@Test
  public void testWholeIndelReadInIsolation() {
    final int firstLocus = 44367789;

    // create a test version of the Reads object
    ReadProperties readAttributes = createTestReadProperties();

    SAMRecord indelOnlyRead =
        ArtificialSAMUtils.createArtificialRead(header, "indelOnly", 0, firstLocus, 76);
    indelOnlyRead.setReadBases(Utils.dupBytes((byte) 'A', 76));
    indelOnlyRead.setBaseQualities(Utils.dupBytes((byte) '@', 76));
    indelOnlyRead.setCigarString("76I");

    List<SAMRecord> reads = Arrays.asList(indelOnlyRead);

    // create the iterator by state with the fake reads and fake records
    li = makeLTBS(reads, readAttributes);

    // Traditionally, reads that end with indels bleed into the pileup at the following locus.
    // Verify that the next pileup contains this read
    // and considers it to be an indel-containing read.
    Assert.assertTrue(
        li.hasNext(),
        "Should have found a whole-indel read in the normal base pileup without extended events enabled");
    AlignmentContext alignmentContext = li.next();
    Assert.assertEquals(
        alignmentContext.getLocation().getStart(),
        firstLocus,
        "Base pileup is at incorrect location.");
    ReadBackedPileup basePileup = alignmentContext.getBasePileup();
    Assert.assertEquals(basePileup.getReads().size(), 1, "Pileup is of incorrect size");
    Assert.assertSame(basePileup.getReads().get(0), indelOnlyRead, "Read in pileup is incorrect");
  }
  @Test(dataProvider = "LIBSTest")
  public void testLIBS(LIBSTest params) {
    final int locus = 44367788;

    SAMRecord read =
        ArtificialSAMUtils.createArtificialRead(header, "read", 0, locus, params.readLength);
    read.setReadBases(Utils.dupBytes((byte) 'A', params.readLength));
    read.setBaseQualities(Utils.dupBytes((byte) '@', params.readLength));
    read.setCigarString(params.cigar);

    // create the iterator by state with the fake reads and fake records
    li = makeLTBS(Arrays.asList(read), createTestReadProperties());
    final LIBS_position tester = new LIBS_position(read);

    while (li.hasNext()) {
      AlignmentContext alignmentContext = li.next();
      ReadBackedPileup p = alignmentContext.getBasePileup();
      Assert.assertTrue(p.getNumberOfElements() == 1);
      PileupElement pe = p.iterator().next();

      tester.stepForwardOnGenome();

      Assert.assertEquals(pe.isBeforeDeletedBase(), tester.isBeforeDeletedBase);
      Assert.assertEquals(pe.isBeforeDeletionStart(), tester.isBeforeDeletionStart);
      Assert.assertEquals(pe.isAfterDeletedBase(), tester.isAfterDeletedBase);
      Assert.assertEquals(pe.isAfterDeletionEnd(), tester.isAfterDeletionEnd);
      Assert.assertEquals(pe.isBeforeInsertion(), tester.isBeforeInsertion);
      Assert.assertEquals(pe.isAfterInsertion(), tester.isAfterInsertion);
      Assert.assertEquals(pe.isNextToSoftClip(), tester.isNextToSoftClip);
      Assert.assertEquals(pe.getOffset(), tester.getCurrentReadOffset());
    }
  }
Exemplo n.º 3
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  @Override
  public String map(RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
    final String rods = getReferenceOrderedData(tracker);

    ReadBackedPileup basePileup = context.getBasePileup();

    final StringBuilder s = new StringBuilder();
    s.append(String.format("%s %s", basePileup.getPileupString((char) ref.getBase()), rods));
    if (SHOW_VERBOSE) s.append(" ").append(createVerboseOutput(basePileup));
    s.append("\n");

    return s.toString();
  }
Exemplo n.º 4
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  private Map<String, AlignmentContext> getFilteredAndStratifiedContexts(
      UnifiedArgumentCollection UAC,
      ReferenceContext refContext,
      AlignmentContext rawContext,
      final GenotypeLikelihoodsCalculationModel.Model model) {

    if (!BaseUtils.isRegularBase(refContext.getBase())) return null;

