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GA4GH 12th Plenary is next month! 🎉 You can now register for virtual participation. In-person registration ends 2 September. #joinus Register here: bit.ly/3yRSRMB

Wonderful news!!! Congrats Aaron Quinlan

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

Welcome to GA4GH 12th Plenary! This week, we are gathering to advance responsible sharing of genomic and related health data, for the benefit of human health. Learn how you can participate this week, from wherever you are located: bit.ly/4e5Hlg1

What a delight to be kicking off our inaugural OurDNA symposium in Melbourne with a keynote from Heidi Rehm discussing global collaborative networks underpinning genomic medicine. Thanks to Australian Genomics and GA4GH for making this day possible!

A wonderful meeting with so many folks dedicated to advancing genomics through collaboration and open data sharing.

Terrific #WMIF2024 panel discussion on 'Earliest Detection' chaired by James Brink, MD & D. Louis (Mass General Brigham Radiology & Pathology Enterprise Chiefs, respectively) toward ambitious primary prevention across neurologic, CV, & genetic disease

The deadline to apply for a full time faculty position in Neurogenetics at the CGM at MGH and MGH Neurology is October 15th! Send your application in to be considered.

I am pleased to announce the establishment of an African Bioinformatics Institute thanks to funding from Wellcome Trust and CZI. We seek stakeholder input to shape the ABI to meet the needs of the bioinformatics and user communities. Join us for engagement sessions to contribute.

Available today in Genetics in Medicine, a special article from ClinGen “The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation” sciencedirect.com/science/articl… (1/n)

It’s great to have these more refined allele frequencies from the African/AA population represented in gnomAD. Thank you team!!

See our paper in GIM here. If you publish on variants, PLEASE use variantvalidator.org, or even better, just submit them to ClinVar before article submission (you can request a 6 month embargo), to both validate your variant naming AND make them findable by all!

Great stuff from Anne O'Donnell-Luria and Vijay Ganesh and others!

📝The Health Data Sharing, Privacy, and Regulatory Forum — formerly known as the GDPR & International Health Data Sharing Forum — publishes Policy Briefs on emerging and relevant health data sharing policy topics. Read this month's policy brief: bit.ly/4fDhlJn

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. buff.ly/3Cpx5RL

Just started using Buffer to simultaneously post on bsky.app, LinkedIn, and X/Twitter as I make my gradual shift away from the toxic and biased world of X....

I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!

🔥 Fireside Chat happening now! We're on Zoom with Bartha Knoppers of McGill University and Gerardo Jiménez-Sánchez of Genómica Médica in conversation about Dr. Jiménez-Sánchez career and contributions to the field of genomics. Please join us! Join here: hubs.li/Q02ZlnHd0

We are delighted to announce this year's call for applications for the NHGRI-funded MGB T32 Postdoctoral Training Program in Precision and Genomic Medicine buff.ly/414Xajk Please RT or share w/ those who may be interested.

The #ClinGen expert curation ecosystem enables the global dissemination of evidence-based #genomics support resources bit.ly/3Vg9Hgj #clincalgenetics #datasharing Sharon Plon Heidi Rehm ClinGen