Adam Auton

@adamauton.bsky.social

Geneticist @ 23andMe

23andMe is hiring for 2 amazing roles! - Scientist, ML for Health Risk Prediction: build next-gen health prediction tools integrating genetics. - Scientist, Population Genetics: build state-of-the-art algorithms for genetic relationship & ancestry inference. Links below!

Happy to highlight new findings by Vanesa Getseva and Lin Poyraz about the sources of variation in germline mutation rates among humans: www.biorxiv.org/content/10.6... Joint work with Anastasia Stolyarova and @ipsitaagarwal.bsky.social. 1/n

A sibling study of variation in parental mutation rates

People are born with variable numbers of de novo germline mutations (DNMs), depending primarily on the ages of their parents. To explore additional causes, we developed an approach to call DNMs from nucleotide differences between siblings in genomic regions inherited identical by descent from both parents. Applying it to whole genome sequences from 28,985 sibling pairs of diverse genetic ancestries present in the UK Biobank and All of Us datasets, as well as 2,330 trios, we identified >800K autosomal DNMs and characterized mutation phenotypes in 27,645 sets of parents. We found subtle shifts in the mutation spectrum but no differences in total DNM rates among genetic ancestry groups, or between smokers and non-smokers. Testing for associations between parental mutation phenotypes and their burden of loss-of-function and deleterious missense variants in a set of 180 DNA repair and maintenance genes, we discovered that disruptions in REV1 and LIG1 increase germline mutation rates, and thus that rare mutator alleles segregate in population cohorts. ### Competing Interest Statement The authors have declared no competing interest. NIH, R35 GM083098

biorxiv.org

Delighted to share our latest research from the 23andMe Research Team, just published in @nature.com ! We looked at data from >27,000 participants to uncover how human genetics influences weight loss efficacy and side effects of GLP-1 medications like semaglutide. A short thread 🧵👇

Science Bluesky is now much better than Science Twitter is… but I still miss peak pre-pandemic Science Twitter.

Katharine Hayhoe@katharinehayhoe.com · 6mo ago

Bluesky is the new science Twitter, new study by @whysharksmatter.bsky.social and Julia Wester concludes! "Results show that for every reported professional benefit that scientists once gained from Twitter, scientists can now gain that benefit more effectively on Bluesky than on Twitter."

Fun news! @gcbias.bsky.social and I are teaching a 2-week online population genetics workshop this summer to raise money for the Center for Population Biology at UC Davis. We're trying to gauge interest -- please fill this out if you might be interested! And please share broadly!

Davis Summer Population Genomics Program

Want to learn population genetics? Please fill out this form to indicate your potential interest in a 2-week intensive online summer population genetics course taught by Jeffrey Ross-Ibarra and Graham...

docs.google.com

The field has also gained leverage from personal genomics initiatives, as in this study of ~52k adults answering “yes” to “have you been diagnosed with dyslexia?” vs >1 million responding “no”, which found 42 associated loci + high genetic overlap with directly assessed reading/language skills. 10/n

Discovery of 42 genome-wide significant loci associated with dyslexia - Nature Genetics

Genome-wide analysis of self-reported dyslexia identifies 42 associated loci, including 27 not previously associated with cognitive traits. Dyslexia shows genetic correlation with ambidexterity but no...

nature.com