Sasha Gusev

@sashagusevposts.bsky.social

Statistical geneticist. Associate Prof at Dana-Farber / Harvard Medical School. www.gusevlab.org

Recommend read! Struggling to implement code/bring your thoughts on paper is what builds topic-level expertise. Great tool for everyone already on the other side of the learning journey, but what about trainees? Would I have wanted it for myself when I started out? Not entirely sure.

Sasha Gusev@sashagusevposts.bsky.social · 2mo ago

I wrote about AI in academia. "PhD-level thinking", LLM bias, grunt work, alignment, AGI, data center water use, AI politics -- something for everyone.

I asked GPT-5.5 and Opus-4.7 to generate nonpartisan political candidate bios. Then in a new session I asked the models to help me rank candidates to vote for from the full list. GPT was 5x more likely to put a GPT-generated candidate bio in the top half.

Bild

I assigned random gender/ethnicity labels to scientific abstracts from the literature and then asked Claude to do a thematic analysis. Claude identified a clinical versus computational split for female/male authors and a DEI focus for Black/URM authors. All in completely random data.

BildBild

First real post on the new blog! If you follow human genetics, you've likely of "missing heritability". If you look at twins to estimate heritability, you get values much larger than what molecular genomic methods produce. IQ, for example, goes from 50-80% heritability to 10-15%. Which is right?

Bild

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 🧵👇