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

A special thank you to Nick Watts, Riley Grant & Josephine Lee for lending their software development expertise to this tool. Finally, thank you to @heidirehm.bsky.social and @anneotation.bsky.social for their support and belief in GeniE from the very beginning!! (4/4)

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

Thank you to everyone who contributed to this project (broad.io/genie_blog_a...), but especially our co-developers Chan Zuckerberg Initiative's #RareAsOne Network. This tool was inspired by the rare disease advocacy community and I am so grateful to count you all as collaborators (3/4)

broad.io

GeniE, the Genetic Prevalence Estimator | gnomAD browser

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from...

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

Not only can users use the tool to create their own estimates, but they can also use the GeniE dashboard to browse preliminary genetic prevalence estimates, based on our standardized script, as well search for expert-curated public lists (2/4)

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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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