COSMIC annotation of germline variants in the inherited pipeline

Clinical-Genomics / scout

VCF visualization interface

https://clinical-genomics.github.io/scout

BSD 3-Clause "New" or "Revised" License

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COSMIC annotation of germline variants in the inherited pipeline #2339

Open fulyataylan opened 3 years ago

fulyataylan commented 3 years ago

Hi,

It would be nice to have a link to the COSMIC database for the variants listed in the inherited analysis pipeline in Scout as it is in the somatic analysis pipeline today. Germline/mosaic variants that are also cancer hotspot mutations can lead to severe phenotypes. Thanks for your hard work!

Best regards, Fulya

dnil commented 3 years ago

Thank you @fulyataylan! Two parts to this:

[ ] enable COSMIC display on germline (Scout)
[ ] enable COSMIC annotation in eg VEP for germline, non-cancer cases (MIP - would you like a separate issue @jemten @henrikstranneheim or is this good?)