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arq5x / gemini

a lightweight db framework for exploring genetic variation.
http://gemini.readthedocs.org
MIT License
318 stars 120 forks source link

clinvar #892

Open jeffverboon opened 6 years ago

jeffverboon commented 6 years ago

Do you have code used to make the tidy clinvar file? I'd like to update this as it looks like it was last update over a year ago.

roryk commented 6 years ago

Hi Jeff,

https://github.com/arq5x/gemini/blob/master/gemini/annotation_provenance/make-clinvar.sh is a good starting point.

jeffverboon commented 6 years ago

Thanks!

pristanna commented 5 years ago

Hi, Clinvar VCF format was changed to version 2.0 and the script is not working anymore, so it is possible to use it just until Sept 2017 release. Do you plan to update it? I would really appreciate it. Thanks

brentp commented 5 years ago

it seems this script is no longer needed, you can use the clinvar releases from the 2.0 directory directly. correct?