Пример #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);
        }
Пример #2
0
        internal static IEnumerable <IBasicMetaLine> MergeMetaLines([NotNull] this IVcfHeader truthHeader,
                                                                    [CanBeNull] string cmdLine, [NotNull] IVcfHeader queryHeader)
        {
            var truthMetaLines = truthHeader.ColumnMetaInfoLines;

            var queryMetaLines = queryHeader.ColumnMetaInfoLines;

            var altLines = MergeMetaInfoLines(truthMetaLines.AltLines, Alt, queryMetaLines.AltLines);

            var filterLines = MergeMetaInfoLines(truthMetaLines.FilterLines, Filter, queryMetaLines.FilterLines);

            var contigLines = MergeContigLines(queryMetaLines.ContigLines, truthMetaLines.ContigLines);

            var infoLines = MergeTypedMetaLines(truthMetaLines.InfoLines, Info, queryMetaLines.InfoLines);

            var sampleFormatLines =
                MergeTypedMetaLines(truthMetaLines.SampleFormatLines, SampleFormat, queryMetaLines.SampleFormatLines);

            var sampleMetaLines = MergeTypedMetaLines(truthMetaLines.SampleMetaLines, Meta, queryMetaLines.SampleMetaLines);

            var builder = VcfHeader.CreateBuilder(truthHeader.Version)
                          .AddSampleColumn(DefaultTruthSampleName).AddSampleColumn(DefaultQuerySampleName);

            truthHeader.ReferenceGenome.DoOnSuccess(r => builder.SetReference(r));

            foreach (var line in altLines.Concat(filterLines).Concat(contigLines).Concat(sampleMetaLines)
                     .Concat(GenerateWittyerLines(infoLines, sampleFormatLines, cmdLine)))
            {
                yield return(line);
            }
        }
Пример #3
0
        public void OverlapWorks_DupDel([NotNull] string truthVar, [NotNull] string queryVar, string type, bool isTp)
        {
            const string sampleName = "blah";
            var          vcfVariantParserSettings = VcfVariantParserSettings.Create(new List <string> {
                sampleName
            });
            var        baseVariant   = VcfVariant.TryParse(truthVar, vcfVariantParserSettings).GetOrThrow();
            const bool isCrossTypeOn = true;
            var        wittyerType   = WittyerType.Parse(type);
            var        inputSpecs    = InputSpec.GenerateCustomInputSpecs(!isCrossTypeOn, new[] { wittyerType }, percentDistance: PercentDistance).ToDictionary(s => s.VariantType, s => s);

            var bndSet    = new Dictionary <IGeneralBnd, IVcfVariant>();
            var errorList = new List <string>();
            var truthV    = (IMutableWittyerSimpleVariant)WittyerVcfReader.CreateVariant(baseVariant, baseVariant.Samples.First().Value, true, sampleName,
                                                                                         inputSpecs, bndSet, errorList, isCrossTypeOn);

            baseVariant = VcfVariant.TryParse(queryVar, vcfVariantParserSettings).GetOrThrow();
            var queryV = (IMutableWittyerVariant)WittyerVcfReader.CreateVariant(baseVariant, baseVariant.Samples.First().Value, false, sampleName,
                                                                                inputSpecs, bndSet, errorList, isCrossTypeOn);
            var tree = TruthForest.Create(sampleName, VcfHeader.CreateBuilder(VcfVersion.FourPointOne).Build());

            tree.AddTarget(truthV);
            OverlappingUtils.DoOverlapping(tree.VariantTrees, queryV, OverlappingUtils.IsVariantAlleleMatch, isCrossTypeOn, true);
            queryV.Finalize(WitDecision.FalsePositive, EvaluationMode.CrossTypeAndSimpleCounting, null);
            truthV.Finalize(WitDecision.FalseNegative, EvaluationMode.CrossTypeAndSimpleCounting, null);
            Assert.Equal(isTp ? WitDecision.TruePositive : WitDecision.FalsePositive, queryV.Sample.Wit);
            Assert.Equal(isTp ? WitDecision.TruePositive : WitDecision.FalseNegative, truthV.Sample.Wit);
        }
Пример #4
0
        internal static IEnumerable <string> MergedWith([NotNull] this IVcfHeader truthHeader,
                                                        [NotNull] IVcfHeader queryHeader, [NotNull] ISamplePair pair, [CanBeNull] string cmdLine)
        {
            var mergedMetaLines = truthHeader.MergeMetaLines(cmdLine, queryHeader);

            return(ToWittyBuilder()
                   .AddSampleMetaInfo(truthHeader, pair, queryHeader, mergedMetaLines)
                   .Build().ToStrings());

            VcfHeader.Builder ToWittyBuilder()
            {
                var builder = VcfHeader.CreateBuilder(truthHeader.Version)
                              .AddSampleColumn(DefaultTruthSampleName).AddSampleColumn(DefaultQuerySampleName);

                truthHeader.ReferenceGenome.DoOnSuccess(r => builder.SetReference(r));

                return(builder);
            }
        }