Article
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Human mutation - 1 Jul 2017
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
Abstract excerpt
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, often fail at reliably characterizing complex regions such as PKD1. However, long-read single-molecule sequencing...
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