New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬 A big step for precision medicine! www.nature.com/articles/s41...

1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :)

#PacBio announces major upcoming advances for #Revio and #Vega designed to lower genome costs, expand multiomic capabilities, and support regulated research. The SPRQ-Nx chemistry, now in beta access, delivers complete genomes for under $300 at scale. View the press release: bit.ly/4o06eyH

The Open Targets Platform autumn release is out! 🍂 We have ingested the full dataset of over 13 million enhancer-gene regulatory interactions in the human genome across 1,458 DNase-seq experiments covering 369 cell types and tissues from the ENCODE-rE2G model blog.opentargets.org/open-targets...

🧵 The summer of 2025 has been AI's "cruel summer"—wrongful deaths, dangerous therapy chatbots, medical misinformation, facial recognition failures. These aren't isolated glitches but predictable harms from systems deployed without adequate oversight. www.science.org/doi/10.1126/...

So excited about this year’s Gene Forum in Tartu being kicked off now by our keynote speaker @eimearekenny.bsky.social 🤩

Huge congrats @klehto.bsky.social on this achievement!! Her work has already enriched the @estbiobank.bsky.social and will continue to do so! 💙🖤🤍

🚨 Our parent-of-origin study is out in Nature! 🧬 Maternal and paternal alleles can have distinct — even opposite — effects on human traits, revealing a hidden layer of genetic architecture that standard GWAS miss. 🔗 www.nature.com/articles/s41... Highlights below!

📢 (on more!) New study from our team in the Journal of Translational Medicine: Polygenic and pharmacogenomic contributions to medication dosing: a real-world longitudinal biobank study 🔗 tinyurl.com/25u3a5j7 (thread below) 👇

🎉(1/4) Excited to share that our latest paper is now published! We investigated genetic factors linked to antidepressant side effects in 13,000 individuals from the @estbiobank.bsky.social , leveraging data from questionnaires and clinical notes using NLP. www.nature.com/articles/s41...

New preprint! My (now former) postdoc @kvastad.bsky.social led this integration of GWAS and spatial transcriptomics (ST) data to identify tissue structures with enrichment of disease-implicated genes = likely causal drivers of disease biology. www.biorxiv.org/content/10.1...

Our ability to predict a person's risk of heart disease keeps getting better, even among those previously considered at low risk by traditional clinical criteria @naturemedicine.bsky.social by my team @scripps.edu www.nature.com/articles/s41...

This study is a big deal. Is it going to be the one that kicks down the PRS door? Maybe. And that’s saying something. Assessment of a Polygenic Risk Score in Screening for Prostate Cancer www.nejm.org/doi/full/10....

Excited to share our recently published overview of the @estbiobank.bsky.social 🧬 We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years! www.nature.com/articles/s41...

💡Can we use real world drug purchase data to study the genetics of medication dosing? We explored this by analyzing 20 years of digital drug dispensing data linked to the @ESTbiobank which hosts 212,000 genotyped participants. 🧵 📄 doi.org/10.1101/2025...

📢 Excited to share our study in @natmedicine.bsky.social 👉 www.nature.com/articles/s41... We mapped & characterized genetic risk factors for 42 female reproductive health diagnoses. What we found & why it matters? 👇🧵

Nice roundup on CRISPR genome editing @economist.com www.economist.com/leaders/2025...

Really excited to share our next population-scale WGS work preprint. Here, we analyse three anthropometric traits in nearly 700,000 individuals (discovery UKB ~450K, replication AoU). We show, for these traits, that common and rare variant heritability is convergent www.biorxiv.org/content/10.1...

We're delighted to share our work on scrambling the human genome using prime editing, repetitive elements, and recombinases in @science.org , led by @jonaskoeppel.bsky.social , @f-raphael.bsky.social , with @proftomellis.bsky.social and George Church. www.science.org/doi/10.1126/...

🌟 Exciting news: The Leena Peltonen School of Human Genetics returns in 2025! This prestigious summer school brings together leaders in human genetics with PhD students 📅 July 27-31, 2025 📍 Wellcome Genome Campus, UK 📝 Apply by March 7 at www.lpshg.com

This is what happens when you return research results to biobank participants: ✅ The 2nd most googled “How to…?” question in Estonia 2024: “How to become a biobank participant?” ✅ "Estonian Biobank" among Top 10 search terms. Huge thanks to the entire UniTartu & EstBB teams! ✨

Today we report that an engineered skin bacterium, swabbed gently on the head of a mouse, can unleash a potent antibody response against a pathogen. Could lead to topical vaccines that are applied in a cream. @djenetbousbaine.bsky.social led the charge... @natureportfolio.bsky.social 1/55

I'm very impressed by the thorough work @holtjma.bsky.social, @meberle.bsky.social and team have done in building #StarPhase - it really checks all the boxes for reliable calling of #pharmacogenomic star alleles, even for #CYP2D6! 🙌

🚨 Our preprint on parent-of-origin effects (POEs) is out! With our novel method, we inferred the parental origin of alleles for >220,000 individuals, uncovering novel insights into genetics, evolution, and health. 👉 Read here: www.medrxiv.org/content/10.1... 👇 Highlights below!

Worth stressing that computers from across the world access EMBL-EBI 100 million times a day - sometimes for a tiny lookup, sometimes to download large amounts of public domain information about the world we live in. I am very proud to be part of the @ebi.embl.org community delivering on this

WHO just released the new principles for ethical collection and sharing of genomics data www.who.int/news/item/20...