Single Nucleotide Polymorphisms (SNPs): Identification and Scoring


Single nucleotide polymorphisms (SNPs) are the most abundant DNA sequence variations in the human genome. Numerous methods have been developed to identify and score them. A large set of human SNPs have been identified and mapped to the reference human genome sequence. The SNP markers are useful for the study of the genetic basis of many human diseases.

Keywords: single nucleotide polymorphism; SNP genotyping; SNP discovery; genetic mapping


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Further Reading

Gray IC, Campbell DA and Spurr NK (2000) Single nucleotide polymorphisms as tools in human genetics. Human Molecular Genetics 9: 2403–2408.

Kwok PY (2001) Methods for genotyping single nucleotide polymorphisms. Annual Review of Genomics and Human Genetics 2: 235–258.

Nowotny P, Kwon JM and Goate AM (2001) SNP analysis to dissect human traits. Current Opinion in Neurobiology 11: 637–641.

Schork NJ, Fallin D and Lanchbury JS (2000) Single nucleotide polymorphisms and the future of genetic epidemiology. Clinical Genetics 58: 250–264.

Tsuchihashi Z and Dracopoli NC (2002) Progress in high throughput SNP genotyping methods. Pharmacogenomics Journal 2: 103–110.

Web Links

Cancer Genome Anatomy Project (CGAP). The CGAP website provides researchers with access to all CGAP data and biological resources including genomic data for human and mouse, including expressed sequence tags (ESTs), gene expression patterns, single nucleotide polymorphisms (SNPs), cluster assemblies and cytogenetic information

Single Nucleotide Polymorphism (SNP). The NCBI single nucleotide polymorphism database contains data on all the publicly available SNPs, with their map positions in the human genome, allele frequencies where available and some haplotype data

The SNP Consortium Ltd. The SNP Consortium (TSC) website contains data on >1.8 million SNPs discovered and characterized by its member institutions and other publicly funded groups

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How to Cite close
Kwok, Pui‐Yan(Sep 2005) Single Nucleotide Polymorphisms (SNPs): Identification and Scoring. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005393]