Our multi-technology, large-pedigree dataset is now available for open exploration! 🌐📊 Dive into HiFi/ONT/Strand-Seq and Element data: github.com/Platinum-Pedig… Our preprint: biorxiv.org/content/10.110…

Who are the senior postdocs, looking for an academic job, that are thinking about gene therapy?

We have multiple faculty job openings again this year in the Dept of Human Genetics University of Utah (job ad links in the thread) please share and apply and join us for some groundbreaking science in the mountain west

Our study of human MUTYH variants and their effect on germline mutagenesis is now out in Genetics Society of America! Final version includes new DNM calling methodology, plus mouse evidence that MUTYH perturbs the germline through a maternal effect on embryogenesis. academic.oup.com/genetics/advan…

Playoff baseball is amazing. It is even better when the Yankees lose in dramatic fashion. Nighty night.

The really cool thing about this paper is that the 5 middle authors were all techs, undergrads, or summer students who helped in the study. Four are now in our grad program and one is still working in the lab. Give every one credit.

so honored to be able to help find a cure!

I am starting a new video series called WAY COOL GENOMICS! Join me as I showcase examples where genomics is used in a study that is important, impactful, – and just plain WAY COOL!

The Nov. 15 deadline to apply for our faculty positions is approaching. Please share!

Looking forward to seeing everyone at #ASHG24! The Dept of Human Genetics at U. of U (U of Utah Human Genetics) team is excited to share recent advances and meet new colleagues. Also, a reminder of our faculty search that closes on Nov. 15. genetics.utah.edu/faculty-positi…

What a thrill be surrounded by former and current research fellows, all pursuing their dreams, at ⁦ASHG⁩! Keep it up!! ⁦Xiaoxu Yang⁩ ⁦Naiara Akizu⁩ ⁦Harry Keng Ioi Vong⁩ ⁦Martin Breuss⁩ ⁦SchafferLab⁩ ⁦Guoliang Chai⁩!

After lunch, check out the Therapies for Genetic Disorders session at 1:15 (Four Seasons, Ballroom 1), which features a talk from Clement Chow on drug repurposing to treat congenital disorders of glycosylation! #ASHG24

Enjoying all the tandem repeat fun at #ASHG24? The Dashnow lab is hiring software developer/data analyst roles. Apply by Nov 13 for best consideration dashnowlab.org

I am now at Aaron Quinlan.bsky.social

BIG science news!🔬 @sciencemagazine just crowned lenacapavir, a game-changing HIV prevention drug, as the top scientific achievement of the year! This was produced by our very own, Dr. Wesley Sundquist. Congrats to all involved! U of Utah Dept of Biochemistry UofUHealthResearch bit.ly/3VCP5yY

The 2025 Biology of Genomes abstract deadline is this Friday, February 14th! Register here to submit your abstract: bit.ly/3QeK7p1 #BOG25🧬Tuuli Lappalainen Jenny Tung Aaron Quinlan

This is very cool work and I'm happy to see it published. Vcfexpress by brent pedersen and Aaron Quinlan allows building (essentially) arbitrary VCF filters expressed in lua code with parsing & eval powered by rust! academic.oup.com/bioinformatics…

New paper from my group and Gilad Evrony’s! nature.com/articles/s4146… Historically we measured new mutations in humans using trio studies (parents and offspring). This taught us that on average new mutations increase in offspring with paternal age. These trio studies showed

Excited to be at fly meeting! #Dros25 🪰 Come by my poster #909F and see my talk #176. My lab is hiring! including post-docs and lab techs. utah.peopleadmin.com/postings/179824

Oof, just realized that this July is the 10 year anniversary of the release of Bioinformatics Data Skills. Writing my book was one of the most fun, difficult, and rewarding things I’ve done. Can’t believe it’s been a decade; now I feel old 🥲