manta
manta copied to clipboard
Failure to call well-known fusions on WES samples
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.....