Jacob Kitzman
@jacobkitzman.bsky.social
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Area Dad
reposted by
Jacob Kitzman
Human Genetics and Genomics Advances
21 days ago
🧬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
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reposted by
Jacob Kitzman
Bill Grueskin
about 1 month ago
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/...
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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
https://giftarticle.ft.com/giftarticle/actions/redeem/84291aa3-95df-46d9-b4b4-6d106d224486
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Jacob Kitzman
Shematologist, MD
about 2 months ago
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/
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reposted by
Jacob Kitzman
bioRxivpreprint
4 months 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
4 months 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
4 months 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
7 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.
7 months ago
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reposted by
Jacob Kitzman
Tony Antonellis
7 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
9 months ago
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reposted by
Jacob Kitzman
The American Journal of Human Genetics
9 months ago
🚨New from
@jacobkitzman.bsky.social
& co! đź“„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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reposted by
Jacob Kitzman
Hemry, Local Bartender
10 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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reposted by
Jacob Kitzman
adelaide tovar
about 1 year ago
A group of scholars and I had a chance to share our experiences with the MOSAIC program being terminated đź§Ş
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
about 1 year ago
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Jacob Kitzman
Tina Smith
about 1 year 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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reposted by
Jacob Kitzman
Jeremy Berg
about 1 year 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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over 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
over 2 years ago
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