Figure 1.

Biobank utility for gene discovery and clinical translation. Digital biobanks are large data repositories that link EHRs, patient surveys and genetic data. The construction of biobanks was incentivized by precision medicine discoveries of clinically relevant disease subtypes. Recognizing that subtype analyses require large cohorts, governments began investing in the construction of digital biobanks. Cohorts can be efficiently constructed for genetic studies of common or rare variants from phenotype data captured by EHRs or patient surveys; or for PheWAS from genetic data. Created with images from BioRender.com.

EHRs, electronic health records; GWAS, genome-wide association studies; PheWAS, phenome-wide association studies.