Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

October 14, 2022

Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a
range of human diseases and traits. However, most biobanks are primarily composed of individuals of Euro-
pean ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)—a collaborative network of
23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data
linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using
harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints.
This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity
in case definitions, recruitment strategies, and baseline characteristics. This collaborative effort improves
GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling
the nomination of disease genes and drug candidates by incorporating gene and protein expression data and
providing insight into the underlying biology of human diseases and traits.