Aaron Quinlan (he/him)
@aaronquinlan.bsky.social
Origins and consequences of genome mutation; software for genomic discovery.
Prof. and Chair of Human Genetics at U. of Utah.
https://www.genetics.utah.edu/
http://quinlanlab.org
Prof. and Chair of Human Genetics at U. of Utah.
https://www.genetics.utah.edu/
http://quinlanlab.org
Reposted by Aaron Quinlan (he/him)
This is an important and information rich article. I wondered about the effects by Institute. The table below (which is snipped here but is in the article) has that info. Broken down by # of grants and $ amounts.
December 2, 2025 at 4:25 PM
This is an important and information rich article. I wondered about the effects by Institute. The table below (which is snipped here but is in the article) has that info. Broken down by # of grants and $ amounts.
We are thrilled to announce the first official release (v0.1.8) of #𝗯𝗲𝗱𝗱𝗲𝗿, the successor to one of our flagship tool, #𝗯𝗲𝗱𝘁𝗼𝗼𝗹𝘀! Based on ideas we conceived of long ago (!), this was achieved thanks to the dedication of Brent Pedersen.
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Intro to Bedder – The Quinlan Lab
quinlanlab.org
December 2, 2025 at 2:28 AM
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!
August 7, 2025 at 6:48 PM
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!
Reposted by Aaron Quinlan (he/him)
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!
Move & resize the ranges to see how that affects bedtools operations like merge and intersect in real time!
June 10, 2025 at 4:27 PM
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!
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...
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...
www.sltrib.com
July 8, 2025 at 5:40 PM
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...
Reposted by Aaron Quinlan (he/him)
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...
'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...
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.
www.forbes.com
June 9, 2025 at 8:04 PM
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...
'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!
Very excited to share I’ll be starting my own group at University of Utah in the Department of Human Genetics in the new year! Reach out if you are interested! vollgerlab.com
June 5, 2025 at 8:19 PM
You may be excited, @mrvollger.bsky.social, but we are even more so! I can't wait to be your colleague!
Reposted by Aaron Quinlan (he/him)
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/...
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...
www.biorxiv.org
May 20, 2025 at 4:58 PM
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...
- 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...
April 28, 2025 at 5:20 PM
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...
- 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...
meetings.cshl.edu/meetings.asp...
Biology of Genomes
Cold Spring Harbor Laboratory Meetings & Courses -- a private, non-profit institution with research programs in cancer, neuroscience, plant biology, genomics, bioinformatics.
meetings.cshl.edu
April 18, 2025 at 7:21 PM
Biology of Genomes is only 18 days away. The lineup is stellar!
meetings.cshl.edu/meetings.asp...
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
Check out the database resource, as STRchive "streamlines TR variant interpretation at disease-associated loci."
strchive.org
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...
genomemedicine.biomedcentral.com
March 26, 2025 at 7:18 PM
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
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...
www.statnews.com/2025/03/17/t...
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.
www.statnews.com
March 18, 2025 at 11:11 AM
Sad day for NHGRI. Eric is pure class.
www.statnews.com/2025/03/17/t...
www.statnews.com/2025/03/17/t...
anyone have a PDF of this article?
www.statnews.com/2025/03/14/n...
www.statnews.com/2025/03/14/n...
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.
www.statnews.com
March 16, 2025 at 3:12 PM
anyone have a PDF of this article?
www.statnews.com/2025/03/14/n...
www.statnews.com/2025/03/14/n...
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/...
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...
www.science.org
March 9, 2025 at 5:27 PM
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/...
Reposted by Aaron Quinlan (he/him)
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...
academic.oup.com/bioinformati...
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
academic.oup.com
March 6, 2025 at 3:05 PM
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...
academic.oup.com/bioinformati...
Treating people with kindness and respect is always the right choice. Especially now.
March 1, 2025 at 4:43 PM
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...
academic.oup.com/hropen/advan...
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
academic.oup.com
February 25, 2025 at 8:12 PM
Interesting new paper on links between male infertility and increased cancer risk from Maris Laan:
academic.oup.com/hropen/advan...
academic.oup.com/hropen/advan...
Reposted by Aaron Quinlan (he/him)
Reposted by Aaron Quinlan (he/him)
BREAKING: Federal judge extends the restraining order on NIH capping indirect costs to 15%
www.statnews.com/2025/02/21/t...
www.statnews.com/2025/02/21/t...
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
www.statnews.com
February 21, 2025 at 5:35 PM
BREAKING: Federal judge extends the restraining order on NIH capping indirect costs to 15%
www.statnews.com/2025/02/21/t...
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
Biology of Genomes
Cold Spring Harbor Laboratory Meetings & Courses -- a private, non-profit institution with research programs in cancer, neuroscience, plant biology, genomics, bioinformatics.
bit.ly
February 19, 2025 at 3:57 PM
Abstract deadline has been extended to Feb 28!
Reposted by Aaron Quinlan (he/him)
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
Biology of Genomes
Cold Spring Harbor Laboratory Meetings & Courses -- a private, non-profit institution with research programs in cancer, neuroscience, plant biology, genomics, bioinformatics.
bit.ly
February 11, 2025 at 5:31 PM
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!
January 28, 2025 at 12:57 AM
Today begins the first coding collaboration with my son!
Reposted by Aaron Quinlan (he/him)
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
All NIH study sections canceled indefinitely. This will halt science and devastate research budgets in universities.
January 22, 2025 at 10:59 PM
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