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,...

詳細記述

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書誌詳細
出版年:Hum Mutat
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
Methods
オンライン･アクセス: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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