WES

Landmark genomic data release of whole-genome sequences (WGS), whole-exome sequences (WES), and genotyping array data from over 245,000 diverse participants. Demonstrated 2.1× increase in discovery power for rare variants by including diverse populations. Data accessible via the Researcher Workbench.

Whole-exome sequencing of BBJ participants enabling rare variant association studies. Demonstrated expanded cancer risk profiles for BRCA1/BRCA2 pathogenic variants in the Japanese population, revealing population-specific pathogenic variant frequencies.

Whole-exome sequencing of MVP participants enabling rare variant association studies. Major pharmacogenomics initiatives leveraging the extensive VA medication records to discover genetic determinants of drug response and adverse reactions across diverse ancestries.

Gene-based collapsing analysis in 281k participants identified 1,703 gene-phenotype associations. Rare variant contribution to common disease demonstrated.

WES expanded to ~454k participants, enabling comprehensive rare-variant association studies at biobank scale.

Protein-altering CNV analysis from WES data in 468,570 participants. CNV-pQTL validation and phenome-wide associations covering 41 quantitative traits.

First 49,960 WES participants released. Enables rare-coding variant association and gene-based tests.