爱沙尼亚生物银行从生物银行到个性化医疗的历程

IF 15.7 1区 综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES
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 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
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引用次数: 0

摘要

大型生物银行为人类基因组学的研究和创新以及个性化医疗的实施设定了新的标准。爱沙尼亚生物银行成立于25年前,迄今为止,其生物标本、临床、健康、组学和生活方式数据已被收录在800多份出版物中。使生物库在国际上独一无二的是它的转化重点,积极努力开展基于遗传发现的临床研究,并探索结果回报对参与者的影响。在这篇综述中,我们提供了爱沙尼亚生物银行的概述,强调其在研究遗传变异和定量表型对健康相关特征的影响方面的优势,将基因组学引入临床的方法和框架的发展,以及其作为在国家层面及以外实施个性化医疗的驱动力的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

The Estonian Biobank’s journey from biobanking to personalized medicine

The Estonian Biobank’s journey from biobanking to personalized medicine

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.

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来源期刊
Nature Communications
Nature Communications Biological Science Disciplines-
CiteScore
24.90
自引率
2.40%
发文量
6928
审稿时长
3.7 months
期刊介绍: Nature Communications, an open-access journal, publishes high-quality research spanning all areas of the natural sciences. Papers featured in the journal showcase significant advances relevant to specialists in each respective field. With a 2-year impact factor of 16.6 (2022) and a median time of 8 days from submission to the first editorial decision, Nature Communications is committed to rapid dissemination of research findings. As a multidisciplinary journal, it welcomes contributions from biological, health, physical, chemical, Earth, social, mathematical, applied, and engineering sciences, aiming to highlight important breakthroughs within each domain.
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