Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing

A genetic diagnosis of autosomal‐dominant polycystic kidney disease (ADPKD) is challenging due to allelic heterogeneity, high GC content, and homology of the PKD1 gene with six pseudogenes. Short‐read next‐generation sequencing approaches, such as whole‐genome sequencing and whole‐exome sequencing,...

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Detalles Bibliográficos
Autores principales: Borràs, Daniel M., Vossen, Rolf H. A. M., Liem, Michael, Buermans, Henk P. J., Dauwerse, Hans, van Heusden, Dave, Gansevoort, Ron T., den Dunnen, Johan T., Janssen, Bart, Peters, Dorien J. M., Losekoot, Monique, Anvar, Seyed Yahya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488171/
https://www.ncbi.nlm.nih.gov/pubmed/28378423
http://dx.doi.org/10.1002/humu.23223

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