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Published 20 hours ago • verified publisher icon exomiser

Update allele frequency data to use gnomAD v4.0

Open julesjacobsen opened this issue 2 years ago • 1 comments

https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ https://gnomad.broadinstitute.org/news/2023-11-v4-structural-variants/ https://gnomad.broadinstitute.org/news/2023-11-v4-copy-number-variants/

Can also add in SpliceAI, phyloP and REVEL.

julesjacobsen avatar Nov 03 '23 12:11 julesjacobsen

Also use the updated constraint scores

julesjacobsen avatar Nov 13 '23 12:11 julesjacobsen

These are included in data release 2402_hg38

julesjacobsen avatar Apr 15 '24 15:04 julesjacobsen