Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu · 2026
Read Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases by Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13397823.txt.
Description
Jianqing Li and a large team scan the protein-coding genome for genes that shape the retina and its diseases. Their 2026 study uses whole-exome data from 356,982 UK Biobank participants. The retina is a reachable outpost of the brain, yet the coding variants behind its structure, its function and its blinding diseases were only sketchily known.
Gene-level tests of rare variants found 22 strong links across 16 genes, 12 of them new, with most backed in a second cohort of 245,388 people. Common variant scans added 243 independent signals in 126 genes. Three genes (CFI, C3 and RIOX1) touched structure, function and disease alike, and a new gene, FYB2, was picked for lab follow-up.
Catalog record
| CREATOR | Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 65 KB |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |