public void CosmicAltAllele() { var seqProvider = ParserTestUtils.GetSequenceProvider(6928019, "C", 'A', ChromosomeUtilities.RefNameToChromosome); var cosmicReader = new MergedCosmicReader(Resources.TopPath("COSM983708.vcf"), Resources.TopPath("COSM983708.tsv"), seqProvider); var items = cosmicReader.GetItems().ToList(); Assert.Single((IEnumerable)items); Assert.Contains("\"refAllele\":\"-\"", items[0].GetJsonString()); }
public void CosmicAlleleSpecificIndel() { //10188320 var seqProvider = ParserTestUtils.GetSequenceProvider(10188320, "G", 'A', ChromosomeUtilities.RefNameToChromosome); var cosmicReader = new MergedCosmicReader(Resources.TopPath("COSM18152.vcf"), Resources.TopPath("COSM18152.tsv"), seqProvider); var items = cosmicReader.GetItems(); Assert.Single(items); }
private static ExitCodes ProgramExecution() { var referenceProvider = new ReferenceSequenceProvider(FileUtilities.GetReadStream(_compressedReference)); var cosmicReader = new MergedCosmicReader(_vcfFile, _tsvFile, referenceProvider); var version = DataSourceVersionReader.GetSourceVersion(_vcfFile + ".version"); string outFileName = $"{version.Name}_{version.Version}"; using (var nsaStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix))) using (var indexStream = FileUtilities.GetCreateStream(Path.Combine(_outputDirectory, outFileName + SaCommon.SaFileSuffix + SaCommon.IndexSufix))) using (var nsaWriter = new NsaWriter(new ExtendedBinaryWriter(nsaStream), new ExtendedBinaryWriter(indexStream), version, referenceProvider, SaCommon.CosmicTag, false, true, SaCommon.SchemaVersion, false)) { nsaWriter.Write(cosmicReader.GetItems()); } return(ExitCodes.Success); }
public void TwoStudyCosmicCoding() { var seqProvider = ParserTestUtils.GetSequenceProvider(35416, "A", 'C', ChromosomeUtilities.RefNameToChromosome); var cosmicReader = new MergedCosmicReader(Resources.TopPath("cosm5428243.vcf"), Resources.TopPath("cosm5428243.tsv"), seqProvider); var cosmicItem = cosmicReader.GetItems().ToList()[0]; var studies = cosmicItem.Studies.ToList(); Assert.Equal("544", studies[0].Id); Assert.Equal(new[] { "haematopoietic and lymphoid tissue" }, studies[0].Sites); Assert.Equal(new[] { "haematopoietic neoplasm" }, studies[0].Histologies); //Assert.Equal(new [] { "haematopoietic neoplasm", "acute myeloid leukaemia" }, study.Histologies); Assert.Equal("544", studies[1].Id); Assert.Equal(new[] { "haematopoietic;lymphoid tissue" }, studies[1].Sites); Assert.Equal(new[] { "haematopoietic neoplasm" }, studies[1].Histologies); //Assert.Equal(new[] { "haematopoietic_neoplasm", "acute_myeloid_leukaemia" }, study.Histologies); }