TrinityCTAT / CTAT-SPLICING

detection of cancer splicing aberrations
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KMT2A PTDs #7

Open crutching opened 1 year ago

crutching commented 1 year ago

Would this process be able to detect partial tandem duplications in KMT2A if I add to the database? For example, the breakpoint might be between somewhere on ex9 and somewhere on ex3 (you basically have an insertion of exons 3-9). I'm continuing to look through STAR/STAR-Fusion intermediate files to get a good data source for this event - I'd love an expert point of view.

brianjohnhaas commented 1 year ago

Hi,

I'm hoping the evidence will show up among the chimeric reads reported. I'm happy to help explore this with you if you can privately share your Chimeric.out.junctions file. Adding detection of these features has been on my roadmap but I haven't gotten to it just yet.

bhaas at broadinstitute dot org

all the best,

~brian

On Tue, Jan 17, 2023 at 7:32 PM jhl667 @.***> wrote:

Would this process be able to detect partial tandem duplications in KMT2A if I add to the database? For example, the breakpoint might be between somewhere on ex9 and somewhere on ex3 (you basically have an insertion of exons 3-9). I'm continuing to look through STAR/STAR-Fusion intermediate files to get a good data source for this event - I'd love an expert point of view.

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