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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Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2017
Soggetti:
Methods
Accesso online: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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