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package org.broadinstitute.gatk.tools.walkers.variantutils;
import htsjdk.samtools.reference.ReferenceSequenceFile;
import htsjdk.tribble.readers.PositionalBufferedStream;
import org.broadinstitute.gatk.utils.BaseTest;
import org.broadinstitute.gatk.utils.BaseUtils;
import org.broadinstitute.gatk.utils.GenomeLoc;
import org.broadinstitute.gatk.utils.GenomeLocParser;
import org.broadinstitute.gatk.utils.collections.Pair;
import org.broadinstitute.gatk.utils.fasta.CachingIndexedFastaSequenceFile;
import htsjdk.variant.variantcontext.*;
import htsjdk.variant.vcf.VCFCodec;
import htsjdk.variant.vcf.VCFHeader;
import org.testng.Assert;
import org.testng.annotations.BeforeClass;
import org.testng.annotations.Test;
import java.io.File;
import java.io.FileNotFoundException;
import java.io.StringBufferInputStream;
import java.util.ArrayList;
import java.util.Arrays;
import java.util.List;
public class ConcordanceMetricsUnitTest extends BaseTest {
private static ReferenceSequenceFile seq;
private GenomeLocParser genomeLocParser;
@BeforeClass
public void init() throws FileNotFoundException {
// sequence
seq = new CachingIndexedFastaSequenceFile(new File(hg18Reference));
genomeLocParser = new GenomeLocParser(seq);
}
public static String HEADER_BASE = "##fileformat=VCFv4.0\n" +
"##filedate=2010-06-21\n"+
"##reference=NCBI36\n"+
"##INFO=<ID=GC, Number=0, Type=Flag, Description=\"Overlap with Gencode CCDS coding sequence\">\n"+
"##INFO=<ID=DP, Number=1, Type=Integer, Description=\"Total number of reads in haplotype window\">\n"+
"##INFO=<ID=AF, Number=1, Type=Float, Description=\"Dindel estimated population allele frequency\">\n"+
"##FILTER=<ID=NoQCALL, Description=\"Variant called by Dindel but not confirmed by QCALL\">\n"+
"##FORMAT=<ID=GT, Number=1, Type=String, Description=\"Genotype\">\n"+
"##FORMAT=<ID=HQ, Number=2, Type=Integer, Description=\"Haplotype quality\">\n"+
"##FORMAT=<ID=GQ, Number=1, Type=Integer, Description=\"Genotype quality\">\n" +
"#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t";
public static String TEST_1_HEADER = HEADER_BASE + "test1_sample1\ttest1_sample2\ttest1_sample3\n";
public static String TEST_2_HEADER = HEADER_BASE + "test2_sample1\ttest2_sample2\n";
public static String TEST_3_HEADER_1 = HEADER_BASE + "test3_sample1\ttest3_sample2\ttest3_sample3\ttest3_sample4\ttest3_sample5\n";
public static String TEST_3_HEADER_2 = HEADER_BASE + "test3_sample6\ttest3_sample7\ttest3_sample8\ttest3_sample9\ttest3_sample10\n";
public static String TEST_3_HEADER_3 = HEADER_BASE + "test3_sample3\ttest3_sample6\ttest3_sample7\ttest3_sample8\ttest3_sample9\ttest3_sample10\n";
private Pair<VariantContext,VariantContext> getData1() {
Allele reference_A = Allele.create(BaseUtils.Base.A.base,true);
Allele alt_C = Allele.create(BaseUtils.Base.C.base);
Genotype sam_1_1_eval = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_eval = GenotypeBuilder.create("test1_sample2", Arrays.asList(reference_A,alt_C));
Genotype sam_1_3_eval = GenotypeBuilder.create("test1_sample3", Arrays.asList(reference_A,alt_C));
Genotype sam_1_1_truth = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_truth = GenotypeBuilder.create("test1_sample2", Arrays.asList(reference_A,reference_A));
Genotype sam_1_3_truth = GenotypeBuilder.create("test1_sample3", Arrays.asList(alt_C,alt_C));
GenomeLoc loc = genomeLocParser.createGenomeLoc("chr1", 3, 3);
VariantContextBuilder eval_1_builder = new VariantContextBuilder();
VariantContextBuilder truth_1_builder = new VariantContextBuilder();
eval_1_builder.alleles(Arrays.asList(reference_A,alt_C));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_C));
eval_1_builder.genotypes(Arrays.asList(sam_1_1_eval,sam_1_2_eval,sam_1_3_eval));
truth_1_builder.genotypes(Arrays.asList(sam_1_1_truth,sam_1_2_truth,sam_1_3_truth));
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
Pair<VariantContext,VariantContext> testData = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
return testData;
}
@Test(enabled=true)
public void testSimpleComparison() {
Pair<VariantContext,VariantContext> data = getData1();
