Annotations used to build the 1000G consensus callsets are now standard annotations
git-svn-id: file:///humgen/gsa-scr1/gsa-engineering/svn_contents/trunk@5969 348d0f76-0448-11de-a6fe-93d51630548a
This commit is contained in:
rpoplin
parent
6c4f2f1b36
commit
895e86c544
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@ -105,7 +105,7 @@ public class AlleleBalance implements InfoFieldAnnotation {
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return null;
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Map<String, Object> map = new HashMap<String, Object>();
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map.put(getKeyNames().get(0), String.format("%.2f", (ratio / totalWeights)));
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map.put(getKeyNames().get(0), String.format("%.3f", (ratio / totalWeights)));
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return map;
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}
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@ -15,7 +15,7 @@ import java.util.List;
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import java.util.Arrays;
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public class DepthOfCoverage implements InfoFieldAnnotation {
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public class DepthOfCoverage implements InfoFieldAnnotation, StandardAnnotation {
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public Map<String, Object> annotate(RefMetaDataTracker tracker, ReferenceContext ref, Map<String, AlignmentContext> stratifiedContexts, VariantContext vc) {
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if ( stratifiedContexts.size() == 0 )
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@ -31,5 +31,5 @@ public class DepthOfCoverage implements InfoFieldAnnotation {
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public List<String> getKeyNames() { return Arrays.asList(VCFConstants.DEPTH_KEY); }
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public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Integer, "Total Depth")); }
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public List<VCFInfoHeaderLine> getDescriptions() { return Arrays.asList(new VCFInfoHeaderLine(getKeyNames().get(0), 1, VCFHeaderLineType.Integer, "Filtered Depth")); }
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}
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@ -27,7 +27,7 @@ package org.broadinstitute.sting.gatk.walkers.annotator;
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import org.broadinstitute.sting.gatk.contexts.AlignmentContext;
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import org.broadinstitute.sting.gatk.contexts.ReferenceContext;
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import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.InfoFieldAnnotation;
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import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.WorkInProgressAnnotation;
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import org.broadinstitute.sting.gatk.walkers.annotator.interfaces.StandardAnnotation;
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import org.broadinstitute.sting.gatk.refdata.RefMetaDataTracker;
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import org.broadinstitute.sting.gatk.walkers.genotyper.IndelGenotypeLikelihoodsCalculationModel;
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import org.broadinstitute.sting.utils.*;
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@ -38,16 +38,11 @@ import org.broad.tribble.vcf.VCFInfoHeaderLine;
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import org.broad.tribble.vcf.VCFHeaderLineType;
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import cern.jet.math.Arithmetic;
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import org.broadinstitute.sting.utils.pileup.ReadBackedPileup;
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import org.broadinstitute.sting.utils.sam.AlignmentUtils;
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import java.util.*;
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public class FisherStrand implements InfoFieldAnnotation, WorkInProgressAnnotation {
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private static final String REFFWD = "REFFWD";
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private static final String REFREV = "REFREV";
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private static final String ALTFWD = "ALTFWD";
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private static final String ALTREV = "ALTREV";
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public class FisherStrand implements InfoFieldAnnotation, StandardAnnotation {
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private static final String FS = "FS";
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private static final double MIN_PVALUE = 1E-320;
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@ -79,7 +74,7 @@ public class FisherStrand implements InfoFieldAnnotation, WorkInProgressAnnotati
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}
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public List<String> getKeyNames() {
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return Arrays.asList(REFFWD,REFREV,ALTFWD,ALTREV,FS);
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return Arrays.asList(FS);
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}
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public List<VCFInfoHeaderLine> getDescriptions() {
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@ -22,7 +22,7 @@ import java.util.Arrays;
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*/
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// A set of annotations calculated directly from the GLs
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public class GLstats implements InfoFieldAnnotation {
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public class GLstats implements InfoFieldAnnotation, StandardAnnotation {
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private static final int MIN_SAMPLES = 10;
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@ -42,13 +42,14 @@ public class GLstats implements InfoFieldAnnotation {
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idxAB = idxVector[1];
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idxBB = idxVector[2];
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}
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double refCount = 0.0;
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double hetCount = 0.0;
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double homCount = 0.0;
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int N = 0; // number of samples that have likelihoods
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for ( final Map.Entry<String, Genotype> genotypeMap : genotypes.entrySet() ) {
