Single Nucleotide Polymorphisms (SNPs): Identification and Scoring

Pui‐Yan Kwok, University of California, San Francisco, California, USA

Published online: September 2005

DOI: 10.1038/npg.els.0005393

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

 References
    Buetow KH, Edmonson MN and Cassidy AB (1999) Reliable identification of large numbers of candidate SNPs from public EST data. Nature Genetics 21: 323–325.
    Collins FS, Guyer MS and Charkravarti A (1997) Variations on a theme: cataloging human DNA sequence variation. Science 278: 1580–1581.
    Collins FS and McKusick VA (2001) Implications of the Human Genome Project for medical science. Journal of the American Medical Association 285: 540–544.
    Kwok PY (2001) Methods for genotyping single nucleotide polymorphisms. Annual Review of Genomics and Human Genetics 2: 235–258.
    Kwok PY and Chen X (1998) Detection of single nucleotide variations. Genetic Engineering 20: 125–134.
    Marth G, Yeh R, Minton M, et al. (2001) Single-nucleotide polymorphisms in the public domain: how useful are they? Nature Genetics 27: 371–372.
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    The International SNP Map Working Group (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409: 928–933.
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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
    ePath 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 http://cgap.nci.nih.gov/
    ePath 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 http://www.ncbi.nlm.nih.gov/SNP/
    ePath 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 http://snp.cshl.org/

Related Sub-Topics:

Nucleic Acid Structure | Bioinformatics | Gene and Genome Structure and Organisation | Techniques and Tools in Clinical Genetics | Statistical Methodology in Genetics | Inter-Individual Variation and Polymorphism | DNA Structure and Function | Techniques and Tools in Molecular Biology
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Article Title: Single Nucleotide Polymorphisms (SNPs): Identification and Scoring
 
How to Cite close
Kwok, Pui‐Yan(Sep 2005) Single Nucleotide Polymorphisms (SNPs): Identification and Scoring. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005393]