Update allele frequency data to use gnomAD v4.0 - Githubissues

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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Update allele frequency data to use gnomAD v4.0 #528

Closed julesjacobsen closed 7 months ago

julesjacobsen commented 1 year ago

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 commented 1 year ago

Also use the updated constraint scores

julesjacobsen commented 7 months ago

These are included in data release 2402_hg38