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Genotype g = genotypeMap.getValue();
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if ( g.isNoCall() )
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if ( g.isNoCall() || !g.hasLikelihoods() )
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continue;
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N++;
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@ -58,6 +59,10 @@ public class GLstats implements InfoFieldAnnotation {
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homCount += normalizedLikelihoods[idxBB];
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}
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if( N < MIN_SAMPLES ) {
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return null;
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}
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final double p = ( 2.0 * refCount + hetCount ) / ( 2.0 * (refCount + hetCount + homCount) ); // expected reference allele frequency
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final double q = 1.0 - p; // expected alternative allele frequency
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final double F = 1.0 - ( hetCount / ( 2.0 * p * q * (double)N ) ); // inbreeding coefficient
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@ -31,7 +31,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testHasAnnotsAsking1() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample2.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1,
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Arrays.asList("11fab4bbd26e0428e6d7b53284a34388"));
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Arrays.asList("93c110e45fd4aedb044a8a5501e23336"));
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executeTest("test file has annotations, asking for annotations, #1", spec);
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}
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@ -39,7 +39,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testHasAnnotsAsking2() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample3.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1,
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Arrays.asList("248233148af03e39f104bfb161899136"));
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Arrays.asList("f5cb45910ed719f46159f9f71acaecf4"));
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executeTest("test file has annotations, asking for annotations, #2", spec);
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}
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@ -63,7 +63,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testNoAnnotsAsking1() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample2empty.vcf -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -L 1:10,020,000-10,021,000", 1,
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Arrays.asList("4bcc71f014def02d0fe9237176cc99af"));
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Arrays.asList("a330a5bc3ee72a51dbeb7e6c97a0db99"));
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executeTest("test file doesn't have annotations, asking for annotations, #1", spec);
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}
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@ -71,7 +71,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testNoAnnotsAsking2() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample3empty.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,000,000-10,050,000", 1,
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Arrays.asList("25068fff13c928ca1b70e5d67af32775"));
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Arrays.asList("3a31d1ef471acfb881a2dec7963fe3f4"));
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executeTest("test file doesn't have annotations, asking for annotations, #2", spec);
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}
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@ -79,7 +79,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testOverwritingHeader() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -G \"Standard\" -B:variant,VCF " + validationDataLocation + "vcfexample4.vcf -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -L 1:10,001,292", 1,
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Arrays.asList("6c0d9d61f09d6b9036cdadf3f86f5e66"));
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Arrays.asList("a63fd8ff7bafbd46b7f009144a7c2ad1"));
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executeTest("test overwriting header", spec);
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}
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@ -87,7 +87,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testNoReads() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample3empty.vcf -BTI variant", 1,
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Arrays.asList("019d6b1bb7b367759fc42fbdb14b8bf7"));
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Arrays.asList("36378f1245bb99d902fbfe147605bc42"));
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executeTest("not passing it any reads", spec);
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}
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@ -95,7 +95,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testDBTagWithDbsnp() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -D " + GATKDataLocation + "dbsnp_129_b36.rod -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample3empty.vcf -BTI variant", 1,
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Arrays.asList("92a29447f222eadb549dc05ddd11b45e"));
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Arrays.asList("0257a1cc3c703535b2d3c5046bf88ab7"));
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executeTest("getting DB tag with dbSNP", spec);
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}
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@ -103,7 +103,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testDBTagWithHapMap() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -B:compH3,VCF " + validationDataLocation + "fakeHM3.vcf -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample3empty.vcf -BTI variant", 1,
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Arrays.asList("067dde55de98a631225e0e084f0fcc1a"));
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Arrays.asList("2d7c73489dcf0db433bebdf79a068764"));
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executeTest("getting DB tag with HM3", spec);
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}
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@ -111,7 +111,7 @@ public class VariantAnnotatorIntegrationTest extends WalkerTest {
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public void testUsingExpression() {
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WalkerTestSpec spec = new WalkerTestSpec(