VariantContext eval = data.getFirst();
VariantContext truth = data.getSecond();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
metrics.update(eval,truth);
Assert.assertEquals(eval.getGenotype("test1_sample2").getType().ordinal(), 2);
Assert.assertEquals(truth.getGenotype("test1_sample2").getType().ordinal(),1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getnMismatchingAlt(),0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[2][1],1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][3],1);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getTable()[1][1],1);
}
private Pair<VariantContext,VariantContext> getData2() {
Allele reference_A = Allele.create(BaseUtils.Base.A.base,true);
Allele alt_C = Allele.create(BaseUtils.Base.C.base);
Allele alt_T = Allele.create(BaseUtils.Base.T.base);
Genotype sam_1_1_eval = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_eval = GenotypeBuilder.create("test1_sample2", Arrays.asList(reference_A,alt_T));
Genotype sam_1_3_eval = GenotypeBuilder.create("test1_sample3", Arrays.asList(reference_A,alt_C));
Genotype sam_1_1_truth = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_truth = GenotypeBuilder.create("test1_sample2", Arrays.asList(reference_A,alt_C));
Genotype sam_1_3_truth = GenotypeBuilder.create("test1_sample3", Arrays.asList(alt_C,alt_C));
GenomeLoc loc = genomeLocParser.createGenomeLoc("chr1", 3, 3);
VariantContextBuilder eval_1_builder = new VariantContextBuilder();
VariantContextBuilder truth_1_builder = new VariantContextBuilder();
eval_1_builder.alleles(Arrays.asList(reference_A,alt_C,alt_T));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_C));
eval_1_builder.genotypes(Arrays.asList(sam_1_1_eval,sam_1_2_eval,sam_1_3_eval));
truth_1_builder.genotypes(Arrays.asList(sam_1_1_truth,sam_1_2_truth,sam_1_3_truth));
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
Pair<VariantContext,VariantContext> testData = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
return testData;
}
@Test(enabled=true)
public void testMismatchingAlleleInAlleleSubset() {
Pair<VariantContext,VariantContext> data = getData2();
VariantContext eval = data.getFirst();
VariantContext truth = data.getSecond();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
metrics.update(eval,truth);
Assert.assertEquals(eval.getGenotype("test1_sample2").getType().ordinal(), 2);
Assert.assertEquals(truth.getGenotype("test1_sample2").getType().ordinal(),2);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getnMismatchingAlt(),1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][3],1);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getTable()[1][1],1);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.EVAL_SUPERSET_TRUTH.ordinal()],1);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.ALLELES_DO_NOT_MATCH.ordinal()],0);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.ALLELES_MATCH.ordinal()],0);
// now flip them around
eval = data.getSecond();
truth = data.getFirst();
codec = new VCFCodec();
evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
metrics.update(eval,truth);
Assert.assertEquals(eval.getGenotype("test1_sample2").getType().ordinal(), 2);
Assert.assertEquals(truth.getGenotype("test1_sample2").getType().ordinal(),2);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getnMismatchingAlt(),1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[1][2],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[1][2],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[3][2],1);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getTable()[1][1],1);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.EVAL_SUPERSET_TRUTH.ordinal()],0);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.EVAL_SUBSET_TRUTH.ordinal()],1);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.ALLELES_DO_NOT_MATCH.ordinal()],0);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.ALLELES_MATCH.ordinal()],0);
}
private Pair<VariantContext,VariantContext> getData3() {
Allele reference_ACT = Allele.create(new byte[]{BaseUtils.Base.A.base,BaseUtils.Base.C.base,BaseUtils.Base.T.base},true);
