TY  - JOUR
AU  - Gonzalez-Del Pozo, Maria
AU  - Fernandez-Suarez, Elena
AU  - Bravo-Gil, Nereida
AU  - Mendez-Vidal, Cristina
AU  - Martin-Sanchez, Marta
AU  - Rodriguez-de la Rua, Enrique
AU  - Ramos-Jimenez, Manuel
AU  - Morillo-Sanchez, Maria Jose
AU  - Borrego, Salud
AU  - Antiñolo, Guillermo
PY  - 2022
DO  - 10.1038/s41525-022-00286-0
UR  - http://hdl.handle.net/10668/19552
T2  - NPJ genomic medicine
AB  - 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...
LA  - en
PB  - Nature Publishing Group
KW  - Genetics research
KW  - Hereditary eye disease
KW  - Retinal diseases
KW  - Translational research
KW  - Humans
KW  - Precision Medicine
KW  - Workflow
KW  - Virulence
KW  - Retinitis Pigmentosa
KW  - Retina
KW  - Retinal Dystrophies
KW  - Whole Genome Sequencing
KW  - Genetic Predisposition to Disease
TI  - A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
TY  - research article
VL  - 7
ER  -