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Article

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Human molecular genetics - 5 Jun 2023

Wen Shu, Wang Meng, Qian Xinye, Li Yumei, Wang Keqing, Choi Jongsu, Pennesi Mark E, Yang Paul, Marra Molly, Koenekoop Robert K, Lopez Irma, Matynia Anna, Gorin Michael, Sui Ruifang, Yao Fengxia, Goetz Kerry, Porto Fernanda Belga Ottoni, Chen Rui

Abstract excerpt

Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, we aimed to investigate the contributions of structural variants (SVs) to settling the molecular diagnosis of IRD with whole-genome sequencing (WGS). A cohort of 755...

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Identifiers

PMID: 36811936
DOI: 10.1093/hmg/ddad032
PMCID: PMC10244226

Genes

CLN3
EYS
PRPF31

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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