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Moderating the Broad Institute #RareDiseaseDay panel was an honor. There was so much I took away from this event but I absolutely agree with these top 3. #partnerwithpatients

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-…

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

With loss of function (LoF) variation, all may not be as it seems. Led by Moriel Singer-Berk, Sanna Gudmundsson, and Heidi Rehm, we advanced the framework, from Richards et al and Abou Tayoun et al, for using PVS1 for pLoF variants in pathogenicity classification. AJHG 1/

An inspiring piece by Tania Simoncelli 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

Years of work finally making it out to the community. Congrats to my co-authors, especially Moriel Singer-Berk, Sanna Gudmundsson Anne O'Donnell-Luria and Heidi Rehm!

#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

Gene constraint is now available on #gnomAD v4! This is the first time we have had constraint data available on GRCh38. Katherine Chao will be covering this work during her talk at #ASHG23 tomorrow (11/4) at 11am in rm 202A.

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 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

It’s genome time! nejm.org/doi/full/10.10…

Thank you to Chan Zuckerberg Initiative for the opportunity to talk about the Rare Genomes Project (raregenomes.org) and tell the story of GeniE (genie.broadinstitute.org).