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Published 20 hours ago • verified publisher icon broadinstitute

Update ClinVar

Open mattsolo1 opened this issue 2 years ago • 2 comments

Clinical users find it useful to have the most recent version of ClinVar in the gnomAD browser. Therefore ClinVar data must be routinely downloaded, parsed, and loaded. Instructions are here. This should probably happen at a monthly frequency (?).

mattsolo1 avatar Jun 30 '22 19:06 mattsolo1

@anneodonnell can you tell us how frequently this should happen?

mattsolo1 avatar Jul 18 '22 15:07 mattsolo1

Monthly is ideal but if that's too much to ask for, then quarterly would be reasonable.

anneodonnell avatar Jul 19 '22 03:07 anneodonnell

Now blocked by an issue with local resources on the VEP step for GRCh38 variants.

Related: #984

rileyhgrant avatar Sep 21 '22 14:09 rileyhgrant

Updating of ClinVar variants pipeline is fixed thanks to help from the methods team on the VEP troubles.

Leaving this issue open until relevant changes in the code is merged, but the ClinVar variants are now referring to a September 2022 release.

rileyhgrant avatar Sep 30 '22 16:09 rileyhgrant

Monthly is ideal but if that's too much to ask for, then quarterly would be reasonable.

Relevant changes are now merged, I will put in on my schedule to update the ClinVar variants on a monthly basis.

rileyhgrant avatar Sep 30 '22 16:09 rileyhgrant