Happy #GeneticCounselorAwarenessDay! I'm so thankful for the GCs in my group - I could not do my job without all of these talented, capable and effective people who bring brilliant ideas and make the ship run!

“Until now, we thought of gene editing as a treatment we should reserve for very rare diseases where there is no other treatment,” said Dr. Daniel Skovronsky, Eli Lilly’s chief scientific and medical officer. “But if we can make gene editing safe and widely available, why not go

We are delighted to announce this year's call for applications supporting postdoctoral fellows for the NHGRI-funded MGB T32 Training Program in Precision and Genomic Medicine cgm-dev.massgeneral.org/training-progr… Please RT or share w/ those who may be interested cc Jordan Smoller

We are delighted to publish guidance for applying segregation (PP1 & BS4) and phenotype specificity (PP4) evidence to variant classification - both important approaches to implicate the variant's locus in disease. Special thanks to Les and the whole team! authors.elsevier.com/sd/article/S00…

Great to see the hard work of ClinGen’s WG on low penetrance and risk alleles out in this new publication!

Dedicated, elegant detective work from Vijay Ganesh, CHASERR lncRNA Dad, and many others to pin down the mechanism whereby loss of one copy of a non-protein-coding RNA gene causes a genetic condition.

Excited to share AllofUsResearch program’s flagship genomics paper describing 245,388 clinical-grade genome sequences encompassing >1 billion genetic variants published today in nature nature.com/articles/s4158…

Progress and call to action for advancing access to genome sequencing for individuals and families with rare genetic disorders. Via npj Journals Genomic Medicine. nature.com/articles/s4152…

Today we announce the submission to #ClinVar of >32,000 variants evaluated for the return of hereditary disease risk in the AllofUsResearch cohort. Its wonderful to return value to those who contribute their data to biomedical research! More details here: allofus.nih.gov/news-events/an…

🎉 We are excited to announce our 12th Plenary keynote speakers: - Professor Dame Sue Hill, Transforming health and care - Phillip Wilcox, University of Otago - Alex Brown, telethonkids & the Australian National University - Herawati Sudoyo, PRBM Eijkman Register and learn more: bit.ly/3wfBFQ0

Our ACMG WG will give guidance on when labs should and should not report VUS, including the use of VUS subclasses coming in the next Sequence Variant Classification guidelines. Please share your opinion on VUS reporting through our <10 min survey forms.gle/niNoAwfQmbWns7…

We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

👥 GA4GH and the Research Data Alliance (Research Data Alliance (RDA)) have agreed to a Strategic Relationship to collaborate on areas of mutual interest and promote the advancement of responsible data sharing. Read the press release: hubs.ly/Q02Gk4xr0

There is still time to register for #GA4GH12thPlenary, co-hosted by Australian Genomics. Hear from Kathryn North, Heidi Rehm, Oliver Hofmann, and @Tiffboughtwood about why you should join us! 12th Plenary registration is available here: hubs.li/Q02JsDZK0

Estimating the probability of disease for people carrying a genetic variant - known as penetrance - is empowered by large population cohorts, but *very* easy to screw up. So Caroline Wright and friends (including me) explain how to do it right.

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…