NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

0

Next generation sequencing (NGS) has been currently known for efficient diagnostic method for diagnosing genetic disorders, including neuromuscular disorders. But, we could have a difficulty in diagnosing neuromuscular disorders, which have clinical and genetic heterogeneity. With this study, we aimed to evaluate the diagnostic yield of current targeted NGS using our customized gene panel. We developed targeted gene panels including 172 candidate genes for neuropathy panel and 213 candidate genes for muscular disorder panel.

Read More...

Leave A Reply