示例#1
0
        private static BreakEndAdjacency Flip(this BreakEndAdjacency adjacency)
        {
            var origin  = new BreakPoint(adjacency.Partner.Chromosome, adjacency.Partner.Position, !adjacency.Partner.OnReverseStrand);
            var partner = new BreakPoint(adjacency.Origin.Chromosome, adjacency.Origin.Position, !adjacency.Origin.OnReverseStrand);

            return(new BreakEndAdjacency(origin, partner));
        }
示例#2
0
        private static BreakEndAdjacency[] CreateFromDuplication(IChromosomeInterval interval)
        {
            // 1 1 . N ]1:10]N
            var origin    = new BreakPoint(interval.Chromosome, interval.End, false);
            var remote    = new BreakPoint(interval.Chromosome, interval.Start - 1, false);
            var adjacency = new BreakEndAdjacency(origin, remote);

            return(new[] { adjacency, adjacency.Flip() });
        }
示例#3
0
        private static BreakEndAdjacency[] CreateFromInversion(IChromosomeInterval interval)
        {
            // 1 10 . N N]1:20]
            // 1 11 . N [1:21[N
            var origin    = new BreakPoint(interval.Chromosome, interval.Start - 1, false);
            var remote    = new BreakPoint(interval.Chromosome, interval.End, true);
            var adjacency = new BreakEndAdjacency(origin, remote);

            var origin2    = new BreakPoint(interval.Chromosome, interval.End + 1, true);
            var remote2    = new BreakPoint(interval.Chromosome, interval.Start, false);
            var adjacency2 = new BreakEndAdjacency(origin2, remote2);

            return(new[] { adjacency, adjacency2 });
        }
        internal static void GetGeneFusionsByTranscript(this Dictionary <string, IAnnotatedGeneFusion> transcriptIdToGeneFusions,
                                                        BreakEndAdjacency adjacency, ITranscript[] originTranscripts, ITranscript[] partnerTranscripts)
        {
            var geneFusions = new List <IGeneFusion>();

            foreach (var originTranscript in originTranscripts)
            {
                geneFusions.Clear();
                bool originOnReverseStrand = originTranscript.Gene.OnReverseStrand ^ adjacency.Origin.OnReverseStrand;
                (int originIndex, ITranscriptRegion originRegion) = MappedPositionUtilities.FindRegion(originTranscript.TranscriptRegions, adjacency.Origin.Position);

                int?originExon   = originRegion.Type == TranscriptRegionType.Exon ? (int?)originRegion.Id : null;
                int?originIntron = originRegion.Type == TranscriptRegionType.Intron ? (int?)originRegion.Id : null;

                foreach (var partnerTranscript in partnerTranscripts)
                {
                    bool partnerOnReverseStrand      = partnerTranscript.Gene.OnReverseStrand ^ adjacency.Partner.OnReverseStrand;
                    bool differentStrand             = originOnReverseStrand != partnerOnReverseStrand;
                    bool differentTranscriptSource   = originTranscript.Source != partnerTranscript.Source;
                    bool sameGeneSymbol              = originTranscript.Gene.Symbol == partnerTranscript.Gene.Symbol;
                    bool codingRegionAlreadyOverlaps = originTranscript.Translation.CodingRegion.Overlaps(partnerTranscript.Translation.CodingRegion);

                    if (differentStrand || differentTranscriptSource || sameGeneSymbol || codingRegionAlreadyOverlaps)
                    {
                        continue;
                    }

                    (int partnerIndex, ITranscriptRegion partnerRegion) = MappedPositionUtilities.FindRegion(partnerTranscript.TranscriptRegions, adjacency.Partner.Position);

                    int?partnerExon   = partnerRegion.Type == TranscriptRegionType.Exon ? (int?)partnerRegion.Id : null;
                    int?partnerIntron = partnerRegion.Type == TranscriptRegionType.Intron ? (int?)partnerRegion.Id : null;

                    BreakPointTranscript origin  = new BreakPointTranscript(originTranscript, adjacency.Origin.Position, originIndex);
                    BreakPointTranscript partner = new BreakPointTranscript(partnerTranscript, adjacency.Partner.Position, partnerIndex);
                    (BreakPointTranscript first, BreakPointTranscript second) = originOnReverseStrand ? (partner, origin) : (origin, partner);

                    string hgvsCoding = GetHgvsCoding(first, second);

                    geneFusions.Add(new GeneFusion(partnerExon, partnerIntron, hgvsCoding));
                }

                if (geneFusions.Count == 0)
                {
                    continue;
                }
                var annotatedGeneFusion = new AnnotatedGeneFusion(originExon, originIntron, geneFusions.ToArray());
                transcriptIdToGeneFusions[originTranscript.Id.WithVersion] = annotatedGeneFusion;
            }
        }