Whole-Exome Sequencing (WES)

Whole-Exome Sequencing (WES) Latest News

Scientists recently used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease.

About Whole-Exome Sequencing (WES)

• WES is the approach used to sequence only the protein-coding regions of the human genome. 
• These protein-coding regions within the genome are known as exons, and they make up less than 2% of our entire genome, but they are very important because they contain about 85% of the genetic variants linked to different diseases.
• Together, all the exons in a genome are known as the exome.
• WES focuses on the exome and provides a more targeted approach compared to whole-genome sequencing (WGS), which sequences the entire genome, including non-coding regions. 
• Since most disease-related mutations are found in the exome, this makes WES an effective tool for diagnosing genetic conditions and understanding disease mechanisms. 
• WES is a faster and cost-effective alternative to WGS. It also simplifies the data analysis process.
• WES is especially useful in research and clinical settings to identify both common and rare genetic variants.

Source: NM

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