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) with next-generation sequencing (NGS) 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. As a hypothesis-free approach, cancer WGS is well-suited for comparing tumor vs. matched normal samples and discovering novel cancer driver mutations.

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 and genomic alterations 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 cancer mutations via WGS.

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How Cancer Researchers Use WGS

Rare Sarcoma Variants
Identifying Rare Cancer-Associated Variants in the Germline

Researchers discuss the use of whole-genome sequencing to uncover rare cancer biomarkers associated with early-onset sarcomas.

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Nucleosome Patterns
Examining Nucleosome Patterns

Cancer whole-genome sequencing enables researchers to analyze nucleosome patterns and infer the gene expression status of cancer driver genes.

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Capturing Variant Data from Blood
Capturing Variant Data from Blood

Cancer researchers utilize WGS and other NGS methods to identify cancer-associated variants in exosomal DNA and RNA.

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Through tumor-normal whole-genome sequencing, 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. 

Illumina offers push-button tools to facilitate analysis of tumor-normal WGS data.

Learn more about:

Somatic Variant Calling in Tumor-Normal Studies

Identify true somatic variants with tumor-normal data analysis.

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How to Open Tumor-Normal Sequencing Data in BaseSpace Hub

This tutorial describes how to log into BaseSpace Sequence Hub to access tumor sequencing data. It also describes the data contained within each section.

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What Does the Somatic Summary Report Show?

This tutorial reviews the findings in the Somatic Summary Report produced by the Tumor-Normal Sequencing App in BaseSpace Sequence Hub.

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Loading Tumor-Normal Data into Integrative Genomics Viewer

This tutorial demonstrates how to load tumor-normal sequencing data into the BaseSpace Integrative Genomics Viewer app.

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Viewing Tumor Sequencing Data Using Integrative Genomics Viewer

This tutorial shows how to visualize variants identified between tumor and normal samples. This example highlights an indel in TP53 and a translocation between chromosomes 1 and 8.

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Tumor-Normal WGS Data Analysis Example

Visit BaseSpace Sequence Hub Data Central and use the tumor-normal filter to see example data. Note that access to this data requires a login. Register for an account.

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Visualizing Tumor Sequencing Data in BaseSpace Hub

Learn how to visualize tumor-normal sequencing data in BaseSpace Sequence Hub.

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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 and tumor-normal comparisons. 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 tools 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.

Illumina DRAGEN Bio-IT Platform

Accurate, ultra-rapid analysis of NGS data from whole genomes, with apps for germline and somatic data. Available on-premise or in BaseSpace Sequence Hub.

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.

Genome Editing

CRISPR-Cas9 genome editing allows scientists to mutate, silence, induce, or replace genes and genetic elements. This technology enables cancer-relevant studies such as interrogating tumor suppressor gene, oncogene, and immune response checkpoint gene function, plus a broad range of other applications. Whole-genome and targeted sequencing can be used to check off-target effects and confirm specificity.

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Collaborative efforts to characterize mutations and other genomic abnormalities in cancer include: 

A High-Resolution View of the Entire Genome

Learn more about the benefits of WGS and when to use it. Explore specialty methods such as de novo sequencing.

More About WGS
Genomic Technologies for Cancer Research

Learn how cancer WGS and other NGS methods 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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*Data calculations on file. Illumina, Inc., 2015