Cancer Whole-Exome Sequencing

connections bring meaning to cancer testing

Identifying coding mutations in cancer

Sequencing the cancer exome provides valuable information about the coding mutations contributing to tumor progression. Because the exome represents less than 2% of the genome, cancer whole-exome sequencing (WES) using next-generation sequencing (NGS) technology is a cost-effective alternative to whole-genome sequencing (WGS). Cancer exome sequencing also produces a more manageable data set compared to whole-genome approaches.

connections bring meaning to cancer testing

Key benefits of cancer exome sequencing

  • Identifies cancer variants across a wide range of applications
  • Offers a cost-effective alternative to whole-genome sequencing
  • Enables deep sequencing of coding regions of the genome to detect rare cancer-associated variants
  • Generates a more manageable data set for easier analysis than WGS data

Potential applications of WES in cancer research

Biomarker discovery

Cancer researchers can use WES and RNA sequencing to uncover tumor-associated gene expression profiles.

Capturing variant data from blood

Discovering genetic variants in blood samples using WES is minimally invasive and may help researchers capture predictive or diagnostic cancer biomarkers.

Informing research into cancer susceptibility

Research into factors associated with cancer susceptibility and early incidence is vital for future translational insights and targetable genes or pathways.

Learn more about WES

View more cancer research applications

Tumor exomes reveal new insights into cancer biology

Learn how researchers in Italy perform cancer WES from tumor biopsy samples to better understand the genetic underpinnings of tumor onset and progression, identify biomarkers, and predict response to therapeutic interventions.

Read article

Related sequencing methods

Cancer whole-genome sequencing

Discover novel features and benefits with whole-genome sequencing for cancer research.

Cancer RNA sequencing

See how RNA-Seq can reveal information about cancer gene expression and gene fusions that drive tumor progression.

cancer research methods guide

Cancer Research Methods Guide

The Cancer Research Methods Guide is a 40+ page comprehensive resource with simple, comprehensive workflows for a broad range of cancer research applications. This guide includes single-cell sequencing, spatial sequencing, methylation profiling, multiomics, cell-free RNA sequencing, and more.

Download free guide

Keep exploring

Tackling the unique complexity of pediatric cancer

A new exome-based test will help determine the genetic variants—germline and somatic—driving these rare cancers.

NGS proves invaluable for finding rare biomarkers

In this article, Dr. Vivek Subbiah explains how finding a rare biomarker can have a big impact on cancer patients.

Why choose whole-genome or exome sequencing?

Explore the benefits of both approaches to understand which method is best for your research.


Schwarze K, Buchanan J, Taylor JC, Wordsworth, S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med. 2018 Oct;20(10):1122-1130.  doi: 10.1038/gim.2017.247.