Jacob Kitzman
@jacobkitzman.bsky.social
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Area Dad
reposted by
Jacob Kitzman
bioRxivpreprint
3 days ago
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
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Jacob Kitzman
Chris Hayes
7 days ago
Yes, killing peaceful protesters is a sign of tyranny.
www.nbcnews.com/world/iran/t...
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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.
https://www.nbcnews.com/world/iran/trump-us-intervene-iran-kills-protesters-economic-unrest-rcna251875
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Jacob Kitzman
Josh Marshall
8 days ago
The Moment We Lost The Plot
talkingpointsmemo.com/news/the-mom...
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The Moment We Lost The Plot
It has never been easy for me to write about January 6. ...
https://talkingpointsmemo.com/news/the-moment-we-lost-the-plot
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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)
add a skeleton here at some point
3 months ago
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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.
3 months ago
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Jacob Kitzman
Tony Antonellis
4 months ago
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...
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Asst Professor | U-M Careers
https://careers.umich.edu/job_detail/269023/asst-professor
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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...
add a skeleton here at some point
5 months ago
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reposted by
Jacob Kitzman
The American Journal of Human Genetics
6 months ago
🚨New from
@jacobkitzman.bsky.social
& co! 📄Saturation mapping of MUTYH variant effects using DNA repair reporters
#MAVE
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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...
https://www.cell.com/ajhg/abstract/S0002-9297(25)00275-7
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Jacob Kitzman
Hemry, Local Bartender
7 months ago
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
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Jacob Kitzman
adelaide tovar
9 months ago
A group of scholars and I had a chance to share our experiences with the MOSAIC program being terminated 🧪
www.npr.org/sections/sho...
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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.
https://www.npr.org/sections/shots-health-news/2025/04/28/nx-s1-5375917/as-a-diversity-grant-dies-young-scientists-fear-it-will-haunt-their-careers
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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...
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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 ...
https://www.biorxiv.org/content/10.1101/2025.03.01.640912v1
10 months ago
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Jacob Kitzman
Tina Smith
11 months ago
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
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Jacob Kitzman
Jeremy Berg
11 months ago
New York Times article now up on Federal Register stuff.
www.nytimes.com/2025/02/21/s...
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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.
https://www.nytimes.com/2025/02/21/science/nih-research-funding-delays.html?unlocked_article_code=1.yk4.qNQA.zVPAsVztAZ3p&smid=url-share
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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....
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about 2 years ago
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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
about 2 years ago
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