コード例 #1
0
        public void RemoveConflictingAlleles_does_not_remove_duplicates()
        {
            var seqProvider  = ParserTestUtils.GetSequenceProvider(70220313, "TGCC", 'A', _chromDict);
            var topMedReader = new TopMedReader(new StreamReader(GetDupItemsStream()), seqProvider);

            var items   = topMedReader.GetItems().ToList();
            var saItems = new List <ISupplementaryDataItem>(items);

            saItems = SuppDataUtilities.RemoveConflictingAlleles(saItems, false);
            Assert.Single(saItems);
        }
コード例 #2
0
        public void GetItems_test()
        {
            var sequence = new SimpleSequence(new string('T', VariantUtils.MaxUpstreamLength) + "A" + new string('T', 10146 - 10128) + "AC" + new string('T', 10177 - 10146 - 1) + "A", 10128 - 1 - VariantUtils.MaxUpstreamLength);

            var seqProvider  = new SimpleSequenceProvider(GenomeAssembly.GRCh37, sequence, _chromDict);
            var gnomadReader = new TopMedReader(new StreamReader(GetStream()), seqProvider);

            var items = gnomadReader.GetItems().ToList();

            Assert.Equal(3, items.Count);
            Assert.Equal("\"allAf\":0.00266,\"allAn\":125568,\"allAc\":334,\"allHc\":0,\"failedFilter\":true", items[0].GetJsonString());
        }
コード例 #3
0
        private static ExitCodes ProgramExecution()
        {
            var referenceProvider = new ReferenceSequenceProvider(FileUtilities.GetReadStream(_compressedReference));
            var version           = DataSourceVersionReader.GetSourceVersion(_inputFile + ".version");

            string outFileName = $"{version.Name}_{version.Version}";

            using (var topMedReader = new TopMedReader(GZipUtilities.GetAppropriateStreamReader(_inputFile), referenceProvider))
                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(nsaStream, indexStream, version, referenceProvider, SaCommon.TopMedTag, true, false, SaCommon.SchemaVersion, false))
                        {
                            nsaWriter.Write(topMedReader.GetItems());
                        }

            return(ExitCodes.Success);
        }