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Record W4409187187 · doi:10.1038/s41467-025-58465-3

The Estonian Biobank’s journey from biobanking to personalized medicine

2025· review· en· W4409187187 on OpenAlexaff
Lili Milani, Maris Alver, Sven Laur, Sulev Reisberg, Toomas Haller, Oliver Aasmets, Erik Abner, Helene Alavere, Annely Allik, Tarmo Annilo, Krista Fischer, Robin J. Hofmeister, Georgi Hudjashov, Maarja Jõeloo, Mart Kals, Liis Karo-Astover, Silva Kasela, Anastassia Kolde, Kristi Krebs, Kertu Liis Krigul, Jaanika Kronberg, Karoliina Kruusmaa, Viktorija Kukuškina, Kadri Kõiv, Kelli Lehto, Liis Leitsalu, Sirje Lind, Laura Birgit Luitva, Kristi Läll, Kreete Lüll, Kristjan Metsalu, Mait Metspalu, René Mõttus, Mari Nelis, Tiit Nikopensius, Miriam Nurm, Margit Nõukas, Marek Oja, Elin Org, Marili Palover, Priit Palta, Vasili Pankratov, Kateryna Pantiukh, Natalia Pervjakova, Natàlia Pujol‐Gualdo, Anu Reigo, Ene Reimann, Steven Smit, Diana Rogozina, Dage Särg, Nele Taba, Harry-Anton Talvik, Maris Teder‐Laving, Neeme Tõnisson, Mariliis Vaht, Uku Vainik, Urmo Võsa, Burak Yelmen, Tõnu Esko, Raivo Kolde, Reedik Mägi, Jaak Vilo, Triin Laisk, Andres Metspalu

Bibliographic record

VenueNature Communications · 2025
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityMontreal Neurological Institute and Hospital
FundersResearch Executive AgencyHORIZON EUROPE Framework ProgrammeEesti TeadusagentuurTartu ÜlikoolEuropean Commission
KeywordsBiobankPersonalized medicineEstonianPrecision medicineGenomicsMedicineTranslational medicineData scienceBioinformaticsComputer scienceGeneticsBiologyPathologyGenome

Abstract

fetched live from OpenAlex

Large biobanks have set a new standard for research and innovation in human genomics and implementation of personalized medicine. The Estonian Biobank was founded a quarter of a century ago, and its biological specimens, clinical, health, omics, and lifestyle data have been included in over 800 publications to date. What makes the biobank unique internationally is its translational focus, with active efforts to conduct clinical studies based on genetic findings, and to explore the effects of return of results on participants. In this review, we provide an overview of the Estonian Biobank, highlight its strengths for studying the effects of genetic variation and quantitative phenotypes on health-related traits, development of methods and frameworks for bringing genomics into the clinic, and its role as a driving force for implementing personalized medicine on a national level and beyond.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.009
metaresearch head score (Gemma)0.006
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.009
Threshold uncertainty score0.046

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0090.006
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0030.005
Science and technology studies0.0010.001
Scholarly communication0.0040.003
Open science0.0010.003
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0040.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.050
GPT teacher head0.407
Teacher spread0.357 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations58
Published2025
Admission routes1
Has abstractyes

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