Workshop proceedings: GWAS summary statistics standards and sharing
Jacqueline A.L. MacArthur,
Annalisa Buniello,
Laura W. Harris,
James Hayhurst,
Aoife McMahon,
Elliot Sollis,
Maria Cerezo,
Peggy Hall,
Elizabeth Lewis,
Patricia L. Whetzel,
Orli G. Bahcall,
Inês Barroso,
Robert J. Carroll,
Michael Inouye,
Teri A. Manolio,
Stephen S. Rich,
Lucia A. Hindorff,
Ken Wiley,
Helen Parkinson
Affiliations
Jacqueline A.L. MacArthur
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK; BHF Data Science Centre, Health Data Research UK, London, UK; Corresponding author
Annalisa Buniello
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Laura W. Harris
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
James Hayhurst
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Aoife McMahon
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Elliot Sollis
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Maria Cerezo
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Peggy Hall
Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Elizabeth Lewis
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Patricia L. Whetzel
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK
Orli G. Bahcall
Cell Genomics, Cell Press, 50 Hampshire St., 5th Floor, Cambridge, MA 02139, USA
Inês Barroso
Exeter Centre of Excellence in Diabetes (EXCEED), University of Exeter Medical School, Exeter, UK
Robert J. Carroll
Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA
Michael Inouye
Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, 75 Commercial Rd., Melbourne 3004, VIC, Australia; The Alan Turing Institute, London, UK
Teri A. Manolio
Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Stephen S. Rich
Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA
Lucia A. Hindorff
Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Ken Wiley
Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Helen Parkinson
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK; Corresponding author
Summary: 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.
