Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

Abstract Background Biallelic variants in EYS are the major cause of autosomal recessive retinitis pigmentosa (arRP) in certain populations, a clinically and genetically heterogeneous disease that may lead to legal blindness. EYS is one of the largest genes (~ 2 Mb) expressed in the retina, in which...

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Autors principals:	Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Belén de la Morena-Barrio, Javier Corral, Salud Borrego, Guillermo Antiñolo
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-05-01
Col·lecció:	Mobile DNA
Matèries:	Alu insertion CNV EYS Inherited retinal diseases Long-read sequencing Nanopore sequencing
Accés en línia:	https://doi.org/10.1186/s13100-024-00320-1
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