WGLab / doc-ANNOVAR

Documentation for the ANNOVAR software
http://annovar.openbioinformatics.org
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Update gnomAD database to v4.1 in ANNOVAR (some issues in v4.0) #246

Open zouaghiyassine opened 1 month ago

zouaghiyassine commented 1 month ago

Hello,

I am currently using ANNOVAR and I believe it is still using the gnomAD v4.0 database. There is an issue with this version of the database where it has abnormally low AN values affecting the frequency estimate in a large number of variants specific to a dataset.

This issue has been detailed in a blog post by the gnomAD team (https://gnomad.broadinstitute.org/news/2024-04-gnomad-v4-1/ and here https://docs.google.com/document/d/1Xm5ZIhmkh7hv2qEfCDS6J2T0IUZYiXP8pNClTlNvCGQ/edit). They have recently updated the database to v4.1 to correct this issue.

However, this updated version (v4.1) is not yet available through ANNOVAR. I believe it would be beneficial for the users of ANNOVAR if the gnomAD database could be updated to the latest version (v4.1) given the impact it has on the accuracy of the data.

Thank you for your attention to this matter.