Allele alt_AC = Allele.create(new byte[]{BaseUtils.Base.A.base,BaseUtils.Base.C.base});
Allele alt_A = Allele.create(BaseUtils.Base.A.base);
Allele alt_ATT = Allele.create(new byte[]{BaseUtils.Base.A.base,BaseUtils.Base.T.base,BaseUtils.Base.T.base});
Genotype sam_1_1_eval = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_ACT,alt_ATT));
Genotype sam_1_2_eval = GenotypeBuilder.create("test1_sample2", Arrays.asList(alt_A,alt_A));
Genotype sam_1_3_eval = GenotypeBuilder.create("test1_sample3", Arrays.asList(reference_ACT,alt_A));
Genotype sam_1_1_truth = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_ACT,alt_AC));
Genotype sam_1_2_truth = GenotypeBuilder.create("test1_sample2", Arrays.asList(alt_A,alt_A));
Genotype sam_1_3_truth = GenotypeBuilder.create("test1_sample3", Arrays.asList(reference_ACT,alt_A));
GenomeLoc loc = genomeLocParser.createGenomeLoc("chr1", 3, 5);
VariantContextBuilder eval_1_builder = new VariantContextBuilder();
VariantContextBuilder truth_1_builder = new VariantContextBuilder();
eval_1_builder.alleles(Arrays.asList(reference_ACT,alt_ATT,alt_A));
truth_1_builder.alleles(Arrays.asList(reference_ACT,alt_AC,alt_A));
eval_1_builder.genotypes(Arrays.asList(sam_1_1_eval,sam_1_2_eval,sam_1_3_eval));
truth_1_builder.genotypes(Arrays.asList(sam_1_1_truth,sam_1_2_truth,sam_1_3_truth));
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
Pair<VariantContext,VariantContext> testData = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
return testData;
}
@Test(enabled=true)
public void testComplex() {
Pair<VariantContext,VariantContext> data = getData3();
VariantContext eval = data.getFirst();
VariantContext truth = data.getSecond();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
metrics.update(eval,truth);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample1").getnMismatchingAlt(),1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[3][3],1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[1][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][2],1);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getTable()[3][3],1);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.EVAL_SUPERSET_TRUTH.ordinal()],0);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.ALLELES_DO_NOT_MATCH.ordinal()],1);
Assert.assertEquals(metrics.getOverallSiteConcordance().getSiteConcordance()[ConcordanceMetrics.SiteConcordanceType.ALLELES_MATCH.ordinal()],0);
}
private Pair<VariantContext,VariantContext> getData4() {
Allele reference_A = Allele.create(BaseUtils.Base.A.base,true);
Allele alt_C = Allele.create(BaseUtils.Base.C.base);
Allele alt_T = Allele.create(BaseUtils.Base.T.base);
Genotype sam_1_1_eval = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_eval = GenotypeBuilder.create("test1_sample2", Arrays.asList(Allele.NO_CALL,Allele.NO_CALL));
Genotype sam_1_3_eval = GenotypeBuilder.create("test1_sample3", Arrays.asList(reference_A,alt_C));
Genotype sam_1_1_truth = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_truth = GenotypeBuilder.create("test1_sample2", Arrays.asList(reference_A,alt_C));
Genotype sam_1_3_truth = GenotypeBuilder.create("test1_sample3", Arrays.asList(Allele.NO_CALL,Allele.NO_CALL));
GenomeLoc loc = genomeLocParser.createGenomeLoc("chr1", 3, 3);
VariantContextBuilder eval_1_builder = new VariantContextBuilder();
VariantContextBuilder truth_1_builder = new VariantContextBuilder();
eval_1_builder.alleles(Arrays.asList(reference_A,alt_C,alt_T));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_C));
eval_1_builder.genotypes(Arrays.asList(sam_1_1_eval,sam_1_2_eval,sam_1_3_eval));
truth_1_builder.genotypes(Arrays.asList(sam_1_1_truth,sam_1_2_truth,sam_1_3_truth));
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
Pair<VariantContext,VariantContext> testData = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
return testData;
}
@Test(enabled=true)
public void testNoCalls() {
Pair<VariantContext,VariantContext> data = getData4();
VariantContext eval = data.getFirst();
VariantContext truth = data.getSecond();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
