A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
The management of unsolved inherited retinal dystrophies (IRD) cases is challenging since no standard pipelines have been established. This study aimed to define a diagnostic algorithm useful for the diagnostic routine and to address unsolved cases. Here, we applied a Next-Generation Sequencing-base...
Main Authors: | Marta Martín-Sánchez, Nereida Bravo-Gil, María González-del Pozo, Cristina Méndez-Vidal, Elena Fernández-Suárez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-12-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/21/24/9355 |
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