Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Abstract Background Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inherited blindness. Despite the large number of genes identified, only ~ 60% of cases receive a genetic diagnosis using targeted-sequencing. The aim of this study was to design a who...

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Bibliographic Details
Main Authors: María González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Journal of Translational Medicine
Subjects:
Retinitis Pigmentosa
Inherited retinal dystrophies
WGS
USH2A
ADGRV1
PDZD7
Online Access:https://doi.org/10.1186/s12967-020-02258-3

Internet

https://doi.org/10.1186/s12967-020-02258-3

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