New preprint, 'Defining and Reducing Variant Classification Disparities,' includes several BBI members & staff, plus Atlas of Variant Effects Alliance leaders. Irene Gallego Romero @[email protected] is corresponding author.
medRxiv UCSF School of Medicine BCMHouston
medrxiv.org/content/10.110…

Epic thread by Moez Dawood but this has been a long time in the works with Irene Gallego Romero @[email protected] (and many others)! tldr
There are massive disparities in genomic medicine for non-European ancestry groups. Unbiased saturation mutagenesis can potentially eliminate classification disparities!

Congrats Moez Dawood, Irene Gallego Romero @[email protected], Willow Coyote-Maestas & team, this was a lot of hard work! Honoured to be part of this group 🤩
Tl;dr: multiplexed assays of variant effects (MAVEs) can help alleviate disparities in functional classification of variants among populations. Tweetorial ⬇️

New preprint from us! You'll be shocked - shocked I tell you - to learn that there's more VUS and fewer classified variants in individuals of non-European-like genetic ancestry. And more pleasantly shocked to hear that we can fix it it! See Moez Dawood's excellent thread below: