Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance

Abstract

NGS (Next-generation sequencing) has emerged as the primary approach for gene finding in uncommon hereditary disorders. Targeted gene panels, whole genome sequencing (WGS), and whole exome sequencing (WES) are uses of next-generation sequencing and other related technologies. It is possible to explain personal or individual genome sequencing using NGS technology, as well as to detect disease-causing mutations using NGS findings. NGS, deep sequencing or massively parallel are similar words that describe a method of DNA sequencing leading to revolutionary change in genomic research. Due to its cost-effectiveness, Whole-Exome sequencing (WES) using Next-Generation Sequencing (NGS) is becoming increasingly popular in the field of human genetics. As a diagnostic tool, this technology can reduce the duration of the diagnostic process for several patients and has mostly made a significant contribution to the identification of new genes responsible for causing diseases. Considering the diverse range of phenotypic presentations of the diagnosis, NGS has the potential to uncover causative mutations, including de novo, new, and familial variants, related to epileptic syndromes and significantly enhance molecular diagnosis. The present study centres on the potential applications of next-generation exome sequencing in clinical diagnostics and the challenges encountered in the data processing of such data.

Keywords: Diagnostic; genomic-medicine; next-generation sequencing; variants detection; whole-exome sequencing..