@hggadvances.bsky.social sat with @adel-aide.bsky.social, in the latest "Inside HGG Advances" to discuss her paper, “Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.“➡️ https://bit.ly/4wVlx0o #ASHG
Inside HGGA: A Chat with Adelaide Tovar
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Adelaide Tovar to discuss her paper "Using a ...
ashg.org
🧬Online now! 📄Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 #diabetes -linked noncoding regions 🧑🤝🧑 @adel-aide.bsky.social @jacobkitzman.bsky.social & co 👉 bit.ly/4vhnLXf
Someone or someones made $580,000,000 in exquisitely well-timed oil trades that took place 15 minutes before Trump's dubiously optimistic post about the negotiations with Iran. Gift link ⤵️ giftarticle.ft.com/giftarticle/...
Traders placed $580mn in oil bets ahead of Donald Trump’s social media post on Iran talks
Thousands of Brent and WTI contracts changed hands 15 minutes before president’s message on Truth Social
giftarticle.ft.com
In today’s episode of “insurance companies are the worst” @bcbsm.bsky.social & Michigan Medicine can’t come to an agreement leaving ~70% of commercially insured Michiganders possibly out of network 7/1. Their entire goal is to make $ yet are painting a non profit hospital as the villain. 1/
High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response https://www.biorxiv.org/content/10.64898/2026.01.11.698865v1
Yes, killing peaceful protesters is a sign of tyranny. www.nbcnews.com/world/iran/t...
Trump threatens to intervene if Iran kills peaceful protesters
"We are locked and loaded and ready to go," the president said on Truth Social early Friday, after economic protests in the Islamic Republic took a sharply violent turn.
nbcnews.com
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)
Jacob Kitzman@jacobkitzman.bsky.social · last yr.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.
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...
Asst Professor | U-M Careers
careers.umich.edu
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...
Saturation mapping of MUTYH variant effects using DNA repair reporters
With widespread clinical genetic testing, variants of uncertain significance are rapidly accumulating in cancer-risk genes. We used a high-throughput assay to test every missense variant in MUTYH, a k...
cell.com
Jacob Kitzman@jacobkitzman.bsky.social · 2y agoNew 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
🚨New from @jacobkitzman.bsky.social & co! 📄Saturation mapping of MUTYH variant effects using DNA repair reporters #MAVE
Saturation mapping of MUTYH variant effects using DNA repair reporters
With widespread clinical genetic testing, variants of uncertain significance are rapidly accumulating in cancer-risk genes. We used a high-throughput assay to test every missense variant in MUTYH, a k...
cell.com
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...
As a diversity grant dies, young scientists fear it will haunt their careers
The Trump administration defunded the National Institute of Health's MOSAIC grant program, which launched the careers of scientists from diverse backgrounds.
npr.org
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
Saturation mapping of MUTYH variant effects using DNA repair reporters
Variants of uncertain significance (VUS) limit the actionability of genetic testing. A prominent example is MUTYH, a base excision repair factor associated with polyposis and colorectal cancer, which ...
biorxiv.org
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
Trump Administration Stalls Scientific Research Despite Court Ruling (Gift Article)
Using an arcane law, officials have effectively delayed funding from the National Institutes of Health, leaving medical studies in jeopardy.
nytimes.com
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