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Load ClinGen variant pathogenicity data #117

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andrewsu opened this issue Jun 4, 2019 · 3 comments
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Load ClinGen variant pathogenicity data #117

andrewsu opened this issue Jun 4, 2019 · 3 comments
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data loading help wanted

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@andrewsu
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andrewsu commented Jun 4, 2019

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 andrewsu mentioned this issue Jun 4, 2019
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@andrewsu
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andrewsu commented Jun 5, 2019

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

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

@andrawaag andrawaag mentioned this issue Jun 6, 2019
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Moved the issue to SuLab/scheduled-bots#37 for further developement

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