More than 30 causative genes have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS). The next‐generation sequencing (NGS) is a powerful and groundbreaking tool to identify disease‐associated variants.… Click to show full abstract
More than 30 causative genes have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS). The next‐generation sequencing (NGS) is a powerful and groundbreaking tool to identify disease‐associated variants. Despite documented advantages of NGS, its diagnostic reliability needs to be addressed in order to use this technology for specific routine diagnosis.
               
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