Sam Baxter
@sambaxter.bsky.social
Reposted by Sam Baxter
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" 🎉
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The big milestone of last week: official US charity registration of "ReNU syndrome United" 🎉
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November 25, 2024 at 12:13 PM
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" 🎉
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The big milestone of last week: official US charity registration of "ReNU syndrome United" 🎉
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Genetic counselors working is rare disease - let @nickywhiffin.bsky.social know if you/your colleagues should be a part of this starter pack #genechat
It has apparently only been 10 days(!), but with so many joiners it feels like a Bluesky lifetime since I created this!
Please help me make it more diverse and less dependent on my current network - looking for people that work in and mostly post about genomics of rare disease. Thank you!
🩺🖥️🧬
Please help me make it more diverse and less dependent on my current network - looking for people that work in and mostly post about genomics of rare disease. Thank you!
🩺🖥️🧬
I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics 🖥️🧬
Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged.
#ClinicalInformatics #genomics #bioinformatics 🖥️🧬
November 26, 2024 at 2:57 PM
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)
GeniE, the genetic prevalence estimator, is now available! broad.io/genie
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
June 4, 2024 at 4:46 PM
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
The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)
November 1, 2023 at 7:16 PM