Exemplo n.º 1
0
        public void GenerateVcfStrings_IncludeHeaders()
        {
            if (MiscUtils.IsRunningAnyLinux)
            {
                return;                              // currently failing on linux :(
            }
            var parser         = VcfVariantParserSettings.Create(ImmutableList.Create(SampleName));
            var variants       = VcfVariant.TryParse(Bnd1, parser).FollowedBy(VcfVariant.TryParse(Bnd2, parser)).EnumerateSuccesses().ToList();
            var wittyerVariant = WittyerBndInternal.Create(variants[0],
                                                           variants[0].ToTryOfGenotypedVcfVariant(VariantNormalizer.TrimCommonBases).GetOrThrow().Samples.Values.First(),
                                                           WittyerType.IntraChromosomeBreakend, new List <uint>(), uint.MinValue, null, variants[1]);
            var headerLines = WittyerVcfWriter.GenerateVcfStrings(
                WittyerResult.Create(VcfHeader.CreateBuilder(VcfVersion.FourPointOne).Build(), SampleName,
                                     variants.Select(v => v.Contig).Distinct().ToList(), false,
                                     new Dictionary <WittyerType, IReadOnlyList <IWittyerVariant> >(),
                                     new Dictionary <WittyerType, IReadOnlyList <IWittyerBnd> >
            {
                { WittyerType.IntraChromosomeBreakend, new List <IWittyerBnd> {
                      wittyerVariant
                  } }
            }, new List <IVcfVariant>()), null, null)
                              .TakeWhile(line => line.StartsWith(VcfConstants.Header.Prefix)).ToList();

            // 11 = VcfVersion, WHO, WHAT, WHERE, WHY, WIT, WIN, WOW, date, version, column names
            Assert.Equal(11, headerLines.Count);
        }
Exemplo n.º 2
0
        public void CnvWorksWithCrossType()
        {
            if (MiscUtils.IsRunningAnyLinux)
            {
                return;                              // currently failing on linux :(
            }
            var outputDirectory = Path.GetRandomFileName().ToDirectoryInfo();
            var wittyerSettings = WittyerSettings.Create(outputDirectory, CnvTruth, CnvQuery,
                                                         ImmutableList <ISamplePair> .Empty, EvaluationMode.CrossTypeAndSimpleCounting, InputSpecs);

            var results = MainLauncher.GenerateResults(wittyerSettings).EnumerateSuccesses().ToList();

            var(_, query, truth) = results.First();
            var testStrings = WittyerVcfWriter.GenerateVcfStrings(query, null, null).Where(line => !line.StartsWith(VcfConstants.Header.Prefix));

            MultiAssert.True(testStrings.All(s => ParseVariantGetTag(s, WitDecision.FalsePositive)));
            testStrings = WittyerVcfWriter.GenerateVcfStrings(null, truth, null).Where(line => !line.StartsWith(VcfConstants.Header.Prefix));
            MultiAssert.True(testStrings.All(s => ParseVariantGetTag(s, WitDecision.FalseNegative)));


            var stats = MainLauncher
                        .GenerateJson(wittyerSettings, results,
                                      EmptyCmd).GetOrThrow().PerSampleStats.First();

            // make sure to check for null
            MultiAssert.True(stats.QuerySampleName != null);
            MultiAssert.True(stats.TruthSampleName != null);
            var expectedStats = JsonConvert.DeserializeObject <GeneralStats>(File.ReadAllText(CnvJsonCts.FullName))
                                .PerSampleStats.First();

            var expectedOverallEventStats = expectedStats.OverallStats.Single(x => x.StatsType.Equals(StatsType.Event));
            var actualOverallEventStats   = stats.OverallStats.Single(x => x.StatsType.Equals(StatsType.Event));

            MultiAssert.Equal(expectedOverallEventStats.QueryFpCount, actualOverallEventStats.QueryFpCount);
            MultiAssert.Equal(expectedOverallEventStats.QueryTpCount, actualOverallEventStats.QueryTpCount);
            MultiAssert.Equal(expectedOverallEventStats.QueryTotalCount, actualOverallEventStats.QueryTotalCount);
            MultiAssert.Equal(expectedOverallEventStats.TruthTpCount, actualOverallEventStats.TruthTpCount);
            MultiAssert.Equal(expectedOverallEventStats.TruthFnCount, actualOverallEventStats.TruthFnCount);
            MultiAssert.Equal(expectedOverallEventStats.TruthTotalCount, actualOverallEventStats.TruthTotalCount);

