Article
Optimizing next-generation sequencing for genetic diagnosis in autosomal dominant polycystic kidney disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2026
Ma Deqiong, Cho Soyoung, Meng Xinmiao, Gulati Ashima, Knight James, Goralsky Lauren, Peng Gang, Shaw Melissa M, Widomski Alex, Popa Andreea, Zhao Chen, Dykas Dan, Tikhonova Irina, Bale Allen, Somlo Stefan, Zhang Hui, Besse Whitney
Abstract excerpt
PURPOSE: Autosomal dominant polycystic kidney disease (ADPKD) affects 1:1000, causing 5% to 10% of kidney failure. The primary disease gene, PKD1, has 6 pseudogenes with 97% to 99% homology, a >12-kb transcript, high GC content, and polypyrimidine tracts. Although long-range polymerase chain reaction with Sanger sequencing has been the "gold-standard," next-generation sequencing (NGS) is increasingly used....
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