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exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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M-CAP #303

Closed julesjacobsen closed 5 years ago

julesjacobsen commented 5 years ago

http://bejerano.stanford.edu/mcap/

https://www.nature.com/articles/ng.3703

Method Authors' Recommended Pathogenicity threshold Misclassified known pathogenic variants
SIFT < 0.05 38%
Polyphen-2 > 0.8 31%
CADD > 20 26%
METAL-R > 0.5 27%
M-CAP > 0.025 5%
damiansm commented 5 years ago

Incorporated into db and tested now. See future ML issue for next steps