Beispiel #1
0
  private void loadVCFListFile(ResourceLocator locator, List<Track> newTracks, Genome genome)
      throws IOException, TribbleIndexNotFoundException {

    TribbleListFeatureSource src = new TribbleListFeatureSource(locator.getPath(), genome);

    VCFHeader header = (VCFHeader) src.getHeader();

    // Test if the input VCF file contains methylation rate data:

    // This is determined by testing for the presence of two sample format fields: MR and GB, used
    // in the
    // rendering of methylation rate.
    // MR is the methylation rate on a scale of 0 to 100% and GB is the number of bases that pass
    // filter for the position. GB is needed to avoid displaying positions for which limited
    // coverage
    // prevents reliable estimation of methylation rate.
    boolean enableMethylationRateSupport =
        (header.getFormatHeaderLine("MR") != null && header.getFormatHeaderLine("GB") != null);

    List<String> allSamples = new ArrayList(header.getGenotypeSamples());

    VariantTrack t = new VariantTrack(locator, src, allSamples, enableMethylationRateSupport);

    // VCF tracks handle their own margin
    t.setMargin(0);
    newTracks.add(t);
  }
  @Override
  public void runCommand() {

    logger.info("MergeVCFColumnsCommand");
    /*
     * Assumptions
     * (1) Only two vcfs that are sorted with the same contig order
     * (2) if contigs on it same order, then we will just skip that contig
     * (3) No overlapping samples allowed
     *
     * Output:
     * A vcf where intersecting sites are merged together and will only return biallelic markers
     * the info field will be cleared
     * the only GT FORMAT field will be there
     */

    Collection<File> vcfs = applicationOptions.getVcfs();
    String outfile = applicationOptions.getOutFile();

    if (vcfs.size() != 2) {
      throw new IllegalArgumentException("This function requires exactly two vcfs");
    }

    Iterator<File> vcfFileIter = vcfs.iterator();

    File vcf1 = vcfFileIter.next();
    File vcf2 = vcfFileIter.next();
    VCFFileReader reader1 = new VCFFileReader(vcf1, false);
    VCFFileReader reader2 = new VCFFileReader(vcf2, false);

    Iterator<VariantContext> iter1 = reader1.iterator();
    Iterator<VariantContext> iter2 = reader2.iterator();

    VariantContextComparator comparator = new VariantContextComparator();

    /*
     * Merge headers
     */
    VCFHeader header1 = reader1.getFileHeader();

    VCFHeader header2 = reader2.getFileHeader();

    List<String> samples1 = header1.getGenotypeSamples();
    List<String> samples2 = header2.getGenotypeSamples();

    List<String> mergedSamples = new ArrayList<>(samples1.size() + samples2.size());
    mergedSamples.addAll(samples1);
    mergedSamples.addAll(samples2);

    // Validate that there are no duplicates
    HashSet<String> sampleSet = new HashSet<String>();
    for (String id : mergedSamples) {
      if (sampleSet.contains(id)) {
        throw new IllegalArgumentException("Duplicate id found: " + id);
      } else {
        sampleSet.add(id);
      }
    }

    HashSet<VCFHeaderLine> meta = new HashSet<>();
    meta.add(new VCFFormatHeaderLine("GT", 1, VCFHeaderLineType.String, "GT"));
    meta.addAll(header1.getContigLines());
    VCFHeader mergedHeader = new VCFHeader(meta, mergedSamples);

    /*
     * Create encoder
     */
    VCFEncoder encoder = new VCFEncoder(mergedHeader, false, false);

    BufferedWriter writer = null;
    try {
      if (outfile.endsWith(".gz")) {
        BlockCompressedOutputStream outstream = new BlockCompressedOutputStream(new File(outfile));
        writer = new BufferedWriter(new OutputStreamWriter(outstream));
      } else {
        writer =
            Files.newBufferedWriter(
                Paths.get(outfile),
                Charset.defaultCharset(),
                StandardOpenOption.CREATE,
                StandardOpenOption.TRUNCATE_EXISTING);
      }

      /*
       * Write header
       */
      VCFHeaderWriter.writeHeader(writer, mergedHeader);
      logger.info("Wrote header");

      VariantContext previous1 = null;
      VariantContext previous2 = null;

      int count = 0;

      int countFile1 = 0;
      int countFile2 = 0;

      boolean usePrevious1 = false;
      boolean usePrevious2 = false;
      while (iter1.hasNext() || iter2.hasNext()) {

        if ((iter1.hasNext() || usePrevious1) && (iter2.hasNext() || usePrevious2)) {

          VariantContext variant1 = null;

          VariantContext variant2 = null;

          //					if(usePrevious1 == true && usePrevious2 == true &&
          // comparator.compare(previous1,previous2) != 0) {
          //						//then skip both
          //						usePrevious1 = false;
          //						usePrevious2 = false;
          //					}

          if (usePrevious1) {
            variant1 = previous1;
          } else {
            variant1 = iter1.next();
            countFile1++;
          }

          if (usePrevious2) {
            variant2 = previous2;
          } else {
            variant2 = iter2.next();
            countFile2++;
          }

