Examples with KBestHaplotype org.broadinstitute.hellbender.tools.walkers.haplotypecaller.graphs.KBestHaplotype used on opensource projects

Example 1 with KBestHaplotype

use of org.broadinstitute.hellbender.tools.walkers.haplotypecaller.graphs.KBestHaplotype in project gatk by broadinstitute.

the class ReadThreadingGraphUnitTest method testDanglingHeads.

@Test(dataProvider = "DanglingHeads")
public void testDanglingHeads(final String ref, final String alt, final String cigar, final boolean shouldBeMerged) {
    final int kmerSize = 5;
    // create the graph and populate it
    final ReadThreadingGraph rtgraph = new ReadThreadingGraph(kmerSize);
    rtgraph.addSequence("ref", ref.getBytes(), true);
    final GATKRead read = ArtificialReadUtils.createArtificialRead(alt.getBytes(), Utils.dupBytes((byte) 30, alt.length()), alt.length() + "M");
    final SAMFileHeader header = ArtificialReadUtils.createArtificialSamHeader();
    rtgraph.addRead(read, header);
    rtgraph.setMaxMismatchesInDanglingHead(10);
    rtgraph.buildGraphIfNecessary();
    // confirm that we have just a single dangling head
    MultiDeBruijnVertex altSource = null;
    for (final MultiDeBruijnVertex v : rtgraph.vertexSet()) {
        if (rtgraph.isSource(v) && !rtgraph.isReferenceNode(v)) {
            Assert.assertTrue(altSource == null, "We found more than one non-reference source");
            altSource = v;
        }
    }
    Assert.assertTrue(altSource != null, "We did not find a non-reference source");
    // confirm that the SW alignment agrees with our expectations
    final ReadThreadingGraph.DanglingChainMergeHelper result = rtgraph.generateCigarAgainstUpwardsReferencePath(altSource, 0, 1);
    if (result == null) {
        Assert.assertFalse(shouldBeMerged);
        return;
    }
    Assert.assertTrue(cigar.equals(result.cigar.toString()), "SW generated cigar = " + result.cigar.toString());
    // confirm that the tail merging works as expected
    final int mergeResult = rtgraph.mergeDanglingHead(result);
    Assert.assertTrue(mergeResult > 0 || !shouldBeMerged);
    // confirm that we created the appropriate bubble in the graph only if expected
    rtgraph.cleanNonRefPaths();
    final SeqGraph seqGraph = rtgraph.toSequenceGraph();
    final List<KBestHaplotype> paths = new KBestHaplotypeFinder(seqGraph, seqGraph.getReferenceSourceVertex(), seqGraph.getReferenceSinkVertex());
    Assert.assertEquals(paths.size(), shouldBeMerged ? 2 : 1);
}

Example 2 with KBestHaplotype

use of org.broadinstitute.hellbender.tools.walkers.haplotypecaller.graphs.KBestHaplotype in project gatk by broadinstitute.

the class ReadThreadingAssemblerUnitTest method testMismatchInFirstKmer.

@Test
public void testMismatchInFirstKmer() {
    final TestAssembler assembler = new TestAssembler(3);
    final String ref = "ACAACTGA";
    final String alt = "AGCTGA";
    assembler.addSequence(ref.getBytes(), true);
    assembler.addSequence(alt.getBytes(), false);
    final SeqGraph graph = assembler.assemble();
    graph.simplifyGraph();
    graph.removeSingletonOrphanVertices();
    final Set<SeqVertex> sources = graph.getSources();
    final Set<SeqVertex> sinks = graph.getSinks();
    Assert.assertEquals(sources.size(), 1);
    Assert.assertEquals(sinks.size(), 1);
    Assert.assertNotNull(graph.getReferenceSourceVertex());
    Assert.assertNotNull(graph.getReferenceSinkVertex());
    final List<KBestHaplotype> paths = new KBestHaplotypeFinder(graph);
    Assert.assertEquals(paths.size(), 1);
}

Example 3 with KBestHaplotype

use of org.broadinstitute.hellbender.tools.walkers.haplotypecaller.graphs.KBestHaplotype in project gatk-protected by broadinstitute.

the class ReadThreadingAssemblerUnitTest method testMismatchInFirstKmer.

