Aaron Quinlan (he/him)

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!

Voices: Federal funding cuts to genetic research will be devastating for years to come Proposed cuts to the National Institutes of Health and the National Science Foundation “would cause immense and largely irreversible damage to the successful American scientific enterprise,” write Jer...

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...

Hundreds Of NIH Staff Send Strong Letter Of Dissent To Their Bosses More than 300 scientists and other staff at the National Institutes of Health sent NIH Director Jay Bhattacharya an unusually strongly worded letter of dissent on Monday.

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!

A signature-agnostic test for differences between tumor mutation spectra reveals carcinogen and ancestry effects Mutational signatures contain valuable information about the mutational processes shaping cancer genomes. However, despite dozens of tools to identify signatures in cancer samples, there is not an est...

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 symposium will feature rising science stars with research programs in evolutionary genetics and genomics, functional and disease genetics, and computational genomics. This is always a fun, rewarding, and exciting event!

We invite postdocs to apply and share their research among a broad group of scientists working in broad areas of genetics and genomics.

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 Cold Spring Harbor Laboratory Meetings & Courses -- a private, non-profit institution with research programs in cancer, neuroscience, plant biology, genomics, bioinformatics.

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

Thank you, Bruce!

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci - Genome Medicine Approximately 8% of the human genome consists of repetitive elements called tandem repeats (TRs): short tandem repeats (STRs) of 1–6 bp motifs and variable number tandem repeats (VNTRs) of 7 + bp moti...

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

Eric Green is out as head of National Human Genome Research Institute The longtime director of the National Human Genome Research Institute is stepping down, as the larger NIH braces for more changes.

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

Cheers!

At NIH, ‘everyone is on edge’ as they brace for deep cuts and more centralized control As the NIH braces for cuts of up to 5,000 of its 20,000 positions, “people are scrambling and freaking out,” a researcher said.

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

Upgrade.

Neonatal fungi promote lifelong metabolic health through macrophage-dependent β cell development Loss of early-life microbial diversity is correlated with diabetes, yet mechanisms by which microbes influence disease remain elusive. We report a critical neonatal window in mice when microbiota disr...

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/...

Vcfexpress: flexible, rapid user-expressions to filter and format VCFs AbstractMotivation. Variant Call Format (VCF) files are the standard output format for various software tools that identify genetic variation from DNA sequ

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...

Nice. We are working on "bedder"...

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

Exciting. Who communicated that? Do you have a ref?

Significantly increased load of hereditary cancer–linked germline variants in infertile men AbstractSTUDY QUESTION. What is the comparative load and profile of hereditary cancer–linked germline variants in infertile compared to fertile men?SUMMARY

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

Trump halts medical research funding in apparent violation of judge’s order Health department orders NIH to hold Federal Register submissions – critical step in process for funding studies

Guardian story about Federal Register issue is up.

www.theguardian.com/us-news/2025...

Federal judge extends restraining order on Trump administration's cap on NIH indirect costs Judge Angel Kelley kept in place an order blocking the Trump administration from implementing a 15% cap on NIH indirect cost payments

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!

Biology of Genomes Cold Spring Harbor Laboratory Meetings & Courses -- a private, non-profit institution with research programs in cancer, neuroscience, plant biology, genomics, bioinformatics.

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

Poker, of course.

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