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 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 allows cancer researchers to assess only coding regions, as they are the most likely to contain mutations that affect tumor progression. Depending on experimental needs, the content for cancer exome sequencing can also be expanded to untranslated regions and 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.

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Library preparation and exome enrichment are critical to the success of any exome sequencing experiment. For cancer 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.

Illumina offers several library preparation, sequencing, and data analysis options for cancer exome sequencing. 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.

Push-button apps in BaseSpace Sequence Hub simplify data analysis, so you can spend less time analyzing data and more time focusing on the next breakthrough.

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

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 Series

Flexible configurations that support up to 12 exomes per run.

HiSeq 2500 System

The highest throughput for sequencing dozens to hundreds of cancer exomes per run.

HiSeq 3000/HiSeq 4000 Systems

Patterned flow cell technology results in higher throughput, lower price per sample, and enhanced speed and performance.

NovaSeq 6000 System

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

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 the Isaac Variant Caller for exome data analysis.

BaseSpace Sequence Hub

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

Genomics Powers Access to Cancer Breakthroughs
Genomics Powers Access to Cancer Breakthroughs

Garret Hampton, EVP of Clinical Genomics at Illumina, shares his vision for how genomics might shape the future of oncology.

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Exome Sequencing Resources

Read about applications and Illumina solutions for exome sequencing and simplified data analysis.

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