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1.
Cell Genom ; 1(1)2021 Oct 13.
Article in English | MEDLINE | ID: mdl-36082306

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.

2.
Cell Genom ; 1(1): 100008, 2021 Oct 13.
Article in English | MEDLINE | ID: mdl-36777714
3.
Cell Genom ; 1(2): 100037, 2021 Nov 10.
Article in English | MEDLINE | ID: mdl-36778586
4.
5.
Nature ; 546(7656): 43, 2017 05 31.
Article in English | MEDLINE | ID: mdl-28569803
10.
Nat Rev Genet ; 16(4): 194, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25732610
11.
Nat Rev Genet ; 16(3): 128-9, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25690388
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