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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.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

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
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