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2021 年的欧洲基因组-表型数据库。

The European Genome-phenome Archive in 2021.

机构信息

European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Hinxton CB10 1SD, UK.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr Aiguader 88, Barcelona 08003, Spain.

出版信息

Nucleic Acids Res. 2022 Jan 7;50(D1):D980-D987. doi: 10.1093/nar/gkab1059.

DOI:10.1093/nar/gkab1059
PMID:34791407
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8728218/
Abstract

The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission is to foster hosted data reuse, enable reproducibility, and accelerate biomedical and translational research in line with the FAIR principles. Launched in 2008, the EGA has grown quickly, currently archiving over 4,500 studies from nearly one thousand institutions. The EGA operates a distributed data access model in which requests are made to the data controller, not to the EGA, therefore, the submitter keeps control on who has access to the data and under which conditions. Given the size and value of data hosted, the EGA is constantly improving its value chain, that is, how the EGA can contribute to enhancing the value of human health data by facilitating its submission, discovery, access, and distribution, as well as leading the design and implementation of standards and methods necessary to deliver the value chain. The EGA has become a key GA4GH Driver Project, leading multiple development efforts and implementing new standards and tools, and has been appointed as an ELIXIR Core Data Resource.

摘要

欧洲基因组-表型档案(EGA-https://ega-archive.org/)是一个资源,用于长期安全地归档所有类型的潜在可识别的遗传、表型和临床数据,这些数据来自于生物医学研究项目。其使命是促进托管数据的再利用,支持可重复性,并根据 FAIR 原则加速生物医学和转化研究。EGA 于 2008 年推出,发展迅速,目前已从近千家机构归档了超过 4500 项研究。EGA 采用分布式数据访问模型,请求是向数据控制器提出的,而不是向 EGA 提出的,因此,提交者可以控制谁有权访问数据以及在什么条件下访问。鉴于托管数据的规模和价值,EGA 不断改进其价值链,即 EGA 如何通过促进数据的提交、发现、访问和分发来提高人类健康数据的价值,以及引领设计和实施必要的标准和方法来实现价值链。EGA 已成为关键的 GA4GH 驱动项目,领导多项开发工作,并实施新的标准和工具,并被任命为 ELIXIR 核心数据资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/9ead3b2507d8/gkab1059fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/a792d8234183/gkab1059gra1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/cc8c4269ebda/gkab1059fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/26cac8baddc9/gkab1059fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/11daa4b346b6/gkab1059fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/9ead3b2507d8/gkab1059fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/a792d8234183/gkab1059gra1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/cc8c4269ebda/gkab1059fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/26cac8baddc9/gkab1059fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/11daa4b346b6/gkab1059fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b352/8728218/9ead3b2507d8/gkab1059fig4.jpg

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