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Jacob Kitzman

@jacobkitzman.bsky.social
67 followers 62 following 16 posts

Area Dad

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Reposted by Jacob Kitzman
Chris Hayes @chrislhayes.bsky.social · 07/10/2026
No AI for kids. Full stop.
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Reposted by Jacob Kitzman
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 28/05/2026
@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.“➡️ bit.ly/4wVlx0o #ASHG
ashg.org
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 ...
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Reposted by Jacob Kitzman
Human Genetics and Genomics Advances @hggadvances.bsky.social · 08/04/2026
🧬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 @bgrueskin.bsky.social · 23/03/2026
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/...
giftarticle.ft.com
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
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Reposted by Jacob Kitzman
Shematologist, MD @shematologist.medsky.social · 05/03/2026
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 @biorxivpreprint.bsky.social · 12/01/2026
High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response www.biorxiv.org/content/10.64898/20…
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Reposted by Jacob Kitzman
Chris Hayes @chrislhayes.bsky.social · 07/01/2026
Yes, killing peaceful protesters is a sign of tyranny. www.nbcnews.com/world/iran/t...
nbcnews.com
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.
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Reposted by Jacob Kitzman
Josh Marshall @joshtpm.bsky.social · 06/01/2026
The Moment We Lost The Plot talkingpointsmemo.com/news/the-mom...
talkingpointsmemo.com
The Moment We Lost The Plot
It has never been easy for me to write about January 6. ...
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Jacob Kitzman @jacobkitzman.bsky.social · 15/10/2025
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)
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Jacob Kitzman @jacobkitzman.bsky.social · 15/10/2025
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.
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Reposted by Jacob Kitzman
Tony Antonellis @sequenceman.bsky.social · 25/09/2025
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...
careers.umich.edu
Asst Professor | U-M Careers
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Jacob Kitzman @jacobkitzman.bsky.social · 06/08/2025
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...
cell.com
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...
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Reposted by Jacob Kitzman
The American Journal of Human Genetics @ajhgnews.bsky.social · 29/07/2025
🚨New from @jacobkitzman.bsky.social & co! 📄Saturation mapping of MUTYH variant effects using DNA repair reporters #MAVE
cell.com
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...
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Reposted by Jacob Kitzman
Hemry, Local Bartender @bartenderhemry.bsky.social · 30/06/2025
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 @adel-aide.bsky.social · 28/04/2025
A group of scholars and I had a chance to share our experiences with the MOSAIC program being terminated 🧪 www.npr.org/sections/sho...
npr.org
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.
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Jacob Kitzman @jacobkitzman.bsky.social · 07/03/2025
We hope this serves as a useful resource to assist with rare variant interpretation, and believe our approach can be extended to other DNA repair factors where the #VUS burden challenges the actionability of genetic testing. 5/5
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Jacob Kitzman @jacobkitzman.bsky.social · 07/03/2025
We examined individual-level clinical phenotypes of MUTYH biallelic individuals, in collaboration with a clinical lab (Ambry Genetics). Individuals with a pathogenic+missnse VUS had much higher polyposis risk -- when their VUS scored as abnormal by our assay 4/5
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Jacob Kitzman @jacobkitzman.bsky.social · 07/03/2025
Our map perfectly separates known pathogenic and benign variants from ClinVar, and based upon clinical calibration, it provides ‘strong’ evidence to resolve the >1000 standing clinical missense VUS 3/5
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Jacob Kitzman @jacobkitzman.bsky.social · 07/03/2025
To measure MUTYH variant function, we leveraged a reporter containing a mispair of 8oxoguanine w/ adenine, the substrate that MUTYH recognizes. AFAIK, this is the first MAVE coupled to a direct readout of repair at an DNA oxidative damage lesion. 2/5
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Jacob Kitzman @jacobkitzman.bsky.social · 07/03/2025
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
biorxiv.org
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 ...
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Reposted by Jacob Kitzman
Tina Smith @smith.senate.gov · 23/02/2025
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
Senator Tina Smith said: This is the ultimate dick boss move from Musk - except he isn’t even the boss, he’s just a dick.

That was in response to Musk saying “Consistent with President @realDonaldTrump's instructions, all federal employees will shortly receive an email requesting to understand what they got done last week. Failure to respond will be taken as a resignation.”

Musk responded @SenTinaSmith “What did you get done last week?”
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Reposted by Jacob Kitzman
Jeremy Berg @jeremymberg.bsky.social · 21/02/2025
New York Times article now up on Federal Register stuff. www.nytimes.com/2025/02/21/s... 1/n
nytimes.com
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.
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Jacob Kitzman @jacobkitzman.bsky.social · 21/12/2023
In short: SpliceAI and Pangolin generally performed well. Splicing effects are harder to predict in exons vs introns. Gene model annotation really matters!  We think the places where they disagree will be interesting targets for future MPSAs.  3/3
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Jacob Kitzman @jacobkitzman.bsky.social · 21/12/2023
This leverages MPSAs from our group and others. Cathy led several of these, including one published this past summer in WT1, a  transcription factor where alt splicing is disrupted in Mendelian forms of nephrotic syndrome www.kireports.org/article/S246...   2/3
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Jacob Kitzman @jacobkitzman.bsky.social · 21/12/2023
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
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Jacob Kitzman @jacobkitzman.bsky.social · 01/11/2023
Finally, also on Thursday, PB1111 from talented undergrad Kirsten Nishino (also w/ Steve Parker & Adelaide Tovar) examines how environment effects modify transcriptional response using this modular MPRA system 5/5
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Jacob Kitzman @jacobkitzman.bsky.social · 01/11/2023
On Sat, PB1089 from postdoc Adelaide Tovar (& Steve Parker lab) uses a modular MPRA to interrogate enhancer-promoter context and cell type influences on regulatory action 4/5
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Jacob Kitzman @jacobkitzman.bsky.social · 01/11/2023
Also, PB1030 from 2xDr Anthony Scott and colleagues at Ambry Genetics shows how we've calibrated another deep mutational scan of another #LynchSyndrome gene, MLH1, for use in clinical variant interpretation 3/5
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Jacob Kitzman @jacobkitzman.bsky.social · 01/11/2023
Check out these posters on Thurs too! In PB1006, we present a really cool (imho) DMS strategy from postdoc Shelby Hemker which goes beyond drug or viability selections to read out function of DNA repair factor variants 2/5
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Jacob Kitzman @jacobkitzman.bsky.social · 01/11/2023
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
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