GA4GH: International policies and standards for data sharing across genomic research and healthcare
GA4GH: International policies and standards for data sharing across genomic research and healthcare
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DOI：
10.1016/j.xgen.2021.100029
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发表时间：
2021-11-10
期刊：
影响因子：
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通讯作者：
Birney, Ewan
中科院分区：
文献类型：
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作者：
Rehm, Heidi L.;Page, Angela J. H.;Birney, Ewan
全球基因组学与健康联盟（GA4GH）旨在通过统一的数据聚合和联合的方法实现临床和基因组数据的负责任共享，从而加速生物医学的进步。基因组测序成本的下降（以及其他全基因组测定）和临床应用证据的增加将很快推动数千万人序列数据的产生，其多样性水平不断提高。从这个角度来看，我们提出了应对这场数据革命的主要挑战的GA4GH战略。我们描述了GA4GH组织，它由八个工作流程的开发工作推动，并由24个驱动项目和其他关键利益相关者的需求提供信息。我们提出了一套安全的、可互操作的技术标准和政策框架，并回顾了标准的现状，它们与关键研究和临床护理领域的相关性，以及GA4GH的未来计划。广泛的国际参与建立、采用和部署GA4GH标准和框架将促进数据共享方面前所未有的努力，这对于推进基因组医学和确保所有人群都能获得其利益至关重要。
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-widemolecular 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.