KarchinLab / open-cravat

A modular annotation tool for genomic variants
MIT License
110 stars 27 forks source link

ACMG Plugin #277

Open zuber-bioinfo opened 1 week ago

zuber-bioinfo commented 1 week ago

Dear open-cravat team,

Please add, GeneBe plugin (ACMG score and classification) in open-cravat. VEP and MobiDetails added this plugin in their pipeline/analysis.

I think, only this is missing in open-cravat. If this is done, then nothing like this.

Thanks, Zuber

RachelKarchin commented 6 days ago

Thanks for the suggestion! We will investigate.