Exome

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.

Exome Aggregation Consortium (ExAC) launched at the Broad Institute with exome data from 61,486 individuals across multiple disease-specific and population genetic studies. Provided the first comprehensive reference of population genetic variation, transforming variant interpretation in medical genetics.

Rebranded to Genome Aggregation Database (gnomAD) with broadened scope. gnomAD v2.1 released 125,748 exomes and 15,708 genomes — a massive expansion over ExAC. Introduced population-specific allele frequency data across multiple ancestral groups and provided the most comprehensive catalog of human genetic variation to date.

gnomAD v4 dramatically expanded to 807,098 exomes and 76,215 genomes, with substantially improved ancestral diversity. v4 included >30 genetic ancestry groups, enabling more precise population-specific allele frequency estimates. New constraint metrics across diverse ancestries and improved structural variant calls made this the most comprehensive human variation resource ever created.

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

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