- No longer prints out non confident calls (they were leading to tables that don't add up and confusing some Pacbio folk).
- Added sensitivity and Specificity to the report. - With the changes in genotype likelihoods, the indel analysis only happens if the BAM file also has an extended event. Not great, but at least it's not broken. git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5759 348d0f76-0448-11de-a6fe-93d51630548a
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@ -156,6 +156,7 @@ public class GenotypeAndValidateWalker extends RodWalker<GenotypeAndValidateWalk
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if (emitConf >= 0) uac.STANDARD_CONFIDENCE_FOR_EMITTING = emitConf;
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if (callConf >= 0) uac.STANDARD_CONFIDENCE_FOR_CALLING = callConf;
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uac.GLmodel = GenotypeLikelihoodsCalculationModel.Model.SNP;
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snpEngine = new UnifiedGenotyperEngine(getToolkit(), uac);
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// Adding the INDEL calling arguments for UG
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@ -205,6 +206,9 @@ public class GenotypeAndValidateWalker extends RodWalker<GenotypeAndValidateWalk
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return counter;
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}
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boolean writeVariant = true;
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if (bamIsTruth) {
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if (call.confidentlyCalled) {
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// If truth is a confident REF call
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@ -224,6 +228,7 @@ public class GenotypeAndValidateWalker extends RodWalker<GenotypeAndValidateWalk
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}
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else {
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counter.nNotConfidentCalls = 1L;
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writeVariant = false;
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}
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}
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else {
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@ -246,10 +251,11 @@ public class GenotypeAndValidateWalker extends RodWalker<GenotypeAndValidateWalk
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}
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else {
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counter.nNotConfidentCalls = 1L;
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writeVariant = false;
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}
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}
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if (vcfWriter != null) {
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if (vcfWriter != null && writeVariant) {
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if (!vcComp.hasAttribute("callStatus")) {
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MutableVariantContext mvc = new MutableVariantContext(vcComp);
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mvc.putAttribute("callStatus", call.isCalledAlt(callConf) ? "ALT" : "REF" );
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@ -284,6 +290,8 @@ public class GenotypeAndValidateWalker extends RodWalker<GenotypeAndValidateWalk
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public void onTraversalDone( CountedData reduceSum ) {
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double ppv = 100 * ((double) reduceSum.nAltCalledAlt /( reduceSum.nAltCalledAlt + reduceSum.nRefCalledAlt));
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double npv = 100 * ((double) reduceSum.nRefCalledRef /( reduceSum.nRefCalledRef + reduceSum.nAltCalledRef));
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double sensitivity = 100 * ((double) reduceSum.nAltCalledAlt /( reduceSum.nAltCalledAlt + reduceSum.nAltCalledRef));
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double specificity = (reduceSum.nRefCalledRef + reduceSum.nRefCalledAlt > 0) ? 100 * ((double) reduceSum.nRefCalledRef /( reduceSum.nRefCalledRef + reduceSum.nRefCalledAlt)) : 100;
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logger.info(String.format("Resulting Truth Table Output\n\n" +
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"---------------------------------------------------\n" +
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"\t\t|\tALT\t|\tREF\t\n" +
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@ -294,8 +302,11 @@ public class GenotypeAndValidateWalker extends RodWalker<GenotypeAndValidateWalk
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"positive predictive value: %f%%\n" +
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"negative predictive value: %f%%\n" +
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"---------------------------------------------------\n" +
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"sensitivity: %f%%\n" +
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"specificity: %f%%\n" +
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"---------------------------------------------------\n" +
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"not confident: %d\n" +
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"not covered: %d\n" +
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"---------------------------------------------------\n", reduceSum.nAltCalledAlt, reduceSum.nRefCalledAlt, reduceSum.nAltCalledRef, reduceSum.nRefCalledRef, ppv, npv, reduceSum.nNotConfidentCalls, reduceSum.nUncovered));
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"---------------------------------------------------\n", reduceSum.nAltCalledAlt, reduceSum.nRefCalledAlt, reduceSum.nAltCalledRef, reduceSum.nRefCalledRef, ppv, npv, sensitivity, specificity, reduceSum.nNotConfidentCalls, reduceSum.nUncovered));
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}
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}
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