I was excited to be Dept. Chair as a way to serve, grow, and improve the department I love. The first year has certainly provided ample opportunities to learn the ropes of the role!

Excited to announce our first interactive article on sandbox.bio, about genomic ranges: sandbox.bio/concepts/gen... Move & resize the ranges to see how that affects bedtools operations like merge and intersect in real time!

Perspective on the impact of cuts to research funding from Jerry Kaplan and Dana Carroll, two science giants from the University of Utah. It highlights the storied history of the fantastic Dept. of Human Genetics that I now have the privilege of leading. www.sltrib.com/opinion/comm...

Forbes: 'Hundreds Of NIH Staff Send Strong Letter Of Dissent To Their Bosses' 'In addition to Bhattacharya, the letter was sent to U.S. Health and Human Services Secretary Robert F. Kennedy Jr. and members of Congress who oversee NIH' www.forbes.com/sites/michae...

You may be excited, @mrvollger.bsky.social, but we are even more so! I can't wait to be your colleague!

If you’ve ever wondered about the statistical significance of differences among mutational signature profiles, check out our new Aggregate Mutation Spectrum Distance (AMSD) preprint co-led by Sam Hart and @alisonfeder.bsky.social with @nalcala.bsky.social www.biorxiv.org/cgi/content/...

The Department of Human Genetics at the University of Utah is sponsoring the Rising Stars in Genetics and Genomics symposium! - We are seeking nominations bu June 1. - September 18-19, 2025 - Please share with the star postdocs that you know. docs.google.com/forms/d/e/1F...

Biology of Genomes is only 18 days away. The lineup is stellar! meetings.cshl.edu/meetings.asp...

A new article from Laurel Hiatt and @hdashnow.bsky.social describing STRchive is now available at Genome Medicine. genomemedicine.biomedcentral.com/articles/10.... Check out the database resource, as STRchive "streamlines TR variant interpretation at disease-associated loci." strchive.org

Sad day for NHGRI. Eric is pure class. www.statnews.com/2025/03/17/t...

anyone have a PDF of this article? www.statnews.com/2025/03/14/n...

Upgrade.

Congrats to Charlie Murtaugh in our Dept of Human Genetics @utah.edu. His collaborative study with June Round and Zac Stephens describes how a unique neonatal gut microbiome drives development of insulin-producing β-cells. This is now online at Science! www.science.org/doi/10.1126/...

This is very cool work and I'm happy to see it published. Vcfexpress by @brent-p.bsky.social and @aaronquinlan.bsky.social allows building (essentially) arbitrary VCF filters expressed in lua code with parsing & eval powered by rust! academic.oup.com/bioinformati...

Treating people with kindness and respect is always the right choice. Especially now.

Interesting new paper on links between male infertility and increased cancer risk from Maris Laan: academic.oup.com/hropen/advan...

Guardian story about Federal Register issue is up. www.theguardian.com/us-news/2025...

BREAKING: Federal judge extends the restraining order on NIH capping indirect costs to 15% www.statnews.com/2025/02/21/t...

Abstract deadline has been extended to Feb 28!

The 2025 Biology of Genomes abstract deadline is this Friday, February 14th! Register here to submit your abstract: bit.ly/3QeK7p1 #BOG25🧬 @tuuliel.bsky.social @aaronquinlan.bsky.social

Today begins the first coding collaboration with my son!

If you’ve been directly impacted by a pause or cancellation of an NIH study session, we @forbes.com would like to talk to you

The abstract deadline for Biology of Genomes is a month away. We hope to see you there! meetings.cshl.edu/meetings.asp...

Our new paper shows the utility of Element AVITI sequencing for sequencing through poly(dT)-primed single-cell RNA-seq libraries. This ability enables direct measurement of polyadenylation sites. Fun work with former student John Chamberlin and Austin Gillen. academic.oup.com/nargab/artic...

Big love to Tiny Desk for giving Waxahatchee the spotlight. www.npr.org/2024/12/13/g...

