Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases

Technological advances in next-generation DNA sequencing now allow fast and cost-effective sequencing of the ‘exome’, defined as all the exons in the genome. Such is the rapidity and accessibility of this technique that whole exome sequencing (WES) is becoming a first-line diagnostic tool for the investigation of many diseases, including cancers, metabolic disorders, and childhood neurodevelopmental di sorders.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: nephrology digest Source Type: research