A complete view of genomic alterations in cancer

Cancer whole-genome sequencing informs analysis of oncogenes, tumor suppressors, and other risk factors


Cancer whole-genome sequencing (WGS) provides a base-by-base view of the unique mutations present in cancer tissue. It enables discovery of novel cancer-associated variants, including single nucleotide variants (SNVs), copy number changes, and structural variants. By comparing tumor and normal DNA, WGS can also provide a comprehensive view of changes to a specific tumor sample.

Many cancer-associated variants have been discovered using cancer genome sequencing. Ongoing efforts to categorize and characterize mutations in cancer include The Cancer Genome Atlas (TCGA), the International Cancer Genome Consortium (ICGC), and Catalogue of Somatic Mutations in Cancer (COSMIC).

WGS provides base-pair resolution of an entire genome and identifies SNVs, insertions and deletions (indels), and copy number variations (CNVs) in a single run. WGS provides a comprehensive view of the unique mutations in cancer tissue, including those contributed by surrounding normal tissue and tumor clonality.

Cancer Whole-Genome Sequencing to Identify Pathogenic Mutations

Dr. Nicholas J. Schork discusses how to identify pathogenic mutations via WGS.

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Through tumor-normal WGS, researchers can compare tumor mutations to a matched normal sample. Tumor-normal comparisons are crucial for identifying the somatic variants that act as driver mutations in cancer progression. Learn more.

Somatic Variant Calling in Tumor-Normal Studies

Identify true somatic variants with tumor-normal data analysis.

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Illumina offers several library preparation, sequencing, and data analysis options for cancer whole-genome 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.

TruSeq DNA PCR-Free Library Prep Kit

Provides high genomic coverage even in challenging regions.

TruSeq Nano DNA Library Prep Kit

Enables efficient interrogation of samples with limited available DNA.

NeoPrep Library Prep System

An easy-to-use system for preparing high-quality NGS libraries compatible with all Illumina sequencing platforms.

TruSeq Nano DNA Library Prep Kit for NeoPrep

Compatible with the NeoPrep System, delivering high-quality, reproducible libraries from low DNA input.

HiSeq 2500 System

Rapid sequencing run mode provides answers in as little as 27 hours.

HiSeq 3000/HiSeq 4000 Systems

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

NextSeq Series

Offers high throughput and flexibility for multiple sequencing applications.

NovaSeq Series

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

BaseSpace Tumor-Normal Sequencing App

Designed to detect somatic variants from a tumor and matched normal sample pair.

BaseSpace Sequence Hub

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

BaseSpace Correlation Engine

A growing library of curated genomic data to support researchers in identifying disease mechanisms, drug targets, and prognostic or predictive biomarkers.

High-Throughput Genomic Technologies for Cancer Research

Learn how cancer whole-genome sequencing can provide a deeper understanding of tumor biology.

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Cancer Research Review

An overview of recent cancer research publications featuring Illumina technology.

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Cancer and Immune System Research Review

An overview of recent research publications exploring the interaction between tumor cells and the immune system.

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