Exome-sequencing studies have generally been underpowered to identify deleterious
alleles with a large effect on complex traits as such alleles are mostly rare. Because the …

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to
disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

The UK Biobank is a prospective study of 502,543 individuals, combining extensive
phenotypic and genotypic data with streamlined access for researchers around the world …

The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …

Exome association studies to date have generally been underpowered to systematically
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …