Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …

A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …

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 …

Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …

High cholesterol is a major risk factor for cardiovascular disease. Currently, no drug lowers
cholesterol through directly promoting cholesterol excretion. Human genetic studies have …

Long-read sequencing (LRS) promises to improve the characterization of structural variants
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …

Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …

Coronary artery disease represents the leading cause of death worldwide, sparing no
nation, ethnicity, or economic stratum. Coronary artery disease is partly heritable. While …

Understanding the impact of rare variants is essential to understanding human health. We
analyze rare (MAF< 0.1%) variants against 4264 phenotypes in 49,960 exome-sequenced …