Beispiel #1
0
        private static void UpdateWittyerVariant(IWittyerSimpleVariant variant, EvaluationMode emode, bool isTruth)
        {
            var sample = variant.Sample;

            var match = emode.Equals(EvaluationMode.Default);

            variant.OverlapInfo.Sort();
            switch (sample)
            {
            case WittyerSampleInternal simple:
                UpdateWittyerVariantHelper(simple, variant, match, isTruth);
                break;

            case WittyerCopyNumberSample cnsample:
                UpdateWittyerVariantHelper(cnsample.BaseSample, variant, match, isTruth);
                break;

            case WittyerGenotypedSample gtSample:
                UpdateWittyerVariantHelper(gtSample.BaseSample, variant, match, isTruth);
                break;

            case WittyerGenotypedCopyNumberSample gtCnSample:
                UpdateWittyerVariantHelper(gtCnSample.BaseSample.BaseSample, variant, match, isTruth);
                break;

            default:
                throw new InvalidDataException(
                          "Not sure how we get here, you must have created some non-existed wittyer sample type, check with developer!");
            }
        }
Beispiel #2
0
        public static BorderDistance CreateFromVariant([NotNull] IWittyerSimpleVariant first,
                                                       [NotNull] IWittyerSimpleVariant second)
        {
            var lbl = GetDistance(first.CiPosInterval.Start, second.CiPosInterval.Start);
            var lbr = GetDistance(first.CiPosInterval.Stop, second.CiPosInterval.Stop);

            var rbl = GetDistance(first.CiEndInterval.Start, second.CiEndInterval.Start);
            var rbr = GetDistance(first.CiEndInterval.Stop, second.CiEndInterval.Stop);

            return(Create(lbl, lbr, rbl, rbr));
        }
Beispiel #3
0
        private static void UpdateWittyerVariantHelper(WittyerSampleInternal sample,
                                                       IWittyerSimpleVariant variant, bool isGenotypeMatch, bool isTruth)
        {
            var correctMatch = new [] { MatchEnum.AlleleAndGenotypeMatch }.ToList();

            if (!isGenotypeMatch)
            {
                correctMatch.Add(MatchEnum.AlleleMatch);
            }
            sample.What = variant.OverlapInfo.Select(x => x.What).ToImmutableList();
            if (variant.OverlapInfo.Count == 0)
            {
                sample.What = ImmutableList.Create(MatchEnum.Unmatched);
            }
            sample.Why = variant.OverlapInfo.Select(x => x.Why).ToImmutableList();
            sample.Wit = correctMatch.Any(sample.What.Contains)
                ? WitDecision.TruePositive
                : (isTruth ? WitDecision.FalseNegative : WitDecision.FalsePositive);
        }
Beispiel #4
0
 internal Builder AddQuery(IWittyerSimpleVariant variant)
 {
     _query = _query.Add(variant);
     return this;
 }
Beispiel #5
0
        internal void AddVariantToTrees(IWittyerSimpleVariant variant)
        {
            var tree = _trees.GetOrAdd(variant.VariantType, GenomeIntervalTree <IWittyerSimpleVariant> .Create());

            tree.Add(variant);
        }