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The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

Background: Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice. In the investigation of inherited cystic kidney disease and renal ciliopathy syndromes, WES has been extensively applied in research studies as well as for diagnostic utility to detect various nove...

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Detalles Bibliográficos
Autores principales:	Al Alawi, Intisar, Al Riyami, Mohammed, Barroso-Gil, Miguel, Powell, Laura, Olinger, Eric, Al Salmi, Issa, Sayer, John A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000 Research Limited 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290205/ https://www.ncbi.nlm.nih.gov/pubmed/34354814 http://dx.doi.org/10.12688/f1000research.40338.2

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