Synonyms
Definition
Genetic markers are detectable variations of DNA sequence with known chromosome locations. A genetic marker may or may not have a biological function. Each possible state among the various number of genetic variants is an allele. The chromosome location of a genetic marker is referred to as a locus. A polymorphism is a genetic variant that appears in at least 1% of the population.
Genetic variations can occur at many different DNA length scales, such as single nucleotide base, oligonucleotides, and long segment of bases. Single nucleotide polymorphism (SNP) is a single base variant, microsatellite markers involve various number of repeats of short DNA sequences (2–6 nucleotides), insertion–deletion variant and inversion variants may cover a range of ∼10 bases, and copy number variants occur at between multiple of 103 bases (kb) and multiple of 106 bases (Mb).
The names of genetic markers are yet to be standardized. However, copy...
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References
Balding DJ (2006) A tutorial on statistical methods for population association studies. Nat Rev Genet 7:781–791
Cordell HJ (2002) Epistasis: what it means, what it doesn’t mean, and statistical methods to detect it in humans. Hum Mol Genet 11:2463–2468
Feuk L, Carson AR, Schere SW (2006) Structural variation in the human genome. Nat Rev Genet 7:85–97
Frazer KA, Murray SS, Schork NJ, Topol EJ (2009) Human genetic variation and its contribution to complex traits. Nat Rev Genet 10:241–251
Li W (2008) Three lectures on case-control genetic association analysis. Brief Bioinfom 9:1–13
Ott J (1999) Analysis of human genetic linkage, 3rd edn. The Johns Hopkins University Press, Baltimore
Phillips PC (2008) Epistasis - the essential role of gene interactions in the structure and evolution of genetic systems. Nat Rev Genet 9:855–867
Slatkin M (2008) Linkage disequilibrium – understanding the evolutionary past and map** the medical future. Nat Rev Genet 9:477–485
Strachan T, Read A (2010) Human molecular genetics, 4th edn. Garland Science, New York, Part 4
Thomas D (2010) Gene-environment-wide association studies: emerging approaches. Nat Rev Genet 11:259–272
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Li, W. (2013). Genetic Marker. In: Dubitzky, W., Wolkenhauer, O., Cho, KH., Yokota, H. (eds) Encyclopedia of Systems Biology. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-9863-7_227
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DOI: https://doi.org/10.1007/978-1-4419-9863-7_227
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