A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis pipelines. Herein, we aimed to define a WGS-based algorithm for the accurate interpretation of variants in inherited retinal dystrophies (IRD). This study comprised 429 phenot...

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Detalles Bibliográficos
Autores principales: González-del Pozo, María, Fernández-Suárez, Elena, Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Rodríguez-de la Rúa, Enrique, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Borrego, Salud, Antiñolo, Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897414/
https://www.ncbi.nlm.nih.gov/pubmed/35246562
http://dx.doi.org/10.1038/s41525-022-00286-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897414/
https://www.ncbi.nlm.nih.gov/pubmed/35246562
http://dx.doi.org/10.1038/s41525-022-00286-0

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