Exome sequencing study of 20 patients with high myopia

• Published in: PeerJ (San Francisco, CA) Vol. 6; p. e5552
• Main Authors: Wan, Ling, Deng, Boling, Wu, Zhengzheng, Chen, Xiaoming
• Format: Journal Article
• Language: English
• Published: United States PeerJ, Inc 17.09.2018; PeerJ Inc
• Subjects: Bioinformatics; Computational Biology; Computer programs; Data analysis; Disease; Gene expression; Genetic screening; Genetics; Genomes; Genomics; GO and FI network enrichment; Haplotypes; High myopia; Hospitals; Human subjects; Mutation; Myopia; Pathway enrichment; Phenotypes; QTL; Science; Software; Studies; Translational Medicine; USH2A protein; Visual perception; Whole exome sequencing; Beijing China; United States > US; China; GO and FI network enrichment; Pathway enrichment; Whole exome sequencing; Genomics; QTL; High myopia; Bioinformatics

High myopia is a common ocular disease worldwide. To expand our current understanding of the genetic basis of high myopia, we carried out a whole exome sequencing (WES) study to identify potential causal gene mutations. A total of 20 individuals with high myopia were exome sequenced. A novel filteri...