Impact of Next-Generation Whole-Exome sequencing in molecular diagnostics

Abstract

Next-Generation Sequencing technology provides remarkable opportunities to characterize personal or individual genome sequencing and to identifying mutations relevant for disease diagnosis and therapy. The Whole-Exome sequencing using Next-Generation Sequencing (NGS) is promoting popularity in the human genetics community due to the reasonable costs, feasible data quantity and forthright interpretation of analysis results. This review discusses methods and the challenges in the analysis of NGS data and their potential applications in clinical diagnosis in the Next-Generation Exome sequencing.