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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
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Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5488171/
https://ncbi.nlm.nih.gov/pubmed/28378423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23223
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