In silico versus functional characterization of genetic variants: lessons from muscle channelopathies.

Abstract excerpt

Accurate determination of the pathogenicity of missense genetic variants of uncertain significance is a huge challenge for implementing genetic data in clinical practice. In silico predictive tools are used to score variants' pathogenicity. However, their value in clinical settings is often unclear, as they have not usually been validated against robust functional assays. We compared nine widely used in silico...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiac electrophysiology and arrhythmias
• Share to Channelopathies