It's been a long time coming but, my postdoc work characterizing thousands of variants in G6PD is now available! Many thanks to @maitreya.bsky.social @dougfowler.bsky.social @afrubin.bsky.social and their labs! www.biorxiv.org/content/10.1...
So excited to see you all in Melbourne next year!!!
📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @natrevcardiol.nature.com. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.
Interested in using functional data to understand clinical variants? Been hunting for a good review of the topic? We just wrote one! rdcu.be/exaEU
🚨In this issue🚨
A trio of papers provide key insights for integrating functional data into clinical variant interpretation
#MAVE #VUS
@dougfowler.bsky.social @clareturnbull.bsky.social @leastarita.bsky.social @gregfindlay.bsky.social @afrubin.bsky.social
📣New today!
📄Landscapes of missense variant impact for human superoxide dismutase 1
🧑🤝🧑 @axakova.bsky.social @fritzroth.bsky.social & co