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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-05-01
coleção:	Mobile DNA
Assuntos:	Alu insertion CNV EYS Inherited retinal diseases Long-read sequencing Nanopore sequencing
Acesso em linha:	https://doi.org/10.1186/s13100-024-00320-1
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