Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
Dechao Xu,
Aiping Mao,
Libao Chen
et al.
Abstract:Background
Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by heterogeneous variants in the PKD1 and PKD2 genes. Genetic analysis of PKD1 has been challenging due to homology with 6 PKD1 pseudogenes and high GC content.
Methods
A single-tube multiplex long-range-PCR and long-read sequencing-based assay termed “comprehensive analysis of ADPKD” (CAPKD) was developed and evaluated in 170 unrelated patients … Show more
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