Article

Massively parallel sequencing, otherwise known as high-throughput or
next-generation sequencing, is rapidly gaining wide use in clinical practice due
to possibility of simultaneous exploration of multiple genomic regions. More than
300 genes have been implicated in neuromuscular disorders, meaning that many
genes need to be considered in a differential diagnosis for a patient affected
with myopathy. By providing sequencing information for numerous genes at the same
time, massively parallel sequencing greatly accelerates the diagnostic processes
of myopathies compared to the classical "gene-after-gene" approach by Sanger
sequencing. In this review, we describe multiple advantages of this powerful
sequencing method for applications in myopathy diagnosis. We also outline recent
studies that used this approach to discover new myopathy-causing genes and to
diagnose cohorts of patients with muscular disorders. Finally, we highlight the
key aspects and limitations of massively parallel sequencing that a neurologist
considering this test needs to know in order to interpret the results of the test
and to deal with other issues concerning the test.
CI - Copyright (c) 2015 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS