New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines

Abstract Variants affecting pre-mRNA splicing mechanisms are responsible for multiple monogenic disorders. However, their prioritization and interpretation remain challenging. Herein, we designed a strategy for the identification of likely spliceogenic variants in unsolved inherited retinal dystroph...

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Main Authors: Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Alejandro García-Nuñez, Nereida Bravo-Gil, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00500-9
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https://doi.org/10.1038/s41525-025-00500-9

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