Tuesday, October 5, 2010

Acronym in genomics: SNP for single-nucleotide polymorphism

SNP stands for single-nucleotide polymorphism, a phrase in genetics, that is frequently used in the context of genome analysis and the study of natural selection.

The term SNP denotes a point of difference (mismatching nucleotide pair), when detected while comparing the genomes of two individuals (two humans, Homo sapiens, or two individuals of another species). The genomes of any two people differ at only approximately one out of every 1,000 pairs of DNA nucleotides, or “letters,” along the human genome sequence, which consists of about three billion pairs of such DNA letters [1].

The study of SNP patterns is critical in understanding the evolution of diseases [2] such as cancer [3].

Note: The plural form SNPs is pronounced “snips.”

Keywords: genetics, evolutionary biology, biological adaption, genetic mutations, selective sweep, alleles

References and further reading
[1] J. K. Pritchard: How we are evolving. Sci. Am. October 2010, 302 (4), pp. 41-47. Abstract.
[2] Technology Feature: Genomics: SNPs and human disease. Nature 16 June 2005, 435, 993. DOI: 10.1038/435993a.
[3] R. Mei et al.: Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays. Genome Res. 2000, 10, pp. 1126-1137. DOI: 10.1101/gr.10.8.1126.

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