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);
        }
Example #3
0
        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);
        }