WES
Science & Engineering abbreviation · Genetics
| Stands for | Whole-exome sequencing |
|---|---|
| Categories | Science & Engineering |
WES stands for Whole-exome sequencing, a genetics abbreviation.
Sequencing of the exome, the roughly 1-2% of the genome that codes for proteins, covering about 20,000 genes. Because most known disease-causing mutations lie in coding regions, WES is a cost-effective first test for rare genetic disorders.
Example: WES of the child and both parents revealed a new mutation not present in either parent.
Usage notes
Exome capture uses probes to pull protein-coding fragments out of the genome before sequencing. Diagnostic yield for suspected genetic disorders is often reported around 25-40%, depending on the patient group. As WGS costs fall, many labs are moving from exome to genome sequencing.
Related abbreviations
More genetics abbreviations
- AD – Autosomal dominant
- AR – Autosomal recessive
- atDNA – Autosomal DNA
- BAC – Bacterial artificial chromosome
- BLAST – Basic Local Alignment Search Tool
- bp – Base pair
- cDNA – Complementary DNA
- ChIP-seq – Chromatin immunoprecipitation sequencing
- cM – Centimorgan
- CNV – Copy-number variation
- CpG – Cytosine-phosphate-guanine (site)
- dsDNA – Double-stranded DNA