Cancer Whole-Exome Sequencing

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

Exome Sequencing of Melanoma and Colon Cancer Samples

Researchers using Illumina sequencing identified JAK1/2 mutations in tumors which were not responsive to PD-1 blockade.

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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

Featured Cancer Exome Sequencing Research

 
Breast Cancer
NGS Proves Invaluable for Biomarker Discovery

Cancer researchers use exome, RNA, and chromatin immunoprecipitation sequencing methods in their search for tumor-associated gene expression profiles.

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Blood Cells
Capturing Variant Data from Blood

Cancer researchers use whole-exome, whole-genome, and transcriptome sequencing of exosomal DNA and RNA from pancreatic cancer samples to gain insight into the potential of liquid biopsies.

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Tobacco Leaves
Exploring the Genetic Basis of Oral Cancer

Researchers use a variety of methods, including whole-exome sequencing, to study a deadly oral cancer. They have identified somatic variants and other genomic alterations that may influence the course of the disease.

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NGS Proves Invaluable for Biomarker Discovery
Breast Cancer Tissue

Cancer researchers use exome, RNA, and chromatin immunoprecipitation sequencing methods in their search for tumor-associated gene expression profiles.

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Exploring the Genetic Basis of Oral Cancer
Tobacco Leaves

Researchers use a variety of methods, including whole-exome sequencing, to study a deadly oral cancer. Dr. Majumder and his team have identified somatic variants and other genomic alterations that may influence the course of the disease.

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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.

References

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.