GREGoR Consortium

@GREGoR_research

Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.

USA gregorconsortium.org Joined October 2021

438 Following 897 Followers 1.9K Posts

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GREGoR Consortium @GREGoR_research Nov 12, 2025

New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000+ families.

🧬nature.com/articles/s4158…

GREGoR Consortium @GREGoR_research Oct 25

Today on Variant Scientists Appreciation Day 🎉 (Oct. 25) we recognize the professionals who are advancing #RareDisease #Research and helping to solve unexplained rare genetic disorders through their contributions to genomic and variant science 🧬! #CelebrateVariantScientists

GREGoR Consortium @GREGoR_research Oct 23

Friday's afternoon poster session (2:30 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG

GREGoR Consortium @GREGoR_research Oct 23

Attend Friday afternoon's #ASHG26 talk to hear Daniel Calame share his work at 2:00 pm, Session 79:

"Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Syndromic Neurodevelopmental Disorder with Skeletal Anomalies"

@DanielGCalame @BCMHouston

GREGoR Consortium @GREGoR_research Oct 22

🚨Don't miss the GREGoR Consortium's Ancillary Session at #ASHG26 on Friday, Oct 23, 12 pm, in Room 513DEF! Featuring Dr. Ben Heavner @BenHeavner.

It's not too late to register: buff.ly/ewHR4zZ. Free lunch will be provided. 200 people max.

#RareDisease #Research #ASHG