The American Journal of Human Genetics

ajhgnews.bsky.social

26 September 2026 17:08

🥳Congratulations @nbaya.bsky.social & @itskatelawrence.bsky.social !!!

The American Journal of Human Genetics

ajhgnews.bsky.social

23 June 2026 11:18

🧬New today! 📄Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease 🧑‍🤝‍🧑 @nbaya.bsky.social @astheeggeggs.bsky.social & co

Emilie Wigdor

emiliewigdor.bsky.social

10 April 2026 19:22

📣 New preprint 🧵: we profiled post-mortem human BA22 (speech cortex) in autism across 100 donors using single-nucleus multiomics (~500,000 nuclei), integrating RNA + chromatin accessibility. Shout-out to my co-first authors Varun Suresh and Yuhan Hao: www.biorxiv.org/content/10.6...

Konrad

konradjk.bsky.social

26 March 2026 17:22

Excited to share our new preprint on gnomAD v4! We present the full analysis of 730,947 exomes — new constraint metrics, improved LoF annotation (LOFTEE-2), LLM-based literature curation, and a unified framework for gene discovery and rare disease diagnosis. www.medrxiv.org/content/10.6...

Michelle Luciano

drmluciano.bsky.social

12 January 2026 15:14

This looks really cool, but where are the brain-related phenotypes @nbaya.bsky.social? N.B. I haven't read the paper, only the abstract and this glorious figure :)