          // check that variants are ordered correctly
          if (previous1 != null
              && previous1 != variant1
              && comparator.compare(previous1, variant1) > 0) {
            throw new IllegalStateException(
                previous1.getContig()
                    + ":"
                    + previous1.getStart()
                    + " > "
                    + variant1.getContig()
                    + ":"
                    + variant1.getStart());
          }

          if (previous2 != null
              && previous2 != variant2
              && comparator.compare(previous2, variant2) > 0) {
            throw new IllegalStateException(
                previous2.getContig()
                    + ":"
                    + previous2.getStart()
                    + " > "
                    + variant2.getContig()
                    + ":"
                    + variant2.getStart());
          }

          int cmp = comparator.compare(variant1, variant2);

          if (cmp < 0) {
            // logger.info("Skipping VCF1: " + variant1.getContig() + ":" + variant1.getStart() +
            // "\t" + variant1.getReference().toString() +  "\t" + variant1.getAlternateAlleles());

            if (usePrevious1 == true && usePrevious2 == true) {
              // variant1 < variant2
              // we need to go to next variant in vcf1
              usePrevious1 = false;
            }

            usePrevious2 = true;
          } else if (cmp > 0) {

            if (usePrevious1 == true && usePrevious2 == true) {
              // variant1 > variant2
              // we need to go to next variant in vcf2
              usePrevious2 = false;
            }

            usePrevious1 = true;
            // logger.info("Skipping VCF2: " + variant2.getContig() + ":" + variant2.getStart() +
            // "\t" + variant2.getReference().toString() +  "\t" + variant2.getAlternateAlleles());
          } else {
            // they equal position
            usePrevious1 = false;
            usePrevious2 = false;

            if (variant1.isBiallelic()
                && variant2.isBiallelic()
                && variant1.getReference().equals(variant2.getReference())
                && variant1.getAlternateAllele(0).equals(variant2.getAlternateAllele(0))) {

              // TODO: Finish merging
              // both variants are bialleleic and the reference and alternative alleles match

              count++;
              if (count % 10000 == 0) {
                logger.info(count + " mergeable variants found");
              }

              VariantContext merged = VariantContextMerger.merge(variant1, variant2);

              writer.write(encoder.encode(merged));
              writer.write("\n");

            } else {
              // skip if they do not equal

              //			logger.info("Skipping: " + variant1.getContig() + ":" + variant1.getStart() +
              // "\t" + variant1.getReference().toString() +  "\t" +
              // variant1.getAlternateAlleles());
              //			logger.info("Skipping: " + variant2.getContig() + ":" + variant2.getStart() +
              // "\t" + variant2.getReference().toString() +  "\t" +
              // variant2.getAlternateAlleles());
            }
          }

          previous1 = variant1;
          previous2 = variant2;
        } else if (iter1.hasNext()) {
          // just skip remaining variants
          VariantContext current = iter1.next();
          countFile1++;

          if (previous1 != null && current != null && comparator.compare(previous1, current) > 0) {
            throw new IllegalStateException(
                previous1.getContig()
                    + ":"
                    + previous1.getStart()
                    + " > "
                    + current.getContig()
                    + ":"
                    + current.getStart());
          }

          previous1 = current;

          // logger.info("Skipping: " + previous1.getContig() + ":" + previous1.getStart() + "\t" +
          // previous1.getReference().toString() +  "\t" + previous1.getAlternateAlleles());

        } else if (iter2.hasNext()) {
          // just skip remaining variants
          // fixed bug/ was iter1 changed to iter2
          VariantContext current = iter2.next();
          countFile2++;

          if (previous2 != null && current != null && comparator.compare(previous2, current) > 0) {
            throw new IllegalStateException(
                previous2.getContig()
                    + ":"
                    + previous2.getStart()
                    + " > "
                    + current.getContig()
                    + ":"
                    + current.getStart());
          }

          previous2 = current;

          // logger.info("Skipping: " + previous2.getContig() + ":" + previous2.getStart() + "\t" +
          // previous2.getReference().toString() +  "\t" + previous2.getAlternateAlleles());
        } else {
          throw new IllegalStateException("Error should not of reached this point");
        }
      }

      reader1.close();
      reader2.close();

      logger.info(count + "  merged variants");
      logger.info(countFile1 + "  variants in " + vcf1.getAbsolutePath());
      logger.info(countFile2 + "  variants in " + vcf2.getAbsolutePath());

    } catch (Exception e) {
      e.printStackTrace();
    } finally {
      if (writer != null) {
        try {
          logger.info("Flushing writer");
          writer.close();
        } catch (IOException e) {
          // TODO Auto-generated catch block
          e.printStackTrace();
        }
      }
    }

    logger.info("finished merging vcfs");
  }