爱沙尼亚生物银行从生物样本库到个性化医疗的历程。
The Estonian Biobank's journey from biobanking to personalized medicine.
作者信息
Milani Lili, Alver Maris, Laur Sven, Reisberg Sulev, Haller Toomas, Aasmets Oliver, Abner Erik, Alavere Helene, Allik Annely, Annilo Tarmo, Fischer Krista, Hofmeister Robin, Hudjashov Georgi, Jõeloo Maarja, Kals Mart, Karo-Astover Liis, Kasela Silva, Kolde Anastassia, Krebs Kristi, Krigul Kertu Liis, Kronberg Jaanika, Kruusmaa Karoliina, Kukuškina Viktorija, Kõiv Kadri, Lehto Kelli, Leitsalu Liis, Lind Sirje, Luitva Laura Birgit, Läll Kristi, Lüll Kreete, Metsalu Kristjan, Metspalu Mait, Mõttus René, Nelis Mari, Nikopensius Tiit, Nurm Miriam, Nõukas Margit, Oja Marek, Org Elin, Palover Marili, Palta Priit, Pankratov Vasili, Pantiukh Kateryna, Pervjakova Natalia, Pujol-Gualdo Natàlia, Reigo Anu, Reimann Ene, Smit Steven, Rogozina Diana, Särg Dage, Taba Nele, Talvik Harry-Anton, Teder-Laving Maris, Tõnisson Neeme, Vaht Mariliis, Vainik Uku, Võsa Urmo, Yelmen Burak, Esko Tõnu, Kolde Raivo, Mägi Reedik, Vilo Jaak, Laisk Triin, Metspalu Andres
机构信息
Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Estonian Biobank, Institute of Genomics, University of Tartu, Tartu, Estonia.
出版信息
Nat Commun. 2025 Apr 5;16(1):3270. doi: 10.1038/s41467-025-58465-3.
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.
大型生物样本库为人类基因组学研究与创新以及个性化医疗的实施树立了新的标准。爱沙尼亚生物样本库成立于四分之一个世纪前，其生物样本、临床、健康、组学和生活方式数据迄今已被纳入800多篇出版物中。该生物样本库在国际上的独特之处在于其转化研究重点，积极致力于基于基因研究结果开展临床研究，并探索结果反馈对参与者的影响。在本综述中，我们概述了爱沙尼亚生物样本库，强调了其在研究基因变异和定量表型对健康相关性状的影响方面的优势，将基因组学应用于临床的方法和框架的开发，以及其在国家层面及其他地区推动个性化医疗实施方面的作用。
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