public void OneTranscriptOneHeterozygousSynonymous()
        {
            Genome         genome   = new Genome(Path.Combine(TestContext.CurrentContext.TestDirectory, "TestData", "chr1_sample.fa"));
            VCFParser      vcf      = new VCFParser(Path.Combine(TestContext.CurrentContext.TestDirectory, "TestVcfs", "chr_1_one_heterozygous_synonymous.vcf"));
            List <Variant> variants = vcf.Select(x => new Variant(null, x, genome)).ToList();

            Assert.AreEqual(1, variants.Count);

            GeneModel         geneModel           = new GeneModel(genome, Path.Combine(TestContext.CurrentContext.TestDirectory, "TestData", "chr1_one_transcript.gtf"));
            List <Protein>    proteins_wo_variant = geneModel.Translate(true).ToList();
            List <Transcript> transcripts         = geneModel.ApplyVariants(variants);
            List <Protein>    proteins            = transcripts.Select(t => t.Protein()).ToList();

            Assert.AreEqual(1, geneModel.Genes.Count);
            Assert.AreEqual(1, proteins.Count);
            Assert.AreEqual(1, proteins_wo_variant.Count);
            Assert.AreEqual(1, new HashSet <string> {
                proteins[0].BaseSequence, proteins_wo_variant[0].BaseSequence
            }.Count);
            Assert.IsTrue(proteins.Any(p => p.FullName.Contains(FunctionalClass.SILENT.ToString())));    // synonymous
            Assert.IsTrue(proteins.Any(p => p.FullName.Contains(GenotypeType.HETEROZYGOUS.ToString()))); // synonymous
            Assert.IsTrue(proteins.Any(p => p.FullName.Contains("1:69666")));

            string proteinFasta = Path.Combine(TestContext.CurrentContext.TestDirectory, "TestVcfs", "chr_1_one_heterozygous_synonymous.fasta");

            ProteinDbWriter.WriteFastaDatabase(proteins, proteinFasta, " ");
            string[] proteinFastaLines = File.ReadLines(proteinFasta).ToArray();
            Assert.IsTrue(proteinFastaLines[0].Contains(FunctionalClass.SILENT.ToString())); // synonymous
            Assert.IsTrue(proteinFastaLines[0].Contains("1:69666"));
        }
Exemplo n.º 2
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        public void ParseVcf([Values("testData/NA12878.knowledgebase.snapshot.20131119.b37.vcf.gz")] string fname)
        {
            Assert.IsTrue(File.Exists(fname));

            VCFParser vcp = new VCFParser(fname);
            var j = vcp.First();
            var ii = j.Genotypes;
            var i = vcp.Select(x => x.NoCallCount).Count();

            Console.WriteLine("Count: {0}", i);

        }
Exemplo n.º 3
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        static void Main(string[] args)
        {
            fname = "testData/NA12878.knowledgebase.snapshot.20131119.b37.vcf.gz";
            System.Diagnostics.Stopwatch sw = new System.Diagnostics.Stopwatch();
            sw.Start();
            VCFParser vcp = new VCFParser(fname);
            var       j   = vcp.First();
            var       ii  = j.Genotypes;
            var       i   = vcp.Select(x => x.NoCallCount).Count();

            sw.Stop();
            Console.WriteLine(sw.Elapsed.ToString());
        }
Exemplo n.º 4
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		static void Main (string[] args)
		{
			var fname = "testData/NA12878.knowledgebase.snapshot.20131119.b37.vcf.gz";
			System.Diagnostics.Stopwatch sw = new System.Diagnostics.Stopwatch ();
			sw.Start ();
			VCFParser vcp = new VCFParser (fname);
			var j = vcp.First ();
			var ii = j.Genotypes.Count;
			var i = vcp.Select (x => x.NoCallCount).Count ();
			sw.Stop ();

            Console.WriteLine("Count: {0}/{1}", ii,i);

			Console.WriteLine ("Elapsed: {0}", sw.Elapsed);

		    var anyKey = Console.ReadKey();
		}
Exemplo n.º 5
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 public void test()
 {
     VCFParser             parser  = new VCFParser(Path.Combine(TestContext.CurrentContext.TestDirectory, @"testData", @"NA12878.knowledgebase.snapshot.20131119.b37.vcf.gz"));
     List <VariantContext> context = parser.Select(x => x).ToList();
 }