Happy to share that this work led by @mihkeljesse.bsky.social has now been published at PLOS Genetics! journals.plos.org/plosgenetics... A couple of thoughts below.

Ultra-fast genetic colocalisation across millions of association signals

Author summary Over 90% of human genetic variants associated with human traits and diseases lie in non-coding regions of the genome, making it difficult to interpret the mechanisms by which these vari...

journals.plos.org

@mihkeljesse.bsky.social · 12mo ago

After 1.5 years of work in @kauralasoo.bsky.social’s lab, we finally published my preprint! We introduce gpu-coloc, a GPU-accelerated implementation of coloc, show comparability to CLPP and aim to provide practical guidelines. Now accessible on BioRxiv: www.biorxiv.org/content/10.1...

A unique job opportunity to work on some of the most exciting genomic datasets in the world!

Institute for Molecular Medicine Finland (FIMM)@fimm-uh.bsky.social · 2mo ago

The Computational and Statistical Genomics Group led by @srubinacci.bsky.social at FIMM, together with @finngen.bsky.social project, is looking for a Genomics Data Analyst with skills to ensure that our WGS and WES data are harmonized & analysis-ready. Apply here: 🔗 jobs.helsinki.fi/job/Helsinki...

Huge congratulations to @mihkeljesse.bsky.social for such a well-deserved award!

European Society of Human Genetics@eshg.bsky.social · 2mo ago

#eshg2026 Best poster awards Best Poster in Basic Research: Mihkel Jesse (Tartu, Estonia) Best Poster in Clinical Research: Francesco Pintus (Turin, Italy) Look at these posters on the Virtual Conference Platform 💻️

Congratulations @jelisavetadzi.bsky.social! Lovely to see brilliant and hardworking PhD students getting such well-deserved recognition ❤️

European Society of Human Genetics@eshg.bsky.social · 2mo ago

#eshg2026 Vienna Medical Academy Award: Best presentation in translational genetic reserach/therapy of genetic diseases. Jelisaveta Džigurski (Tartu, Estonia)

🧬 Join us at the 25th International Gene Forum – with stellar speakers from around the world (again)! Register now to secure your spot! 📅 August 25–26, 2026 📍 Estonian National Museum, Tartu, Estonia 🌐 Information & registration: www.geneforum.ee #Geneforum2026 #Geneforum

📣 The ELIXIR-coordinated EU project, #B1MGplus, is conducting a survey on 💡 the use, access, governance and sustainability of #genomicdata and related services. Provide your insights to 🎯 support the development of a sustainable European genomic data infrastructure. 👉 https://loom.ly/4uSHoak

Excited to share our discovery of a new programmable RNA-guided DNA-targeting system hiding inside bacteriophages that predates CRISPR. We call it VIPR (Viral Interference Programmable Repeat), and it uses an entirely new logic to find its targets. Thread + link below.

Still wondering if inequality is out of control?

Huge thanks to @kauralasoo.bsky.social who stepped up with baby in his arms to lead the discussion of a complex JC paper picked and co-prepared with Maris. Brilliant science, collaboration, real kindness, stepping up for each other, and family first. We need more role models like this. 🫶

Our paper on detecting GWA signals from neural networks is now published. Here we propose a model- and score-agnostic post hoc framework to detect potentially associated loci from neural networks trained for phenotype prediction. academic.oup.com/nargab/artic...

Interpreting artificial neural networks to detect genome-wide association signals for complex traits

Abstract. Investigating the genetic architecture of complex diseases is challenging due to the multifactorial interplay of genomic and environmental influe

academic.oup.com

Save the date! The Long‑Read Sequencing Uppsala Meeting (#LRUA26) is happening Nov 2–4, with a great lineup of invited and selected speakers Stay tuned — registration and abstract submission will open soon🧬🖥️ lrua.se

Long-Read Sequencing Uppsala, November 2–4, 2026

#LRUA26: Empower your research with long-read sequencing technologies and connect with experts, peers, and industry leaders in Uppsala this November.

lrua.se

✨ A new star allele was born! Excited to share our first in vivo pharmacokinetic recall study involving 114 participants from @ESTbiobank with previously uncharacterised variants in CYP2C19 and CYP2D6: www.nature.com/articles/s41... #Pharmacogenomics @pharmvar.org @clinpgx.org

🧬 New preprint alert! After years of collaborative work across 52 datasets we are presenting eQTLGen phase 2: a genome-wide eQTL meta-analysis covering 43,301 blood samples: www.medrxiv.org/content/10.6... (1/8)

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...

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications

Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…

nature.com

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...

Open Targets Platform 25.09 has been released!

The September 25 release includes enhancer-gene data predicted by ENCODE-rE2G, molQTL credible sets for targets, new options for the variant structural viewer, and a number of data updates from GWAS C...

blog.opentargets.org

🧵 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/...

An ELSI for AI: Learning from genetics to govern algorithms

In the United States, the summer of 2025 will be remembered as artificial intelligence’s (AI’s) cruel summer—a season when the unheeded risks and dangers of AI became undeniably clear. Recent months h...

science.org

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! 💙🖤🤍

European Research Council (ERC)@erc.europa.eu · 11mo ago

Are adult attention deficit hyperactivity disorder (ADHD) features truly the same as childhood ADHD? Kelli Letho, a new ERC Starting Grantee at the University of Tartu will dissect the causal mechanisms of adult ADHD features More 👉 buff.ly/nci5eve #ERCStG #FontierResearch @klehto.bsky.social

🚨 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) 👇

Polygenic and pharmacogenomic contributions to medication dosing: a real-world longitudinal biobank study - Journal of Translational Medicine

Background Understanding interindividual variability in medication dosing is central to precision medicine. Despite significant pharmacogenomic (PGx) insights into key biological pathways influencing ...

translational-medicine.biomedcentral.com

🎉(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...

Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank - European Journal of Human Genetics

European Journal of Human Genetics - Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank

nature.com

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...

Spatial transcriptomics and genetically implicated genes identify putative causal tissue structures for complex traits

Spatially resolved transcriptomics is transforming our understanding of cellular and molecular diversity of tissues. Here, to identify tissue structures that are enriched for putatively causal disease...

biorxiv.org

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...

Meta-prediction of coronary artery disease risk - Nature Medicine

A meta-prediction framework integrating polygenic risk scores spanning multiple conditions and nongenetic factors, such as laboratory tests and baseline diagnoses, had superior performance in predicti...

nature.com

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...

The Estonian Biobank’s journey from biobanking to personalized medicine - Nature Communications

Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for r...

nature.com

💡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...

Investigating the genetic factors of medication dosing using biobank-linked drug purchase data

Despite significant pharmacogenomic (PGx) insights into key biological pathways influencing drug response, the polygenic contribution to dose variability and the potential of electronic health records...

doi.org

📢 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? 👇🧵

Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses - Nature Medicine

This study provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.

nature.com

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