iiinova — where your digital self keeps evolving

Sam Baxter

@sambaxter.bsky.social

Reposted by Sam Baxter

Nicky Whiffin @nickywhiffin.bsky.social · 25/11/2024

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

Flyer for ReNU syndrome united detailing the mission (to unite and build community), vision (to empower families) and values (collaboration, connection, innovation, and impact).

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Sam Baxter @sambaxter.bsky.social · 26/11/2024

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

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Sam Baxter @sambaxter.bsky.social · 04/06/2024

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)

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Sam Baxter @sambaxter.bsky.social · 01/11/2023

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

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