dbGaP

dbGaP, the database of Genotypes and Phenotypes, is a repository for archiving and distributing data from studies that investigate the relationships between genetic variation and human traits. It is managed by the National Center for Biotechnology Information (NCBI), a division of the National Institutes of Health (NIH). The database stores genotype and phenotype data from human studies, including genome-wide association studies, sequencing projects, and other genetic investigations, along with study metadata, consent information, and data-use restrictions.

Data submission and content

Researchers deposit data through study submitters who prepare submission packages that describe the study and the data. dbGaP includes genotype data, sequencing data, phenotype measurements, and supporting metadata. Access to the detailed data is typically controlled, while some aggregated or de-identified information may be more openly available. The system is designed to connect data with the consent and governance framework that accompanies each study.

Access and governance

Access to controlled data is governed by Data Access Committees (DACs) that review Data Access Requests (DARs). Applicants provide a research plan, institutional assurances, and sign a Data Use Certification. Approved users gain access to the data through the dbGaP interface and must comply with Data Use Limitations encoded by the Data Use Ontology (DUO). DUO terms express permissible uses (such as Health/Medical Research) and restrictions (for example, prohibitions on re-identification or commercial use).

Impact and purpose

dbGaP supports secondary analyses and reproducible research in human genetics by enabling controlled sharing of genotype and phenotype data, while protecting participant privacy through consent-based restrictions and access controls. It serves as a key resource within the NIH data-sharing ecosystem and the broader genomics research community.