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.
October 15, 2025 at 2:20 PM
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.
October 15, 2025 at 2:18 PM
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.
Reposted by Jacob Kitzman
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/job_detail/2...
Asst Professor | U-M Careers
careers.umich.edu
September 25, 2025 at 6:26 PM
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/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...
August 6, 2025 at 6:40 PM
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...
Reposted by Jacob Kitzman
🚨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
#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...
www.cell.com
July 29, 2025 at 3:31 PM
🚨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
#MAVE
Reposted by Jacob Kitzman
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
June 30, 2025 at 12:49 AM
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
Reposted by Jacob Kitzman
A group of scholars and I had a chance to share our experiences with the MOSAIC program being terminated 🧪
www.npr.org/sections/sho...
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.
www.npr.org
April 28, 2025 at 12:16 PM
A group of scholars and I had a chance to share our experiences with the MOSAIC program being terminated 🧪
www.npr.org/sections/sho...
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
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 ...
www.biorxiv.org
March 7, 2025 at 7:27 PM
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
www.biorxiv.org/content/10.1...
1/5
Reposted by Jacob Kitzman
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
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
February 23, 2025 at 3:26 PM
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
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
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
December 21, 2023 at 3:56 PM
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
November 1, 2023 at 6:53 PM
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