After 4 years, it's rather nice to finally present our work on genetic's model trait, height, in >1.4M WES/WGS samples (826k discovery; led by Adam Locke & Goncalo Abecasis where we found (amongst many other things) 207 genes (P<1.75e-9). A thread of findings below⬇️ www.medrxiv.org/content/10.6...
Aoxing Liu
@aoxing2.bsky.social
postdoc with Mark Daly at Broad Institute & MGH - curious about (large) chromosome alterations & (deep) human pedigrees + immunity, cancer & their interplay :)
If you’re at #ESHG2026, don’t miss Yining’s talk tomorrow 11:00 (Session C03)!!! We’ve got MORE to share than at our ASHG talk last year. Mark & I can’t make it this year - but please do catch up and say hi to Yining if you’re there!!! @finngen.bsky.social @eshg.bsky.social
🧬 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...
Systematic common and rare variant association testing in 392,030 whole genomes in All of Us
Large-scale genome-wide association studies (GWAS) and rare variant association studies (RVAS) from population biobanks provide valuable resources for gene discovery in complex human traits. We presen...
medrxiv.org
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!! 🏄🏄♀️🏄♂️
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!! 🏄🏄♀️🏄♂️
labvalues.finngen.fi
Just in time for #ASHG2025, a new FinnGen public data release is live! This release features the first clinical laboratory value association results. Analyses cover 383 lab measurements (OMOPIDs) with data from ≥1,000 participants each. Access the results here: www.finngen.fi/en/access_re...
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 📖 👇
Unlocking the potential of FinnGen to advance cancer research - Nature Reviews Cancer
Large biobank projects such as FinnGen have enabled systematic searches for inherited factors that causally influence a wide range of human traits, including cancer risk and outcome. These explorations provide genetic insights for various aspects of cancer research, including improved risk prediction, enhanced biomarker and drug target discovery, and personalized medicine.
bit.ly
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
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...
Meet FinnGen at the ASHG 2025! | FinnGen
Results based on the FinnGen data are presented in almost 40 talks or posters during the 2025 Annual Meeting of the American Society of Human Genetics (ASHG) in Boston, October 14-18. We also have a b...
finngen.fi
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...
Somatic mutation and selection at population scale - Nature
A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.
nature.com
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)!! 💘
📣Online now! 📄 #PheWAS of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank @finngen.bsky.social @ukbiobank.bsky.social
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...
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...
@agacita.bsky.social & I preview: "Parental autoimmunity genetics & offspring T1D risk" www.cell.com/cell-genomic... for new #CellGenomics study: "Effects of parental autoimmune diseases on T1D in offspring can be partially explained by HLA & non-HLA polymorphisms" www.cell.com/cell-genomic...
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!!
📢 Here comes a list of papers published in April 2025, where FinnGen has been utilized and listed as a co-author. Great to see our data driving such an impactful science! Thread👇 #FinnGen #genetics
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...
Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms
Leveraging Finnish nationwide multi-generational registers and the biobanks of FinnGen, Wang, Liu, et al. investigated the effect of parental autoimmune diseases on offspring T1D. Their creative and r...
cell.com
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!! 🫶
Get a taste of the ASHG community before fall! Join us for the virtual Spring Symposium on Cancer Genetics Symposium on April 8-9! It’s a great way to connect before the meeting in Boston, plus you can earn up to 6 CME credits. Register now: learning.ashg.org/p/2025-sprin... #ASHG #HumanGenetics
Thanks @jakphd.bsky.social for the nice introduction about our trisomy work!!! 🫶🫶🫶
Nice paper showing ~1/540 people have a sex chromosome trisomy from 3 large biobanks (UKB, FinnGen, MVP) comprising 1.5 million individuals along with their phenotypic impact. www.medrxiv.org/content/10.1...