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
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Whole-genome sequencing enables researchers to examine nucleosome patterns and infer the gene expression status of cancer driver genes.Read Interview
Learn why Mark Bellgrove, PhD expects whole-genome sequencing to be the desired platform for ADHD studies and other complex disease research.Read Interview
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.
This method enables 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.
Whole-genome sequencing with NGS technology enables analysis of cell-free DNA fragments across the whole genome, which has proven advantages over other noninvasive prenatal testing (NIPT) methodologies. Learn more about NIPT.