VariantEval now includes -keepAC0 argument to include sites with alt alleles but AC 0 in analyses
-- Updated EvalModules to work with new paramter -- adding test file for keepAC0 to public/testdata and integration tests
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@ -165,6 +165,9 @@ public class VariantEvalWalker extends RodWalker<Integer, Integer> implements Tr
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@Argument(fullName="requireStrictAlleleMatch", shortName="strict", doc="If provided only comp and eval tracks with exactly matching reference and alternate alleles will be counted as overlapping", required=false)
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@Argument(fullName="requireStrictAlleleMatch", shortName="strict", doc="If provided only comp and eval tracks with exactly matching reference and alternate alleles will be counted as overlapping", required=false)
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private boolean requireStrictAlleleMatch = false;
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private boolean requireStrictAlleleMatch = false;
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@Argument(fullName="keepAC0", shortName="keepAC0", doc="If provided, modules that track polymorphic sites will not require that a site have AC > 0 when the input eval has genotypes", required=false)
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private boolean keepSitesWithAC0 = false;
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/**
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/**
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* If true, VariantEval will treat -eval 1 -eval 2 as separate tracks from the same underlying
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* If true, VariantEval will treat -eval 1 -eval 2 as separate tracks from the same underlying
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* variant set, and evaluate the union of the results. Useful when you want to do -eval chr1.vcf -eval chr2.vcf etc.
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* variant set, and evaluate the union of the results. Useful when you want to do -eval chr1.vcf -eval chr2.vcf etc.
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@ -580,4 +583,8 @@ public class VariantEvalWalker extends RodWalker<Integer, Integer> implements Tr
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public GenomeAnalysisEngine getToolkit() {
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public GenomeAnalysisEngine getToolkit() {
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return super.getToolkit();
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return super.getToolkit();
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}
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}
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public boolean ignoreAC0Sites() {
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return ! keepSitesWithAC0;
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}
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}
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}
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@ -93,7 +93,7 @@ public class CountVariants extends VariantEvaluator implements StandardEval {
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// So in order to maintain consistency with the previous implementation (and the intention of the original author), I've
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// So in order to maintain consistency with the previous implementation (and the intention of the original author), I've
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// added in a proxy check for monomorphic status here.
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// added in a proxy check for monomorphic status here.
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// Protect against case when vc only as no-calls too - can happen if we strafity by sample and sample as a single no-call.
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// Protect against case when vc only as no-calls too - can happen if we strafity by sample and sample as a single no-call.
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if ( vc1.isMonomorphicInSamples() ) {
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if ( getWalker().ignoreAC0Sites() && vc1.isMonomorphicInSamples() ) {
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nRefLoci++;
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nRefLoci++;
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} else {
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} else {
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switch (vc1.getType()) {
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switch (vc1.getType()) {
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@ -134,7 +134,7 @@ public class IndelSummary extends VariantEvaluator implements StandardEval {
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@Override public int getComparisonOrder() { return 2; }
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@Override public int getComparisonOrder() { return 2; }
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public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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if ( eval == null || eval.isMonomorphicInSamples() )
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if ( eval == null || (getWalker().ignoreAC0Sites() && eval.isMonomorphicInSamples()) )
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return;
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return;
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// update counts
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// update counts
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@ -92,7 +92,7 @@ public class MultiallelicSummary extends VariantEvaluator implements StandardEva
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@Override public int getComparisonOrder() { return 2; }
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@Override public int getComparisonOrder() { return 2; }
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public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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if ( eval == null || eval.isMonomorphicInSamples() )
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if ( eval == null || (getWalker().ignoreAC0Sites() && eval.isMonomorphicInSamples()) )
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return;
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return;
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// update counts
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// update counts
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@ -33,7 +33,7 @@ public class ThetaVariantEvaluator extends VariantEvaluator {
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}
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}
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public void update1(VariantContext vc, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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public void update1(VariantContext vc, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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if (vc == null || !vc.isSNP() || !vc.hasGenotypes() || vc.isMonomorphicInSamples()) {
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if (vc == null || !vc.isSNP() || (getWalker().ignoreAC0Sites() && vc.isMonomorphicInSamples())) {
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return;
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return;
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}
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}
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@ -207,7 +207,8 @@ public class VariantSummary extends VariantEvaluator implements StandardEval {
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}
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}
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public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
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if ( eval == null || eval.isMonomorphicInSamples() ) return;
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if ( eval == null || (getWalker().ignoreAC0Sites() && eval.isMonomorphicInSamples()) )
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return;
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final Type type = getType(eval);
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final Type type = getType(eval);
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@ -506,4 +506,21 @@ public class VariantEvalIntegrationTest extends WalkerTest {
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UserException.class);
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UserException.class);
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executeTest("testIncompatibleEvalAndStrat", spec);
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executeTest("testIncompatibleEvalAndStrat", spec);
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}
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}
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public void testIncludingAC0(boolean includeAC0, final String md5) {
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WalkerTestSpec spec = new WalkerTestSpec(
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buildCommandLine(
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"-T VariantEval",
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"-R " + b37KGReference,
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"-eval " + testDir + "/ac0.vcf",
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"-L 20:81006 -noST -noEV -EV VariantSummary -o %s" + (includeAC0 ? " -keepAC0" : "")
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),
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1,
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Arrays.asList(md5));
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executeTest("testIncludingAC0 keep ac 0 = " + includeAC0, spec);
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}
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@Test public void testWithAC0() { testIncludingAC0(true, "0ed2c8e4b4e06973a06838bc930a132d"); }
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@Test public void testWithoutAC0() { testIncludingAC0(false, "79d28ddd0ab9584776b6cbefe48331df"); }
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}
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}
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