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Integrate denovo-db

Open AlistairNWard opened this issue 7 years ago • 2 comments

I think it would be interesting to also show known de novo variants in a gene (http://denovo-db.gs.washington.edu/denovo-db/).

AlistairNWard avatar Aug 16 '17 13:08 AlistairNWard

http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=brca1

There is definitely some interesting information in this. For example, the link above links out to BRCA1 and shows 15 known de novo variants in BRCA1. You get info on phenotype, CADD score whether it's validated etc.

This might spur a larger question of UI. If we start to have a plethora of information on a gene or variant, would we want a separate app/screen to show all this information? We could show all denovodb variants in a gene in a manner similar to clinVar.

AlistairNWard avatar Jan 10 '18 14:01 AlistairNWard

This is a nice resource. It seems like this would integrate nicely into the Clinvar variant panel, expanding out to show variants from different sources.

tonydisera avatar Jan 26 '18 15:01 tonydisera