MacArthur Jacqueline A L, Buniello Annalisa, Harris Laura W, Hayhurst James, McMahon Aoife, Sollis Elliot, Cerezo Maria, Hall Peggy, Lewis Elizabeth, Whetzel Patricia L, Bahcall Orli G, Barroso Inês, Carroll Robert J, Inouye Michael, Manolio Teri A, Rich Stephen S, Hindorff Lucia A, Wiley Ken, Parkinson Helen
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
BHF Data Science Centre, Health Data Research UK, London, UK.
Cell Genom. 2021 Oct 13;1(1). doi: 10.1016/j.xgen.2021.100004.
Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resolving the genetic basis of disease. However, most GWAS SumStats are not readily accessible because of limited sharing and a lack of defined standards. With the aim of increasing the availability, quality, and utility of GWAS SumStats, the National Human Genome Research Institute-European Bioinformatics Institute (NHGRI-EBI) GWAS Catalog organized a community workshop to address the standards, infrastructure, and incentives required to promote and enable sharing. We evaluated the barriers to SumStats sharing, both technological and sociological, and developed an action plan to address those challenges and ensure that SumStats and study metadata are findable, accessible, interoperable, and reusable (FAIR). We encourage early deposition of datasets in the GWAS Catalog as the recognized central repository. We recommend standard requirements for reporting elements and formats for SumStats and accompanying metadata as guidelines for community standards and a basis for submission to the GWAS Catalog. Finally, we provide recommendations to enable, promote, and incentivize broader data sharing, standards and FAIRness in order to advance genomic medicine.
全基因组关联研究(GWAS)已实现对人类复杂性状的可靠定位。公开共享GWAS汇总统计数据(SumStats)对于促进更大规模的荟萃分析至关重要,而这些荟萃分析对于增强解析疾病遗传基础的能力是必要的。然而,由于共享有限且缺乏明确标准,大多数GWAS的SumStats不易获取。为了提高GWAS SumStats的可用性、质量和实用性,美国国家人类基因组研究所 - 欧洲生物信息学研究所(NHGRI - EBI)的GWAS目录组织了一次社区研讨会,以探讨促进和实现共享所需的标准、基础设施和激励措施。我们评估了SumStats共享在技术和社会层面的障碍,并制定了一项行动计划来应对这些挑战,确保SumStats和研究元数据是可查找、可访问、可互操作和可重复使用的(FAIR)。我们鼓励尽早将数据集存入GWAS目录这一公认的中央存储库。我们建议对SumStats及相关元数据的报告要素和格式提出标准要求,作为社区标准的指南以及提交至GWAS目录的依据。最后,我们提供相关建议,以实现、促进和激励更广泛的数据共享、标准制定以及FAIR原则,从而推动基因组医学发展。