metrics.update(eval,truth);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getnMismatchingAlt(),0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[0][2],1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][3],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][0],1);
}
private Pair<VariantContext,VariantContext> getData5() {
Allele reference_A = Allele.create(BaseUtils.Base.A.base,true);
Allele alt_C = Allele.create(BaseUtils.Base.C.base);
Allele alt_T = Allele.create(BaseUtils.Base.T.base);
Genotype sam_1_1_eval = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_eval = GenotypeBuilder.create("test1_sample2", new ArrayList<Allele>(0));
Genotype sam_1_3_eval = GenotypeBuilder.create("test1_sample3", Arrays.asList(reference_A,alt_C));
Genotype sam_1_1_truth = GenotypeBuilder.create("test1_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_1_2_truth = GenotypeBuilder.create("test1_sample2", Arrays.asList(reference_A,alt_C));
Genotype sam_1_3_truth = GenotypeBuilder.create("test1_sample3", new ArrayList<Allele>(0));
GenomeLoc loc = genomeLocParser.createGenomeLoc("chr1", 3, 3);
VariantContextBuilder eval_1_builder = new VariantContextBuilder();
VariantContextBuilder truth_1_builder = new VariantContextBuilder();
eval_1_builder.alleles(Arrays.asList(reference_A,alt_C,alt_T));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_C));
eval_1_builder.genotypes(Arrays.asList(sam_1_1_eval,sam_1_2_eval,sam_1_3_eval));
truth_1_builder.genotypes(Arrays.asList(sam_1_1_truth,sam_1_2_truth,sam_1_3_truth));
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
Pair<VariantContext,VariantContext> testData = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
return testData;
}
@Test(enabled=true)
public void testMissing() {
Pair<VariantContext,VariantContext> data = getData5();
VariantContext eval = data.getFirst();
VariantContext truth = data.getSecond();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
metrics.update(eval,truth);
Assert.assertTrue(eval.getGenotype("test1_sample2").getType().equals(GenotypeType.UNAVAILABLE));
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getnMismatchingAlt(),0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[0][2],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample2").getTable()[4][2],1);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][1],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][3],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][0],0);
Assert.assertEquals(metrics.getGenotypeConcordance("test1_sample3").getTable()[2][4],1);
}
private List<Pair<VariantContext,VariantContext>> getData6() {
Allele reference_A = Allele.create(BaseUtils.Base.A.base,true);
Allele alt_C = Allele.create(BaseUtils.Base.C.base);
// site 1 -
// sample 1: hom-ref/hom-ref
// sample 2: het/hom-ref
Genotype sam_2_1_1_eval = GenotypeBuilder.create("test2_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_2_2_1_eval = GenotypeBuilder.create("test2_sample2", Arrays.asList(reference_A,alt_C));
Genotype sam_2_1_1_truth = GenotypeBuilder.create("test2_sample1", Arrays.asList(reference_A,reference_A));
Genotype sam_2_2_1_truth = GenotypeBuilder.create("test2_sample2", Arrays.asList(reference_A,reference_A));
GenomeLoc loc = genomeLocParser.createGenomeLoc("chr1", 3, 3);
VariantContextBuilder eval_1_builder = new VariantContextBuilder();
VariantContextBuilder truth_1_builder = new VariantContextBuilder();
eval_1_builder.alleles(Arrays.asList(reference_A,alt_C));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_C));
eval_1_builder.genotypes(Arrays.asList(sam_2_1_1_eval,sam_2_2_1_eval));
truth_1_builder.genotypes(Arrays.asList(sam_2_1_1_truth,sam_2_2_1_truth));
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
Pair<VariantContext,VariantContext> testDataSite1 = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
reference_A = Allele.create(BaseUtils.Base.A.base,true);
Allele alt_T = Allele.create(BaseUtils.Base.T.base);
// site 2 -
// sample 1: no-call/hom-ref
// sample 2: hom-var/hom-var
Genotype sam_2_1_2_eval = GenotypeBuilder.create("test2_sample1",Arrays.asList(Allele.NO_CALL,Allele.NO_CALL));
Genotype sam_2_2_2_eval = GenotypeBuilder.create("test2_sample2",Arrays.asList(alt_T,alt_T));
