Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy

Abstract excerpt

Objective: Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques. Methods: Exome-based epilepsy panel tests, clinical exome sequencing (CES), and whole exome sequencing (WES) were conducted on 259...

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