全球基因组与健康联盟（GA4GH）：跨基因组研究与医疗保健领域数据共享的国际政策与标准。
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
作者信息
Rehm Heidi L, Page Angela J H, Smith Lindsay, Adams Jeremy B, Alterovitz Gil, Babb Lawrence J, Barkley Maxmillian P, Baudis Michael, Beauvais Michael J S, Beck Tim, Beckmann Jacques S, Beltran Sergi, Bernick David, Bernier Alexander, Bonfield James K, Boughtwood Tiffany F, Bourque Guillaume, Bowers Sarion R, Brookes Anthony J, Brudno Michael, Brush Matthew H, Bujold David, Burdett Tony, Buske Orion J, Cabili Moran N, Cameron Daniel L, Carroll Robert J, Casas-Silva Esmeralda, Chakravarty Debyani, Chaudhari Bimal P, Chen Shu Hui, Cherry J Michael, Chung Justina, Cline Melissa, Clissold Hayley L, Cook-Deegan Robert M, Courtot Mélanie, Cunningham Fiona, Cupak Miro, Davies Robert M, Denisko Danielle, Doerr Megan J, Dolman Lena I, Dove Edward S, Dursi L Jonathan, Dyke Stephanie O M, Eddy James A, Eilbeck Karen, Ellrott Kyle P, Fairley Susan, Fakhro Khalid A, Firth Helen V, Fitzsimons Michael S, Fiume Marc, Flicek Paul, Fore Ian M, Freeberg Mallory A, Freimuth Robert R, Fromont Lauren A, Fuerth Jonathan, Gaff Clara L, Gan Weiniu, Ghanaim Elena M, Glazer David, Green Robert C, Griffith Malachi, Griffith Obi L, Grossman Robert L, Groza Tudor, Guidry Auvil Jaime M, Guigó Roderic, Gupta Dipayan, Haendel Melissa A, Hamosh Ada, Hansen David P, Hart Reece K, Hartley Dean Mitchell, Haussler David, Hendricks-Sturrup Rachele M, Ho Calvin W L, Hobb Ashley E, Hoffman Michael M, Hofmann Oliver M, Holub Petr, Hsu Jacob Shujui, Hubaux Jean-Pierre, Hunt Sarah E, Husami Ammar, Jacobsen Julius O, Jamuar Saumya S, Janes Elizabeth L, Jeanson Francis, Jené Aina, Johns Amber L, Joly Yann, Jones Steven J M, Kanitz Alexander, Kato Kazuto, Keane Thomas M, Kekesi-Lafrance Kristina, Kelleher Jerome, Kerry Giselle, Khor Seik-Soon, Knoppers Bartha M, Konopko Melissa A, Kosaki Kenjiro, Kuba Martin, Lawson Jonathan, Leinonen Rasko, Li Stephanie, Lin Michael F, Linden Mikael, Liu Xianglin, Udara Liyanage Isuru, Lopez Javier, Lucassen Anneke M, Lukowski Michael, Mann Alice L, Marshall John, Mattioni Michele, Metke-Jimenez Alejandro, Middleton Anna, Milne Richard J, Molnár-Gábor Fruzsina, Mulder Nicola, Munoz-Torres Monica C, Nag Rishi, Nakagawa Hidewaki, Nasir Jamal, Navarro Arcadi, Nelson Tristan H, Niewielska Ania, Nisselle Amy, Niu Jeffrey, Nyrönen Tommi H, O'Connor Brian D, Oesterle Sabine, Ogishima Soichi, Wang Vivian Ota, Paglione Laura A D, Palumbo Emilio, Parkinson Helen E, Philippakis Anthony A, Pizarro Angel D, Prlic Andreas, Rambla Jordi, Rendon Augusto, Rider Renee A, Robinson Peter N, Rodarmer Kurt W, Rodriguez Laura Lyman, Rubin Alan F, Rueda Manuel, Rushton Gregory A, Ryan Rosalyn S, Saunders Gary I, Schuilenburg Helen, Schwede Torsten, Scollen Serena, Senf Alexander, Sheffield Nathan C, Skantharajah Neerjah, Smith Albert V, Sofia Heidi J, Spalding Dylan, Spurdle Amanda B, Stark Zornitza, Stein Lincoln D, Suematsu Makoto, Tan Patrick, Tedds Jonathan A, Thomson Alastair A, Thorogood Adrian, Tickle Timothy L, Tokunaga Katsushi, Törnroos Juha, Torrents David, Upchurch Sean, Valencia Alfonso, Guimera Roman Valls, Vamathevan Jessica, Varma Susheel, Vears Danya F, Viner Coby, Voisin Craig, Wagner Alex H, Wallace Susan E, Walsh Brian P, Williams Marc S, Winkler Eva C, Wold Barbara J, Wood Grant M, Woolley J Patrick, Yamasaki Chisato, Yates Andrew D, Yung Christina K, Zass Lyndon J, Zaytseva Ksenia, Zhang Junjun, Goodhand Peter, North Kathryn, Birney Ewan
机构信息
Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Massachusetts General Brigham, Boston, MA, USA.
出版信息
Cell Genom. 2021 Nov 10;1(2). doi: 10.1016/j.xgen.2021.100029.
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.
全球基因组与健康联盟（GA4GH）旨在通过统一数据聚合和联邦方法实现临床和基因组数据的负责任共享，从而加速生物医学进步。基因组测序成本的降低（以及其他全基因组分子检测），及其临床效用证据的不断增加，将很快推动数千万人的序列数据生成，且数据多样性水平也会不断提高。从这一角度出发，我们介绍了GA4GH应对这一数据革命主要挑战的策略。我们描述了GA4GH组织，该组织由八个工作流的开发工作推动，并以24个驱动项目及其他关键利益相关者的需求为依据。我们介绍了GA4GH一系列安全、可互操作的技术标准和政策框架，并审视了标准的现状、它们与研究和临床护理关键领域的相关性以及GA4GH的未来计划。广泛的国际参与来构建、采用和部署GA4GH标准与框架，将催化一场前所未有的数据共享努力，这对于推进基因组医学以及确保所有人群都能受益至关重要。
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