Article
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Genes - 9 Feb 2023
Hussain Hafiz Muhammad Jafar, Wang Meng, Huang Austin, Schmidt Ryan, Qian Xinye, Yang Paul, Marra Molly, Li Yumei, Pennesi Mark E, Chen Rui
Abstract excerpt
Inherited retinal diseases (IRDs) are a diverse set of visual disorders that collectively represent a major cause of early-onset blindness. With the reduction in sequencing costs in recent years, whole-genome sequencing (WGS) is being used more frequently, particularly when targeted gene panels and whole-exome sequencing (WES) fail to detect pathogenic mutations in patients. In this study, we performed mutation...
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