AI Article Synopsis

  • Genome-wide association studies (GWAS) are important for mapping complex human traits, but access to summary statistics (SumStats) is limited due to sharing practices and lack of standards.
  • The NHGRI-EBI GWAS Catalog held a workshop to create an action plan that addresses technological and sociological barriers to data sharing, advocating for datasets to be Findable, Accessible, Interoperable, and Reusable (FAIR).
  • Recommendations include establishing standardized reporting for SumStats and metadata, encouraging early data deposition in the GWAS Catalog, and promoting broader data sharing to enhance genomic medicine.

Article 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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9451133PMC
http://dx.doi.org/10.1016/j.xgen.2021.100004DOI Listing

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