Whole Exome Sequencing (WES)
*Abstract - Whole Exome Sequencing (WES) is a targeted next-generation sequencing (NGS) approach that focuses on the protein-coding regions of the genome, comprising approximately 1–2% of the human genome but accounting for an estimated 85% of disease-causing variants. By enriching and sequencing exonic regions, WES offers a cost-effective strategy to identify variants with potential clinical relevance. This document provides a comprehensive 3,000-word overview of WES, encompassing its history, technical workflow, bioinformatics analysis, clinical and research applications, limitations, ethical considerations, and future directions. 1. Introduction The completion of the Human Genome Project in 2003 ushered in an era of genomic medicine, yet the prohibitive cost and scale of whole-genome sequencing (WGS) limited routine clinical adoption. Whole Exome Sequencing (WES), first described in 2009, strategically targets the approximately 30 million base pairs of coding sequence—reg...