Genotype sam_2_1_2_truth = GenotypeBuilder.create("test2_sample1",Arrays.asList(reference_A,reference_A));
Genotype sam_2_2_2_truth = GenotypeBuilder.create("test2_sample2",Arrays.asList(alt_T,alt_T));
loc = genomeLocParser.createGenomeLoc("chr1", 4, 4);
eval_1_builder = new VariantContextBuilder();
truth_1_builder = new VariantContextBuilder();
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
eval_1_builder.alleles(Arrays.asList(reference_A,alt_T));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_T));
eval_1_builder.genotypes(Arrays.asList(sam_2_1_2_eval,sam_2_2_2_eval));
truth_1_builder.genotypes(Arrays.asList(sam_2_1_2_truth,sam_2_2_2_truth));
Pair<VariantContext,VariantContext> testDataSite2 = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
Allele alt_G = Allele.create(BaseUtils.Base.G.base);
// site 3 -
// sample 1: alleles do not match
// sample 2: het/het
Genotype sam_2_1_3_eval = GenotypeBuilder.create("test2_sample1",Arrays.asList(alt_G,alt_T));
Genotype sam_2_2_3_eval = GenotypeBuilder.create("test2_sample2",Arrays.asList(reference_A,alt_T));
Genotype sam_2_1_3_truth = GenotypeBuilder.create("test2_sample1",Arrays.asList(alt_T,alt_T));
Genotype sam_2_2_3_truth = GenotypeBuilder.create("test2_sample2",Arrays.asList(reference_A,alt_T));
loc = genomeLocParser.createGenomeLoc("chr1",5,5);
eval_1_builder = new VariantContextBuilder();
truth_1_builder = new VariantContextBuilder();
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
eval_1_builder.alleles(Arrays.asList(reference_A,alt_T,alt_G));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_T));
eval_1_builder.genotypes(Arrays.asList(sam_2_1_3_eval,sam_2_2_3_eval));
truth_1_builder.genotypes(Arrays.asList(sam_2_1_3_truth,sam_2_2_3_truth));
Pair<VariantContext,VariantContext> testDataSite3 = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
// site 4 -
// sample 1: unavailable/het
// sample 2: unavailable/ref
Genotype sam_2_1_4_eval = GenotypeBuilder.create("test2_sample1",new ArrayList<Allele>(0));
Genotype sam_2_2_4_eval = GenotypeBuilder.create("test2_sample2",new ArrayList<Allele>(0));
Genotype sam_2_1_4_truth = GenotypeBuilder.create("test2_sample1",Arrays.asList(reference_A,alt_T));
Genotype sam_2_2_4_truth = GenotypeBuilder.create("test2_sample2",Arrays.asList(reference_A,reference_A));
loc = genomeLocParser.createGenomeLoc("chr1",6,6);
eval_1_builder = new VariantContextBuilder();
truth_1_builder = new VariantContextBuilder();
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
eval_1_builder.alleles(Arrays.asList(reference_A,alt_T));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_T));
eval_1_builder.genotypes(Arrays.asList(sam_2_1_4_eval,sam_2_2_4_eval));
truth_1_builder.genotypes(Arrays.asList(sam_2_1_4_truth,sam_2_2_4_truth));
Pair<VariantContext,VariantContext> testDataSite4 = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
// site 5 -
// sample 1: hom-var/no-call
// sample 2: het/het
Genotype sam_2_1_5_eval = GenotypeBuilder.create("test2_sample1",Arrays.asList(alt_C,alt_C));
Genotype sam_2_2_5_eval = GenotypeBuilder.create("test2_sample2",Arrays.asList(reference_A,alt_C));
Genotype sam_2_1_5_truth = GenotypeBuilder.create("test2_sample1",Arrays.asList(Allele.NO_CALL,Allele.NO_CALL));
Genotype sam_2_2_5_truth = GenotypeBuilder.create("test2_sample2",Arrays.asList(reference_A,alt_C));
loc = genomeLocParser.createGenomeLoc("chr1",7,7);
eval_1_builder = new VariantContextBuilder();
truth_1_builder = new VariantContextBuilder();
eval_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
truth_1_builder.loc(loc.getContig(),loc.getStart(),loc.getStop());
eval_1_builder.alleles(Arrays.asList(reference_A,alt_C));
truth_1_builder.alleles(Arrays.asList(reference_A,alt_C));
eval_1_builder.genotypes(Arrays.asList(sam_2_1_5_eval,sam_2_2_5_eval));
truth_1_builder.genotypes(Arrays.asList(sam_2_1_5_truth,sam_2_2_5_truth));
Pair<VariantContext,VariantContext> testDataSite5 = new Pair<VariantContext, VariantContext>(eval_1_builder.make(),truth_1_builder.make());
return Arrays.asList(testDataSite1,testDataSite2,testDataSite3,testDataSite4,testDataSite5);
