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Original file line number Diff line number Diff line change
Expand Up @@ -249,7 +249,7 @@ private String toVcfAcmgInfo(AcmgEvidence acmgEvidence) {
AcmgCriterion.Evidence evidence = entry.getValue();
return (acmgCriterion.evidence() == evidence) ? acmgCriterion.toString() : acmgCriterion + "_" + evidence.displayString();
})
.collect(joining(","));
.collect(joining("&"));
}

private String getRepresentativeAnnotation(List<TranscriptAnnotation> annotations) {
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Original file line number Diff line number Diff line change
Expand Up @@ -409,6 +409,51 @@ void testAnnotatedVariantAcmgDiseaseNameWhitespaceIsReplacedWithUnderscore() {
}

@Test
public void testMultipleAcmgEvidenceInstancesAreJoinedByAmpersand() {
GeneIdentifier geneIdentifier = GeneIdentifier.builder()
.geneId("2263")
.geneSymbol("FGFR2")
.hgncId("HGNC:3689")
.hgncSymbol("FGFR2")
.entrezId("2263")
.ensemblId("ENSG00000066468")
.ucscId("uc021pzz.1")
.build();

Gene gene = new Gene(geneIdentifier);
VariantEvaluation variant = TestVariantFactory.buildVariant(10, 123256215, "T", "G", SampleGenotype.het(), 30, 2.2);
variant.addFilterResult(FilterResult.pass(FilterType.VARIANT_EFFECT_FILTER));
variant.addFilterResult(FilterResult.pass(FilterType.INHERITANCE_FILTER));
variant.setCompatibleInheritanceModes(Set.of(ModeOfInheritance.AUTOSOMAL_DOMINANT));
variant.setContributesToGeneScoreUnderMode(ModeOfInheritance.AUTOSOMAL_DOMINANT);
gene.addVariant(variant);
gene.addPriorityResult(new OmimPriorityResult(gene.getEntrezGeneID(), gene.getGeneSymbol(), 1f, Collections.emptyList(), Collections.emptyMap()));
gene.setCompatibleInheritanceModes(EnumSet.of(ModeOfInheritance.AUTOSOMAL_DOMINANT));

Disease disease = Disease.builder()
.diseaseId("OMIM:101600")
.diseaseName("Pfeiffer syndrome")
.build();

GeneScore adScore = GeneScore.builder()
.acmgAssignments(List.of(AcmgAssignment.of(variant, geneIdentifier, ModeOfInheritance.AUTOSOMAL_DOMINANT, disease, AcmgEvidence.of(Map.of(
AcmgCriterion.PS3, AcmgCriterion.Evidence.STRONG,
AcmgCriterion.PM2, AcmgCriterion.Evidence.MODERATE,
AcmgCriterion.PP3, AcmgCriterion.Evidence.SUPPORTING
)), AcmgClassification.PATHOGENIC)))
.contributingVariants(List.of(variant))
.modeOfInheritance(ModeOfInheritance.AUTOSOMAL_DOMINANT)
.geneIdentifier(geneIdentifier)
.combinedScore(1.0)
.build();
gene.addGeneScore(adScore);

AnalysisResults analysisResults = buildAnalysisResults(sample, analysis, gene);

String vcf = instance.writeString(analysisResults, settings);
final String expected = METADATA_HEADER + CHR_10_CONTIG_HEADER + SAMPLE_HEADER
+ "10\t123256215\t.\tT\tG\t2.20\tPASS\tExomiser={1|10-123256215-T-G_AD|FGFR2|2263|AD|1.0000|1.0000|0.0000|0.0000|0.6000|1|0|missense_variant|FGFR2:uc021pzz.1:c.1694A>C:p.(Glu565Ala)|PATHOGENIC|PS3&PM2&PP3|OMIM:101600|\"Pfeiffer_syndrome\"}\tGT:RD\t0/1:30\n";
assertThat(vcf, equalTo(expected));
void nullVcfPathProducesNoOutfile(@TempDir Path tempDir) throws IOException {
Sample vcfv4Dot3Sample = Sample.builder().vcfPath(null).build();

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