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Published 20 hours ago • verified publisher icon exomiser

PopMax filtering

Open damiansm opened this issue 7 years ago • 1 comments

Should we be using the Popmax thresholds available from GnomAD now e.g. see at http://gnomad.broadinstitute.org/variant/6-30865919-T-G

damiansm avatar Nov 22 '18 16:11 damiansm

Certainly worth looking into - will want to wait for the new Ensembl build as they will update their gnomAD data to the latest version ad we're using their combined VEP-free VCF file.

julesjacobsen avatar Dec 19 '18 12:12 julesjacobsen