How to detect tumor-specific splicing aberrations
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9 days ago
iraun 5.9k

Hello biostars!

Has anyone tried, or knows anything about, whether is possible to confirm aberrant splicing isoforms detected with RNA-Seq with splice donor/acceptor variants detected using WES/WGS? I can understand that having a splice variant does not necessarily imply that an aberrant isoform will arise from it, but do you know of any paper exploring this?

What I am trying to do is to avoid the risk of calling a germline splice variant, somatic. I have RNA-Seq data only from the tumor. Still, I do have WES from both tumor and normal tissue, and I would like to assess if there is a way to use normal WES data to “confirm” (to a certain extent) that the alternative splicing variant detected using tumor RNA-Seq data is actually tumor-specific.

splicing • 146 views

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