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baseTestString() + " -B:foo,VCF " + validationDataLocation + "targetAnnotations.vcf -G \"Standard\" -B:variant,VCF3 " + validationDataLocation + "vcfexample3empty.vcf -E foo.AF -BTI variant", 1,
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Arrays.asList("e55b457426d6ba7f8ccea085c23c1350"));
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Arrays.asList("2f6efd08d818faa1eb0631844437c64a"));
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executeTest("using expression", spec);
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}
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@ -28,7 +28,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testMultiSamplePilot1() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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baseCommand + " -I " + validationDataLocation + "low_coverage_CEU.chr1.10k-11k.bam -o %s -L 1:10,022,000-10,025,000", 1,
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Arrays.asList("82d77402919f5d5b627a789f0bfffbb9"));
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Arrays.asList("a604a64252a8538b7d13f52bd068f797"));
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executeTest("test MultiSample Pilot1", spec);
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}
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@ -54,12 +54,12 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testWithAllelesPassedIn() {
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WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec(
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baseCommand + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -B:alleles,vcf " + validationDataLocation + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1,
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Arrays.asList("a2584e8f92efa056cd8a09814476f883"));
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Arrays.asList("5844eda3596732a16c8559f5bfbe1723"));
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executeTest("test MultiSample Pilot2 with alleles passed in", spec1);
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WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec(
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baseCommand + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -B:alleles,vcf " + validationDataLocation + "allelesForUG.vcf -I " + validationDataLocation + "pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,025,000", 1,
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Arrays.asList("8af463870c0f66cd3fccc5734ef86cb0"));
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Arrays.asList("db4664a1785c4efb4cd9057478aa846f"));
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executeTest("test MultiSample Pilot2 with alleles passed in and emitting all sites", spec2);
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}
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@ -67,7 +67,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testSingleSamplePilot2() {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,100,000", 1,
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Arrays.asList("274a4eae68b0083191d59b95db95cbfc"));
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Arrays.asList("36c70ec27a25f88fe2364bba2f961843"));
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executeTest("test SingleSample Pilot2", spec);
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}
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@ -77,7 +77,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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//
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// --------------------------------------------------------------------------------------------------------------
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private final static String COMPRESSED_OUTPUT_MD5 = "e01fd00964e4340889a59edddd93bc48";
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private final static String COMPRESSED_OUTPUT_MD5 = "212eab2024903997625ba98009063226";
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@Test
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public void testCompressedOutput() {
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@ -138,9 +138,9 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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@Test
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public void testCallingParameters() {
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HashMap<String, String> e = new HashMap<String, String>();
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e.put( "--min_base_quality_score 26", "93ad1ed265be26e0c1fe05975d01edd1" );
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e.put( "--min_mapping_quality_score 26", "8f470d3622c0eb9fcc78b9ef3c9b0a0d" );
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e.put( "--p_nonref_model GRID_SEARCH", "cb8f353e0b1c252ef09dcbebe50d95af" );
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e.put( "--min_base_quality_score 26", "d10d0be159d80e22b9c81970ee098daf" );
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e.put( "--min_mapping_quality_score 26", "f76099c403b60b6045a0ae7d9f589dc4" );
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e.put( "--p_nonref_model GRID_SEARCH", "cda395fdf7352e07537610f52a6d0cdc" );
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for ( Map.Entry<String, String> entry : e.entrySet() ) {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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@ -153,9 +153,9 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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@Test
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public void testOutputParameter() {
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HashMap<String, String> e = new HashMap<String, String>();
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e.put( "-sites_only", "71f61655f725cda56bc46d99d1cc24eb" );
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e.put( "--output_mode EMIT_ALL_CONFIDENT_SITES", "8193a4c06ddbd82d0a328491118b16a8" );
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e.put( "--output_mode EMIT_ALL_SITES", "74c25dedf25652e35707fb617d7637b6" );
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e.put( "-sites_only", "9b85d9c10d634315d20aefa565dbab60" );
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e.put( "--output_mode EMIT_ALL_CONFIDENT_SITES", "245abbb39de43e89f63918a6771c0c14" );
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e.put( "--output_mode EMIT_ALL_SITES", "fb7a59b318ecdb46fd96024be7e41e0e" );
