gnomad-browser icon indicating copy to clipboard operation
gnomad-browser copied to clipboard

Variant display pages claims to just be showing Exome data but is showing Exome plus Genome data

Open congenica-peter-fox opened this issue 7 months ago • 3 comments

What you did:

I looked at the GnomAD 4.1 data for variant chr2:79195912-G-T

https://gnomad.broadinstitute.org/variant/2-79195912-G-T?dataset=gnomad_r4

What happened:

The foot of the Genetic Ancestry Group Frequencies table indicate that just exome data was being viewed

Screenshot 2024-06-28 at 15 00 02

However the total allele count from the Genetic Ancestry Group Frequencies table matches the allele count for the Exomes PLUS Genomes. Comparing the AN values with running a test sample through hail and the published GnomAD 4.1 data the allele counts do match the counts for just exomes.

congenica-peter-fox avatar Jun 28 '24 14:06 congenica-peter-fox