Jonathan Pritchard

jkpritch.bsky.social

27 May 2026 01:38

Nikhil Milind's new paper tackles an intriguing paradox: Why does the genome-wide deletion load, and duplication load, tend to push most traits in the SAME direction?? Very proud of this, his first lead-author paper at Stanford!

Masahiro Kanai

masakanai.bsky.social

03 December 2025 04:10

Excited to share our new FinnGen single-nucleus multiome preprint! 🧬 We profiled ~10M PBMCs (snRNA-seq + snATAC-seq) from 1,108 Finnish donors to map how genetic variants drive complex disease through chromatin and gene regulation 🧵👇 🔗 Link: www.medrxiv.org/content/10.1...

Cedric Boeckx

cedricboeckx.bsky.social

22 October 2025 02:56

A new high-coverage #Denisovan genome, chock-full of fascinating new information. Must-read study by @stephanepeyregne.bsky.social @janetk.bsky.social and colleagues On @biorxivpreprint.bsky.social: 🧪🧬 www.biorxiv.org/content/10.1...

Chloe Slaney

chloeslaney.bsky.social

01 October 2025 12:15

Commentary by @mendelrandom.bsky.social and me on paper suggesting highly prevalent East Asian #ALDH2 null variant may magnify adverse effects of maternal alcohol use during pregnancy on child development. ▶️ onlinelibrary.wiley.com/doi/10.1111/... @uob-ieu.bsky.social @bristoluni.bsky.social

Nature Reviews Genetics

natrevgenet.nature.com

28 September 2025 08:42

New online! Advances in haplotype phasing and genotype imputation