restructure and add more tests
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069398ad46
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a7fba5c209
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@ -56,13 +56,15 @@ import htsjdk.variant.variantcontext.*;
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import java.io.File;
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import java.io.FileNotFoundException;
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import java.util.ArrayList;
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import java.util.Arrays;
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import java.util.List;
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import org.broadinstitute.gatk.utils.GenomeLocParser;
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import org.broadinstitute.gatk.utils.BaseTest;
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import org.broadinstitute.gatk.utils.fasta.CachingIndexedFastaSequenceFile;
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import org.testng.Assert;
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import org.testng.annotations.BeforeClass;
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import org.testng.annotations.BeforeSuite;
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import org.testng.annotations.DataProvider;
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import org.testng.annotations.Test;
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@ -70,31 +72,30 @@ public class PhasingUtilsUnitTest extends BaseTest {
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private final int start = 10;
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private ReferenceSequenceFile referenceFile;
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private Genotype genotype1;
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private Genotype genotype2;
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private String contig;
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private List<Allele> alleleList1;
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private List<Allele> alleleList2;
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@BeforeClass
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@BeforeSuite
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public void init() throws FileNotFoundException {
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referenceFile = new CachingIndexedFastaSequenceFile(new File(b37KGReference));
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referenceFile = new CachingIndexedFastaSequenceFile(new File("/Users/ronlevine/src/human_g1k_v37.fasta"));
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alleleList1 = Arrays.asList(Allele.create("T", true), Allele.create("C", false));
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alleleList2 = Arrays.asList(Allele.create("G", true), Allele.create("A", false));
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genotype1 = new GenotypeBuilder().name("sample1").attribute("HP", new String[]{"10-1", "10-2"}).alleles(alleleList1).make();
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genotype2 = new GenotypeBuilder().name("sample2").attribute("HP", new String[]{"10-2", "10-1"}).alleles(alleleList2).make();
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contig = new String("1");
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}
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@Test
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public void TestMatchHaplotypeAllelesKeyHP() {
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", false));
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alleleList1.add(Allele.create("C", false));
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final Genotype genotype1 = new GenotypeBuilder("TC").attribute("HP", new String[]{"10-1", "10-2"}).alleles(alleleList1).make();
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// Attributes in different order
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("G", false));
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alleleList2.add(Allele.create("A", false));
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final Genotype genotype2 = new GenotypeBuilder("GA").attribute("HP", new String[]{"10-2", "10-1"}).alleles(alleleList2).make();
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PhasingUtils.SameHaplotypeAlleles sameHaplotypeAlleles = PhasingUtils.matchHaplotypeAlleles(genotype1, genotype2);
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PhasingUtils.SameHaplotypeAlleles sameHaplotypeAllelesAnswer = new PhasingUtils.SameHaplotypeAlleles();
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("T", false), Allele.create("A", false)));
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("C", false), Allele.create("G", false)));
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("T", true), Allele.create("A", false)));
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("C", false), Allele.create("G", true)));
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sameHaplotypeAllelesAnswer.requiresSwap = true;
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Assert.assertEquals(sameHaplotypeAlleles.hapAlleles, sameHaplotypeAllelesAnswer.hapAlleles);
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@ -104,22 +105,12 @@ public class PhasingUtilsUnitTest extends BaseTest {
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@Test
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public void TestMatchHaplotypeAllelesNoKeyHP() {
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", false));
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alleleList1.add(Allele.create("C", false));
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final Genotype genotype1 = new GenotypeBuilder("TC").alleles(alleleList1).make();
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// Attributes in different order
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("G", false));
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alleleList2.add(Allele.create("A", false));
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final Genotype genotype2 = new GenotypeBuilder("GA").alleles(alleleList2).make();
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// Must match because the same genotype
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PhasingUtils.SameHaplotypeAlleles sameHaplotypeAlleles = PhasingUtils.matchHaplotypeAlleles(genotype1, genotype2);
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Genotype genotype3 = new GenotypeBuilder().name("TC").alleles(alleleList1).make();
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Genotype genotype4 = new GenotypeBuilder().name("GA").alleles(alleleList2).make();
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PhasingUtils.SameHaplotypeAlleles sameHaplotypeAlleles = PhasingUtils.matchHaplotypeAlleles(genotype3, genotype4);
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PhasingUtils.SameHaplotypeAlleles sameHaplotypeAllelesAnswer = new PhasingUtils.SameHaplotypeAlleles();
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("T", false), Allele.create("G", false)));
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("T", true), Allele.create("G", true)));
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sameHaplotypeAllelesAnswer.hapAlleles.add(new PhasingUtils.AlleleOneAndTwo(Allele.create("C", false), Allele.create("A", false)));
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Assert.assertEquals(sameHaplotypeAlleles.hapAlleles, sameHaplotypeAllelesAnswer.hapAlleles);
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Assert.assertEquals(sameHaplotypeAlleles.requiresSwap, sameHaplotypeAllelesAnswer.requiresSwap);
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@ -127,31 +118,49 @@ public class PhasingUtilsUnitTest extends BaseTest {
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@Test
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public void TestMergeIntoMNPvalidationTrueCheck() {
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final String contig = new String("1");
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", true));
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alleleList1.add(Allele.create("C", false));
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("A", true));
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alleleList2.add(Allele.create("C", false));
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final VariantContext vc1 = new VariantContextBuilder("TC", contig, start, start, alleleList1).make();
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final VariantContext vc2 = new VariantContextBuilder("AC", contig, start+1, start+1, alleleList2).make();
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// TODO - genotypes must have the same sample name
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GenomeLocParser genomeLocParser = new GenomeLocParser(referenceFile);
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).make();
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Assert.assertTrue(PhasingUtils.mergeIntoMNPvalidationCheck(genomeLocParser, vc1, vc2));
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}
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@Test
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public void TestMergeIntoMNPvalidationCheckLocBefore() {
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final String contig = new String("1");
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", true));
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alleleList1.add(Allele.create("C", false));
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("A", true));
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alleleList2.add(Allele.create("C", false));
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final VariantContext vc1 = new VariantContextBuilder("TC", contig, start+1, start+1, alleleList1).make();
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final VariantContext vc2 = new VariantContextBuilder("AC", contig, start, start, alleleList2).make();
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start+1).stop(start+1).alleles(alleleList1).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start).stop(start).alleles(alleleList2).make();
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GenomeLocParser genomeLocParser = new GenomeLocParser(referenceFile);
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Assert.assertFalse(PhasingUtils.mergeIntoMNPvalidationCheck(genomeLocParser, vc1, vc2));
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}
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@Test
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public void TestMergeIntoMNPvalidationFiltered() {
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List<String> filters = Arrays.asList("filter");
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Genotype genotype = new GenotypeBuilder().name("sample").attribute("HP", new String[]{"10-1", "10-2"}).alleles(alleleList1).filters(filters).make();
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(genotype).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).genotypes(genotype2).make();
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GenomeLocParser genomeLocParser = new GenomeLocParser(referenceFile);
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Assert.assertFalse(PhasingUtils.mergeIntoMNPvalidationCheck(genomeLocParser, vc1, vc2));
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}
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@Test
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public void TestMergeIntoMNPvalidationNoCall() {
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List<Allele> alleleList = Arrays.asList(Allele.create("T", true), Allele.create(".", false));
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Genotype genotype = new GenotypeBuilder().name("sample").attribute("HP", new String[]{"10-1", "10-2"}).alleles(alleleList).make();
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(genotype).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).genotypes(genotype2).make();
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GenomeLocParser genomeLocParser = new GenomeLocParser(referenceFile);
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Assert.assertFalse(PhasingUtils.mergeIntoMNPvalidationCheck(genomeLocParser, vc1, vc2));
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}
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@Test
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public void TestMergeIntoMNPvalidationDiffSampleNames() {
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(genotype1).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).genotypes(genotype2).make();
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GenomeLocParser genomeLocParser = new GenomeLocParser(referenceFile);
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Assert.assertFalse(PhasingUtils.mergeIntoMNPvalidationCheck(genomeLocParser, vc1, vc2));
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@ -159,16 +168,8 @@ public class PhasingUtilsUnitTest extends BaseTest {
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@Test
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public void TestMergeIntoMNPvalidationDiffContigs() {
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final String contig1 = new String("1");
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final String contig2 = new String("2");
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", true));
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alleleList1.add(Allele.create("C", false));
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("A", true));
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alleleList2.add(Allele.create("C", false));
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final VariantContext vc1 = new VariantContextBuilder("TC", contig1, start+1, start+1, alleleList1).make();
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final VariantContext vc2 = new VariantContextBuilder("AC", contig2, start, start, alleleList2).make();
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(genotype1).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).genotypes(genotype2).make();
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GenomeLocParser genomeLocParser = new GenomeLocParser(referenceFile);
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Assert.assertFalse(PhasingUtils.mergeIntoMNPvalidationCheck(genomeLocParser, vc1, vc2));
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@ -182,40 +183,23 @@ public class PhasingUtilsUnitTest extends BaseTest {
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@Test
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public void TestMergeVariantContextAttributes() {
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final String contig = new String("1");
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", true));
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alleleList1.add(Allele.create("C", false));
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("A", true));
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alleleList2.add(Allele.create("C", false));
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final VariantContext vc1 = new VariantContextBuilder("TC", contig, start, start, alleleList1).make();
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final VariantContext vc2 = new VariantContextBuilder("AC", contig, start+1, start+1, alleleList2).make();
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(genotype1).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).genotypes(genotype2).make();
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Assert.assertEquals(0, PhasingUtils.mergeVariantContextAttributes(vc1, vc2).size());
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}
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@Test
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public void TestAllSamplesAreMergeableDiffSampleNames() {
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final String contig = new String("1");
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final List<Allele> alleleList1 = new ArrayList<>();
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alleleList1.add(Allele.create("T", true));
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alleleList1.add(Allele.create("C", false));
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final List<Allele> alleleList2 = new ArrayList<>();
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alleleList2.add(Allele.create("A", true));
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alleleList2.add(Allele.create("C", false));
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(genotype1).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("id2").source("AC").start(start+1).stop(start+1).alleles(alleleList2).genotypes(genotype2).make();
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final Genotype g1 = new GenotypeBuilder().name("sample1").alleles(alleleList1).make();
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final VariantContext vc1 = new VariantContextBuilder().chr(contig).id("id1").source("TC").start(start).stop(start).alleles(alleleList1).genotypes(g1).make();
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Genotype g2 = new GenotypeBuilder().name("sample2").alleles(alleleList2).make();
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final VariantContext vc2 = new VariantContextBuilder().chr(contig).id("i21").source("AC").start(start).stop(start).alleles(alleleList2).genotypes(g2).make();
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Assert.assertFalse( PhasingUtils.allSamplesAreMergeable(vc1, vc2));
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Assert.assertFalse(PhasingUtils.allSamplesAreMergeable(vc1, vc2));
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}
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@Test
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public void TestAlleleSegregationIsKnown(){
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Assert.assertTrue(PhasingUtils.alleleSegregationIsKnown(genotype1, genotype2));
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}
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@Test
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