Merge pull request #1334 from broadinstitute/db_issue_1294
Fixed treatment of SPAN_DEL in ReadBackedPhasing and MNF merging. Closes #1294.
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commit
e34ec0fbbb
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@ -297,8 +297,8 @@ class PhasingUtils {
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*/
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static boolean mergeIntoMNPvalidationCheck(GenomeLocParser genomeLocParser, VariantContext vc1, VariantContext vc2) {
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// Can only merge "simple" base strings (i.e., SNPs or MNPs, but not indels):
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final boolean vc1CanBeMerged = vc1.isSNP() || vc1.isMNP();
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final boolean vc2CanBeMerged = vc2.isSNP() || vc2.isMNP();
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final boolean vc1CanBeMerged = (vc1.isSNP() || vc1.isMNP()) && !vc1.hasAllele(Allele.SPAN_DEL);
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final boolean vc2CanBeMerged = (vc2.isSNP() || vc2.isMNP()) && !vc2.hasAllele(Allele.SPAN_DEL);
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if (!vc1CanBeMerged || !vc2CanBeMerged)
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return false;
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@ -70,7 +70,6 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest {
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" --no_cmdline_in_header";
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}
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@Test
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public void test1() {
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WalkerTestSpec spec = new WalkerTestSpec(
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@ -170,4 +169,22 @@ public class ReadBackedPhasingIntegrationTest extends WalkerTest {
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Arrays.asList("630816da701b9ea8674c23c91fa61bec"));
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executeTest("Merge SNPs if on the same read", spec);
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}
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@Test
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public void testDontMergeSpanningDeletions() {
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WalkerTestSpec spec = new WalkerTestSpec(
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"-T ReadBackedPhasing" +
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" -R " + b37KGReferenceWithDecoy +
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" -I " + privateTestDir + "phasing_test_with_span_del_1.bam" +
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" -I " + privateTestDir + "phasing_test_with_span_del_2.bam" +
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" -I " + privateTestDir + "phasing_test_with_span_del_3.bam" +
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" -I " + privateTestDir + "phasing_test_with_span_del_4.bam" +
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" --variant " + privateTestDir + "phasing_test_with_span_del.vcf" +
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" -enableMergeToMNP" +
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" -o %s" +
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" --no_cmdline_in_header",
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1,
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Arrays.asList("b334de5ad35665f0d65034197ac05b32"));
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executeTest("Don't merge symbolic SPAN_DEL (*) alleles (into the nonexistent ** MNP).", spec);
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}
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}
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