Article
Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole‑exome sequencing.
Molecular medicine reports - 1 Dec 2022
Koay Bee Tee, Chiow Mei Yee, Ismail Jamiila, Fahmy Norfarhana Khairul, Yee Seow Yeing, Mustafa Norhazlin, Arip Masita, Ripen Adiratna Mat, Mohamad Saharuddin Bin
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of inherited cystic kidney disease. The feasibility of whole‑exome sequencing (WES) to obtain molecular diagnosis of ADPKD is still in question as previous studies showed conflicting results. Utilizing WES on a patient with ADPKD, standard bioinformatics pipeline demonstrated no pathogenic variant in the genes of interest. By visualizing...
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