Insight into the coding mutations that affect tumor biology

Narrowing the field of focus for cost-effective sequencing of relevant regions

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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Exome sequencing allows cancer researchers to assess only coding regions, which frequently contain mutations that affect tumor progression. Depending on experimental needs, the content for cancer exome sequencing can also be expanded to untranslated regions and microRNA (miRNA) binding sites. Because it offers an accessible combination of turnaround time and price, exome sequencing is the method of choice for many tumor-normal comparisons.

Learn More About Exome Sequencing

Library preparation and exome enrichment are critical to the success of any exome sequencing experiment. For cancer whole-exome sequencing, the ability to enrich limited DNA samples is especially important. Exome enrichment methods that uniformly and specifically enrich content enable reliable identification of coding variants.

Learn More About Target Enrichment
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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Illumina offers several library preparation, sequencing, and data analysis options for sequencing cancer exomes. Streamlined library prep workflows and flexible kit configurations accommodate multiple study designs. Illumina systems deliver industry-leading data quality—in fact, approximately 90% of the world’s sequencing data are generated using Illumina sequencing by synthesis (SBS) chemistry.

User-friendly tools simplify cancer exome data analysis and interpretation, so you can spend less time analyzing data and more time focusing on your next breakthrough.

Click on the below to view products for each workflow step.

Nextera Flex for Enrichment

Nextera Flex for Enrichment uses a fast, user-friendly workflow. On-bead tagmentation chemistry is combined with a simplified, single hybridization protocol to reduce total workflow time.

Nextera DNA Exome

This exome sequencing library preparation solution uses a simple one-day workflow to provide a fast path to greater understanding of the human exome.

NextSeq 2000 System

Groundbreaking benchtop sequencers allow you to explore new discoveries across a variety of current and emerging applications, with higher efficiency and fewer restraints.

NovaSeq 6000 System

Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.

DRAGEN Bio-IT Platform

The Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides ultra-rapid secondary analysis of exome and other NGS data.

BWA Enrichment App

Uses the BWA Genome Alignment Software and GATK Variant Caller for exome data analysis.

Isaac Enrichment App

Uses the Isaac Genome Alignment Software and Isaac Variant Caller for exome data analysis.

BaseSpace Sequence Hub

The Illumina genomics computing environment for NGS data analysis and management.

BaseSpace Variant Interpreter

Leverages leading annotation databases and a powerful filtering interface for rapid identification of disease-associated variants.

Sequencing Challenging FFPE Samples
Sequencing Challenging FFPE Cancer Samples

Dr. Yasser Riazalhosseini uses exome sequencing to identify cancer driver genes and novel biomarkers.

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FFPE QC Method
QC Method Enables Cancer Exome Sequencing

Researchers in Italy developed a quality control method for formalin-fixed, paraffin-embedded tissues.

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