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Whole exome sequencing for cancer research


Genetic mutations are more likely to impact health outcomes when they occur in protein-coding genes. Exons that make up the protein-coding genes comprise 1% of the human genome, so focusing sequencing on this portion of the genome is more cost-effective than whole genome sequencing and will provide more comprehensive data than other sequencing methods. This approach can fast-track research in areas such as cancer genomics, which will benefit from the identification of novel biomarkers.

What is whole exome sequencing?

Identifying the DNA sequence of all the protein-coding genes in a genome is called whole exome sequencing (WES). This is a targeted next generation sequencing method using hybridization capture. This next generation sequencing approach uses parallel sequencing, providing a faster turnaround time than Sanger sequencing or shotgun sequencing. Exome sequencing panels can be expanded to include noncoding genes and other genetic elements that are relevant to cancer.

What can whole exome sequencing do?

WES reveals mutations in disease-associated genes. Therefore, it could:

  • Identify patient groups at higher risk for certain cancers
  • Provide a clearer picture of genetic abnormalities that effect tumor progression, such as microsatellite instability
  • Identify heritable mutations

Benefits of whole exome sequencing for cancer research

Using NGS technology gives researchers more comprehensive data and more discovery power than can be achieved through PCR. In cancer research, comprehensive data is used for tumor profiling. Deeper sequencing enables more accurate somatic mutation identification WES also provides the opportunity for greater discovery power for revealing heritable mutations compared to PCR. WES is provided at a lower cost with a faster analysis time than whole genome sequencing (WGS). WES using NGS also has a faster turnaround time than other types of sequencing like Sanger or shotgun sequencing.


Exome sequencing is a type of targeted next generation sequencing. After genomic material is extracted from the sample, sequencing libraries must be prepared. Library prep includes hybridization capture with core reagents and the addition of adapters to identify the samples or molecules in the sample and to allow the DNA to interact with the sequencing system. Exome sequencing specifically enriches or captures the exome before the sequencing step.

The IDT advantage

IDT offers library preparation, adapters, hybridization capture and enrichment panels for cancer exome sequencing. Streamlined library prep workflows and flexible kit configurations accommodate multiple study designs. The enrichment panels are comprised of individually synthesized and quality controlled xGen biotinylated hybridization probes, so custom content can be added to the exome panel to fit specific research needs, such as detecting important events like gene fusions. Discovery research and prototyping can be performed using xGen™ Custom Hyb Panels-Accel , which are fast and cost-effective. Once you finalize your design, you can use xGen Custom Hyb Panels-Production to create a custom panel for long-term studies using a single manufacturing lot for superior consistency. These kits are compatible with lllumina sequencing systems. 


Working in an area that would benefit from exome sequencing? Just starting? See how you can easily improve your workflows and results.

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