Although plasma proteins have important roles in biological processes and are the direct
targets of many drugs, the genetic factors that control inter-individual variation in plasma …

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

Background Tofersen is an antisense oligonucleotide that mediates the degradation of
superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis. Intrathecal …

BACKGROUND & AIMS: We aimed to characterize the genetic susceptibility to primary
sclerosing cholangitis (PSC) by means of a genome-wide association analysis of single …

Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …

Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …

The human proteome is a major source of therapeutic targets. Recent genetic association
analyses of the plasma proteome enable systematic evaluation of the causal consequences of …

Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4–7.5% of
individuals with inflammatory bowel disease. We performed a genome-wide association …

Identifying genetic variants associated with circulating protein concentrations (protein
quantitative trait loci; pQTLs) and integrating them with variants from genome-wide association …

Niemann-Pick type C1 disease is an autosomal-recessive lysosomal storage disorder. Loss
of function of the npc1 gene leads to abnormal accumulation of free cholesterol and …