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
This commit is contained in:
Mark DePristo 2012-04-04 13:17:19 -04:00
parent 15e26fec04
commit 1ccea866d8
8 changed files with 146 additions and 5 deletions

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@ -165,6 +165,9 @@ public class VariantEvalWalker extends RodWalker<Integer, Integer> implements Tr
@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)
private boolean requireStrictAlleleMatch = false;
@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)
private boolean keepSitesWithAC0 = false;
/**
* If true, VariantEval will treat -eval 1 -eval 2 as separate tracks from the same underlying
* variant set, and evaluate the union of the results. Useful when you want to do -eval chr1.vcf -eval chr2.vcf etc.
@ -580,4 +583,8 @@ public class VariantEvalWalker extends RodWalker<Integer, Integer> implements Tr
public GenomeAnalysisEngine getToolkit() {
return super.getToolkit();
}
public boolean ignoreAC0Sites() {
return ! keepSitesWithAC0;
}
}

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@ -93,7 +93,7 @@ public class CountVariants extends VariantEvaluator implements StandardEval {
// So in order to maintain consistency with the previous implementation (and the intention of the original author), I've
// added in a proxy check for monomorphic status here.
// Protect against case when vc only as no-calls too - can happen if we strafity by sample and sample as a single no-call.
if ( vc1.isMonomorphicInSamples() ) {
if ( getWalker().ignoreAC0Sites() && vc1.isMonomorphicInSamples() ) {
nRefLoci++;
} else {
switch (vc1.getType()) {

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@ -134,7 +134,7 @@ public class IndelSummary extends VariantEvaluator implements StandardEval {
@Override public int getComparisonOrder() { return 2; }
public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
if ( eval == null || eval.isMonomorphicInSamples() )
if ( eval == null || (getWalker().ignoreAC0Sites() && eval.isMonomorphicInSamples()) )
return;
// update counts

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@ -92,7 +92,7 @@ public class MultiallelicSummary extends VariantEvaluator implements StandardEva
@Override public int getComparisonOrder() { return 2; }
public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
if ( eval == null || eval.isMonomorphicInSamples() )
if ( eval == null || (getWalker().ignoreAC0Sites() && eval.isMonomorphicInSamples()) )
return;
// update counts

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@ -33,7 +33,7 @@ public class ThetaVariantEvaluator extends VariantEvaluator {
}
public void update1(VariantContext vc, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
if (vc == null || !vc.isSNP() || !vc.hasGenotypes() || vc.isMonomorphicInSamples()) {
if (vc == null || !vc.isSNP() || (getWalker().ignoreAC0Sites() && vc.isMonomorphicInSamples())) {
return;
}

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@ -207,7 +207,8 @@ public class VariantSummary extends VariantEvaluator implements StandardEval {
}
public void update2(VariantContext eval, VariantContext comp, RefMetaDataTracker tracker, ReferenceContext ref, AlignmentContext context) {
if ( eval == null || eval.isMonomorphicInSamples() ) return;
if ( eval == null || (getWalker().ignoreAC0Sites() && eval.isMonomorphicInSamples()) )
return;
final Type type = getType(eval);

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@ -506,4 +506,21 @@ public class VariantEvalIntegrationTest extends WalkerTest {
UserException.class);
executeTest("testIncompatibleEvalAndStrat", spec);
}
public void testIncludingAC0(boolean includeAC0, final String md5) {
WalkerTestSpec spec = new WalkerTestSpec(
buildCommandLine(
"-T VariantEval",
"-R " + b37KGReference,
"-eval " + testDir + "/ac0.vcf",
"-L 20:81006 -noST -noEV -EV VariantSummary -o %s" + (includeAC0 ? " -keepAC0" : "")
),
1,
Arrays.asList(md5));
executeTest("testIncludingAC0 keep ac 0 = " + includeAC0, spec);
}
@Test public void testWithAC0() { testIncludingAC0(true, "0ed2c8e4b4e06973a06838bc930a132d"); }
@Test public void testWithoutAC0() { testIncludingAC0(false, "79d28ddd0ab9584776b6cbefe48331df"); }
}

116
public/testdata/ac0.vcf vendored 100644

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