The entire DNA sequence of a living organism is that organism’s genome. The human genome is ~3 billion base pairs long and contains all the instructions necessary for forming a living, breathing person. Whole-genome sequencing determines the precise order of every single base pair in a genome, providing comprehensive information about both protein-coding regions and non-coding regions that may have other functions. Next-generation sequencing methods have made whole genome sequencing faster, cheaper, and more powerful than ever.
Whole genome sequencing (WGS) provides the most comprehensive data about a given organism. NGS can deliver large amounts of data in a short amount of time. Profiling the entire genome facilitates discovery of novel genes and variants associated with disease, particularly those in non-coding areas of the genome. Although it can be more expensive and time-consuming than targeted sequencing approaches and technologies like microarrays, these key advantages to sequencing entire genomes with WGS may prove worth it:
WGS is a powerful tool for variant discovery with several downstream applications including cancer research, genetic diseases research, epidemiology, and genotyping. WGS can be used not only to determine variant frequencies or how often a difference occurs within a population of organisms, but also to associate genetic variants with disease through genome-wide association studies (GWAS). As the price of WGS decreases, it is becoming more common to use it as a translational research tool. Having achieved the “$1000 genome,” multiple companies are pushing towards the next goal of the “$100 genome” [2-4].
Of the roughly 3 billion base pairs in the human genome, only about 1–2% are translated into functional proteins. The areas of the genome that encode functional proteins are called exons Sequencing only exons (whole exome sequencing; WES) is cheaper and faster than sequencing the entire genome and is more than a suitable approach for research groups that are only interested in protein-coding regions of the genome. The main differences between WGS and WES are:
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