Bugfix for ReferenceConfidenceModel
-- In the case where there's some variation to assembly and evaluate but the resulting haplotypes don't result in any called variants, the reference model would exception out with "java.lang.IllegalArgumentException: calledHaplotypes must contain the refHaplotype". Now we detect this case and emit the standard no variation output. -- [delivers #54625060]
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@ -791,9 +791,13 @@ public class HaplotypeCaller extends ActiveRegionWalker<List<VariantContext>, In
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if( DEBUG ) { logger.info("----------------------------------------------------------------------------------"); }
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if ( emitReferenceConfidence() ) {
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return referenceConfidenceModel.calculateRefConfidence(assemblyResult.getRefHaplotype(),
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calledHaplotypes.getCalledHaplotypes(), assemblyResult.paddedReferenceLoc, assemblyResult.regionForGenotyping,
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stratifiedReadMap, calledHaplotypes.getCalls());
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if ( calledHaplotypes.getCalls().isEmpty() ) {
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// no called all of the potential haplotypes
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return referenceModelForNoVariation(originalActiveRegion, false);
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} else
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return referenceConfidenceModel.calculateRefConfidence(assemblyResult.getRefHaplotype(),
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calledHaplotypes.getCalledHaplotypes(), assemblyResult.paddedReferenceLoc, assemblyResult.regionForGenotyping,
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stratifiedReadMap, calledHaplotypes.getCalls());
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} else {
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return calledHaplotypes.getCalls();
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}
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@ -85,4 +85,13 @@ public class HaplotypeCallerGVCFIntegrationTest extends WalkerTest {
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final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList(md5));
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executeTest(name, spec);
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}
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@Test
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public void testERCRegionWithNoCalledHaplotypes() {
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final String commandLine = String.format("-T HaplotypeCaller -R %s -I %s -L %s -ERC GVCF",
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b37KGReference, privateTestDir + "noCallRefModel.bam", "20:17000001-18000001");
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final WalkerTestSpec spec = new WalkerTestSpec(commandLine + " -o %s", Arrays.asList(""));
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spec.disableShadowBCF();
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executeTest("testERCRegionWithNoCalledHaplotypes", spec);
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}
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}
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