A comprehensive view of genomic alterations in cancer

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

Cancer Whole-Genome Sequencing

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 cancer 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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Forgotten Genome of Cancer Research

Researchers use whole-genome sequencing to identify rare cancer-associated variants in the germline, in an effort to improve understanding of the genetic determinants of early-onset sarcomas.

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Next-generation sequencing (NGS) has forever changed how we study life, health and disease. Watch the animation to learn more and get inspired to become a part of the journey, accelerate your research and discover more.

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. 

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 Flex Library Prep Kit

A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.

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.

NextSeq 550 System

Offers high throughput and flexibility for multiple sequencing applications.

NovaSeq 6000 System

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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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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