Article
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
PloS one - 1 Jan 2016
de Castro-Miró Marta, Tonda Raul, Escudero-Ferruz Paula, Andrés Rosa, Mayor-Lorenzo Andrés, Castro Joaquín, Ciccioli Marcela, Hidalgo Daniel A, Rodríguez-Ezcurra Juan José, Farrando Jorge, Pérez-Santonja Juan J, Cormand Bru, Marfany Gemma, Gonzàlez-Duarte Roser
Abstract excerpt
BACKGROUND: NGS-based genetic diagnosis has completely revolutionized the human genetics field. In this study, we have aimed to identify new genes and mutations by Whole Exome Sequencing (WES) responsible for inherited retinal dystrophies (IRD). METHODS: A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. Initial prioritization analysis included around 300 IRD-associated...
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