@Test
public void testMismatchInFirstKmer() {
    final TestAssembler assembler = new TestAssembler(3);
    final String ref = "ACAACTGA";
    final String alt = "AGCTGA";
    assembler.addSequence(ref.getBytes(), true);
    assembler.addSequence(alt.getBytes(), false);
    final SeqGraph graph = assembler.assemble();
    graph.simplifyGraph();
    graph.removeSingletonOrphanVertices();
    final Set<SeqVertex> sources = graph.getSources();
    final Set<SeqVertex> sinks = graph.getSinks();
    Assert.assertEquals(sources.size(), 1);
    Assert.assertEquals(sinks.size(), 1);
    Assert.assertNotNull(graph.getReferenceSourceVertex());
    Assert.assertNotNull(graph.getReferenceSinkVertex());
    final List<KBestHaplotype> paths = new KBestHaplotypeFinder(graph);
    Assert.assertEquals(paths.size(), 1);
}

Example 4 with KBestHaplotype

use of org.broadinstitute.hellbender.tools.walkers.haplotypecaller.graphs.KBestHaplotype in project gatk-protected by broadinstitute.

the class ReadThreadingAssemblerUnitTest method assertSingleBubble.

private void assertSingleBubble(final TestAssembler assembler, final String one, final String two) {
    final SeqGraph graph = assembler.assemble();
    graph.simplifyGraph();
    final List<KBestHaplotype> paths = new KBestHaplotypeFinder(graph);
    Assert.assertEquals(paths.size(), 2);
    final Set<String> expected = new HashSet<>(Arrays.asList(one, two));
    for (final KBestHaplotype path : paths) {
        final String seq = new String(path.bases());
        Assert.assertTrue(expected.contains(seq));
        expected.remove(seq);
    }
}

Example 5 with KBestHaplotype

use of org.broadinstitute.hellbender.tools.walkers.haplotypecaller.graphs.KBestHaplotype in project gatk-protected by broadinstitute.

the class ReadThreadingGraphUnitTest method testDanglingHeads.

@Test(dataProvider = "DanglingHeads")
public void testDanglingHeads(final String ref, final String alt, final String cigar, final boolean shouldBeMerged) {
    final int kmerSize = 5;
    // create the graph and populate it
    final ReadThreadingGraph rtgraph = new ReadThreadingGraph(kmerSize);
    rtgraph.addSequence("ref", ref.getBytes(), true);
    final GATKRead read = ArtificialReadUtils.createArtificialRead(alt.getBytes(), Utils.dupBytes((byte) 30, alt.length()), alt.length() + "M");
    final SAMFileHeader header = ArtificialReadUtils.createArtificialSamHeader();
    rtgraph.addRead(read, header);
    rtgraph.setMaxMismatchesInDanglingHead(10);
    rtgraph.buildGraphIfNecessary();
    // confirm that we have just a single dangling head
    MultiDeBruijnVertex altSource = null;
    for (final MultiDeBruijnVertex v : rtgraph.vertexSet()) {
        if (rtgraph.isSource(v) && !rtgraph.isReferenceNode(v)) {
            Assert.assertTrue(altSource == null, "We found more than one non-reference source");
            altSource = v;
        }
    }
    Assert.assertTrue(altSource != null, "We did not find a non-reference source");
    // confirm that the SW alignment agrees with our expectations
    final ReadThreadingGraph.DanglingChainMergeHelper result = rtgraph.generateCigarAgainstUpwardsReferencePath(altSource, 0, 1);
    if (result == null) {
        Assert.assertFalse(shouldBeMerged);
        return;
    }
    Assert.assertTrue(cigar.equals(result.cigar.toString()), "SW generated cigar = " + result.cigar.toString());
    // confirm that the tail merging works as expected
    final int mergeResult = rtgraph.mergeDanglingHead(result);
    Assert.assertTrue(mergeResult > 0 || !shouldBeMerged);
    // confirm that we created the appropriate bubble in the graph only if expected
    rtgraph.cleanNonRefPaths();
    final SeqGraph seqGraph = rtgraph.toSequenceGraph();
    final List<KBestHaplotype> paths = new KBestHaplotypeFinder(seqGraph, seqGraph.getReferenceSourceVertex(), seqGraph.getReferenceSinkVertex());
    Assert.assertEquals(paths.size(), shouldBeMerged ? 2 : 1);
}