Whole-genome sequencing is the most comprehensive method for analyzing the genome. 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 whole-genome sequencing 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 studies of disease 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
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.
Microbial whole-genome sequencing is important for generating accurate reference genomes, microbial identification, and other comparative genomic studies. Learn more about microbial WGS.
With shotgun metagenomics, researchers can evaluate all genes in all organisms present in a given complex sample. This method enables microbiologists to analyze bacterial diversity and detect microbial abundance in various environments. Learn more about shotgun metagenomics.
Whole-genome sequencing can identify causative variants associated with complex diseases and traits, leading to further studies of gene targets to characterize disease mechanisms. Learn more about causal variant discovery.