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. 2021 Oct 13;1(1):100004.
doi: 10.1016/j.xgen.2021.100004.

Workshop proceedings: GWAS summary statistics standards and sharing

Jacqueline A L MacArthur  1   2 , Annalisa Buniello  1 , Laura W Harris  1 , James Hayhurst  1 , Aoife McMahon  1 , Elliot Sollis  1 , Maria Cerezo  1 , Peggy Hall  3 , Elizabeth Lewis  1 , Patricia L Whetzel  1 , Orli G Bahcall  4 , Inês Barroso  5 , Robert J Carroll  6 , Michael Inouye  7   8   9 , Teri A Manolio  3 , Stephen S Rich  10 , Lucia A Hindorff  3 , Ken Wiley  3 , Helen Parkinson  1
Affiliations

Workshop proceedings: GWAS summary statistics standards and sharing

Jacqueline A L MacArthur et al. Cell Genom. .

Abstract

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.

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Conflict of interest statement

DECLARATION OF INTERESTS J.A.L.M.’s immediate family member is an employee and shareholder of Illumina, Inc. P.L.W. is employed by an SME with an interest in GWAS, but the work described in this publication predates this employment.

Figures

Figure 1
Figure 1
Workshop attendees (A and B) Breakdown of workshop attendees by stakeholder category (A) and planned uses of GWAS SumStats (B) for 37 workshop attendees (35 for planned uses) who completed the pre-workshop survey. Attendees were able to select multiple stakeholder categories and planned uses.
See this image and copyright information in PMC

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