Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organisms genome at a single time. This entails sequencing all of an organisms chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. WGS is a laboratory procedure that determines the order of bases in the genome of an organism in one process. It provides a very precise DNA fingerprint that can be used to identify the organism and track outbreaks. Unlike focused approaches such as exome sequencing or targeted resequencing, which analyze a limited portion of the genome, WGS delivers a comprehensive view of the entire genome. It can detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants. WGS has largely been used as a research tool, but it is being introduced to clinics and may be an important tool in the future of personalized medicine.
It is important to note that WGS should not be confused with DNA profiling, which only determines the likelihood that genetic material came from a particular individual or group, and does not contain additional information on genetic relationships, origin, or susceptibility to specific diseases. In principle, full genome sequencing can provide the raw nucleotide sequence of an individual organisms DNA at a single point in time. However, further analysis must be performed to provide the biological or medical meaning of this sequence, such as how this knowledge can be used to help prevent disease. Methods for analyzing sequencing data are being developed and refined.
In summary, WGS is a laboratory procedure that determines the order of bases in the genome of an organism in one process, providing a comprehensive view of the entire genome. It can detect various types of genetic variations and is being used in research and clinical settings.