Ensure output table formatting does not contain NaNs. For (0 eval ref calls)/(0 comp ref calls), set the proportion to 0.00.
Added integration tests (checked against manual tabulation)
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@ -85,6 +85,13 @@ public class GenotypeConcordance extends RodWalker<Pair<VariantContext,VariantCo
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return metrics;
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}
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private static double repairNaN(double d) {
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if ( Double.isNaN(d) ) {
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return 0.0;
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}
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return d;
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}
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public void onTraversalDone(ConcordanceMetrics metrics) {
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GATKReport report = new GATKReport();
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GATKReportTable concordanceCounts = new GATKReportTable("GenotypeConcordance_Counts","Per-sample concordance tables: comparison counts",2+GenotypeType.values().length*GenotypeType.values().length);
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@ -126,13 +133,13 @@ public class GenotypeConcordance extends RodWalker<Pair<VariantContext,VariantCo
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int count = table.get(evalType, compType);
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concordanceCounts.set(entry.getKey(),colKey,count);
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if ( evalType == GenotypeType.HET || evalType == GenotypeType.HOM_REF || evalType == GenotypeType.HOM_VAR)
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concordanceEvalProportions.set(entry.getKey(),colKey,( (double) count)/table.getnEvalGenotypes(evalType));
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concordanceEvalProportions.set(entry.getKey(),colKey,repairNaN(( (double) count)/table.getnEvalGenotypes(evalType)));
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if ( compType == GenotypeType.HET || compType == GenotypeType.HOM_VAR || compType == GenotypeType.HOM_REF )
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concordanceCompProportions.set(entry.getKey(),colKey,( (double) count)/table.getnCompGenotypes(compType));
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concordanceCompProportions.set(entry.getKey(),colKey,repairNaN(( (double) count)/table.getnCompGenotypes(compType)));
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}
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}
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concordanceEvalProportions.set(entry.getKey(),"Mismatching_Alleles", ( (double) table.getnMismatchingAlt() )/table.getnCalledEvalGenotypes());
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concordanceCompProportions.set(entry.getKey(),"Mismatching_Alleles", ( (double) table.getnMismatchingAlt() )/table.getnCalledCompGenotypes());
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concordanceEvalProportions.set(entry.getKey(),"Mismatching_Alleles", repairNaN(( (double) table.getnMismatchingAlt() )/table.getnCalledEvalGenotypes()));
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concordanceCompProportions.set(entry.getKey(),"Mismatching_Alleles", repairNaN(( (double) table.getnMismatchingAlt() )/table.getnCalledCompGenotypes()));
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concordanceCounts.set(entry.getKey(),"Mismatching_Alleles",table.getnMismatchingAlt());
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}
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@ -147,13 +154,13 @@ public class GenotypeConcordance extends RodWalker<Pair<VariantContext,VariantCo
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int count = table.get(evalType,compType);
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concordanceCounts.set(rowKey,colKey,count);
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if ( evalType == GenotypeType.HET || evalType == GenotypeType.HOM_REF || evalType == GenotypeType.HOM_VAR)
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concordanceEvalProportions.set(rowKey,colKey,( (double) count)/table.getnEvalGenotypes(evalType));
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concordanceEvalProportions.set(rowKey,colKey,repairNaN(( (double) count)/table.getnEvalGenotypes(evalType)));
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if ( compType == GenotypeType.HET || compType == GenotypeType.HOM_VAR || compType == GenotypeType.HOM_REF )
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concordanceCompProportions.set(rowKey,colKey,( (double) count)/table.getnCompGenotypes(compType));
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concordanceCompProportions.set(rowKey,colKey,repairNaN(( (double) count)/table.getnCompGenotypes(compType)));
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}
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}
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concordanceEvalProportions.set(rowKey,"Mismatching_Alleles", ( (double) table.getnMismatchingAlt() )/table.getnCalledEvalGenotypes());
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concordanceCompProportions.set(rowKey,"Mismatching_Alleles", ( (double) table.getnMismatchingAlt() )/table.getnCalledCompGenotypes());
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concordanceEvalProportions.set(rowKey,"Mismatching_Alleles", repairNaN(( (double) table.getnMismatchingAlt() )/table.getnCalledEvalGenotypes()));
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concordanceCompProportions.set(rowKey,"Mismatching_Alleles", repairNaN(( (double) table.getnMismatchingAlt() )/table.getnCalledCompGenotypes()));
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concordanceCounts.set(rowKey,"Mismatching_Alleles",table.getnMismatchingAlt());
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for ( Map.Entry<String,Double> nrsEntry : metrics.getPerSampleNRS().entrySet() ) {
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@ -210,4 +217,4 @@ public class GenotypeConcordance extends RodWalker<Pair<VariantContext,VariantCo
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builder.genotypes(newGeno);
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return builder.make();
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}
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}
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}
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@ -0,0 +1,63 @@
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/*
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* Copyright (c) 2010.
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*
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* Permission is hereby granted, free of charge, to any person
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* obtaining a copy of this software and associated documentation
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* files (the "Software"), to deal in the Software without
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* restriction, including without limitation the rights to use,
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* copy, modify, merge, publish, distribute, sublicense, and/or sell
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* copies of the Software, and to permit persons to whom the
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* Software is furnished to do so, subject to the following
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* conditions:
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*
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* The above copyright notice and this permission notice shall be
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* included in all copies or substantial portions of the Software.
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*
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* THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND,
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* EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES
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* OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND
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* NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT
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* HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY,
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* WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING
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* FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR
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* THE USE OR OTHER DEALINGS IN THE SOFTWARE.
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*/
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package org.broadinstitute.sting.gatk.walkers.variantutils;
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import org.broadinstitute.sting.WalkerTest;
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import org.broadinstitute.sting.utils.exceptions.UserException;
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import org.testng.annotations.Test;
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import java.util.Arrays;
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public class GenotypeConcordanceIntegrationTest extends WalkerTest {
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protected static final String emptyMd5 = "d41d8cd98f00b204e9800998ecf8427e";
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public static String baseTestString(String eval, String comp) {
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return "-T GenotypeConcordance -R " + b37KGReference + " --eval " + validationDataLocation + eval + " --comp " + validationDataLocation + comp + " -o %s";
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}
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@Test
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public void testIndelConcordance() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString("NA12878.Jan2013.haplotypeCaller.subset.indels.vcf", "NA12878.Jan2013.bestPractices.subset.indels.vcf"),
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0,
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Arrays.asList("0f29a0c6dc44066228c8cb204fd53ec0")
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);
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executeTest("test indel concordance", spec);
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}
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@Test
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public void testNonoverlapingSamples() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString("GenotypeConcordanceNonOverlapTest_Eval.vcf", "GenotypeConcordanceNonOverlapTest_Comp.vcf"),
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0,
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Arrays.asList("fc725022d47b4b5f8a6ef87f0f1ffe89")
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);
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executeTest("test non-overlapping samples", spec);
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}
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}
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