}
@Test(enabled=true)
public void testMultiSite() {
int[][] sample1_expected = new int[GenotypeType.values().length][GenotypeType.values().length];
int[][] sample2_expected = new int[GenotypeType.values().length][GenotypeType.values().length];
// order: no-call,ref,het,hom-var,unavailable,mixed
sample1_expected[0] = new int[]{0,1,0,0,0,0};
sample2_expected[0] = new int[]{0,0,0,0,0,0};
sample1_expected[1] = new int[]{0,1,0,0,0,0};
sample2_expected[1] = new int[]{0,0,0,0,0,0};
sample1_expected[2] = new int[]{0,0,0,0,0,0};
sample2_expected[2] = new int[]{0,1,2,0,0,0};
sample1_expected[3] = new int[]{1,0,0,0,0,0};
sample2_expected[3] = new int[]{0,0,0,1,0,0};
sample1_expected[4] = new int[]{0,0,1,0,0,0};
sample2_expected[4] = new int[]{0,1,0,0,0,0};
List<Pair<VariantContext,VariantContext>> data = getData6();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_2_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_2_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
for ( Pair<VariantContext,VariantContext> contextPair : data ) {
VariantContext eval = contextPair.getFirst();
VariantContext comp = contextPair.getSecond();
logger.warn(eval.toString());
logger.warn(comp.toString());
Assert.assertTrue(eval != null);
Assert.assertTrue(comp != null);
Assert.assertTrue(eval.getGenotype("test2_sample1") != null);
Assert.assertTrue(comp.getGenotype("test2_sample1") != null);
Assert.assertTrue(eval.getGenotype("test2_sample2") != null);
Assert.assertTrue(comp.getGenotype("test2_sample2") != null);
metrics.update(eval,comp);
}
int[][] sample1_observed = metrics.getGenotypeConcordance("test2_sample1").getTable();
int[][] sample2_observed = metrics.getGenotypeConcordance("test2_sample2").getTable();
for ( GenotypeType eType : GenotypeType.values() ) {
for ( GenotypeType cType : GenotypeType.values() ) {
Assert.assertEquals(sample1_expected[eType.ordinal()][cType.ordinal()],sample1_observed[eType.ordinal()][cType.ordinal()]);
Assert.assertEquals(sample2_expected[eType.ordinal()][cType.ordinal()],sample2_observed[eType.ordinal()][cType.ordinal()]);
}
}
}
@Test(enabled=true)
public void testNRD_testNRS_testMargins() {
Pair<VariantContext,VariantContext> data = getData3();
VariantContext eval = data.getFirst();
VariantContext truth = data.getSecond();
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_1_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
int[][] table = metrics.getOverallGenotypeConcordance().getTable();
// set up the table
table[0] = new int[] {30, 12, 7, 5, 6, 0};
table[1] = new int[] {10, 100, 5, 1, 7, 1};
table[2] = new int[] {5, 7, 150, 3, 3, 1};
table[3] = new int[] {3, 2, 6, 50, 1, 0};
table[4] = new int[] {10, 6, 3, 3, 2, 0};
table[5] = new int[] {12, 0, 34, 20, 10, 0};
double EXPEC_NRS = 0.8969957;
double EXPEC_NRD = 0.1071429;
double EXPEC_OGC = 0.92592592; // (100+150+50)/(100+5+1+150+7+3+50+2+6)
Assert.assertEquals(EXPEC_NRS,metrics.getOverallNRS(),1e-7);
Assert.assertEquals(EXPEC_NRD,metrics.getOverallNRD(),1e-7);
Assert.assertEquals(EXPEC_OGC,metrics.getOverallOGC(),1e-7);
int EXPEC_EVAL_REF = 124;
int EXPEC_EVAL_HET = 169;
int EXPEC_EVAL_VAR = 62;
int EXPEC_COMP_REF = 127;
int EXPEC_COMP_HET = 205;
int EXPEC_COMP_VAR = 82;
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getnEvalGenotypes(GenotypeType.HOM_REF),EXPEC_EVAL_REF);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getnEvalGenotypes(GenotypeType.HET),EXPEC_EVAL_HET);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getnEvalGenotypes(GenotypeType.HOM_VAR),EXPEC_EVAL_VAR);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getnCompGenotypes(GenotypeType.HOM_REF),EXPEC_COMP_REF);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getnCompGenotypes(GenotypeType.HET),EXPEC_COMP_HET);
Assert.assertEquals(metrics.getOverallGenotypeConcordance().getnCompGenotypes(GenotypeType.HOM_VAR),EXPEC_COMP_VAR);
}
@Test(enabled=true)
public void testRobustness() {
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_3_HEADER_1))));
VCFHeader disjointCompHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_3_HEADER_2))));
