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jkpritch.bsky.social
My lab at Stanford studies human population genetics and complex traits.
194 posts 7,092 followers 1,065 following
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#OnThisDay in 1856, Charles Darwin noted in his journal, "began...writing species sketch." This "sketch" would form the base of his book On the Origin of Species. 🏺 🧪

Our new contribution to the quest to find causal GWAS genes! Sam Ghatan from my lab at @nygenome.org led a systematic comparison of eQTLs and CRISPRi+scRNA-seq screens. TL;DR: they provide highly complementary insights, with ortogonal pros and cons. 🧵👇 www.biorxiv.org/content/10.1...

Save the date! ProbGen 2026 will be hosted at UC Berkeley, March 25 to March 28, 2026. Featuring keynote speakers @jkpritch.bsky.social and Sally Otto. More details soon...

I hope to see you at ProbGen 2026 on March 25th-28th! I expect a wonderful meeting as always!

Repost w/ correct link! The Dept of Human Genetics at the Univeristy of Utah is hosting a Rising Stars in Genetics & Genomics postdoc symposium. We are looking to feature postdocs doing cool science! Please self nominate or nominate an excellent postdoc! #ASHGtrainees docs.google.com/forms/d/e/1F...

We quantify the aggregation of >100,000 random protein sequences to train CANYA, a convolution-attention hybrid neural network to predict aggregation from sequence. With @bennibolo.bsky.social www.science.org/doi/10.1126/...

Remember when you first learned about genetics at school? All those fascinating examples of human traits that are each apparently determined by just a single gene? Time to check in on some of your favourites to see how they’re doing. 🧬🧵🧪 1/n

Thank you @erictopol.bsky.social and @stemcells.bsky.social for being consistent voices of data- and knowledge-based reason (which was entirely absent from the colossal vat of dire gibberish in company pronouncements and TV coverage of their "achievement").

Posting on behalf of Shamil Sunyaev: Eimear(Vice Chair) and I (Chair) are organizing the 2025 Gordon Research Conference (GRC) on Human Genetics and Genomics, which will be held on July 6-11, 2025 in beautiful University of Southern Maine, Portland, Maine.

a quick note on my paper with @jeffspence.bsky.social and @jkpritch.bsky.social on conditional frequency spectra, now out in a @genetics-gsa.bsky.social special issue: doi.org/10.1093/genetics/iyae210

I am elated to share that our manuscript describing Variant-EFFECTS, a high-throughput technology we developed to precisely and quantitatively measure the effects of CRISPR-mediated edits on gene expression, is now published at @cellpress.bsky.social: authors.elsevier.com/c/1kxgiL7PXu...

With @hybridzones.bsky.social & @jenncoughlan.bsky.social, we have been working on an update to Daven Presgraves' influential 2010 review on hybrid incompatibilities (shorturl.at/cJndf). The preprint is available here (shorturl.at/DTC48) with an updated table of almost 100 incompatibilities!

Incredibly proud that our paper on the #palaeoproteomics analysis of the Penghu mandible, led by @tsutatsuta.bsky.social and in collaboration with Chun-Hsiang Chang, Enrico Cappellini and co, is out now in @science.org! doi.org/10.1126/scie...

Ancient proteomic analysis of a mandible from Taiwan show it was from a Denisovan, a hominin lineage first discovered via genomics & with only a few fossils. Confirms prior predictions of group’s widespread occurrence, including in warmer climates. Exciting work from @fridowelker.bsky.social & co!🧪

Aneuploidy is the leading cause of pregnancy loss. In work led by @saracarioscia.bsky.social and @aabiddanda.bsky.social, we reanalyzed genetic testing data from 139,416 IVF embryos to discover variants associated with recombination phenotypes and aneuploidy risk. www.medrxiv.org/content/10.1...

My lab at hiring! - we have TWO postdoc positions (one computational, one wet lab focussed) at Yale @yaleschoolofmed.bsky.social, working closely with our group members at University of Cambridge, UK @cambridgeuni.bsky.social Please help to spread the word! Adverts with full details below ⬇️

Fascinating, really thought-provoking work by Trevor Cousins, @aylwyn-scally.bsky.social and Richard Durbin, now out in @naturegenet.bsky.social 🧪🧬 Deep ancestral structure shared by all modern humans www.nature.com/articles/s41...