Our UU colleague Wes Sundquist won the 2024 Breakthrough of the year! His long-term research into the structure and function of HIV’s capsid protein has led to the development lenacapavir, a game-changing new treatment that is extremely effective at preventing HIV. www.science.org/content/arti...

Ye olde grant writing sprint through the holidays returns. I have not missed you, friend.

Biology of Genomes 2025 is coming up: - meeting dates: May 6 - 10, 2025 - abstract deadline: Feb 14, 2025 We hope to see you there for another great meeting with a fantastic speaker lineup! meetings.cshl.edu/meetings.asp...

Applications open for several research positions here in Cambridge including evolutionary genetics, genomics and population genetics. www.jobs.cam.ac.uk/job/49389/

with Jason K from @aaronquinlan.bsky.social lab, I have been dusting off fraguracy, which evaluates sequencing error rates using the portion of bases from paired end reads that overlap. New release adds, among other niceties, tracking for distance to homopolymers github.com/brentp/fragu...

Our very own Mark Yandell recently became an inaugural Faculty Fellow for the Responsible AI initiative at UU. Mark's lab has been at the forefront of developing algorithms for integrating EHR data to predict phenotypic outcomes and to prioritize patients for WGS. #uuhumangenetics

@clementychow.bsky.social leads the way in repurposing drugs to treat rare disease. He recently received another foundation award to identify candidate to treat ALG8-CDG, a rare form of congenital disorders of N-linked glycosylation characterized by gastrointestinal symptoms. #uuhumangenetics

Shout out to Stephen Goldstein from the @elearlybird.bsky.social lab for his manuscript in Current Biology describing how seemingly "broken" genes in coronavirus control the activity of other viral genes. Look out for Stephen on the faculty job market this year! uofuhealth.utah.edu/newsroom/new...

Congrats to Justin Bosch from the Dept. of Human Genetics for receiving pilot funding supporting his efforts to use protein-folding algorithms to predict the impact of missense variants on hormone-receptor interactions. We are proud to have him as a colleague! uofuhealth.utah.edu/research/new...

The deadline for our two, open-rank positions in the Dept. of Human Genetics is this Friday! Please share. www.genetics.utah.edu/faculty-posi...

Our department just had its first meeting of Faculty Directors to identify areas to improve and begin developing strategies to address these areas. As a new Chair, it is a joy to work with a smart, engaged faculty committed to constantly improving as we recruit new faculty, postdocs and students.

I got @guertin.bsky.social's autograph after his seminar yesterday!

Excited to share my latest with @kelleyharris.bsky.social and @aaronquinlan.bsky.social, now out as an eLife "version of record!" We found evidence for a second germline mutator allele in a population of 🐁 RILs, adding even more complexity to the story of mutation spectrum variation in lab mice.

Builds upon the deCODE paper describing the mutagenic impact of DSBs. science.org/doi/epdf/10.... "We found that one in four sperm and one in 12 eggs in humans contains a de novo single-base substitution attributed specifically to repair of meiotic breaks."

A reminder of this faculty opening in the Dept of Human Genetics at UU. Applications are due Dec. 8. Please share!

Hi all, we just dropped version 2.31.1 of bedtools, which addresses some compilation issues encountered with GCC 13. Many thanks to John Marshall for the key patch and for the many users who reported this issue! github.com/arq5x/bedtoo...

The Dept of Human Genetics is hiring computational genomics faculty again this year! Last year we recruited Xiaoxu Yang - please apply to join him and our human, computational, developmental, and evolutionary genetics faculty. Please spread the word! utah.peopleadmin.com/postings/153...

Killer talk from Polly Fordyce on the mechanism underlying STRs modulating transcription factor binding. Cool techniques, clear delivery, and paper. www.youtube.com/watch?v=sjb6... www.science.org/doi/10.1126/...

Reposting - please share!

Do you create computational techniques to study genome biology or disease? In the 2nd year of our comp. genomics hiring initiative, @uudbmi is recruiting computational genomics faculty. Deadline=Nov. 10. Please share. utah.peopleadmin.com/postings/151...