Add annotations - Githubissues

robinandeer / puzzle

Variant caller GUI + genetic disease analysis

https://robinandeer.gitbooks.io/puzzle/content/

MIT License

22 stars 7 forks source link

Add annotations #211

Open moonso opened 8 years ago

moonso commented 8 years ago

Creating this issue to gather similar issues in one. In general we need suggestions of how to pick these from the vcf, what are the common named keys, are they often in VEP/SnpEff etc.. Feel free to edit the comments for different categories Please help out!

moonso commented 8 years ago

Inheritance

[ ] Omim inheritance(with link)

moonso commented 8 years ago

Evolutionary constraint

[ ] PhyloP
[ ] GERP
[ ] PHAST

moonso commented 8 years ago

Disease link

[ ] CLNSIG

ohofmann commented 8 years ago

We are currently generating this list for cancer samples (individual patients and cohorts). Give us a few weeks to finalise.