Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms
on the transcriptome. To investigate the genetics of gene expression, we performed cis…

The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing (…

Height is a highly heritable, classic polygenic trait with approximately 700 common associated
variants identified through genome-wide association studies so far. Here, we report 83 …

Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …

We conducted a genome-wide association study for primary open-angle glaucoma (POAG)
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …

We report a genome-wide association study for open-angle glaucoma (OAG) blindness
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …

Central corneal thickness (CCT) is associated with eye conditions including keratoconus and
glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian …

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide.
To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …

Handedness refers to a consistent asymmetry in skill or preferential use between the hands
and is related to lateralization within the brain of other functions such as language. Previous …

Next generation sequencing of uveal melanoma (UM) samples has identified a number of
recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11…