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Article

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Investigative ophthalmology & visual science - 1 Jun 2022

Tian Lu, Chen Chunjie, Song Yuning, Zhang Xiaohui, Xu Ke, Xie Yue, Jin Zi-Bing, Li Yang

Abstract excerpt

Purpose: To identify the missing heritability of ABCA4-related retinopathy in a Chinese cohort. Methods: We recruited 33 unrelated patients with ABCA4-related retinopathy carrying a monoallelic variant in ABCA4. All patients underwent ophthalmic examinations. Next-generation sequencing of the whole ABCA4 sequence, including coding and noncoding regions, was performed to detect deep intronic variants (DIVs) and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35657619
DOI: 10.1167/iovs.63.6.5
PMCID: PMC9185996

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