    Map<String, AlignmentContext> stratifiedContexts = null;

    if (model.name().contains("INDEL")) {

      final ReadBackedPileup pileup =
          rawContext.getBasePileup().getMappingFilteredPileup(UAC.MIN_BASE_QUALTY_SCORE);
      // don't call when there is no coverage
      if (pileup.getNumberOfElements() == 0 && UAC.OutputMode != OUTPUT_MODE.EMIT_ALL_SITES)
        return null;

      // stratify the AlignmentContext and cut by sample
      stratifiedContexts = AlignmentContextUtils.splitContextBySampleName(pileup);

    } else if (model.name().contains("SNP")) {

      // stratify the AlignmentContext and cut by sample
      stratifiedContexts =
          AlignmentContextUtils.splitContextBySampleName(rawContext.getBasePileup());

      if (!(UAC.OutputMode == OUTPUT_MODE.EMIT_ALL_SITES
          && UAC.GenotypingMode
              != GenotypeLikelihoodsCalculationModel.GENOTYPING_MODE.GENOTYPE_GIVEN_ALLELES)) {
        int numDeletions = 0;
        for (final PileupElement p : rawContext.getBasePileup()) {
          if (p.isDeletion()) numDeletions++;
        }
        if (((double) numDeletions) / ((double) rawContext.getBasePileup().getNumberOfElements())
            > UAC.MAX_DELETION_FRACTION) {
          return null;
        }
      }
    }

    return stratifiedContexts;
  }
  private Map<String, Object> annotateSNP(AlignmentContext stratifiedContext, VariantContext vc) {

    if (!stratifiedContext.hasBasePileup()) return null;

    HashMap<Byte, Integer> alleleCounts = new HashMap<Byte, Integer>();
    for (Allele allele : vc.getAlternateAlleles()) alleleCounts.put(allele.getBases()[0], 0);

    ReadBackedPileup pileup = stratifiedContext.getBasePileup();
    int totalDepth = pileup.size();

    Map<String, Object> map = new HashMap<String, Object>();
    map.put(getKeyNames().get(0), totalDepth); // put total depth in right away

    if (totalDepth == 0) return map; // done, can not compute FA at 0 coverage!!

    int mq0 = 0; // number of "ref" reads that are acually mq0
    for (PileupElement p : pileup) {
      if (p.getMappingQual() == 0) {
        mq0++;
        continue;
      }
      if (alleleCounts.containsKey(p.getBase())) // non-mq0 read and it's an alt
      alleleCounts.put(p.getBase(), alleleCounts.get(p.getBase()) + 1);
    }

    if (mq0 == totalDepth) return map; // if all reads are mq0, there is nothing left to do

    // we need to add counts in the correct order
    String[] fracs = new String[alleleCounts.size()];
    for (int i = 0; i < vc.getAlternateAlleles().size(); i++) {
      fracs[i] =
          String.format(
              "%.3f",
              ((float) alleleCounts.get(vc.getAlternateAllele(i).getBases()[0]))
                  / (totalDepth - mq0));
    }

    map.put(getKeyNames().get(1), fracs);
    return map;
  }
  @Test
  public void testXandEQOperators() {
    final byte[] bases1 = new byte[] {'A', 'A', 'A', 'A', 'A', 'A', 'A', 'A', 'A', 'A'};
    final byte[] bases2 = new byte[] {'A', 'A', 'A', 'C', 'A', 'A', 'A', 'A', 'A', 'C'};

    // create a test version of the Reads object
    ReadProperties readAttributes = createTestReadProperties();

    SAMRecord r1 = ArtificialSAMUtils.createArtificialRead(header, "r1", 0, 1, 10);
    r1.setReadBases(bases1);
    r1.setBaseQualities(new byte[] {20, 20, 20, 20, 20, 20, 20, 20, 20, 20});
    r1.setCigarString("10M");

    SAMRecord r2 = ArtificialSAMUtils.createArtificialRead(header, "r2", 0, 1, 10);
    r2.setReadBases(bases2);
    r2.setBaseQualities(new byte[] {20, 20, 20, 20, 20, 20, 20, 20, 20, 20, 20, 20});
    r2.setCigarString("3=1X5=1X");

