Licensed Genetic Counselor @ the Broad Institute. Interested in scaling clinical genomics, data sharing, & variant curation. Opinions expressed are my own.
Joined October 2012
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Thank you to @ChanZuckerberg for the opportunity to talk about the Rare Genomes Project (raregenomes.org) and tell the story of GeniE (genie.broadinstitute.org).
The Rare Genomes Project, driven by patient communities and tech like GeniE, is turning resilience into action. Learn how: czi.co/3YUVpo3
Samantha Baxter retweeted
It’s genome time! nejm.org/doi/full/10.1056/NE…
This release is 6 years in the making! I am so excited to finally share GeniE, the genetic prevalence estimator. By removing the need for computational expertise, GeniE makes estimating genetic prevalence more standardized and accessible (1/4) broad.io/genie
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
Thank you to everyone who contributed to this project (broad.io/genie_blog_acknowle…), but especially our co-developers @ChanZuckerberg #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)
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 and @AnneOtation for their support and belief in GeniE from the very beginning!! (4/4)
Samantha Baxter retweeted
gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities:
1) Joint AN across all called sites in exomes and genomes
2) A flag indicating when exomes and genomes frequencies are highly discordant
Learn more at broad.io/gnomad_v4-1
Samantha Baxter retweeted
Today is #GeneticCounselorAwarenessDay! Genetic counselors are crucial members of our Broad community, and while we appreciate their hard work every day, today we'd like to celebrate them! You can learn more about the role our GCs play at Broad at: broad.io/GCDay2023
#gnomad v4 is finally live! 3 years of work and it’s finally here!!! Now the fun part begins. I can’t wait to dive in and see what the power of this dataset can do…well…maybe first some sleep…but then my 2nd favorite thing, kicking off some long awaited analyses #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_v4 #ASHG23 (1/11)
Samantha Baxter retweeted
With loss of function (LoF) variation, all may not be as it seems. Led by Moriel Singer-Berk, @s_gudmundsson, and @HeidiRehm, we advanced the framework, from Richards et al and Abou Tayoun et al, for using PVS1 for pLoF variants in pathogenicity classification. @AJHGNews 1/
Years of work finally making it out to the community. Congrats to my co-authors, especially Moriel Singer-Berk, @s_gudmundsson @AnneOtation and @HeidiRehm!
📢New @AJHGNews
📰Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
🧑🤝🧑@anneotation @HeidiRehm @s_gudmundsson & colleagues
👇
cell.com/ajhg/fulltext/S0002…
An inspiring piece by @TaniaSimoncelli highlighting what is able to be achieved when you put patients at the center of research! I am forever inspired by the #rareasone groups and will always be grateful for the opportunity to work with them
Centering patient communities leads to unique insights + perspectives that can only come from day-to-day knowledge of #RareDisease.
Read more from @cziscience’s @TaniaSimoncelli on how we’re supporting patient-led research
#RareAsOne bit.ly/3DO4hjh
Samantha Baxter retweeted
Meet Ryan!
"What became clear... is that not nearly enough is known about how it is that TANGO2 mutations... That is where the idea for the TANGO2 Research Foundation came from." - Mike & Kasha Morris
Read more at bit.ly/3tYIAs4 #TANGO2researchfoundation
Excited to share this publication, which includes the genetic prevalence estimates for TANGO2. Our partnership with @TANGO2Research was one of our first collaborations with @cziscience #RareAsOne community. It’s an honor to help move their mission forward authors.elsevier.com/c/1givi…
Congrats to #ChristinaMiyake , @SeemaLalani, all their coauthors, and the patients/families who made this possible.
If you work in #RareDisease please read this. Jocelyn beautifully summarizes the challenges rare families face to find a treatment/cure. While progress is happening, we need to do more. “We have the power to change the story of Rare” @CureCMT4J #genechat linkedin.com/pulse/how-can-w…
Moderating the @broadinstitute #RareDiseaseDay panel was an honor. There was so much I took away from this event but I absolutely agree with these top 3. #partnerwithpatients
I haven't had a traditional GC career, but the path I have taken is mine, & I love it. Today I am an ops manager/council member @gnomad_project, a policy co-chair @GREGoR_research, & a researcher partnering w/ patient organizations @cziscience and #IAmAGeneticCounselor (1/2)
Most of my career I didn’t feel like “a real GC”. There was some vision of the perfect GC and I didn’t meet the mark. I know there are others who question their own “GC-ness”. #GCAD2022 feels like a good day to say Don’t Listen to That Voice #YouAreAGeneticCounselor (2/2)