예제 #1
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  @Requires({
    "toolkit != null",
    "UAC != null",
    "logger != null",
    "samples != null && samples.size() > 0",
    "ploidy>0"
  })
  public UnifiedGenotyperEngine(
      GenomeAnalysisEngine toolkit,
      UnifiedArgumentCollection UAC,
      Logger logger,
      PrintStream verboseWriter,
      VariantAnnotatorEngine engine,
      Set<String> samples,
      int ploidy) {
    this.BAQEnabledOnCMDLine = toolkit.getArguments().BAQMode != BAQ.CalculationMode.OFF;
    genomeLocParser = toolkit.getGenomeLocParser();
    this.samples = new TreeSet<String>(samples);
    // note that, because we cap the base quality by the mapping quality, minMQ cannot be less than
    // minBQ
    this.UAC = UAC;

    this.logger = logger;
    this.verboseWriter = verboseWriter;
    this.annotationEngine = engine;

    this.ploidy = ploidy;
    this.N = samples.size() * ploidy;
    log10AlleleFrequencyPriorsSNPs = new double[N + 1];
    log10AlleleFrequencyPriorsIndels = new double[N + 1];
    computeAlleleFrequencyPriors(N, log10AlleleFrequencyPriorsSNPs, UAC.heterozygosity);
    computeAlleleFrequencyPriors(N, log10AlleleFrequencyPriorsIndels, UAC.INDEL_HETEROZYGOSITY);

    filter.add(LOW_QUAL_FILTER_NAME);
  }
예제 #2
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  private void initializeVcfWriter() {
    final List<String> inputNames = Arrays.asList(validation.getName());

    // setup the header fields
    Set<VCFHeaderLine> hInfo = new HashSet<VCFHeaderLine>();
    hInfo.addAll(VCFUtils.getHeaderFields(getToolkit(), inputNames));
    hInfo.add(
        new VCFFilterHeaderLine(
            "bootstrap",
            "This site used for genotype bootstrapping with ProduceBeagleInputWalker"));

    bootstrapVCFOutput.writeHeader(
        new VCFHeader(hInfo, SampleUtils.getUniqueSamplesFromRods(getToolkit(), inputNames)));
  }
예제 #3
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  private VariantCallContext generateEmptyContext(
      RefMetaDataTracker tracker,
      ReferenceContext ref,
      Map<String, AlignmentContext> stratifiedContexts,
      AlignmentContext rawContext) {
    VariantContext vc;
    if (UAC.GenotypingMode
        == GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES) {
      VariantContext vcInput =
          UnifiedGenotyperEngine.getVCFromAllelesRod(
              tracker, ref, rawContext.getLocation(), false, logger, UAC.alleles);
      if (vcInput == null) return null;
      vc =
          new VariantContextBuilder(
                  "UG_call",
                  ref.getLocus().getContig(),
                  vcInput.getStart(),
                  vcInput.getEnd(),
                  vcInput.getAlleles())
              .make();
    } else {
      // deal with bad/non-standard reference bases
      if (!Allele.acceptableAlleleBases(new byte[] {ref.getBase()})) return null;

      Set<Allele> alleles = new HashSet<Allele>();
      alleles.add(Allele.create(ref.getBase(), true));
      vc =
          new VariantContextBuilder(
                  "UG_call",
                  ref.getLocus().getContig(),
                  ref.getLocus().getStart(),
                  ref.getLocus().getStart(),
                  alleles)
              .make();
    }

    if (annotationEngine != null) {
      // Note: we want to use the *unfiltered* and *unBAQed* context for the annotations
      final ReadBackedPileup pileup = rawContext.getBasePileup();
      stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(pileup);

      vc = annotationEngine.annotateContext(tracker, ref, stratifiedContexts, vc);
    }

    return new VariantCallContext(vc, false);
  }