Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Aims: We aimed to validate the pathogenicity of genetic variants identified in inherited retinal dystrophy (IRD) patients, which were located in non-canonical splice sites (NCSS). Methods: After next generation sequencing (NGS) analysis (target gene panels or whole exome sequencing (WES)), NCSS vari...

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Bibliographic Details
Main Authors: Vasileios Toulis, Vianney Cortés-González, Marta de Castro-Miró, Juliana Ferraz Sallum, Jaume Català-Mora, Cristina Villanueva-Mendoza, Marcela Ciccioli, Roser Gonzàlez-Duarte, Rebeca Valero, Gemma Marfany
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Genes
Subjects:
inherited retinal dystrophies
non-canonical splice sites
aberrant splicing
minigenes
Online Access:https://www.mdpi.com/2073-4425/11/4/378

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https://www.mdpi.com/2073-4425/11/4/378

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