Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability

摘要

Next-generation sequencing (NGS) technologies are massively parallel DNA sequencing methods that allow faster and cheaper sequencing of nucleotides than does Sanger sequencing [ ]. With the advent of NGS, nucleotide sequencing has found applications in the diagnosis of pediatric neurological disorders such as muscle disease, epilepsy, neurodegenerative disease, neurometabolic disease, and autism spectrum disorder [ - ]. In recent years, several studies on the genetic diagnosis of unexplained global developmental delay (DD) and intellectual disability (ID) have been published [ - ]. Global DD and ID have a high prevalence, affecting 1%–3% of children [ ]. The diversity of phenotypical and genetical heterogeneity leads to a low diagnostic yield and insufficient clinical management [ ].