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The Estonian Biobank’s journey from biobanking to personalized medicine

Author

Listed:
  • Lili Milani

    (University of Tartu
    University of Tartu)

  • Maris Alver

    (University of Tartu)

  • Sven Laur

    (University of Tartu
    STACC)

  • Sulev Reisberg

    (University of Tartu
    STACC)

  • Toomas Haller

    (University of Tartu)

  • Oliver Aasmets

    (University of Tartu)

  • Erik Abner

    (University of Tartu)

  • Helene Alavere

    (University of Tartu)

  • Annely Allik

    (University of Tartu)

  • Tarmo Annilo

    (University of Tartu)

  • Krista Fischer

    (University of Tartu
    University of Tartu)

  • Robin Hofmeister

    (University of Tartu
    University of Lausanne)

  • Georgi Hudjashov

    (University of Tartu
    University of Tartu)

  • Maarja Jõeloo

    (University of Tartu)

  • Mart Kals

    (University of Tartu)

  • Liis Karo-Astover

    (University of Tartu)

  • Silva Kasela

    (University of Tartu)

  • Anastassia Kolde

    (University of Tartu
    University of Tartu)

  • Kristi Krebs

    (University of Tartu)

  • Kertu Liis Krigul

    (University of Tartu)

  • Jaanika Kronberg

    (University of Tartu)

  • Karoliina Kruusmaa

    (University of Tartu)

  • Viktorija Kukuškina

    (University of Tartu)

  • Kadri Kõiv

    (University of Tartu)

  • Kelli Lehto

    (University of Tartu)

  • Liis Leitsalu

    (University of Tartu)

  • Sirje Lind

    (University of Tartu)

  • Laura Birgit Luitva

    (University of Tartu
    University of Tartu)

  • Kristi Läll

    (University of Tartu)

  • Kreete Lüll

    (University of Tartu)

  • Kristjan Metsalu

    (University of Tartu)

  • Mait Metspalu

    (University of Tartu)

  • René Mõttus

    (University of Tartu
    University of Edinburgh)

  • Mari Nelis

    (University of Tartu)

  • Tiit Nikopensius

    (University of Tartu)

  • Miriam Nurm

    (University of Tartu)

  • Margit Nõukas

    (University of Tartu)

  • Marek Oja

    (University of Tartu)

  • Elin Org

    (University of Tartu)

  • Marili Palover

    (University of Tartu)

  • Priit Palta

    (University of Tartu)

  • Vasili Pankratov

    (University of Tartu)

  • Kateryna Pantiukh

    (University of Tartu)

  • Natalia Pervjakova

    (University of Tartu)

  • Natàlia Pujol-Gualdo

    (University of Tartu)

  • Anu Reigo

    (University of Tartu)

  • Ene Reimann

    (University of Tartu)

  • Steven Smit

    (University of Tartu)

  • Diana Rogozina

    (University of Tartu)

  • Dage Särg

    (University of Tartu)

  • Nele Taba

    (University of Tartu)

  • Harry-Anton Talvik

    (University of Tartu
    STACC)

  • Maris Teder-Laving

    (University of Tartu)

  • Neeme Tõnisson

    (University of Tartu)

  • Mariliis Vaht

    (University of Tartu)

  • Uku Vainik

    (University of Tartu
    University of Tartu
    McGill University)

  • Urmo Võsa

    (University of Tartu)

  • Burak Yelmen

    (University of Tartu)

  • Tõnu Esko

    (University of Tartu)

  • Raivo Kolde

    (University of Tartu)

  • Reedik Mägi

    (University of Tartu)

  • Jaak Vilo

    (University of Tartu
    STACC)

  • Triin Laisk

    (University of Tartu)

  • Andres Metspalu

    (University of Tartu)

Abstract

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.

Suggested Citation

  • Lili Milani & Maris Alver & Sven Laur & Sulev Reisberg & Toomas Haller & Oliver Aasmets & Erik Abner & Helene Alavere & Annely Allik & Tarmo Annilo & Krista Fischer & Robin Hofmeister & Georgi Hudjash, 2025. "The Estonian Biobank’s journey from biobanking to personalized medicine," Nature Communications, Nature, vol. 16(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-58465-3
    DOI: 10.1038/s41467-025-58465-3
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    References listed on IDEAS

