What Is Whole Exome Sequencing?

As a complex and multi-faceted set of diseases, cancer can’t be understood or addressed with one-size-fits-all methods. Cancer is a genetic disease and understanding the mutations that underpin the development and progression of an individual’s cancer requires a personalized approach known as precision medicine. Driving this approach are advanced Next Generation Sequencing (NGS) technologies and techniques that allow for comprehensive and cost-effective testing of individual genetic profiles. Whole exome sequencing (WES) is one such technique that is commonly used to uncover risk factors for developing cancer as well as cancer biomarkers that might be targetable with specific therapeutic options.

The Benefits of Whole Exome Sequencing

While whole genome sequencing, which involves mapping all 3.2 billion base pairs of the human genome, is possible, it is not commonly utilized in cancer care. This is because, despite technological advancements, whole genome sequencing remains a cost-, time-, and storage-intensive process that is rarely practical in clinical applications.

Whole exome sequencing, on the other hand, involves mapping only 1-2% of the genome known as the exome. Made up of individual segments called exons, the exome is the portion of DNA that is responsible for providing instructions for cellular processes, making it the “coding” portion of DNA. Because it is estimated that approximately 85% of disease-causing genetic mutations occur in the exome, WES can provide rich insights into the specific biomarkers that drive cancer development.

When compared to whole genome sequencing, WES offers several advantages. Beyond providing comprehensive coverage of the exome, where most cancer-causing mutations originate, WES is more cost-effective and allows for more efficient analysis, as it produces a much more manageable dataset.

As an oncology-focused bioinformatics company, M2GEN pairs data from a range of NGS techniques, including WES, with longitudinal clinical data to provide researchers with a comprehensive picture of the cancer landscape and actionable insights. Contact ustoday to learn more about our bioinformatics tools and services.

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