Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks. Rapidly dropping sequencing costs and the ability to produce large volumes of data with today’s sequencers make whole-genome sequencing a powerful tool for genomics research.
While this method is commonly associated with sequencing human genomes, the scalable, flexible nature of next-generation sequencing (NGS) technology makes it equally useful for sequencing any species, such as agriculturally important livestock, plants, or disease-related microbes.
Unlike focused approaches such as exome sequencing or targeted resequencing, which analyze a limited portion of the genome, whole-genome sequencing delivers a comprehensive view of the entire genome. It is ideal for discovery applications, such as identifying causative variants and novel genome assembly.
Whole-genome sequencing can detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants. Due to recent technological innovations, the latest genome sequencers can perform whole-genome sequencing more efficiently than ever.
Sequencing large genomes (> 5 Mb), such as human, plant, or animal genomes, can provide valuable information for disease research and population genetics.Learn More
Small genome sequencing (≤ 5 Mb) involves sequencing the entire genome of a bacterium, virus, or other microbe. Without requiring bacterial culture, researchers can sequence thousands of small organisms in parallel using NGS.Learn More
De novo sequencing refers to sequencing a novel genome where there is no reference sequence available. NGS enables fast, accurate characterization of any species.Learn More
Phased sequencing, or genome phasing, distinguishes between alleles on homologous chromosomes, resulting in whole-genome haplotypes. This information is often important for genetic disease studies.Learn More
Previously a challenging application, human whole-genome sequencing has never been simpler. It offers the most detailed view into our genetic code.Learn More
Understanding host genetic differences and individual responses to the SARS-CoV-2 virus increases understanding of disease susceptibiliity and severity. Read more about the methods for host risk & immune response studies.Learn More
Illumina is providing whole-genome sequencing for a UK-wide study led by Genomics England, designed to compare the genomes of severely and mildly ill COVID-19 patients.
Whole-genome shotgun sequencing and transcriptomics provide researchers and pharmaceutical companies with data to refine drug discovery and development.
Researchers are using shotgun metagenomics to improve our understanding of human health, disease, and microbial evolution.
Whole genome sequencing may be the key to helping parents avoid months or years of inconclusive tests. Listen to experts from the Undiagnosed Diseases Network to learn more.Listen to the Podcast
Whole-genome sequencing of tumor samples provides a comprehensive view of the unique mutations in cancer tissue, informing analysis of oncogenes, tumor suppressors, and other risk factors.
This method can be utilized to generate accurate microbial reference genomes, identify novel bacteria and viruses, perform comparative genomic studies, and more.
This method allows researchers to identify the organisms present in a given complex sample, analyze bacterial diversity, and detect microbial abundance in various environments.
NGS-based WGS involves analysis of cell-free DNA fragments across the entire genome, which has proven advantages over other prenatal testing methodologies.
This method can detect multiple variant types in a single assay, and help clinical researchers identify causative genetic variants linked to rare disorders.
Researchers can utilize WGS and other methods to identify genetic variants associated with complex diseases and characterize disease mechanisms.
The user-friendly "Recommended Links" feature allows you to quickly find in-depth content and products relevant to your specific field of interest. You can access this option from the top of any illumina.com page.Learn How
This library is derived from the small, well-characterized bacteriophage genome, PhiX. It is an ideal sequencing control for run quality monitoring.Learn More
Enter your email address.
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project with the NovaSeq 6000 System.View System
Compare sequencing platforms by application and specification. Find tools and guides to help you choose the right instrument.
Determine the best kit for your needs based on your project type, starting material, and method of interest.
Find high-quality whole-genome and other sequencing services that deliver analyzed data to researchers.