    as
    1. Oliver Aasmets & Kertu Liis Krigul & Kreete Lüll & Andres Metspalu & Elin Org, 2022. "Gut metagenome associations with extensive digital health data in a volunteer-based Estonian microbiome cohort," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    2. Minna K. Karjalainen & Savita Karthikeyan & Clare Oliver-Williams & Eeva Sliz & Elias Allara & Wing Tung Fung & Praveen Surendran & Weihua Zhang & Pekka Jousilahti & Kati Kristiansson & Veikko Salomaa, 2024. "Genome-wide characterization of circulating metabolic biomarkers," Nature, Nature, vol. 628(8006), pages 130-138, April.
    3. Clare Bycroft & Colin Freeman & Desislava Petkova & Gavin Band & Lloyd T. Elliott & Kevin Sharp & Allan Motyer & Damjan Vukcevic & Olivier Delaneau & Jared O’Connell & Adrian Cortes & Samantha Welsh &, 2018. "The UK Biobank resource with deep phenotyping and genomic data," Nature, Nature, vol. 562(7726), pages 203-209, October.
    4. Alexander T. Williams & Jing Chen & Kayesha Coley & Chiara Batini & Abril Izquierdo & Richard Packer & Erik Abner & Stavroula Kanoni & David J. Shepherd & Robert C. Free & Edward J. Hollox & Nigel J. , 2023. "Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    5. Konrad J. Karczewski & Laurent C. Francioli & Grace Tiao & Beryl B. Cummings & Jessica Alföldi & Qingbo Wang & Ryan L. Collins & Kristen M. Laricchia & Andrea Ganna & Daniel P. Birnbaum & Laura D. Gau, 2020. "The mutational constraint spectrum quantified from variation in 141,456 humans," Nature, Nature, vol. 581(7809), pages 434-443, May.
    6. Aniket Mishra & Rainer Malik & Tsuyoshi Hachiya & Tuuli Jürgenson & Shinichi Namba & Daniel C. Posner & Frederick K. Kamanu & Masaru Koido & Quentin Le Grand & Mingyang Shi & Yunye He & Marios K. Geor, 2022. "Stroke genetics informs drug discovery and risk prediction across ancestries," Nature, Nature, vol. 611(7934), pages 115-123, November.
    7. Johannes Kettunen & Ayşe Demirkan & Peter Würtz & Harmen H.M. Draisma & Toomas Haller & Rajesh Rawal & Anika Vaarhorst & Antti J. Kangas & Leo-Pekka Lyytikäinen & Matti Pirinen & René Pool & Antti-Pek, 2016. "Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA," Nature Communications, Nature, vol. 7(1), pages 1-9, September.
    8. Ewen Callaway, 2024. "Estonians gave their DNA to science — now they’re learning their genetic secrets," Nature, Nature, vol. 631(8019), pages 17-17, July.
    9. Aniket Mishra & Rainer Malik & Tsuyoshi Hachiya & Tuuli Jürgenson & Shinichi Namba & Daniel C. Posner & Frederick K. Kamanu & Masaru Koido & Quentin Le Grand & Mingyang Shi & Yunye He & Marios K. Geor, 2022. "Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries," Nature, Nature, vol. 612(7938), pages 7-7, December.
    10. Davide Marnetto & Katri Pärna & Kristi Läll & Ludovica Molinaro & Francesco Montinaro & Toomas Haller & Mait Metspalu & Reedik Mägi & Krista Fischer & Luca Pagani, 2020. "Ancestry deconvolution and partial polygenic score can improve susceptibility predictions in recently admixed individuals," Nature Communications, Nature, vol. 11(1), pages 1-9, December.
    11. Mitja I. Kurki & Juha Karjalainen & Priit Palta & Timo P. Sipilä & Kati Kristiansson & Kati M. Donner & Mary P. Reeve & Hannele Laivuori & Mervi Aavikko & Mari A. Kaunisto & Anu Loukola & Elisa Lahtel, 2023. "Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population," Nature, Nature, vol. 615(7952), pages 19-19, March.
    12. Kaido Lepik & Tarmo Annilo & Viktorija Kukuškina & eQTLGen Consortium & Kai Kisand & Zoltán Kutalik & Pärt Peterson & Hedi Peterson, 2017. "C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis," PLOS Computational Biology, Public Library of Science, vol. 13(9), pages 1-20, September.
    13. Vasili Pankratov & Milyausha Yunusbaeva & Sergei Ryakhovsky & Maksym Zarodniuk & Bayazit Yunusbayev, 2022. "Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    14. Triin Laisk & Ana Luiza G. Soares & Teresa Ferreira & Jodie N. Painter & Jenny C. Censin & Samantha Laber & Jonas Bacelis & Chia-Yen Chen & Maarja Lepamets & Kuang Lin & Siyang Liu & Iona Y. Millwood , 2020. "The genetic architecture of sporadic and multiple consecutive miscarriage," Nature Communications, Nature, vol. 11(1), pages 1-12, December.
    15. Mitja I. Kurki & Juha Karjalainen & Priit Palta & Timo P. Sipilä & Kati Kristiansson & Kati M. Donner & Mary P. Reeve & Hannele Laivuori & Mervi Aavikko & Mari A. Kaunisto & Anu Loukola & Elisa Lahtel, 2023. "FinnGen provides genetic insights from a well-phenotyped isolated population," Nature, Nature, vol. 613(7944), pages 508-518, January.
    16. Natàlia Pujol-Gualdo & Kristi Läll & Maarja Lepamets & Henna-Riikka Rossi & Riikka K. Arffman & Terhi T. Piltonen & Reedik Mägi & Triin Laisk, 2022. "Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
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