And a poster today (9259W) from talented undergrad researcher Ellie Bloss. Then, on Friday, two coding MAVEs for the price of one, from amazing postdoc Seba Vishnopolska (poster 5039F)

excited to be at #ASHG25! Lab has brought a series of functional screens - talks tomorrow from postdoc Adelaide Tovar @adel-aide.bsky.social (945am) and clinical asst prof Tony Scott (215pm) showing a pair of high-throughput functional screens.

The Department of Human Genetics at the University of Michigan is looking for a new faculty colleague at the rank of Assistant Professor. Please share! careers.umich.edu/job_detail/2...

Delighted for this to be published at AJHG @ajhgnews.bsky.social ! Updates vs the preprint include new comparisons to AlphaMissense and other predictors. We hope this map will help improve clinical variant interpretation in MUTYH! #VUS #VariantEffects #ColorectalCancer www.cell.com/ajhg/fulltex...

🚨New from @jacobkitzman.bsky.social & co! 📄Saturation mapping of MUTYH variant effects using DNA repair reporters #MAVE

They don't care that republicans still get cancer and other diseases and fall on hard times and have special-needs kids. This was the deal. "We will hurt the people you hate even if it hurts you" and half the country signed up in blood

A group of scholars and I had a chance to share our experiences with the MOSAIC program being terminated 🧪 www.npr.org/sections/sho...

New preprint! Led by postdoc Shelby Hemker, we systematically test the function of every possible coding mutation in MUTYH, a colorectal cancer risk gene with a high pathogenic carrier rate (~1:50 in some ancestry groups). #VUS #VariantInterpretation www.biorxiv.org/content/10.1... 1/5

Elon, I hate to break it to you but you aren’t my boss. I answer to the people of Minnesota. But since you bring it up, I spent last week fighting to stop tax breaks for billionaires like you, paid for by defunding health care for moms and babies

New York Times article now up on Federal Register stuff. www.nytimes.com/2025/02/21/s... 1/n

Last paper from the group for 2023, now out at Genome Biology! Led by recent bioinformatics grad Cathy Smith, we used #VariantEffect maps from massively parallel splicing assays (MPSA) to test bioinformatic splicing effect predictors genomebiology.biomedcentral.com/articles/10....  1/3

So many great talks and posters to see at #ASHG23 #ASHG2023! Here are a few from my group. Thurs 11:15AM (session 23), postdoc Seba Vishnopolska will present a deep mutational scan of a key #LynchSyndrome factor PMS2. 1/5