            MultiAssert.AssertAll();
        }
Exemplo n.º 3
0
        public void SvWorksWithSimpleCount()
        {
            if (MiscUtils.IsRunningAnyLinux)
            {
                return;                              // currently failing on linux :(
            }
            //var insertionSpec = InputSpecs[WittyerVariantType.Insertion];
            var insertionSpec = InputSpec.Create(WittyerType.Insertion,
                                                 WittyerConstants.DefaultBins.SetItem(0, (50, false)),
                                                 WittyerConstants.DefaultBpOverlap, 0.05, WittyerConstants.DefaultExcludeFilters,
                                                 WittyerConstants.DefaultIncludeFilters, null);
            var outputDirectory = Path.GetRandomFileName().ToDirectoryInfo();
            var wittyerSettings = WittyerSettings.Create(outputDirectory, SomaticTruth,
                                                         SomaticQuery, ImmutableList <ISamplePair> .Empty, EvaluationMode.SimpleCounting,
                                                         InputSpecs.SetItem(WittyerType.Insertion, insertionSpec));

            var results = MainLauncher.GenerateResults(wittyerSettings).Select(i => i.GetOrThrow()).ToList();

            var(_, query, truth) = results.First();

            MultiAssert.Equal(((IMutableWittyerResult)query).NumEntries,
                              (uint)WittyerVcfWriter.ProcessVariants(query, false).Count());
            MultiAssert.Equal(((IMutableWittyerResult)truth).NumEntries,
                              (uint)WittyerVcfWriter.ProcessVariants(truth, true).Count());

            var testStrings = WittyerVcfWriter.GenerateVcfStrings(query, null, null).Where(line => !line.StartsWith(VcfConstants.Header.Prefix));

            MultiAssert.True(testStrings.All(s => ParseVariantGetTag(s, WitDecision.FalsePositive)));
            testStrings = WittyerVcfWriter.GenerateVcfStrings(null, truth, null).Where(line => !line.StartsWith(VcfConstants.Header.Prefix));
            MultiAssert.True(testStrings.All(s => ParseVariantGetTag(s, WitDecision.FalseNegative)));

            var actualStats = GeneralStats.Create(results,
                                                  wittyerSettings.Mode == EvaluationMode.Default, wittyerSettings.InputSpecs, EmptyCmd).PerSampleStats
                              .First();
            var expectedStats = JsonConvert.DeserializeObject <GeneralStats>(File.ReadAllText(SvJsonSc.FullName))
                                .PerSampleStats.First();

            var expectedOverallEventStats = expectedStats.OverallStats.Single(x => x.StatsType.Equals(StatsType.Event));
            var actualOverallEventStats   = actualStats.OverallStats.Single(x => x.StatsType.Equals(StatsType.Event));

            MultiAssert.Equal(expectedOverallEventStats.QueryFpCount, actualOverallEventStats.QueryFpCount);
            MultiAssert.Equal(expectedOverallEventStats.QueryTpCount, actualOverallEventStats.QueryTpCount);
            MultiAssert.Equal(expectedOverallEventStats.QueryTotalCount, actualOverallEventStats.QueryTotalCount);
            MultiAssert.Equal(expectedOverallEventStats.TruthTpCount, actualOverallEventStats.TruthTpCount);
            MultiAssert.Equal(expectedOverallEventStats.TruthFnCount, actualOverallEventStats.TruthFnCount);
            MultiAssert.Equal(expectedOverallEventStats.TruthTotalCount, actualOverallEventStats.TruthTotalCount);

            var expectedInsertionStats = expectedStats.DetailedStats
                                         .Single(s => s.VariantType == WittyerType.Insertion.Name).PerBinStats;
            var actualInsertionStats = actualStats.DetailedStats
                                       .Single(s => s.VariantType == WittyerType.Insertion.Name).PerBinStats;

            foreach (var(expectedInsBinStat, actualInsBinStat) in expectedInsertionStats.Zip(actualInsertionStats,
                                                                                             (a, b) => (a, b)))
            {
                var expectedSingleStat = expectedInsBinStat.Stats.Single();
                var actualSingleStat   = actualInsBinStat.Stats.Single();
                if (!expectedSingleStat.Equals(actualSingleStat))
                {
                    MultiAssert.Equal(string.Empty, expectedInsBinStat.Bin);
                }
                MultiAssert.Equal(expectedSingleStat, actualSingleStat);
            }

            MultiAssert.AssertAll();
        }