VCFHeader overlapCompHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_3_HEADER_3))));
ConcordanceMetrics disjointMetrics = new ConcordanceMetrics(evalHeader,disjointCompHeader,null);
ConcordanceMetrics overlapMetrics = new ConcordanceMetrics(evalHeader,overlapCompHeader,null);
// test what happens if you put in disjoint sets and start making requests
Assert.assertEquals(0,disjointMetrics.getPerSampleGenotypeConcordance().size());
String msg = "No Exception Thrown";
try {
disjointMetrics.getGenotypeConcordance("test3_sample4");
} catch ( Exception e) {
msg = e.getMessage();
}
Assert.assertEquals("Attempted to request the concordance table for sample test3_sample4 on which it was not calculated",msg);
// test that the overlapping sample is in the overlapping table (basically do this without throwing an exception)
overlapMetrics.getGenotypeConcordance("test3_sample3");
String msg2 = "No Exception Thrown";
try {
disjointMetrics.getGenotypeConcordance("test3_sample4");
} catch ( Exception e) {
msg2 = e.getMessage();
}
Assert.assertEquals("Attempted to request the concordance table for sample test3_sample4 on which it was not calculated",msg2);
// test what happens if you try to calculate NRS and NRD on an empty table
Assert.assertEquals(disjointMetrics.getOverallNRD(), 1.0, 1e-16);
Assert.assertEquals(disjointMetrics.getOverallNRS(), 0.0, 1e-16);
}
public List<Pair<VariantContext,VariantContext>> getData7() {
Allele ref1 = Allele.create(BaseUtils.Base.T.base,true);
Allele alt1 = Allele.create(BaseUtils.Base.C.base);
Allele alt2 = Allele.create(BaseUtils.Base.G.base);
Allele alt3 = Allele.create(BaseUtils.Base.A.base);
GenomeLoc loc1 = genomeLocParser.createGenomeLoc("chr1",1,1);
VariantContextBuilder site1Eval = new VariantContextBuilder();
VariantContextBuilder site1Comp = new VariantContextBuilder();
// site 1: eval superset comp
site1Eval.loc(loc1.getContig(),loc1.getStart(),loc1.getStop());
site1Comp.loc(loc1.getContig(),loc1.getStart(),loc1.getStop());
site1Eval.alleles(Arrays.asList(ref1,alt1,alt2));
site1Comp.alleles(Arrays.asList(ref1,alt2));
site1Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt2)));
site1Comp.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt2)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt2)));
// site 2: eval subset comp
GenomeLoc loc2 = genomeLocParser.createGenomeLoc("chr1",2,2);
VariantContextBuilder site2Eval = new VariantContextBuilder();
VariantContextBuilder site2Comp = new VariantContextBuilder();
site2Eval.loc(loc2.getContig(),loc2.getStart(),loc2.getStop());
site2Comp.loc(loc2.getContig(),loc2.getStart(),loc2.getStop());
site2Eval.alleles(Arrays.asList(ref1,alt1));
site2Comp.alleles(Arrays.asList(ref1,alt1,alt3));
site2Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt1)));
site2Comp.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt3)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt1)));
// site 3: eval only
GenomeLoc loc3 = genomeLocParser.createGenomeLoc("chr1",3,3);
VariantContextBuilder site3Eval = new VariantContextBuilder();
VariantContextBuilder site3Comp = new VariantContextBuilder();
site3Eval.loc(loc3.getContig(),loc3.getStart(),loc3.getStop());
site3Comp.loc(loc3.getContig(),loc3.getStart(),loc3.getStop());
site3Eval.alleles(Arrays.asList(ref1,alt1));
site3Comp.alleles(Arrays.asList(ref1,alt1));
site3Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt1)));
site3Comp.genotypes(GenotypeBuilder.create("test2_sample1",new ArrayList<Allele>(0)),GenotypeBuilder.create("test2_sample2",new ArrayList<Allele>(0)));
// site 4: comp only - monomorphic
GenomeLoc loc4 = genomeLocParser.createGenomeLoc("chr1",4,4);
VariantContextBuilder site4Eval = new VariantContextBuilder();
VariantContextBuilder site4Comp = new VariantContextBuilder();
site4Eval.loc(loc4.getContig(),loc4.getStart(),loc4.getStop());
site4Comp.loc(loc4.getContig(),loc4.getStart(),loc4.getStop());
site4Eval.alleles(Arrays.asList(ref1,alt1));
site4Comp.alleles(Arrays.asList(ref1,alt1));
site4Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,ref1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,ref1)));
site4Comp.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt1)));
