Details

Autor(en) / Beteiligte

• 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

Titel

Workshop proceedings: GWAS summary statistics standards and sharing

Ist Teil von

• Cell genomics, 2021-10, Vol.1 (1), p.100004, Article 100004

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2021

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• 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. MacArthur et al. report on a GWAS Catalog community workshop on the sharing of summary statistics to ensure that these are findable, accessible, interoperable, and reusable (FAIR). They provide recommendations and guidance to incentivize broader data sharing, standards, and FAIRness in order to advance genomic medicine.