🧬 New preprint! We present an All by All analysis in All of Us: common and rare variant association testing across 392,030 whole genomes and 3,602 phenotypes. 1.337 trillion tests, ~50k significant signals, all publicly browseable. www.medrxiv.org/content/10.6...

Aoxing @aoxing2.bsky.social gave a great talk at #BoG2026 (even more considering it was last minute promoted to a talk!) on studying sex chromosome dosage thanks to available biobank data from rare but tolerated sex chromosome trisomies Builds upon doi.org/10.1016/j.aj... @cshlmeetings.bsky.social

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...

If you’re looking for highly heritable quantitative traits (beyond height!) to test your new methods, these “lab values” could be your next model traits!! We did so in our pedigree-BLUP work: we estimated family-based h2 & compared it to SNP h2 to clarify the different concepts of heritability!!

New from FinnGen!! 🚀🚀🚀 FinnGen just released GWAS summary statistics for 383 lab measurements (OMOPIDs) - each based on ≥1,000 participants!! All results are open for browsing & download: 👉 labvalues.finngen.fi. 🧬🧬🧬 Have fun!! 🏄🏄‍♀️🏄‍♂️

Comment🚨 Large biobank projects like #FinnGen help in uncovering genetic factors that influence cancer risk and outcomes, enhancing risk prediction & biomarker and drug target discovery. @finngen.bsky.social @dalygene.bsky.social @aoxing2.bsky.social#FinnGen 📖 👇

Excited (😁) to share a commentary on @finngen.bsky.social & cancer research, co-written with Mervi Aavikko & @dalygene.bsky.social!! (View-only full text -> rdcu.be/eLlJs)

Join Jesse & me for a 🌟 #ASHG2025 Featured Symposium!! "Decoding Human Aging: From Single-Cell Resolution to Population-Scale Insights" ⏰ Oct 17, 8:30-10:00 AM 🏡 258ABC, Level 2 With a fantastic ✨ speaker lineup - @albarmeira.bsky.social & Albert (Kejun) & Giulio & @austinargen.bsky.social! 2/n

Happy (😀) to invite you to our Talk/Featured Symposium/Poster/Booth at #ASHG2025!! ⏰ Oct 15, 1:30 -1:45 PM 🏡 258ABC, Level 2 I'll be giving a talk on sex chromosome trisomies (XXY, XYY, XXX) - and the surprising new biology of chromosomes X and Y!! Link: meetings.ashg.org/event/ASHG25... 1/n

We’re getting ready for an exciting week at #ASHG2025 in Boston! Come meet the FinnGen team at booth 147 - we’ll be sharing updates and showcasing new public resources and tools. Plus, don’t miss the various presentations featuring FinnGen results across the program! www.finngen.fi/en/meet-finn...

Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people www.nature.com/articles/s41...

We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. www.biorxiv.org/content/10.1... (1/n)

Our trisomy work is now online! 🚀 Got curious after reading our short PheWAS paper? 👀 Catch me 🌠 & my talk 🎤 this October at #ASHG25 in Boston! Yes, I am still endlessly curious about sex chromosome aneuploidies - whether it's somatic (X/Y loss) or germline (trisomies)!! 💘

And Figure 1 in the preview summarizes everything so nicely - way better than we authors could!! Preview: www.cell.com/cell-genomic... Original research article: www.cell.com/cell-genomic...

Wow!! Big thanks for the very lovely preview!! 🫶🫶🫶 TOO MANY analyses -> very DIFFERENT feedback on (several of) our submissions - some thought it was too lengthy, others considered the design creative, rigorous. Perhaps no need to do standard analyses if the data/question itself is not standard...

Thanks to the @finngen.bsky.social team for years of effort 🫶 in making it a unique resource for genetic discovery, and congratulations to FinnGen researchers (including us 😉) for utilizing the resources smartly!!

Hi - Excited to share our two talks at @eshg.bsky.social about @finngen.bsky.social! Because of ... I cannot join in person, but I will answer your questions online (or write to me)! 🧬 Feiyi & Zhiyu are in Milan now; discuss the BLUP work with them (if you can catch them❤️‍🔥)! Enjoy the conference!

Type 1 diabetes (T1D) and other autoimmune diseases often co-occur in families. Leveraging data from 12.6K genotyped trios in @finngen.bsky.social, our work - online today in Cell Genomics - studied the transmission of parental autoimmune diseases on T1D in offspring. www.cell.com/cell-genomic...

Join us April 8-9 for @geneticssociety.bsky.social Spring Symposium on Cancer Genetics!! 🧬 I will present our work on #mCAs & #solid_tumors in @finngen.bsky.social. Register link: learning.ashg.org/products/202... Excited to connect with you virtually months before the Boston annual meeting!! 🫶

Thanks @jakphd.bsky.social‬ for the nice introduction about our trisomy work!!! 🫶🫶🫶