Single-nucleotide polymorphisms genotyping

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Allele variant forms oftheDNA sequence at a specified locus. For example, alleles at a single-nucleotide polymorphism (SNP) are characterized by the nucleotide that is changing. The combination of two alleles at a locus constitutes a genotype. 

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Wang, D.G., et al., "Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome," Science 280, 1077-1082 (1998). 

E. S. (1998). Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 280, 1077-1082. 

Blondal T, Waage BG, Smarason SV, Jonsson F, Fjalldal SB, et al. 2003. A novel MALDI-TOF based methodology for genotyping single nucleotide polymorphisms. Nucleic Acids Res 15 el55. 

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Keywords Bioinformatics database disease dmg function genotype interaction pathway pharmacogenomics phenotype single-nucleotide polymorphism (SNP) software stmcture systems biology. 

Kwok, P. Y. (2001) Methods for genotyping single nucleotide polymorphisms. Anna Rev Genomics Hum Genet. 2, 235-258. 

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