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SuLab / GeneWikiCentral

GeneWiki Organization
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Load ClinGen variant pathogenicity data #117

Closed andrewsu closed 5 years ago

andrewsu commented 5 years ago

https://erepo.clinicalgenome.org/evrepo/

Currently has 684 variant annotations for 18 unique diseases

evidence breakdown:

Evidence category Count
Benign 200
Pathogenic 191
Likely Pathogenic 122
Uncertain Significance 100
Likely Benign 71
-- --
Grand Total 684
andrewsu commented 5 years ago

explicitly CC0 licensed! https://clinicalgenome.org/docs/terms-of-use/

andrawaag commented 5 years ago

first draft schema proposal: https://www.wikidata.org/wiki/EntitySchema:E63

andrawaag commented 5 years ago

Moved the issue to https://github.com/SuLab/scheduled-bots/issues/37 for further developement