Esempio n. 1
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        public CreateOmimDatabase(string omimFile, string outputDirectory)
        {
            if (omimFile == null)
            {
                return;
            }

            _outputFile = Path.Combine(outputDirectory, OmimDatabaseCommon.OmimDatabaseFileName);

            _omimReader = new OmimReader(new FileInfo(omimFile));

            _dataVersion = AddSourceVersion(omimFile);
        }
Esempio n. 2
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        void TestOmimParser()
        {
            var expectedOmimEntries = new List <string>
            {
                "{\"mimNumber\":\"601405\",\"hgnc\":\"CTRC\",\"description\":\"Chymotrypsin\",\"phenotypes\":[{\"mimNumber\":\"167800\",\"phenotype\":\"Pancreatitis, chronic, susceptibility to\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Autosomal dominant\"],\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"}]}",
                "{\"mimNumber\":\"606928\",\"hgnc\":\"BMND3\",\"description\":\"Bone mineral density QTL 3\",\"phenotypes\":[{\"mimNumber\":\"606928\",\"phenotype\":\"Bone mineral density QTL 3\",\"mapping\":\"disease phenotype itself was mapped\",\"comments\":\"nondiseases\"}]}",
                "{\"mimNumber\":\"103730\",\"hgnc\":\"ADH1C\",\"description\":\"Alcohol dehydrogenase IC (class I), gamma polypeptide\",\"phenotypes\":[{\"mimNumber\":\"103780\",\"phenotype\":\"Alcohol dependence, protection against\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Multifactorial\"],\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"},{\"mimNumber\":\"168600\",\"phenotype\":\"Parkinson disease, susceptibility to\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Isolated cases\",\"Multifactorial\"],\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"}]}",
                "{\"mimNumber\":\"162230\",\"hgnc\":\"NEFH\",\"description\":\"Neurofilament, heavy polypeptide\",\"phenotypes\":[{\"mimNumber\":\"105400\",\"phenotype\":\"Amyotrophic lateral sclerosis, susceptibility to\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Autosomal recessive\",\"Autosomal dominant\"],\"comments\":\"unconfirmed or possibly spurious mapping\"},{\"mimNumber\":\"616924\",\"phenotype\":\"Charcot-Marie-Tooth disease, axonal, type 2CC\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Autosomal dominant\"]}]}",
                "{\"mimNumber\":\"615410\",\"hgnc\":\"MRAP2\",\"description\":\"Melanocortin 2 receptor accessory protein 2\",\"phenotypes\":[{\"mimNumber\":\"615457\",\"phenotype\":\"Obesity, susceptibility to, BMIQ18\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Autosomal dominant\"],\"comments\":\"unconfirmed or possibly spurious mapping\"}]}",
                "{\"mimNumber\":\"603517\",\"hgnc\":\"BCL10\",\"description\":\"B-cell leukemia/lymphoma 10\",\"phenotypes\":[{\"mimNumber\":\"616098\",\"phenotype\":\"Immunodeficiency 37\",\"mapping\":\"molecular basis of the disorder is known\",\"inheritances\":[\"Autosomal recessive\"],\"comments\":\"unconfirmed or possibly spurious mapping\"},{\"mimNumber\":\"137245\",\"phenotype\":\"Lymphoma, MALT, somatic\",\"mapping\":\"molecular basis of the disorder is known\"},{\"mimNumber\":\"605027\",\"phenotype\":\"Lymphoma, follicular, somatic\",\"mapping\":\"molecular basis of the disorder is known\",\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"},{\"mimNumber\":\"273300\",\"phenotype\":\"Male germ cell tumor, somatic\",\"mapping\":\"molecular basis of the disorder is known\",\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"},{\"mimNumber\":\"156240\",\"phenotype\":\"Mesothelioma, somatic\",\"mapping\":\"molecular basis of the disorder is known\",\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"},{\"phenotype\":\"Sezary syndrome, somatic\",\"mapping\":\"molecular basis of the disorder is known\",\"comments\":\"contribute to susceptibility to multifactorial disorders or to susceptibility to infection\"}]}"
            };
            var omimFile            = Resources.TopPath("testOmim.txt");
            var omimReader          = new OmimReader(new FileInfo(omimFile));
            var observedOmimEntries = omimReader.ToList().Select(x => x.ToString()).ToList();

            Assert.Equal(6, observedOmimEntries.Count);
            Assert.True(expectedOmimEntries.SequenceEqual(observedOmimEntries));
        }
Esempio n. 3
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        void ReadAndWriteTests()
        {
            var omimFile    = Resources.TopPath("testOmim.txt");
            var randomPath  = Path.GetTempPath();
            var omimCreater = new CreateOmimDatabase(omimFile, randomPath);

            omimCreater.Create();

            var omimDataBaseFile   = Path.Combine(randomPath, OmimDatabaseCommon.OmimDatabaseFileName);
            var omimDatabaseReader = new OmimDatabaseReader(omimDataBaseFile);

            var omimEntries = omimDatabaseReader.Read().ToList();

            var omimReader          = new OmimReader(new FileInfo(omimFile));
            var expectedOmimEntries = omimReader.ToList();

            Assert.Equal(6, expectedOmimEntries.Count);

            Assert.Equal(expectedOmimEntries.Count, omimEntries.Count);
            Assert.True(omimEntries.SequenceEqual(expectedOmimEntries));
        }