Would love to see you all at the talk! Try the data out at one of the above annotators today! Watch out for the preprint in a couple weeks!
#ACMGMtg25 #AllofUs #GREGoR #medicalgenetics #raredisease #collaboration #annotation #exomes #genomes #sequencing #genetics #ineedtograduate #science
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Want to hear more? I'll include this project in my talk this afternoon at #ACMG2025 🎤
🗓 Friday, March 21, 1:30 PM PST
📍 Platform Session 8: Genomic Medicine and Education
🎙 Talk: GREGoR: Accelerating Genomics for Rare Diseases

We’ve integrated the data for annotation of YOUR exomes and genomes into widely used mass annotators:
📌 ANNOVAR (Kai Wang)
📌 dbNSFP (Xiaoming Liu)
📌 Ensembl VEP (@malloryfreeberg.bsky.social; @ensembl.bsky.social; web interface coming soon!)
📌 OpenCRAVAT (@opencravat.bsky.social; Rachel Karchin)

@meandertail.bsky.social, Michael Bamshad, @sbmontgom.bsky.social, @gregor-research.bsky.social

Chia-Lin Wei, Christopher Wellington, @mwheelermd.bsky.social, GREGoR Partner Members, @claucarvalho.bsky.social, @caseygifford.bsky.social, Susanne May, @danrdanny.bsky.social, @heidirehm.bsky.social, @sedlazeck.bsky.social, Eric Vilain, @anneotation.bsky.social, @poseypod.bsky.social,

Thanks to all the authors! Ben Heavner, Marsha Wheeler, @raungar.bsky.social, @realjlo.bsky.social, @laurensvdwiel.bsky.social, Seth Berger, Jon Bernstein, @jxchong.bsky.social, Emmanuèle C. Délot, Evan Eichler, Richard Gibbs, Jim Lupski, Ali Shojaie, Mike Talkowski, @alexphd.bsky.social,

Lots of hard work from many many people to realize the goals of moving rare disease genetics forward! Much more to come from GREGoR!