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到 2022 年,利用欧洲基础设施获取 100 万个人类基因组。

Leveraging European infrastructures to access 1 million human genomes by 2022.

机构信息

ELIXIR Hub, Wellcome Genome Campus, Hinxton, Cambridge, UK.

University of Zurich, Zurich, Switzerland.

出版信息

Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27.

Abstract

Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the value of the genomic data generated, these data will need to be shared between institutions and across countries. In recognition of this challenge, 21 European countries recently signed a declaration to transnationally share data on at least 1 million human genomes by 2022. In this Roadmap, we identify the challenges of data sharing across borders and demonstrate that European research infrastructures are well-positioned to support the rapid implementation of widespread genomic data access.

摘要

人类基因组学正经历着从主要由研究驱动向医疗保健驱动的转变,因为现在许多欧洲国家都有了初步的精准医学计划。为了最大限度地发挥生成的基因组数据的价值,这些数据将需要在机构之间和国家之间共享。认识到这一挑战,最近有 21 个欧洲国家签署了一项宣言,承诺到 2022 年至少跨国分享 100 万个人类基因组的数据。在本路线图中,我们确定了跨境数据共享的挑战,并证明欧洲研究基础设施已经做好了支持广泛基因组数据访问的快速实施的准备。

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