Whole genome sequencing

"Genome sequencing" redirects here. For the sequencing only of DNA, see DNA sequencing.
Electropherograms are commonly used to sequence portions of genomes.[1]
Schematic karyogram of a human, showing an overview of the human genome, with 22 homologous chromosomes, both the female (XX) and male (XY) versions of the sex chromosome (bottom right), as well as the mitochondrial genome (to scale at bottom left)

Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time.[2] This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.

Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014.[3][4][5] In the future of personalized medicine, whole genome sequence data may be an important tool to guide therapeutic intervention.[6] The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response.

Whole genome sequencing 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.[7] In addition, whole genome sequencing should not be confused with methods that sequence specific subsets of the genome – such methods include whole exome sequencing (1–2% of the genome) or SNP genotyping (< 0.1% of the genome).

  1. ^ Alberts, Bruce; Johnson, Alexander; Lewis, Julian; Raff, Martin; Roberts, Keith; Walter, Peter (2008). "Chapter 8". Molecular biology of the cell (5th ed.). New York: Garland Science. p. 550. ISBN 978-0-8153-4106-2.
  2. ^ "Definition of whole-genome sequencing – NCI Dictionary of Cancer Terms". National Cancer Institute. 2012-07-20. Retrieved 2018-10-13.
  3. ^ Gilissen (July 2014). "Genome sequencing identifies major causes of severe intellectual disability". Nature. 511 (7509): 344–7. Bibcode:2014Natur.511..344G. doi:10.1038/nature13394. hdl:2066/138095. PMID 24896178. S2CID 205238886.
  4. ^ Nones, K; Waddell, N; Wayte, N; Patch, AM; Bailey, P; Newell, F; Holmes, O; Fink, JL; Quinn, MC; Tang, YH; Lampe, G; Quek, K; Loffler, KA; Manning, S; Idrisoglu, S; Miller, D; Xu, Q; Waddell, N; Wilson, PJ; Bruxner, TJ; Christ, AN; Harliwong, I; Nourse, C; Nourbakhsh, E; Anderson, M; Kazakoff, S; Leonard, C; Wood, S; Simpson, PT; Reid, LE; Krause, L; Hussey, DJ; Watson, DI; Lord, RV; Nancarrow, D; Phillips, WA; Gotley, D; Smithers, BM; Whiteman, DC; Hayward, NK; Campbell, PJ; Pearson, JV; Grimmond, SM; Barbour, AP (29 October 2014). "Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis". Nature Communications. 5: 5224. Bibcode:2014NatCo...5.5224N. doi:10.1038/ncomms6224. PMC 4596003. PMID 25351503.
  5. ^ van El, CG; Cornel, MC; Borry, P; Hastings, RJ; Fellmann, F; Hodgson, SV; Howard, HC; Cambon-Thomsen, A; Knoppers, BM; Meijers-Heijboer, H; Scheffer, H; Tranebjaerg, L; Dondorp, W; de Wert, GM (June 2013). "Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics". European Journal of Human Genetics. 21 (Suppl 1): S1–5. doi:10.1038/ejhg.2013.46. PMC 3660957. PMID 23819146.
  6. ^ Mooney, Sean (Sep 2014). "Progress towards the integration of pharmacogenomics in practice". Human Genetics. 134 (5): 459–65. doi:10.1007/s00439-014-1484-7. PMC 4362928. PMID 25238897.
  7. ^ Kijk magazine, 01 January 2009