Gene Wars: Episode V. The clinician strikes back

Abstract

The advent of next generation sequencing (NGS) and its application to clinical practice will have a huge impact on our approach to the diagnosis of inherited myopathies. Exome sequencing will be much quicker and cheaper than our past practice of sequencing candidate genes one by one …however the reality is that genome-wide sequencing of individual families will yield a tsunami of genetic variants in multiple different genes that need to be tested and validated as the possible disease-causing mutations. This will be particularly true for large and repetitive genes such as nebulin, titin and RYR1. A number of additional factors complicate reaching a specific genetic diagnosis for congenital my..