Understanding Whole Exome Sequencing for Disease Diagnosis

Bioaro15 Oct, 2024Health

Whole Exome Sequencing is a genetic sequencing technique that specifically targets the exome, which consists of the exons, or coding regions, of the genome. These exons make up about 1-2% of the entire genome, yet they are responsible for producing most of the body’s proteins and are the primary site for disease-causing mutations. By focusing on the exome, WES offers a cost-effective way to identify genetic variations that may lead to diseases, without the need to sequence the entire genome.