WES
Also written as: WES — whole exome sequencing
Whole exome sequencing that analyzes all protein-coding regions of the genome to identify cancer-related mutations.
Full Definition
Whole exome sequencing (WES) is a genomic technique that selectively sequences the exonic regions of the genome, which represent approximately 1-2% of the total genome but contain roughly 85% of known disease-causing variants. In cancer genomics, WES is used to identify somatic and germline mutations in protein-coding genes that may contribute to tumorigenesis, treatment response, or hereditary cancer predisposition. This approach provides comprehensive coverage of coding regions at a lower cost than whole genome sequencing, making it an attractive option for clinical applications. WES typically achieves high depth of coverage across targeted regions, enabling detection of low-frequency variants and copy number alterations in exonic sequences.
Usage
Usage note: Always spell out on first use in patient-facing documents.
In Context
- "WES identified several novel mutations in DNA repair genes." — Research manuscript
- "The laboratory offers WES as part of their hereditary cancer testing panel." — Clinical service description