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Article

Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.

Investigative ophthalmology & visual science - 1 Aug 2025

Chaar Dima L, Jiang Chen, Coomson Sarah Y, Duot Matthieu, Sangani Poorab, Hoffmann Thomas J, Jorgenson Eric, Hufnagel Robert B, Hysi Pirro, Lachke Salil A, Choquet Hélène

Abstract excerpt

Purpose: To identify novel candidates for cataract and evaluate the contribution of protein-coding variants to cataract susceptibility. Methods: We first leveraged a publicly-available browser, Genebass, to extract significant gene-based and single-variant association results for cataract in UK Biobank exomes (30,550 cataract cases and 364,291 controls). We then validated findings using genome-wide association...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40801674
DOI: 10.1167/iovs.66.11.32
PMCID: PMC12366868

Genes

COL2A1
HERC2
KDM5B
MIP
ZNF800
BFSP2
CPAMD8
CRYBB2
TSPAN10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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