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Review

Detection of Single Nucleotide Polymorphisms

1
Cardiovascular Research Institute, University of California, 505 Parnassus Avenue, Long 1332A, Box 0130, San Francisco, CA 94143-0130, USA
2
Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, 800 E. Leigh Street, Suite 1-101, Richmond, VA 23298-0424, USA
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Author to whom correspondence should be addressed.
Curr. Issues Mol. Biol. 2003, 5(2), 43-60; https://doi.org/10.21775/cimb.005.043
Received: 14 December 2002 / Revised: 14 February 2003 / Accepted: 13 March 2003 / Published: 1 April 2003
Single nucleotide polymorphism (SNP) detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive methods. Driven by the Human Genome Project, these technologies are now maturing and robust strategies are found in both SNP discovery and genotyping areas. The nearly completed human genome sequence provides the reference against which all other sequencing data can be compared. Global SNP discovery is therefore only limited by the amount of funding available for the activity. Local, target, SNP discovery relies mostly on direct DNA sequencing or on denaturing high performance liquid chromatography (dHPLC). The number of SNP genotyping methods has exploded in recent years and many robust methods are currently available. The demand for SNP genotyping is great, however, and no one method is able to meet the needs of all studies using SNPs. Despite the considerable gains over the last decade, new approaches must be developed to lower the cost and increase the speed of SNP detection.
MDPI and ACS Style

Kwok, P.-Y.; Chen, X. Detection of Single Nucleotide Polymorphisms. Curr. Issues Mol. Biol. 2003, 5, 43-60. https://doi.org/10.21775/cimb.005.043

AMA Style

Kwok P-Y, Chen X. Detection of Single Nucleotide Polymorphisms. Current Issues in Molecular Biology. 2003; 5(2):43-60. https://doi.org/10.21775/cimb.005.043

Chicago/Turabian Style

Kwok, Pui-Yan, and Xiangning Chen. 2003. "Detection of Single Nucleotide Polymorphisms" Current Issues in Molecular Biology 5, no. 2: 43-60. https://doi.org/10.21775/cimb.005.043

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