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This repository has been archived by the owner on Jul 17, 2023. It is now read-only.
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.....
The text was updated successfully, but these errors were encountered:
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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.....
The text was updated successfully, but these errors were encountered: