The NCBI dbGaP database of genotypes and phenotypes

Abstract

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.

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 a phs, phv, pht, phd, and phg, respectively. Accession numbers have suffixes “v” for data version, “p” for participant set version, and “c” for consent group version. Phenotype and genotype data are distributed as both public summary records and individual-level data that require authorization to use. Associations between genotypes and a phenotype trait of interest are not subordinate objects of a study, as an analysis may include data components from several studies simultaneously.