // try VCF first
        samples =
            SampleUtils.getSampleListWithVCFHeader(getToolkit(), Arrays.asList(variants.getName()));

        if (samples.isEmpty()) {
          List<Feature> features = tracker.getValues(variants, loc);
          if (features.size() == 0)
            throw new IllegalStateException(
                "No rod data is present, but we just created a VariantContext");

          Feature f = features.get(0);
          if (f instanceof RawHapMapFeature)
            samples.addAll(Arrays.asList(((RawHapMapFeature) f).getSampleIDs()));
          else samples.addAll(vc.getSampleNames());
        }
      }

      vcfwriter.writeHeader(new VCFHeader(hInfo, samples));
    }

    vc = GATKVariantContextUtils.purgeUnallowedGenotypeAttributes(vc, allowedGenotypeFormatStrings);
    vcfwriter.add(vc);
  }