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Glaucoma Awareness: Recent Genomic Insights

January is Glaucoma Awareness Month - Get facts about glaucoma and a dilated eye exam if you’re at higher risk, information from the U.S. Surgeon General ‏

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB, et al. Genetics in Medicine, November 2014

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Springelkamp H, et al. Nat Commun. 2014 Sep 22;5:4883.

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Hysi PG, et al. Nat Genet. 2014 Oct;46(10):1126-30

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Liu Y, et al. Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8251-8

Genome-wide genetic interaction analysis of glaucoma using expert knowledge derived from human phenotype networks.  [PDF 820.92 KB]
Ting Hu et al. PSB 2015 meeting proceedings 

Check out our Glaucoma update page for additional links and information