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.
Researchers discuss the use of whole-genome sequencing to uncover rare cancer biomarkers associated with early-onset sarcomas.Read Interview
Cancer whole-genome sequencing enables researchers to analyze nucleosome patterns and infer the gene expression status of cancer driver genes.Read Interview
Cancer researchers utilize WGS and other NGS methods to identify cancer-associated variants in exosomal DNA and RNA.Read Interview
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.
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Learn how to analyze and visualize large tumor-normal whole-genome sequencing data sets, and see data analysis examples.
This tutorial describes how to log into BaseSpace Sequence Hub to access tumor sequencing data. It also describes the data contained within each section.View Tutorial
This tutorial reviews the findings in the Somatic Summary Report produced by the Tumor-Normal Sequencing App in BaseSpace Sequence Hub.View Tutorial
This tutorial demonstrates how to load tumor-normal sequencing data into the BaseSpace Integrative Genomics Viewer app.View Tutorial
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.View Tutorial
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.View Sample Data
Learn how to visualize tumor-normal sequencing data in BaseSpace Sequence Hub.Read Technical Note
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.
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.
Enables efficient interrogation of samples with limited available DNA.
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.
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.Learn More
*Data calculations on file. Illumina, Inc., 2015