Germline mutations

Q&A
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1

Hello

I while ago I had corresponded with DepMap/CCLE that some cancer-relevant mutations were being filtered out due to them being flagged as potentially germline mutations.

I was told that there were plans to rescue some potentially tumorigenic mutations but I still don’t see them.

Is it not possible to release a version of the mutational data that includes all germline mutations but flags them as potentially germline?

There are many questions where we are interested in the loss of function of a gene, regardless of whether it was a germline or somatic event, so this is quite important data to omit.

Best wishes

2

Hi. We have this under consideration. It would require ensuring that dbGaP permission are not affected. Unfortunately this has been de-prioritized at the moment, as we have been grappling with several more pressing issues related to our pipelines. We will post on the website once we return to this issue again.

Germline mutations filtered and (some rescued) at different stages in our pipelines. Could you post an example of a germline you’re interested in, so that I can investigate where in the pipelines it is being filtered? -thanks