DNA 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 and third generation sequencing 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 and third generation sequencers (Oxford Nanopore) add the possibility to detect epigenetic modifications. These third generation sequencers are also suitable for metagenomics and microbiome analyses.