Beispiel #1
0
        public void ExtractDgvComplex()
        {
            const string dgvLine = "esv2421662	1	12841928	12971833	OTHER	complex	Altshuler_et_al_2010	20811451	SNP array			essv5038349,essv5012238	M		1184	20	70		HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4	NA10838,NA10847";

            var dgvItem    = DgvReader.ExtractDgvItem(dgvLine, ChromosomeUtilities.RefNameToChromosome);
            var jsonString = dgvItem.GetJsonString();

            Assert.Equal("\"chromosome\":\"1\",\"begin\":12841928,\"end\":12971833,\"variantType\":\"complex_structural_alteration\",\"id\":\"esv2421662\",\"sampleSize\":1184,\"observedGains\":20,\"observedLosses\":70,\"variantFreqAll\":0.07601", jsonString);
        }
Beispiel #2
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        public void ExtractDgvCnv()
        {
            const string dgvLine = "nsv482937	1	1	2300000	CNV	loss	Iafrate_et_al_2004	15286789	BAC aCGH,FISH			nssv2995976	M		39	0	1		ACAP3,AGRN,WASH7P	";

            var dgvItem    = DgvReader.ExtractDgvItem(dgvLine, ChromosomeUtilities.RefNameToChromosome);
            var jsonString = dgvItem.GetJsonString();

            Assert.Equal("\"chromosome\":\"1\",\"begin\":1,\"end\":2300000,\"variantType\":\"copy_number_loss\",\"id\":\"nsv482937\",\"sampleSize\":39,\"observedLosses\":1,\"variantFreqAll\":0.02564", jsonString);
        }
Beispiel #3
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        public void EmptyObservedLossesAndGains()
        {
            const string dgvLine = "nsv161172	1	88190	89153	CNV	deletion	Mills_et_al_2006	16902084	Sequencing			nssv179750	M		24					";

            var dgvItem    = DgvReader.ExtractDgvItem(dgvLine, ChromosomeUtilities.RefNameToChromosome);
            var jsonString = dgvItem.GetJsonString();

            Assert.Equal("\"chromosome\":\"1\",\"begin\":88190,\"end\":89153,\"variantType\":\"copy_number_loss\",\"id\":\"nsv161172\",\"sampleSize\":24", jsonString);
            //Assert.Equal("1", dgvInterval.Chromosome.EnsemblName);
            //Assert.Equal(88190, dgvInterval.Start);
            //Assert.Equal(89153, dgvInterval.End);
            //Assert.Equal("copy_number_loss", dgvInterval.VariantType.ToString());
            //Assert.Equal("dgv", dgvInterval.Source);
            //Assert.Equal("nsv161172", dgvInterval.StringValues["id"]);
            //Assert.Equal(24, dgvInterval.IntValues["sampleSize"]);
            //Assert.False(dgvInterval.IntValues.ContainsKey("observedGains"));
            //Assert.False(dgvInterval.IntValues.ContainsKey("observedLosses"));
            //Assert.False(dgvInterval.PopulationFrequencies.ContainsKey("variantFreqAll"));
        }
Beispiel #4
0
        public void ExtractDgvComplex()
        {
            const string dgvLine = "esv2421662	1	12841928	12971833	OTHER	complex	Altshuler_et_al_2010	20811451	SNP array			essv5038349,essv5012238	M		1184	20	70		HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4	NA10838,NA10847";

            var dgvItem = DgvReader.ExtractDgvItem(dgvLine, _renamer);

            Assert.True(dgvItem.IsInterval);

            var dgvInterval = dgvItem.GetSupplementaryInterval(_renamer);

            Assert.Equal(12841928, dgvInterval.Start);
            Assert.Equal(12971833, dgvInterval.End);
            Assert.Equal("complex_structural_alteration", dgvInterval.VariantType.ToString());
            Assert.Equal("DGV", dgvInterval.Source);
            Assert.Equal("esv2421662", dgvInterval.StringValues["id"]);
            Assert.Equal("0.07601", dgvInterval.PopulationFrequencies["variantFreqAll"].ToString("0.#####"));
            Assert.Equal(1184, dgvInterval.IntValues["sampleSize"]);
            Assert.Equal(70, dgvInterval.IntValues["observedLosses"]);
            Assert.Equal(20, dgvInterval.IntValues["observedGains"]);
        }
Beispiel #5
0
        public void ExtractDgvCnv()
        {
            const string dgvLine = "nsv482937	1	1	2300000	CNV	loss	Iafrate_et_al_2004	15286789	BAC aCGH,FISH			nssv2995976	M		39	0	1		ACAP3,AGRN,WASH7P	";

            var dgvItem = DgvReader.ExtractDgvItem(dgvLine, _renamer);

            Assert.True(dgvItem.IsInterval);

            var dgvInterval = dgvItem.GetSupplementaryInterval(_renamer);

            Assert.Equal(1, dgvInterval.Start);
            Assert.Equal(2300000, dgvInterval.End);
            Assert.Equal("copy_number_loss", dgvInterval.VariantType.ToString());
            Assert.Equal("DGV", dgvInterval.Source);
            Assert.Equal("nsv482937", dgvInterval.StringValues["id"]);
            Assert.Equal("0.02564", dgvInterval.PopulationFrequencies["variantFreqAll"].ToString("0.#####"));
            Assert.Equal(39, dgvInterval.IntValues["sampleSize"]);
            Assert.Equal(1, dgvInterval.IntValues["observedLosses"]);
            Assert.False(dgvInterval.IntValues.ContainsKey("observedGains"));
        }
Beispiel #6
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        public void EmptyObservedLossesAndGains()
        {
            const string dgvLine = "nsv161172	1	88190	89153	CNV	deletion	Mills_et_al_2006	16902084	Sequencing			nssv179750	M		24					";

            var dgvItem = DgvReader.ExtractDgvItem(dgvLine, _renamer);

            Assert.True(dgvItem.IsInterval);

            var dgvInterval = dgvItem.GetSupplementaryInterval(_renamer);

            Assert.Equal("1", dgvInterval.ReferenceName);
            Assert.Equal(88190, dgvInterval.Start);
            Assert.Equal(89153, dgvInterval.End);
            Assert.Equal("copy_number_loss", dgvInterval.VariantType.ToString());
            Assert.Equal("DGV", dgvInterval.Source);
            Assert.Equal("nsv161172", dgvInterval.StringValues["id"]);
            Assert.Equal(24, dgvInterval.IntValues["sampleSize"]);
            Assert.False(dgvInterval.IntValues.ContainsKey("observedGains"));
            Assert.False(dgvInterval.IntValues.ContainsKey("observedLosses"));
            Assert.False(dgvInterval.PopulationFrequencies.ContainsKey("variantFreqAll"));
        }