Next Generation Sequencing and Kidney Disease: The New Era
The decreased cost and increased speed of sequencing has made it possible to use large-scale genomic analysis as a clinical tool. Most of the known diseases–causing mutations occur in exons, which are the coding sequences for functional proteins. This sequencing has facilitated an accurate diagnosis in individuals with disorders that present with atypical manifestations, which are difficult to confirm using clinical or laboratory criteria alone or otherwise require extensive or costly evaluation. Next generation sequencing (NGS) not only enables the detection of new genes and single-nucleotide polymorphisms (SNPs), which have important roles in human disease, but also provides a variety of information about what kinds of functions are associated with genes in these conditions. Genome and exome sequencing is currently indicated for the detection of rare variants in patients with a phenotype suspected to be due to a mendelian (single gene) genetic disorder.
The NGS technology area has helped to discover new genes in a great number of kidney diseases: in autosomal recessive childhood steroid resistant nephrotic syndrome, genes MYO1E (encoding Myosin 1E), CUBN (cubilin), and ARHGDIA (RhoGDI alpha) have been identified [1-3] and variants were found in known or news genes , adding to the already listed mutations.
Cite this article: C Muller. Next Generation Sequencing and Kidney Disease: The New Era. J J Nephro Urol. 2014, 1(1): 003.