Estonian Biobank

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

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...

Welcome to the club! 😎

✨ 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

Seeing one of my favorite projects replicated in another big biobank from another country is an excellent start of the year!

Thank you @iakuznetsov.bsky.social and colleagues (@ukuvainik.bsky.social!) at @estbiobank.bsky.social!

The original @nathumbehav.nature.com paper: rdcu.be/eX5ID

Thread 👇🏾

Preprint with the results of genome-wide eQTL analyses across 43,301 blood samples from the eQTLGen Consortium is now online! A major collaborative effort- many thanks to everyone involved, especially @robertwarmerdam.bsky.social, @ludefranke.bsky.social, and all eQTLGen collaborators!👇

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 :)

🚨 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!

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 ...

📢 (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) 👇

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

🎉(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...

This is figure 4, which gives an overview of loci associated with the studied female reproductive health traits.

A study in Nature Medicine provides a cross-trait atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses. https://go.nature.com/3G6slSR 🔒

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...

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...

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...

💡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...

Our popular SPE-course is coming again! Boost your epidemiology & stats skills in R! Join "Statistical Practice in Epidemiology using R" at the University of Tartu, Estonia, June 2–6, 2025. More info: bendixcarstensen.com/SPE/

Pathway level metabolomics analysis identifies carbon metabolism as a key factor of incident hypertension in the Estonian Biobank Scientific Reports - Pathway level metabolomics analysis identifies carbon metabolism as a key factor of incident hypertension in the Estonian Biobank

Happy to share our recent article on metabolomics and incident hypertension in the Estonian Biobank. @kristafi.bsky.social @estbiobank.bsky.social @urmovosa.bsky.social

rdcu.be/edbUZ

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.

📢 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? 👇🧵

📣 New blog post on our recent paper on #ADHD genetic liability and health outcomes in people without diagnosed ADHD! @timespan-h2020.bsky.social @estbiobank.bsky.social

It's been a busy December, so I'm only just getting around to sharing our publication on metabolomic and genomic prediction of common diseases in 3 national biobanks. A few highlights in the 🧵! www.nature.com/articles/s41...

🌟 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

🦠 Excited to share our new collection of human gut #archaea species! 🎉
🇪🇪From @ESTbiobank, we present a dataset of 144 strains across 21 species, including 9 entirely new species!
A thread 🧵
#MAG #EstMB #TartuMicrobiome #microbiome #humangut

It is an amazing exhibition indeed! Just for clarity, data of biobank participants was not used here, it was based on publicly available data from different populations studied at our institute.

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! ✨

Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ~220,000 individuals Parent-of-origin effects (POEs) occur when the impact of a genetic variant depends on its parental origin. Traditionally linked to genomic imprinting, these effects are believed to have evolved from p...

🚨 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!

Central role of glycosylation processes in human genetic susceptibility to SARS-CoV-2 infections with Omicron variants The host genetics of SARS-CoV-2 has previously been studied based on cases from the earlier waves of the pandemic in 2020 and 2021, identifying 51 genomic loci associated with infection and/or severit...

New preprint out on genetic susceptibility to infection with Omicron variants of SARS-CoV-2. International GWAS meta-analysis discovers loci not found for earlier variants of the virus and indicates central role of glycosylation.
👇
www.medrxiv.org/content/10.1...