    SAMRecord r3 = ArtificialSAMUtils.createArtificialRead(header, "r3", 0, 1, 10);
    r3.setReadBases(bases2);
    r3.setBaseQualities(new byte[] {20, 20, 20, 20, 20, 20, 20, 20, 20, 20, 20, 20});
    r3.setCigarString("3=1X5M1X");

    SAMRecord r4 = ArtificialSAMUtils.createArtificialRead(header, "r4", 0, 1, 10);
    r4.setReadBases(bases2);
    r4.setBaseQualities(new byte[] {20, 20, 20, 20, 20, 20, 20, 20, 20, 20});
    r4.setCigarString("10M");

    List<SAMRecord> reads = Arrays.asList(r1, r2, r3, r4);

    // create the iterator by state with the fake reads and fake records
    li = makeLTBS(reads, readAttributes);

    while (li.hasNext()) {
      AlignmentContext context = li.next();
      ReadBackedPileup pileup = context.getBasePileup();
      Assert.assertEquals(pileup.depthOfCoverage(), 4);
    }
  }
Exemplo n.º 7
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  private static String createVerboseOutput(final ReadBackedPileup pileup) {
    final StringBuilder sb = new StringBuilder();
    boolean isFirst = true;

    sb.append(pileup.getNumberOfDeletions());
    sb.append(" ");

    for (PileupElement p : pileup) {
      if (isFirst) isFirst = false;
      else sb.append(",");
      sb.append(p.getRead().getReadName());
      sb.append(verboseDelimiter);
      sb.append(p.getOffset());
      sb.append(verboseDelimiter);
      sb.append(p.getRead().getReadLength());
      sb.append(verboseDelimiter);
      sb.append(p.getRead().getMappingQuality());
    }
    return sb.toString();
  }
  /**
   * Test to make sure that reads supporting only an indel (example cigar string: 76I) are
   * represented properly
   */
  @Test
  public void testWholeIndelReadRepresentedTest() {
    final int firstLocus = 44367788, secondLocus = firstLocus + 1;

    SAMRecord read1 = ArtificialSAMUtils.createArtificialRead(header, "read1", 0, secondLocus, 1);
    read1.setReadBases(Utils.dupBytes((byte) 'A', 1));
    read1.setBaseQualities(Utils.dupBytes((byte) '@', 1));
    read1.setCigarString("1I");

    List<SAMRecord> reads = Arrays.asList(read1);

    // create the iterator by state with the fake reads and fake records
    li = makeLTBS(reads, createTestReadProperties());

    while (li.hasNext()) {
      AlignmentContext alignmentContext = li.next();
      ReadBackedPileup p = alignmentContext.getBasePileup();
      Assert.assertTrue(p.getNumberOfElements() == 1);
      PileupElement pe = p.iterator().next();
      Assert.assertTrue(pe.isBeforeInsertion());
      Assert.assertFalse(pe.isAfterInsertion());
      Assert.assertEquals(pe.getEventBases(), "A");
    }

    SAMRecord read2 = ArtificialSAMUtils.createArtificialRead(header, "read2", 0, secondLocus, 10);
    read2.setReadBases(Utils.dupBytes((byte) 'A', 10));
    read2.setBaseQualities(Utils.dupBytes((byte) '@', 10));
    read2.setCigarString("10I");

    reads = Arrays.asList(read2);

    // create the iterator by state with the fake reads and fake records
    li = makeLTBS(reads, createTestReadProperties());

    while (li.hasNext()) {
      AlignmentContext alignmentContext = li.next();
      ReadBackedPileup p = alignmentContext.getBasePileup();
      Assert.assertTrue(p.getNumberOfElements() == 1);
      PileupElement pe = p.iterator().next();
      Assert.assertTrue(pe.isBeforeInsertion());
      Assert.assertFalse(pe.isAfterInsertion());
      Assert.assertEquals(pe.getEventBases(), "AAAAAAAAAA");
    }
  }