Philip's paper on SMC3 mutations in HGG Advances won the #ASHG2024 award!! 🎉.

Congrats @Philip_M_Boone on receiving the ASHG Award for Outstanding Early Career Publication! He's a clinical geneticist and Instructor in my lab studying the impact of mutations in cohesin complex genes on genome organization and a cluster of syndromes known as cohesinopathies.

#AGBTPH Kyle Fahr and team @illumina continuing to advance AI methods for variant interpretation - compelling data moving from missense and splice site variants to the challenge of the noncoding genome. Great talk!!.

Thanks to all the opening session speakers, the #AGBTPH organizing committee, my co-chairs @NHGRI_Director and @WendyKChung, and as always the #AGBT team for welcoming us to Denver. Looking forward to the rest of the week!!.

Fantastic start to #AGBTPH. Perfect lineup of Nancy Cox on heritability of lab values and biomarker studies, @jorsmo on remarkable progress in neuropsychiatric genetics and suicide prevention, @EimearEKenny fabulous studies of diversity in BioMe, and abstract speaker @LimdiNita.

Looking for ~1.2M structural variants across diverse populations 👀. Our latest @gnomad_project SV datasets are now released from exome and genome sequencing 🥳. If you are here at #ASHG23 the great @JFuBiostats will give a talk today (11/2) at 1:45pm in Rm. 202A.

A perfect choice for the @GeneticsSociety Leadership Award. Congrats @NancyGenetics!! #ASHG23.

The new @gnomad_project release is finally here - well ahead of ASHG👏🎉 . It has been a monumental effort from to bring this resource to the field. More to come on structural variants later but for now - huge congrats and thank you to all members of the amazing gnomAD team!!.

RT @CGM_MGH: Happy to announce this year's call for applications supporting our postdoc fellows for the NHGRI-funded MGB T32 Training Progr….

RT @CGM_MGH: Announcing a new @CGM_MGH faculty search in the area of Psychiatric Genomics and Epidemiology! The new faculty member will be….

RT @CGM_MGH: Many thanks to the entire CGM community and amazing organizers @GrishchukL, Alysa Doyle, @professorsoukas and Piper McCabe for….

Huge thanks to all GCs and special thanks to our amazing gnomAD scientific operations manager and council member @sambaxtercgc. #gcad2022.

RT @CGM_MGH: The CGM proudly supports all of our Genetic Counselors today on #GeneticCounsellorAwarenessDay!!. The day is dedicated to rais….

RT @ksamocha: MT for Rachita Yadav (@RYbioinfo) #ASHG22: Causal mechanism was alternative splicing of exon 32 + intron retention. TAF1 expr….

RT @HeidiRehm: OK folks, it’s time to start looking at the non-coding portion of the genome! We hope you’ll make use of our newest addition….

First ASHG talk for Lily Wang - what an awesome experience for a grad student. Congrats Lily and @ksamocha on the fabulous work!! #ASHG22.

RT @CGM_MGH: Check out new paper in @AgingCell from @MGH_CGM associate director, @professorsoukas and his lab. @MGH_RI @harvardmed @Harvard….

RT @BKleinstiver: This looks pretty neat 😎.

RT @NobelPrize: BREAKING NEWS: .The 2022 #NobelPrize in Physiology or Medicine has been awarded to Svante Pääbo “for his discoveries concer….

RT @PGCgenetics: Congrats to Dr Alicia Martin @genetisaur, who is instrumental in developing statistical methods and resources for multi-et….