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Article

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.

HGG advances - 18 Jul 2024

Zeuli Roberta, Karali Marianthi, de Bruijn Suzanne E, Rodenburg Kim, Scarpato Margherita, Capasso Dalila, Astuti Galuh D N, Gilissen Christian, Rodríguez-Hidalgo María, Ruiz-Ederra Javier, Testa Francesco, Simonelli Francesca, Cremers Frans P M, Banfi Sandro, Roosing Susanne

Abstract excerpt

Inherited retinal diseases (IRDs) are a group of rare monogenic diseases with high genetic heterogeneity (pathogenic variants identified in over 280 causative genes). The genetic diagnostic rate for IRDs is around 60%, mainly thanks to the routine application of next-generation sequencing (NGS) approaches such as extensive gene panels or whole exome analyses. Whole-genome sequencing (WGS) has been reported to...

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Identifiers

PMID: 38816995
DOI: 10.1016/j.xhgg.2024.100314
PMCID: PMC11225895

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