Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …

Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibility to
diseases, calculated for individuals as weighted counts of thousands of risk variants in which …

Glaucoma, a disease characterized by progressive optic nerve degeneration, can be
prevented through timely diagnosis and treatment. We characterize optic nerve photographs …

Summary The China Kadoorie Biobank (CKB) is a population-based prospective cohort of>
512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across …

Importance Refractive error (RE) is the most common form of visual impairment, and myopic
RE is associated with an increased risk of primary open-angle glaucoma (POAG). Whether …

Genome-wide association studies (GWASs) require accurate cohort phenotyping, but expert
labeling can be costly, time intensive, and variable. Here, we develop a machine learning …

Glaucoma is one of the world's leading causes of irreversible blindness. A complex,
multifactorial disease, the underlying pathogenesis and reasons for disease progression are …

As an anatomical extension of the brain, the retina of the eye is synaptically connected to the
visual cortex, establishing physiological connections between the eye and the brain. Despite …

Cupping of the optic nerve head, a highly heritable trait, is a hallmark of glaucomatous optic
neuropathy. Two key parameters are vertical cup-to-disc ratio (VCDR) and vertical disc …

Purpose To identify novel susceptibility loci for retinal vascular tortuosity, to better
understand the molecular mechanisms modulating this trait, and reveal causal relationships …