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Failure to call well-known fusions on WES samples

Open maximus3219 opened this issue 1 year ago • 0 comments

I have performed WES on multiple dermatofibrosarcoma protuberans (DFSP) samples with known COL1A1::PDGFB fusion. However manta fails to call this translocation on all the samples. I have changed the two values 'minEdgeObservations' and 'minCandidateSpanningCount' in the manta configuration file to 2. And supply --callRegions with the targeted regions.

Is there any way to further increase the sensitivity? Also, is there anyway I can annotate the translocation with the gene names? Occasional samples have call of translocation involving t(17;22), but the genomic location seems to be falling out of COL1A1 and PDGFB gene, respectively. Not sure if they are the correct calls.....

maximus3219 avatar May 24 '23 08:05 maximus3219