Article
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Human molecular genetics - 29 Jul 2020
Ratnapriya Rinki, Acar İlhan E, Geerlings Maartje J, Branham Kari, Kwong Alan, Saksens Nicole T M, Pauper Marc, Corominas Jordi, Kwicklis Madeline, Zipprer David, Starostik Margaret R, Othman Mohammad, Yashar Beverly, Abecasis Goncalo R, Chew Emily Y, Ferrington Deborah A, Hoyng Carel B, Swaroop Anand, den Hollander Anneke I
Abstract excerpt
Genome-wide association studies (GWAS) have identified 52 independent variants at 34 genetic loci that are associated with age-related macular degeneration (AMD), the most common cause of incurable vision loss in the elderly worldwide. However, causal genes at the majority of these loci remain unknown. In this study, we performed whole exome sequencing of 264 individuals from 63 multiplex families with AMD and...
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