📝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.
So excited to see you all in Melbourne next year!!!
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
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...
📣New today!
📄Landscapes of missense variant impact for human superoxide dismutase 1
🧑🤝🧑 @axakova.bsky.social @fritzroth.bsky.social & co
🚨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