/**
   * Returns a context identical to this with the REF and ALT alleles reverse complemented.
   *
   * @param vc variant context
   * @return new vc
   */
  public static VariantContext reverseComplement(VariantContext vc) {
    // create a mapping from original allele to reverse complemented allele
    HashMap<Allele, Allele> alleleMap = new HashMap<Allele, Allele>(vc.getAlleles().size());
    for (Allele originalAllele : vc.getAlleles()) {
      Allele newAllele;
      if (originalAllele.isNoCall() || originalAllele.isNull()) newAllele = originalAllele;
      else
        newAllele =
            Allele.create(
                BaseUtils.simpleReverseComplement(originalAllele.getBases()),
                originalAllele.isReference());
      alleleMap.put(originalAllele, newAllele);
    }

    // create new Genotype objects
    GenotypesContext newGenotypes = GenotypesContext.create(vc.getNSamples());
    for (final Genotype genotype : vc.getGenotypes()) {
      List<Allele> newAlleles = new ArrayList<Allele>();
      for (Allele allele : genotype.getAlleles()) {
        Allele newAllele = alleleMap.get(allele);
        if (newAllele == null) newAllele = Allele.NO_CALL;
        newAlleles.add(newAllele);
      }
      newGenotypes.add(Genotype.modifyAlleles(genotype, newAlleles));
    }

    return new VariantContextBuilder(vc).alleles(alleleMap.values()).genotypes(newGenotypes).make();
  }
예제 #2
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  /**
   * Returns the number of chromosomes carrying any allele in the genotypes (i.e., excluding
   * NO_CALLS)
   *
   * @return chromosome count
   */
  public int getCalledChrCount() {
    int n = 0;

    for (final Genotype g : getGenotypes()) {
      for (final Allele a : g.getAlleles()) n += a.isNoCall() ? 0 : 1;
    }

    return n;
  }
예제 #3
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  private void validateAlleles() {
    // check alleles
    boolean alreadySeenRef = false, alreadySeenNull = false;
    for (Allele allele : alleles) {
      // make sure there's only one reference allele
      if (allele.isReference()) {
        if (alreadySeenRef)
          throw new IllegalArgumentException(
              "BUG: Received two reference tagged alleles in VariantContext "
                  + alleles
                  + " this="
                  + this);
        alreadySeenRef = true;
      }

      if (allele.isNoCall()) {
        throw new IllegalArgumentException(
            "BUG: Cannot add a no call allele to a variant context " + alleles + " this=" + this);
      }

      // make sure there's only one null allele
      if (allele.isNull()) {
        if (alreadySeenNull)
          throw new IllegalArgumentException(
              "BUG: Received two null alleles in VariantContext " + alleles + " this=" + this);
        alreadySeenNull = true;
      }
    }

    // make sure there's one reference allele
    if (!alreadySeenRef)
      throw new IllegalArgumentException("No reference allele found in VariantContext");

    //        if ( getType() == Type.INDEL ) {
    //            if ( getReference().length() != (getLocation().size()-1) ) {
    long length = (stop - start) + 1;
    if ((getReference().isNull() && length != 1)
        || (getReference().isNonNull() && (length - getReference().length() > 1))) {
      throw new IllegalStateException(
          "BUG: GenomeLoc "
              + contig
              + ":"
              + start
              + "-"
              + stop
              + " has a size == "
              + length
              + " but the variation reference allele has length "
              + getReference().length()
              + " this = "
              + this);
    }
  }
예제 #4
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  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());
  }