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
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.Read Article
Whole-genome shotgun sequencing and transcriptomics provide researchers and pharmaceutical companies with data to refine drug discovery and development.Read Interview
Researchers are using shotgun metagenomics to investigate the whole genome and improve our understanding of human health, disease, and microbial evolution.Read Interview
This collaboration is the first to introduce the concept of rapid whole-genome sequencing (rWGS) in China for indiscriminate detection in the Neonatal Intensive Care Unit (NICU).Read Interview
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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. Learn more about cancer WGS.
This method can be utilized to generate accurate microbial reference genomes, identify novel bacteria and viruses, perform comparative genomic studies, and more. Learn more about microbial WGS.
This method allows researchers to identify the organisms present in a given complex sample, analyze bacterial diversity, and detect microbial abundance in various environments. Learn more about shotgun metagenomics.
NGS-based WGS involves analysis of cell-free DNA fragments across the entire genome, which has proven advantages over other prenatal testing methodologies. Learn more about NIPT.
Whole-genome sequencing and other genomic technologies can help scientists identify causative genetic variants linked to rare disorders. Learn more about rare disease genomics.
Researchers can utilize WGS and other methods to identify genetic variants associated with complex diseases and characterize disease mechanisms. Learn more about complex disease research.