// site 5: overlapping
GenomeLoc loc5 = genomeLocParser.createGenomeLoc("chr1",5,5);
VariantContextBuilder site5Eval = new VariantContextBuilder();
VariantContextBuilder site5Comp = new VariantContextBuilder();
site5Eval.loc(loc5.getContig(),loc5.getStart(),loc5.getStop());
site5Comp.loc(loc5.getContig(),loc5.getStart(),loc5.getStop());
site5Eval.alleles(Arrays.asList(ref1,alt1,alt3));
site5Comp.alleles(Arrays.asList(ref1,alt1,alt3));
site5Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(alt1,alt3)));
site5Comp.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(alt1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(alt3,alt3)));
// site 6: some non-matching alts
GenomeLoc loc6 = genomeLocParser.createGenomeLoc("chr1",6,6);
VariantContextBuilder site6Eval = new VariantContextBuilder();
VariantContextBuilder site6Comp = new VariantContextBuilder();
site6Eval.loc(loc6.getContig(),loc6.getStart(),loc6.getStop());
site6Comp.loc(loc6.getContig(),loc6.getStart(),loc6.getStop());
site6Eval.alleles(Arrays.asList(ref1,alt1,alt2));
site6Comp.alleles(Arrays.asList(ref1,alt1,alt3));
site6Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt2)));
site6Comp.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt3)));
// site 7: matching with no-calls
GenomeLoc loc7 = genomeLocParser.createGenomeLoc("chr1",7,7);
VariantContextBuilder site7Eval = new VariantContextBuilder();
VariantContextBuilder site7Comp = new VariantContextBuilder();
site7Eval.loc(loc7.getContig(),loc7.getStart(),loc7.getStop());
site7Comp.loc(loc7.getContig(),loc7.getStart(),loc7.getStop());
site7Eval.alleles(Arrays.asList(ref1,alt1));
site7Comp.alleles(Arrays.asList(ref1,alt1));
site7Eval.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(Allele.NO_CALL,Allele.NO_CALL)));
site7Comp.genotypes(GenotypeBuilder.create("test2_sample1",Arrays.asList(ref1,alt1)),GenotypeBuilder.create("test2_sample2",Arrays.asList(ref1,alt1)));
Pair<VariantContext,VariantContext> site1 = new Pair<VariantContext, VariantContext>(site1Eval.make(),site1Comp.make());
Pair<VariantContext,VariantContext> site2 = new Pair<VariantContext, VariantContext>(site2Eval.make(),site2Comp.make());
Pair<VariantContext,VariantContext> site3 = new Pair<VariantContext, VariantContext>(site3Eval.make(),site3Comp.make());
Pair<VariantContext,VariantContext> site4 = new Pair<VariantContext, VariantContext>(site4Eval.make(),site4Comp.make());
Pair<VariantContext,VariantContext> site5 = new Pair<VariantContext, VariantContext>(site5Eval.make(),site5Comp.make());
Pair<VariantContext,VariantContext> site6 = new Pair<VariantContext, VariantContext>(site6Eval.make(),site6Comp.make());
Pair<VariantContext,VariantContext> site7 = new Pair<VariantContext, VariantContext>(site7Eval.make(),site7Comp.make());
return Arrays.asList(site1,site2,site3,site4,site5,site6,site7);
}
@Test(enabled = true)
public void testSites() {
VCFCodec codec = new VCFCodec();
VCFHeader evalHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_2_HEADER))));
VCFHeader compHeader = (VCFHeader)codec.readActualHeader(codec.makeSourceFromStream(new PositionalBufferedStream(new StringBufferInputStream(TEST_2_HEADER))));
ConcordanceMetrics metrics = new ConcordanceMetrics(evalHeader,compHeader,null);
List<Pair<VariantContext,VariantContext>> data = getData7();
int idx = 0;
int[] expecNotMatch = new int[]{0,0,0,0,0,1,1};
for ( Pair<VariantContext,VariantContext> varPair : data ) {
metrics.update(varPair.getFirst(),varPair.getSecond());
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.ALLELES_DO_NOT_MATCH),expecNotMatch[idx]);
logger.info(idx);
idx++;
}
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.ALLELES_DO_NOT_MATCH),1);
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.ALLELES_MATCH),2);
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.EVAL_ONLY),1);
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.TRUTH_ONLY),1);
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.EVAL_SUBSET_TRUTH),1);
Assert.assertEquals(metrics.getOverallSiteConcordance().get(ConcordanceMetrics.SiteConcordanceType.EVAL_SUPERSET_TRUTH),1);
}
}