Next-generation sequencing (NGS) is one of the most promising technologies that have truly revolutionized many aspects of clinical practice in recent years. It has been and is increasingly applied in many disciplines of medicine; however, it seems that pediatric neurosurgery despite its great potential has not truly embraced this new technology and is hesitant to use it in routine practice and guidelines. In this review, we summarize the developments that led to the establishment of NGS technology, review the applications and potentials of NGS in the disorders treated by pediatric neurosurgeons, and discuss the steps that we need to be taken to better harness NGS in pediatric neurosurgery.
Keywords: Craniosynostosis; Epilepsy; Hydrocephalus; NGS; Next-generation sequencing; Pediatric neurosurgery; WES; Whole-exome sequencing.
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