Potential and pitfalls in the genetic diagnosis of kidney diseases.

ABSTRACT: Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier. The article by Ars and Torra in this issue of the Clinical Kidney Journal provides examples of the ever-increasing ability to understand a given patient's disease on the molecular level, so that in some cases not only the causative variants in a disease gene are identified, but also potential modifiers in other genes. Yet, with increased sequencing, a large number of variants are discovered that are difficult to interpret. These so-called 'variants of uncertain significance' raise important questions: when and how can pathogenicity be clearly attribute

SUBMITTER: Kesselheim A 

PROVIDER: S-EPMC5622903 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature