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The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.

American journal of ophthalmology - 1 May 2023

Britten-Jones Alexis Ceecee, Gocuk Sena A, Goh Kai Lyn, Huq Aamira, Edwards Thomas L, Ayton Lauren N

Abstract excerpt

PURPOSE: Accurate genotyping of individuals with inherited retinal diseases (IRD) is essential for patient management and identifying suitable candidates for gene therapies. This study evaluated the diagnostic yield of next generation sequencing (NGS) in IRDs. DESIGN: Systematic review and meta-analysis. METHODS: This systematic review was prospectively registered (CRD42021293619). Ovid MEDLINE and Ovid Embase...

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PMID: 36592879
DOI: 10.1016/j.ajo.2022.12.027

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