Whole Exome Sequencing

Whole exome sequencing (WES) is a genomic technique that focuses on sequencing the exome, which refers to the protein-coding regions of the genome. The exome represents only a small fraction (about 1-2%) of the entire genome but contains the majority of disease-causing variants.  Whole exome sequencing has been widely adopted in both research and clinical settings. It allows for the identification of genetic variants associated with a wide range of conditions, including rare genetic disorders, neurodevelopmental disorders, cancer predisposition, and other inherited diseases.