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for ( Map.Entry<String, String> entry : e.entrySet() ) {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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@ -169,12 +169,12 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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public void testConfidence() {
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WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec(
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baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_call_conf 10 ", 1,
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Arrays.asList("8f470d3622c0eb9fcc78b9ef3c9b0a0d"));
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Arrays.asList("f76099c403b60b6045a0ae7d9f589dc4"));
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executeTest("test confidence 1", spec1);
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WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec(
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baseCommand + " -I " + validationDataLocation + "NA12878.1kg.p2.chr1_10mb_11_mb.SLX.bam -o %s -L 1:10,000,000-10,010,000 -stand_emit_conf 10 ", 1,
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Arrays.asList("50d03e71ed2b4eb20db82e22541ac2f2"));
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Arrays.asList("879e5ab09bd0d37e0300dd34ec09db81"));
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executeTest("test confidence 2", spec2);
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}
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@ -186,8 +186,8 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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@Test
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public void testHeterozyosity() {
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HashMap<Double, String> e = new HashMap<Double, String>();
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e.put( 0.01, "cb8da711af63409f75c49cff3680b7e1" );
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e.put( 1.0 / 1850, "4249a2ab3ff7516d3a77521d9516eb23" );
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e.put( 0.01, "c7123f7b84b402f4959db950326afc13" );
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e.put( 1.0 / 1850, "75e6043a68265ab6deb284bb753801f9" );
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for ( Map.Entry<Double, String> entry : e.entrySet() ) {
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WalkerTest.WalkerTestSpec spec = new WalkerTest.WalkerTestSpec(
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@ -211,7 +211,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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" -o %s" +
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" -L 1:10,000,000-10,100,000",
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1,
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Arrays.asList("4de696898979e57644e5c983e40b882a"));
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Arrays.asList("3f45b2af75123e48b89fa1759c444ec0"));
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executeTest(String.format("test multiple technologies"), spec);
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}
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@ -230,7 +230,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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" -L 1:10,000,000-10,100,000" +
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" -baq CALCULATE_AS_NECESSARY",
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1,
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Arrays.asList("e31fb159a93011edd66c02b365c6c76e"));
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Arrays.asList("cede928592575e617f1323866348c256"));
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executeTest(String.format("test calling with BAQ"), spec);
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}
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@ -244,7 +244,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
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" -L 1:10,000,000-10,100,000" +
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" -baq OFF",
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1,
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Arrays.asList("4de696898979e57644e5c983e40b882a"));
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Arrays.asList("3f45b2af75123e48b89fa1759c444ec0"));
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executeTest(String.format("test calling with BAQ OFF"), spec);
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}
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@ -263,7 +263,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
|||
" -o %s" +
|
||||
" -L 1:10,000,000-10,500,000",
|
||||
1,
|
||||
Arrays.asList("ca800d36708a337c3e29216c1b73bb6d"));
|
||||
Arrays.asList("7fe14d81f12d5d57e3a522b2a4f07fc6"));
|
||||
|
||||
executeTest(String.format("test indel caller in SLX"), spec);
|
||||
}
|
||||
|
|
@ -278,7 +278,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
|||
" -minIndelCnt 1" +
|
||||
" -L 1:10,000,000-10,100,000",
|
||||
1,
|
||||
Arrays.asList("cb1e3d077b7fb17eb4f1be758ed4e4d6"));
|
||||
Arrays.asList("a7da8acce1957334619f3dfeac3d1379"));
|
||||
|
||||
executeTest(String.format("test indel caller in SLX witn low min allele count"), spec);
|
||||
}
|
||||
|
|
@ -291,7 +291,7 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
|||
" -o %s" +
|
||||
" -L 1:10,000,000-10,500,000",
|
||||
1,
|
||||
Arrays.asList("8d4b2d5a093cbd6f421e85390d346f83"));
|
||||
Arrays.asList("234b6c336890cc6d9a495bc40f09d126"));
|
||||
|
||||
executeTest(String.format("test indel calling, multiple technologies"), spec);
|
||||
}
|
||||
|
|
@ -301,14 +301,14 @@ public class UnifiedGenotyperIntegrationTest extends WalkerTest {
|
|||
WalkerTest.WalkerTestSpec spec1 = new WalkerTest.WalkerTestSpec(
|
||||
baseCommandIndels + " --genotyping_mode GENOTYPE_GIVEN_ALLELES -B:alleles,vcf " + validationDataLocation + "indelAllelesForUG.vcf -I " + validationDataLocation +
|
||||
"pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1,
|
||||
Arrays.asList("a3351235c893d38ed4b1d23ab3cda744"));
|
||||
Arrays.asList("9e342e3b73ae4887620195417e1af44a"));
|
||||
executeTest("test MultiSample Pilot2 indels with alleles passed in", spec1);
|
||||
|
||||
WalkerTest.WalkerTestSpec spec2 = new WalkerTest.WalkerTestSpec(
|
||||
baseCommandIndels + " --output_mode EMIT_ALL_SITES --genotyping_mode GENOTYPE_GIVEN_ALLELES -B:alleles,vcf "
|
||||
+ validationDataLocation + "indelAllelesForUG.vcf -I " + validationDataLocation +
|
||||
"pilot2_daughters.chr20.10k-11k.bam -o %s -L 20:10,000,000-10,100,000", 1,
|
||||
Arrays.asList("31afc73ecba6b466bcb17ef3ebdd7a99"));
|
||||
Arrays.asList("f265726403ca3f28518cb4290b7bee84"));
|
||||
executeTest("test MultiSample Pilot2 indels with alleles passed in and emitting all sites", spec2);
|
||||
}
|
||||
|
||||
|
|
|
|||
Loading…
Reference in New Issue