NextGenerationSequencing

Next-Generation Sequencing, including whole-exome sequencing (WES), and whole-genome sequencing (WGS), promises in-depth coverage of the exome/genome with improved coverage of rare variants. WES involves sequencing all exons, the coding proportion of the genes, which make up about 1% of the genome and where presumably most disease-causing variants lie. This technique has led to the identification of several single gene mutations leading to kidney diseaseand a deeper understanding of disease pathogenesis.