Whole Exome Sequencing (WES)

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Whole Exome Sequencing (WES) is a targeted sequencing approach that focuses on sequencing the protein-coding regions of the genome, known as the exome. The exome comprises the exons, which are the coding regions of genes, and represents only a small fraction (about 1-2%) of the entire genome. Despite this, the exome contains most known disease-causing mutations, making WES a cost-effective alternative to Whole Genome Sequencing (WGS) for many applications. WES is widely used in both clinical and research settings. In clinical genetics, it is employed for diagnosing genetic disorders, identifying causative mutations, and understanding the genetic basis of rare diseases. In research, WES is valuable for studying the genetics of complex traits and diseases.