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
I…worked on this story for a decade…and…he just…he blurted it out on teevee.
IrishStar.com@irishstar.com · last mo.President Donald Trump admitted to insider trading during an interview with CNBC's Joe Kernen, stating that his sons, who run the Trump organization, get "inside information" from him.
Finally adopting AI to address bugs and feature requests in bedtools. Trying to address at least one a day!
New in #GENETICS: @goldmich.bsky.social, @aaronquinlan.bsky.social, and the team investigate the distribution of interruptions in coding and non-coding autosomal short tandem repeats (STRs) to determine their effects on instability and mutation rate. 🔗 buff.ly/eUNikyD
Congrats to you, @tomsasani.bsky.social ! I knew this was in your future from day one. @universityofga.bsky.social is lucky to have you!
Tom Sasani@tomsasani.bsky.social · 3mo agoExcited to announce that I'll be joining the Department of Genetics at UGA (@universityofga.bsky.social) in January! My lab will use model systems, DNA sequencing, and new computational tools to study mutation rate evolution across the tree of life.
A deserved highlight from World Malaria Day on the fantastic host parasite conflict research from @ellenleffler.bsky.social's lab!
University of Utah Health Research@uuhsresearch.bsky.social · 3mo agoMalaria is a life-threatening disease that continues to impact millions worldwide. Researchers at @uofuhealth.bsky.social are working from multiple angles to better understand, prevent, and treat it. Learn more about their work. https://bit.ly/4txuBGE
We are holding our annual Rising Stars in Genetics and Genomics Postdoc Symposium on September 24-25, 2026! Please nominate postdocs who are conducting cutting edge, creative work, and are likely to be a leader in their field. Please nominate by April 30, 2026: forms.gle/85NZaxFezUk8... (1/2)
forms.gle
We've launched a department Trainee Emergency Fund, to help support EVERYONE BELONGING IN SCIENCE by meeting urgent financial needs of students and postdocs. Click to learn more about our goal with this fund and to donate! www.givecampus.com/schools/Univ...
This link will take you to a page that’s not on LinkedIn
lnkd.in
Brent Pedersen, Mitchell Vollger and I have "posted" our preprint of the manuscript describing bedder, a complement to the functionality of bedtools. The "preprint server" we have chosen is google docs because it was rejected by biorxiv. docs.google.com/document/d/1...
bedder-manuscript.v10
Bioinformatics, 2026, 0–0 doi: 10.1093/bioinformatics/xxxxx Advance Access Publication Date: DD Month YYYY Genome Analysis Genome Analysis bedder: flexible genome interval intersection with user-defi...
docs.google.com
In collab w @hdashnow.bsky.social, we have a new preprint out on tandem repeat (TR) mutagenesis! Using HiFi sequencing, we profiled nearly 8 million TR loci across four generations of a large CEPH/Utah family and identified 1,270 de novo expansions and contractions. www.biorxiv.org/content/10.6...
biorxiv.org
We are holding our annual Rising Stars in Genetics and Genomics Postdoc Symposium on September 24-25, 2026! Please nominate postdocs who are conducting cutting edge, creative work, and are likely to be a leader in their field. Please nominate by April 30, 2026: forms.gle/85NZaxFezUk8... (1/2)
forms.gle
Giving a RIP without slides for the first time in ages today. Send good vibes.
New lab photo for the first time in too many years. I am so proud of this team's curiosity, camaraderie, and collabative energy.
Reminder that the abstract deadline for the Biology of Genomes meeting at CSHL is on Feb 13! We have a fantastic lineup of keynote speakers (Janet Kelso and Jonathan Pritchard) and session chairs. Submit your best science to this exciting and engaged meeting! meetings.cshl.edu/meetings.asp...
The 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
Pregnancy loss is common in humans, and chromosomal abnormalities are the leading cause. Using genetic data from ~140,000 IVF embryos, we show that maternal variation in meiosis genes influences recombination and aneuploidy risk. First authors: @saracarioscia.bsky.social & @aabiddanda.github.io
Common variation in meiosis genes shapes human recombination and aneuploidy - Nature
Analysis of data from pre-implantation genetic testing sheds light on the genetic basis of meiotic-origin aneuploidy, the leading cause of human pregnancy loss, identifying common genetic variants ass...
nature.com
A new preprint from Peter Mchale and Michael Goldberg in my group on the latent biases inherent to current models of non-coding constraint. www.biorxiv.org/content/10.6...
The performance of genetic-constraint metrics varies significantly across the human noncoding genome
A longstanding goal in human genetics is to prioritize noncoding loci that, when disrupted, lead to developmental disorders and other Mendelian traits. In pursuit of this goal, multiple metrics have been developed to distinguish neutrally evolving sequences from those subjected to purifying selection. These metrics are commonly evaluated genome-wide, e.g., by computing a precision-recall curve on windows tiling the entire noncoding genome. Here, we identify parts of the noncoding genome where these metrics significantly underperform relative to their genome-wide performance due to "bias" in the underlying models of neutral genetic variation and/or a low "signal-to-noise ratio" in the genetic data. The most extreme effects are found for Gnocchi (Chen et al. 2024), the performance of which declines as GC content increases. We suggest annotating constraint scores of noncoding genomic intervals with robust measures of the bias of the corresponding model, allowing users to gauge confidence in those scores. ### Competing Interest Statement The authors have declared no competing interest. National Institutes of Health, R01HG012252
biorxiv.org
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.
Jeremy Berg@jeremymberg.bsky.social · 8mo agoNew York Times article on science funding with some depressing but familiar curves with interactive graphics. www.nytimes.com/interactive/...
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. 1/n
Intro to Bedder – The Quinlan Lab
quinlanlab.org
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...
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...
sltrib.com
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...
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.com
You may be excited, @mrvollger.bsky.social, but we are even more so! I can't wait to be your colleague!
Mitchell R. Vollger@mrvollger.bsky.social · last yr.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
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...
biorxiv.org
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...
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
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
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
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...
science.org
