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The NCBI dbGaP database of genotypes and phenotypes

The National Center for Biotechnology Information has created the dbGaP public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them. dbGaP assigns stable, unique identifiers to studies and subsets of information from those studies, including documents, individual phenotypic variables, tables of trait data, sets of genotype data, computed phenotype-genotype associations, and groups of study subjects who have given similar consents for use of their data.

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Figure 1: Accession numbers in dbGaP are created separately for a study and its subordinate objects — phenotype variables, phenotype trait tables, documents and genotype datasets – prefixed phs, phv, pht, phd and phg, respectively.

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Acknowledgements

Thanks to T. Manolio, J. Coleman, F Collins and C. O'Donnell for useful comments and discussion. This research was supported by the Intramural Research Program of the US National Institutes of Health, National Library of Medicine.

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Correspondence to Stephen T Sherry.

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Mailman, M., Feolo, M., Jin, Y. et al. The NCBI dbGaP database of genotypes and phenotypes. Nat Genet 39, 1181–1186 (2007). https://doi.org/10.1038/ng1007-1181

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