Interested in using MAVEs for variant classification? Read our review by Abbye E. McEwen, Malvika Tejura, @shawnfayer.bsky.social, @leastarita.bsky.social & @dougfowler.bsky.social: Multiplexed assays of variant effect for clinical variant interpretation go.nature.com/3IdCfUb rdcu.be/eFmll

Show Post

Our latest paper, just out in #GenomeBiology: "GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density". @chopresearch.bsky.social @penngenetics.bsky.social genomebiology.biomedcentral.com/articles/10....

Show Post

So proud of two postdocs in the team @alextremophile.bsky.social and @ruebenadawes.bsky.social. My role here was one of 'chief cheerleader' with this work truly led by these two superstars 🤩 The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more. 🧬💻🩺

Show Post

Yesterday at lab meeting we went around the table with introductions for a new student. Of the 7 people in attendance, I was the only one born in the USA. Diversity and immigration are what make America, and Science, great, and my heart breaks watching these pillars of our greatness crumble.

Show Post

Enhancers are "just DNA" - finding all of them in the genome is hard. www.nature.com/articles/s41...

Show Post