The European Genome-phenome Archive in 2021.
The European Genome-phenome Archive in 2021.
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DOI：
10.1093/nar/gkab1059
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发表时间：
2022-01-07
影响因子：
14.9
通讯作者：
Rambla J
中科院分区：
文献类型：
--
作者：
Freeberg MA;Fromont LA;D'Altri T;Romero AF;Ciges JI;Jene A;Kerry G;Moldes M;Ariosa R;Bahena S;Barrowdale D;Barbero MC;Fernandez-Orth D;Garcia-Linares C;Garcia-Rios E;Haziza F;Juhasz B;Llobet OM;Milla G;Mohan A;Rueda M;Sankar A;Shaju D;Shimpi A;Singh B;Thomas C;de la Torre S;Uyan U;Vasallo C;Flicek P;Guigo R;Navarro A;Parkinson H;Keane T;Rambla J
欧洲基因组-表型档案（EGA - https://ega-archive.org/）是生物医学研究项目产生的所有类型的潜在可识别的遗传、表型和临床数据的长期安全存档资源。其使命是促进托管数据的重用，实现可重复性，并根据FAIR原则加速生物医学和转化研究。自2008年启动以来，EGA发展迅速，目前存档了来自近1000个机构的4500多项研究。EGA操作分布式数据访问模型，在该模型中，请求是向数据控制器发出的，而不是向EGA发出的，因此，提交者可以控制谁可以访问数据以及在什么条件下访问数据。鉴于托管数据的规模和价值，环境评估局正在不断改进其价值链，即环境评估局如何通过促进提交、发现、访问和分发人类健康数据，以及领导设计和实施实现价值链所需的标准和方法，从而为提高人类健康数据的价值作出贡献。EGA已成为关键的GA4GH驱动程序项目，领导多项开发工作并实施新的标准和工具，并已被指定为ELIXIR核心数据资源。欧洲基因组-表型档案通过向全世界的研究人员提供数据提交、验证、发现和访问服务，为人类基因组学和健康社区提供服务。通过实施社区标准并确保数据和工具的互操作性，以加速生物医学和转化研究，实现数据重用价值的最大化。
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. The European Genome-phenome Archive serves human genomics and health communities by offering data submission, validation, discovery, and access services to researchers worldwide. Data reuse value is maximised by implementing community standards and ensuring interoperability of data and tools to accelerate biomedical and translational research.
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影响因子：
14.9
作者：
Harrison PW;Ahamed A;Aslam R;Alako BTF;Burgin J;Buso N;Courtot M;Fan J;Gupta D;Haseeb M;Holt S;Ibrahim T;Ivanov E;Jayathilaka S;Balavenkataraman Kadhirvelu V;Kumar M;Lopez R;Kay S;Leinonen R;Liu X;O'Cathail C;Pakseresht A;Park Y;Pesant S;Rahman N;Rajan J;Sokolov A;Vijayaraja S;Waheed Z;Zyoud A;Burdett T;Cochrane G
通讯作者：
Cochrane G
影响因子：
14.9
作者：
Arita M;Karsch-Mizrachi I;Cochrane G
通讯作者：
Cochrane G
DOI：
10.1093/bioinformatics/btab481
发表时间：
2021-08-25
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Harrow J;Drysdale R;Smith A;Repo S;Lanfear J;Blomberg N
通讯作者：
Blomberg N
影响因子：
6.6
作者：
Leivonen, Suvi-Katri;Sahlberg, Kristine Kleivi;Perala, Merja
通讯作者：
Perala, Merja
影响因子：
30.8
作者：
Lappalainen I;Almeida-King J;Kumanduri V;Senf A;Spalding JD;Ur-Rehman S;Saunders G;Kandasamy J;Caccamo M;Leinonen R;Vaughan B;Laurent T;Rowland F;Marin-Garcia P;Barker J;Jokinen P;Torres AC;de Argila JR;Llobet OM;Medina I;Puy MS;Alberich M;de la Torre S;Navarro A;Paschall J;Flicek P
通讯作者：
Flicek P