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.

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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 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 550 System

Flexible configurations that support up to 12 exomes per run.

HiSeq 4000 Systems

High throughput and low cost for production-scale genomics.

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.

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Exome Sequencing Resources

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

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NGS Proves Invaluable for Biomarker Discovery
NGS Proves Invaluable for Biomarker Discovery

Researchers use RNA-Seq, ChIP-Seq, and exome sequencing in their search for gene expression profiles associated with cancer.

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