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Whole Exome Sequencing: A Strategic, Cost-Effective, and High-Throughput Genomic Tool for Rapidly Identifying Causal Coding Variants in Inherited Rare Diseases, Undiagnosed Disorders, and Cancer Research
Whole Exome Sequencing (WES) is a widely adopted Next-Generation Sequencing (NGS) technique that focuses on sequencing the protein-coding regions of the genome, known as the exome, which constitutes less than 2% of the total genetic material but harbors approximately 85% of known disease-causing mutations. By focusing only on these functional regions, WES offers a more cost-effective and streamlined approach than whole-genome sequencing (WGS), making it particularly valuable in clinical diagnostics and for the rapid identification of de novo or rare variants linked to Mendelian and complex diseases.









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