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Data use under the NIH GWAS data sharing policy and future directions

Dina N Paltoo et al. Nat Genet. 2014 Sep.

Abstract

In 2007, the US National Institutes of Health (NIH) introduced the Genome-Wide Association Studies (GWAS) Policy and the database of Genotypes and Phenotypes (dbGaP) to facilitate 'controlled' access to GWAS data based on participants' informed consent. dbGaP has provided 2,221 investigators access to 304 studies, resulting in 924 publications and significant scientific advances. Following on this success, the 2014 Genomic Data Sharing Policy will extend the GWAS Policy to additional data types.

Supplementary information: The online version of this article (doi:10.1038/ng.3062) contains supplementary material, which is available to authorized users.

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Conflict of interest statement

The author declare no competing financial interests.

Figures

Figure 1
Figure 1. Number of dbGaP samples by broad phenotypic category and genomic technology.
(a) GWAS samples in dbGaP by broad phenotypic category and size of SNP array. Original submitting investigators select a broad phenotypic category for their studies from standard National Library of Medicine Medical Subject Headings (MeSH) at the time of study registration. The phenotypic categories of GWAS samples are shown by the scale of genotypic array used in the study (n = 393,729). (b) dbGaP samples by type of next-generation DNA sequencing performed. In addition to GWAS data, dbGaP maintains data collected using next-generation sequencing technologies, including sequencing of all genomic DNA (whole-genome), some genomic DNA (targeted genome), DNA expressed as RNA (whole-exome) and RNA-seq studies (n = 65,770). (c) dbGaP samples by type of genomic analysis performed (n = 459,499).
Figure 2
Figure 2. dbGaP data access activity from April 2007 to 1 December 2013.
Shown is the number of DARs submitted to the NIH, approved DARs, downloaded data sets and average time for DACs to process DARs.
Figure 3
Figure 3. Publications describing research involving the secondary analyses of dbGaP data.
The cumulative number of publications reported by approved users of dbGaP data was collected from annual reports from 2007 to 2013.
See this image and copyright information in PMC

References

    1. Mailman MD, et al. Nat. Genet. 2007;39:1181–1186. doi: 10.1038/ng1007-1181. - DOI - PMC - PubMed
    1. Ramos EM, et al. Am. J. Hum. Genet. 2013;92:479–488. doi: 10.1016/j.ajhg.2012.08.034. - DOI - PMC - PubMed
    1. Hamza TH, et al. Nat. Genet. 2010;42:781–785. doi: 10.1038/ng.642. - DOI - PMC - PubMed
    1. Gelernter J, et al. Mol. Psychiatry. 2014;19:41–49. doi: 10.1038/mp.2013.145. - DOI - PMC - PubMed
    1. McCarthy SE, et al. Nat. Genet. 2009;41:1223–1227. doi: 10.1038/ng.474. - DOI - PMC - PubMed

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