Beispiel #1
0
        public void SplitReadInSample()
        {
            var annotatedVariant = DataUtilities.GetVariant(DataUtilities.EmptyCachePrefix, null,
                                                            "chr7	127717248	MantaINV:267944:0:1:2:0:0	T	<INV>	.	PASS	END=140789466;SVTYPE=INV;SVLEN=13072218;INV5	PR:SR	78,0:65,0	157,42:252,63");

            Assert.NotNull(annotatedVariant);

            var sample1 = JsonUtilities.GetSampleJson(annotatedVariant, 0);

            Assert.Equal("{\"splitReadCounts\":[65,0],\"pairedEndReadCounts\":[78,0]}", sample1);

            var sample2 = JsonUtilities.GetSampleJson(annotatedVariant, 1);

            Assert.Equal("{\"splitReadCounts\":[252,63],\"pairedEndReadCounts\":[157,42]}", sample2);
        }
        public void LossOfHeterozygosityTest()
        {
            var annotatedVariant = DataUtilities.GetVariant(DataUtilities.EmptyCachePrefix, null,
                                                            "1	11131485	Canvas:REF:1:11131486:16833263	N	<CNV>	61	PASS	SVTYPE=LOH;END=16833263	RC:BC:CN:MCC	.	84:9227:2:2");

            Assert.NotNull(annotatedVariant);

            AssertUtilities.CheckJsonDoesNotContain("\"variantType\":\"loss_of_heterozygosity\"", annotatedVariant);
            AssertUtilities.CheckJsonContains("\"variantType\":\"copy_number_variation\"", annotatedVariant);
            AssertUtilities.CheckJsonDoesNotContain("\"altAllele\":\"LOH\"", annotatedVariant);

            AssertUtilities.CheckSampleCount(2, annotatedVariant);
            var sample = JsonUtilities.GetSampleJson(annotatedVariant, 1);

            Assert.Contains("lossOfHeterozygosity", sample);
        }