Congrats to Dr Alicia Martin Alicia Martin, who is instrumental in developing statistical methods and resources for multi-ethnic studies and underrepresented populations! She is the recipient of the 2022 Sklar Innovation Award. #WCPG2022 1/2

BREAKING NEWS: The 2022 #NobelPrize in Physiology or Medicine has been awarded to Svante Pääbo “for his discoveries concerning the genomes of extinct hominins and human evolution.”

Check out new paper in Aging Cell from @MGH_CGM associate director, Alex Soukas, MD, PhD and his lab. @MGH_RI Harvard Medical School @HarvardNORC

This looks pretty neat 😎

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

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 to the Genome Aggregation Database browser - genomic constraint across the entire genome. Special thanks to Siwei Siwei Chen and many other members of the gnomAD team!

MT for Rachita Yadav ((L3, ❄️)) #ASHG22: Causal mechanism was alternative splicing of exon 32 + intron retention. TAF1 expression was reduced in patients, but not by much. TAF1 is very constrained so males really cannot tolerate losing their copy.

The CGM proudly supports all of our Genetic Counselors today on #GeneticCounsellorAwarenessDay!! The day is dedicated to raising awareness and interest about GCs and helping the public understand the critical role that they play in healthcare #GCAD2022

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

Many thanks to the entire CGM community and amazing organizers Yulia Grishchuk Lab, Alysa Doyle, Alex Soukas, MD, PhD and Piper McCabe for a fantastic day of science, activities, and social interactions at our annual retreat!

Announcing a new CGM at MGH faculty search in the area of Psychiatric Genomics and Epidemiology! The new faculty member will be appointed in MGH Psychiatry and partner with the Stanley Center at Broad Institute Apply here: redcap.partners.org/redcap/surveys…

Happy to announce this year's call for applications supporting our postdoc fellows for the NHGRI-funded MGB T32 Training Program in Precision and Genomic Medicine. cgm.massgeneral.org/training-progr…

The new Genome Aggregation Database 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!!

A perfect choice for the ASHG Leadership Award. Congrats Nancy J Cox!! #ASHG23

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

#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!!