Aaron Quinlan
@aaronquinlan
All things genome mutation, software for genomic discovery. Chairperson of @UUGenetics Co-director, DELPHI Data Science Init (he/him) http://quinlanlab.org
1. Distrust your data and your result. Use controls. Visualize. Fix problems. Repeat. 2. Your code is wrong until you prove it isn’t with tests. 3. You need to understand the biology and the details of the assays. 4. Use existing tools and libraries unless they don’t meet needs.
Experienced Bioinformaticians: Comment below the one thing you'd like to tell junior Bioinformaticians. New Bioinformaticians: Read below for an awesome list of career tips.
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 🥲
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
New paper from my group and @giladevrony’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…
This is very cool work and I'm happy to see it published. Vcfexpress by @brent_p and @aaronquinlan allows building (essentially) arbitrary VCF filters expressed in lua code with parsing & eval powered by rust! academic.oup.com/bioinformatics…
The 2025 Biology of Genomes abstract deadline is this Friday, February 14th! Register here to submit your abstract: bit.ly/3QeK7p1 #BOG25🧬@tuuliel @jtung5 @aaronquinlan
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! @UofUBiochem @UUHSResearch bit.ly/3VCP5yY
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
What a thrill be surrounded by former and current research fellows, all pursuing their dreams, at @GeneticsSociety! Keep it up!! @shishenyxx @Akizulab @HarryKiv @BrEUssMartin @SchafferLab @chai_guoliang!
After lunch, check out the Therapies for Genetic Disorders session at 1:15 (Four Seasons, Ballroom 1), which features a talk from @ClementYChow on drug repurposing to treat congenital disorders of glycosylation! #ASHG24
Looking forward to seeing everyone at #ASHG24! The Dept of Human Genetics at U. of U (@UofUGenetics) 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…
The Nov. 15 deadline to apply for our faculty positions is approaching. Please share!
We are thrilled to announce two open rank faculty searches @UofUGenetics: a broad search for all areas of genetics research (utah.peopleadmin.com/postings/170913) & one focused on computational genomics faculty (utah.peopleadmin.com/postings/170449). This launches a multi-year recruiting initiative! (1/4)
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.
NEW PAPER ALERT! @HansMDalton, former @chowlab postdoc, performed a drug repurposing screen in a fly model of DPAGT1 CDG, a disorder caused by mutations in the first step of N-linked glycosylation. 1/ journals.plos.org/plosgenetics/a…
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!
so honored to be able to help find a cure!
New grant to @ClementYChow, @ChowLab, & @UofUHealth! We won't stop funding quality research until we find a treatment for SYNGAP1-Related Disorders! Thank you families, donors and sponsors! Syngap.Fund/PR30 #SRD #SYNGAP1 #CureSYNGAP1 #Autism #RareDisease #Research
Playoff baseball is amazing. It is even better when the Yankees lose in dramatic fashion. Nighty night.
Our study of human MUTYH variants and their effect on germline mutagenesis is now out in @GeneticsGSA! 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…
I’m excited to post our study of germline mutagenesis in a family affected by MUTYH-associated colorectal cancer, led by @candiceleilani and Annabel Beichman with lots of help from @shirtsbh and @jacobkitzman medrxiv.org/content/10.110…
We have multiple faculty job openings again this year in the Dept of Human Genetics @UUtah (job ad links in the thread) please share and apply and join us for some groundbreaking science in the mountain west
Who are the senior postdocs, looking for an academic job, that are thinking about gene therapy?
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…