Exemple #1
0
        public void CosmicOutputTest()
        {
            var sa        = new SupplementaryAnnotationPosition(115256529);
            var saCreator = new SupplementaryPositionCreator(sa);
            var altAllele = "C";

            var cosmicItem1 = new CosmicItem("chr1", 115256529, "COSM1000", "T", altAllele, "TP53",
                                             new HashSet <CosmicItem.CosmicStudy> {
                new CosmicItem.CosmicStudy("", "carcinoma", "oesophagus")
            }, 1,
                                             altAllele);

            var cosmicItem2 = new CosmicItem("chr1", 115256529, "COSM1001", "T", altAllele, "TP53",
                                             new HashSet <CosmicItem.CosmicStudy> {
                new CosmicItem.CosmicStudy("01", "carcinoma", "large_intestine")
            }, 1,
                                             altAllele);

            cosmicItem1.AddCosmicToSa(saCreator);
            cosmicItem2.AddCosmicToSa(saCreator);

            var saReader = new MockSupplementaryAnnotationReader(sa);

            VcfUtilities.FieldContains(saReader,
                                       "chr1\t115256529\t.\tT\tC\t1000\tPASS\t.\tGT\t0/1", "cosmic=1|COSM1000", VcfCommon.InfoIndex);
        }
Exemple #2
0
        public void AllSuppAnnotOutputTest()
        {
            const string altAllele = "C";

            var sa = new SupplementaryAnnotationPosition(115256529);

            var oneKg = new OneKGenAnnotation
            {
                OneKgAllAn = 5008,
                OneKgAllAc = 2130,
                OneKgAmrAn = 694,
                OneKgAmrAc = 250
            };

            var dbSnp = new DbSnpAnnotation
            {
                DbSnp = new List <long> {
                    11554290
                }
            };

            var saCreator = new SupplementaryPositionCreator(sa);

            saCreator.AddExternalDataToAsa(DataSourceCommon.DataSource.OneKg, "C", oneKg);
            saCreator.AddExternalDataToAsa(DataSourceCommon.DataSource.DbSnp, "C", dbSnp);

            var cosmicItem1 = new CosmicItem("chr1", 115256529, "COSM1000", "T", altAllele, "TP53",
                                             new HashSet <CosmicItem.CosmicStudy> {
                new CosmicItem.CosmicStudy("", "carcinoma", "oesophagus")
            }, 1,
                                             altAllele);

            var cosmicItem2 = new CosmicItem("chr1", 115256529, "COSM1001", "T", altAllele, "TP53",
                                             new HashSet <CosmicItem.CosmicStudy> {
                new CosmicItem.CosmicStudy("01", "carcinoma", "large_intestine")
            }, 1,
                                             altAllele);

            cosmicItem1.AddCosmicToSa(saCreator);
            cosmicItem2.AddCosmicToSa(saCreator);

            var clinvarItem1 = new ClinVarItem(null, 0, null, altAllele, null, "RCV001",
                                               null, null, new List <string> {
                "ORPHA2462"
            }, null, null, "other");

            sa.ClinVarItems.Add(clinvarItem1);

            var saReader   = new MockSupplementaryAnnotationReader(sa);
            var infoColumn = VcfUtilities.GetVcfColumn(saReader,
                                                       "chr1\t115256529\t.\tT\tC\t1000\tPASS\t.\tGT\t0/1", VcfCommon.InfoIndex);

            Assert.Contains("AF1000G=0.425319", infoColumn);
            Assert.Contains("cosmic=1|COSM1000,1|COSM1001", infoColumn);
            Assert.Contains("clinvar=1|other", infoColumn);
        }