I am in absolute awe of the ReNU syndrome families who have rallied and already achieved so much in a few short months. Their drive and dedication is hugely inspiring. The big milestone of last week: official US charity registration of "ReNU syndrome United" 🎉 1/2

Genetic counselors working is rare disease - let @nickywhiffin.bsky.social know if you/your colleagues should be a part of this starter pack #genechat

This release is 6 years in the making! I am so excited to finally share GeniE, the genetic prevalence estimator, with the genetics community. By removing the need for computational expertise, GeniE makes estimating genetic prevalence more standardized and accessible  broad.io/genie (1/4)

I can't image a be a better first post on bluesky! I am so excited to have #gnomAD v4 finally launched. An open-source dataset of this scale is going make a difference for patients and families with rare disease #genechat