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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. However, long-read single-molecule sequencing has been shown to be a reliable alternative strategy that could overcome PKD1 complexities. Using long-read sequencing to characterize a cohort of 19 patients with ADPKD, we developed an approach that provided high sensitivity in identifying PKD1 pathogenic variants, with a diagnostic yield of 94.7%. Reliable screening of ADPKD patients in a single test without interference of PKD1 homologous sequences is now possible.

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Dataset ID Description Technology Samples
EGAD00001003103 PacBio RS II 19
Publications Citations
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Hum Mutat 38: 2017 870-879