Introduction to Whole-Genome Sequencing
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.
Advantages of Whole-Genome Sequencing
- Provides a high-resolution, base-by-base view of the genome
- Captures both large and small variants that might be missed with targeted approaches
- Identifies potential causative variants for further follow-up studies of gene expression and regulation mechanisms
- Delivers large volumes of data in a short amount of time to support assembly of novel genomes
An Uncompromised View of the Genome
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.
Compare Whole-Genome & Exome Sequencing
Explore the benefits of each approach to determine which method is best for your research.
View InfographicKey Whole-Genome Sequencing Methods
Large Whole-Genome Sequencing
Sequencing large genomes (> 5 Mb), such as human, plant, or animal genomes, can provide valuable information for disease research and population genetics.
Learn MoreSmall Whole-Genome Sequencing
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 MoreDe Novo Sequencing
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 MorePhased Sequencing
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 MoreHuman Whole-Genome Sequencing
Previously a challenging application, human whole-genome sequencing has never been simpler. It offers the most detailed view into our genetic code.
Learn MoreCOVID-19 Host Risk and Response
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.
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Featured Products
Illumina DNA Prep
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.
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NovaSeq Reagent Kit
Reagent kits for the NovaSeq 6000 System provide ready-to-use cartridge-based reagents for cluster generation and SBS.
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MiSeq Reagent Kit
Optimized chemistry to increase cluster density and read length, and improve sequencing quality scores, compared to earlier MiSeq reagent kit versions.
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BaseSpace Sequence Hub and iCredits
Data management and simplified bioinformatics for labs getting started and for rapidly scaling next-generation sequencing operations.
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Whole-Genome Sequencing Data Analysis
The DRAGEN Bio-IT Platform provides accurate, ultra-rapid analysis of whole-genome sequencing data across a broad range of applications.
Learn MoreHow Scientists Use WGS
Investigating the Genetics of COVID-19 Susceptibility
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.
The Time is Now for Microbiome Studies
Whole-genome shotgun sequencing and transcriptomics provide researchers and pharmaceutical companies with data to refine drug discovery and development.
NGS is Revealing the Mysterious World of Microbes
Researchers are using shotgun metagenomics to improve our understanding of human health, disease, and microbial evolution.
Shortening the Journey to Diagnosis
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 PodcastIllumina DNA PCR-Free Prep
A high-performing, fast, and integrated workflow for sensitive applications such as human whole-genome sequencing.
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Related Solutions
Cancer Whole-Genome Sequencing
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.
Microbial Whole-Genome Sequencing
This method can be utilized to generate accurate microbial reference genomes, identify novel bacteria and viruses, perform comparative genomic studies, and more.
Shotgun Metagenomics
This method allows researchers to identify the organisms present in a given complex sample, analyze bacterial diversity, and detect microbial abundance in various environments.
Noninvasive Prenatal Testing
NGS-based WGS involves analysis of cell-free DNA fragments across the entire genome, which has proven advantages over other prenatal testing methodologies.
Rare Disease Whole-Genome Sequencing
This method can detect multiple variant types in a single assay, and help clinical researchers identify causative genetic variants linked to rare disorders.
Complex Disease Genomics
Researchers can utilize WGS and other methods to identify genetic variants associated with complex diseases and characterize disease mechanisms.
Additional Tips and Training Opportunities
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Learn HowWhat is the PhiX Control v3 Library?
This library is derived from the small, well-characterized bacteriophage genome, PhiX. It is an ideal sequencing control for run quality monitoring.
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Additional Resources
Flexible Genome Sequencer
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project with the NovaSeq 6000 System.
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Sequencing Platforms
Compare sequencing platforms by application and specification. Find tools and guides to help you choose the right instrument.
Library Prep and Array Kit Selector
Determine the best kit for your needs based on your project type, starting material, and method of interest.
Sequencing Services
Find high-quality whole-genome and other sequencing services that deliver analyzed data to researchers.
Sequencing Method Explorer
Use this interactive tool to explore experimental NGS library preparation methods compiled from the scientific literature.
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View Sequencing Coverage Tips
Learn how to estimate and achieve the necessary sequencing coverage for your experiment.
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