public void TwoStudyCosmicCoding()
        {
            var cosmicReader = new MergedCosmicReader(Resources.TopPath("cosm5428243.vcf"), Resources.TopPath("cosm5428243.tsv"), _renamer);

            var enumerator = cosmicReader.GetEnumerator();

            enumerator.MoveNext();
            var cosmicItem = enumerator.Current;

            foreach (var study in cosmicItem.Studies)
            {
                Assert.Equal("544", study.ID);
                Assert.Equal("haematopoietic_and_lymphoid_tissue", study.PrimarySite);
                Assert.Equal("haematopoietic_neoplasm", study.Histology);
            }

            enumerator.MoveNext();
            cosmicItem = enumerator.Current;
            foreach (var study in cosmicItem.Studies)
            {
                Assert.Equal("544", study.ID);
                Assert.Equal("haematopoietic;lymphoid_tissue", study.PrimarySite);
                Assert.Equal("haematopoietic_neoplasm", study.Histology);
            }

            enumerator.Dispose();
        }
Example #2
0
        // constructor
        public CreateSupplementaryDatabase(
            string compressedReferencePath,
            string nsdBaseFileName,
            string dbSnpFileName        = null,
            string cosmicVcfFile        = null,
            string cosmicTsvFile        = null,
            string clinVarFileName      = null,
            string oneKGenomeAfFileName = null,
            string evsFileName          = null,
            string exacFileName         = null,
            List <string> customFiles   = null,
            string dgvFileName          = null,
            string oneKSvFileName       = null,
            string clinGenFileName      = null,
            string chrWhiteList         = null)
        {
            _nsdBaseFileName = nsdBaseFileName;
            _dataSources     = new List <DataSourceVersion>();

            _iSupplementaryDataItemList = new List <IEnumerator <SupplementaryDataItem> >();
            _supplementaryIntervalList  = new List <SupplementaryInterval>();

            Console.WriteLine("Creating supplementary annotation files... Data version: {0}, schema version: {1}", SupplementaryAnnotationCommon.DataVersion, SupplementaryAnnotationCommon.SchemaVersion);

            _compressedSequence = new CompressedSequence();
            var compressedSequenceReader = new CompressedSequenceReader(FileUtilities.GetReadStream(compressedReferencePath), _compressedSequence);

            _renamer         = _compressedSequence.Renamer;
            _dataFileManager = new DataFileManager(compressedSequenceReader, _compressedSequence);

            if (!string.IsNullOrEmpty(chrWhiteList))
            {
                Console.WriteLine("Creating SA for the following chromosomes only:");
                foreach (var refSeq in chrWhiteList.Split(','))
                {
                    InputFileParserUtilities.ChromosomeWhiteList.Add(_renamer.GetEnsemblReferenceName(refSeq));
                    Console.Write(refSeq + ",");
                }
                Console.WriteLine();
            }
            else
            {
                InputFileParserUtilities.ChromosomeWhiteList = null;
            }

            if (dbSnpFileName != null)
            {
                AddSourceVersion(dbSnpFileName);

                var dbSnpReader     = new DbSnpReader(new FileInfo(dbSnpFileName), _renamer);
                var dbSnpEnumerator = dbSnpReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(dbSnpEnumerator);
            }

            if (cosmicVcfFile != null && cosmicTsvFile != null)
            {
                AddSourceVersion(cosmicVcfFile);

                var cosmicReader     = new MergedCosmicReader(cosmicVcfFile, cosmicTsvFile, _renamer);
                var cosmicEnumerator = cosmicReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(cosmicEnumerator);
            }

            if (oneKGenomeAfFileName != null)
            {
                AddSourceVersion(oneKGenomeAfFileName);

                var oneKGenReader     = new OneKGenReader(new FileInfo(oneKGenomeAfFileName), _renamer);
                var oneKGenEnumerator = oneKGenReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(oneKGenEnumerator);
            }

            if (oneKSvFileName != null)
            {
                if (oneKGenomeAfFileName == null)
                {
                    AddSourceVersion(oneKSvFileName);
                }

                var oneKGenSvReader     = new OneKGenSvReader(new FileInfo(oneKSvFileName), _renamer);
                var oneKGenSvEnumerator = oneKGenSvReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(oneKGenSvEnumerator);
            }

            if (evsFileName != null)
            {
                AddSourceVersion(evsFileName);

                var evsReader     = new EvsReader(new FileInfo(evsFileName), _renamer);
                var evsEnumerator = evsReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(evsEnumerator);
            }

            if (exacFileName != null)
            {
                AddSourceVersion(exacFileName);

                var exacReader     = new ExacReader(new FileInfo(exacFileName), _renamer);
                var exacEnumerator = exacReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(exacEnumerator);
            }

            if (clinVarFileName != null)
            {
                AddSourceVersion(clinVarFileName);

                var clinVarReader = new ClinVarXmlReader(new FileInfo(clinVarFileName), compressedSequenceReader, _compressedSequence);

                var clinVarList = clinVarReader.ToList();

                clinVarList.Sort();
                Console.WriteLine($"{clinVarList.Count} clinvar items read form XML file");

                IEnumerator <ClinVarItem> clinVarEnumerator = clinVarList.GetEnumerator();
                _iSupplementaryDataItemList.Add(clinVarEnumerator);
            }

            if (dgvFileName != null)
            {
                AddSourceVersion(dgvFileName);

                var dgvReader     = new DgvReader(new FileInfo(dgvFileName), _renamer);
                var dgvEnumerator = dgvReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(dgvEnumerator);
            }

            if (clinGenFileName != null)
            {
                AddSourceVersion(clinGenFileName);
                var clinGenReader     = new ClinGenReader(new FileInfo(clinGenFileName), _renamer);
                var clinGenEnumerator = clinGenReader.GetEnumerator();
                _iSupplementaryDataItemList.Add(clinGenEnumerator);
            }

            if (customFiles != null)
            {
                foreach (var customFile in customFiles)
                {
                    AddSourceVersion(customFile);

                    var customReader     = new CustomAnnotationReader(new FileInfo(customFile), _renamer);
                    var customEnumerator = customReader.GetEnumerator();
                    _iSupplementaryDataItemList.Add(customEnumerator);
                }
            }

            // initializing the IEnumerators in the list
            foreach (var iDataEnumerator in _iSupplementaryDataItemList)
            {
                if (!iDataEnumerator.MoveNext())
                {
                    _iSupplementaryDataItemList.Remove(iDataEnumerator);
                }
            }

            _additionalItemsList = new List <SupplementaryDataItem>();
        }