Background As next-generation sequencing (NGS) becomes more feasible and accessible,
its application in medical genetics becomes increasingly prevalent. Ophthalmic diseases …

Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG)
with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole …

OBJECTIVE: Genome-wide association studies have revealed new insights into the genetic
determinants of open-angle glaucoma (OAG). This study was performed to determine to …

Purpose:: Develop a logic-based system to analyze damaging variants and maximize
discovery of disease-related genome variations identified through DNA sequencing of …

Purpose: Primary open angle glaucoma (POAG) is a genetic disease with known variants in
many different genes, some causal and some conferring risk only. Traditional annotation …

Purpose: Glaucoma is the leading causes of irreversible blindness worldwide. Previous
genome-wide association studies have uncovered over 100 loci for primary open-angle …

Our understanding of the genetic architecture of common eye diseases, such as myopia,
age-related macular degeneration and glaucoma, is rapidly expanding. With reducing costs …

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 …

Purpose: The majority of primary open-angle glaucoma (POAG) disease burden is currently
unexplained with known Mendelian genes only accounting for around 5%. We hypothesize …

Purpose: Primary open angle glaucoma (POAG) accounts for approximately 75% of
glaucoma in the Western world and is a phenotypically and genetically complex disease …