High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma.
Connor J GreatbatchQinyi LuSandy HungAlexander J BarnettKristof WingHelena LiangXikun HanTiger ZhouOwen M SiggsDavid A MackeyAnthony L CookAnne SenabouthGuei-Sheung LiuJamie E CraigStuart MacGregorJoseph E PowellAlex W HewittPublished in: Human molecular genetics (2024)
High-throughput analysis of cellular structure and function through multiplex fluorescent single-cell analysis and scRNA-seq assays enabled the direct study of genetic perturbations at the single-cell resolution. This work provides a framework for investigating the role of genes in the pathogenesis of glaucoma and heterogenous diseases with a strong genetic basis.