Titlebook: Single Nucleotide Polymorphisms; Methods and Protocol Pui-Yan Kwok Book 20031st edition Springer Science+Business Media New York 2003

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SNP Discovery by Direct DNA Sequencing,dely used approach is direct DNA sequencing of polymerase chain reaction (PCR) products with dye-terminator chemistry analyzed on automated DNA sequencers (.). Although the quality of DNA sequencing data has improved significantly over the last few years, the peak pattern remains uneven and random a

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Computational SNP Discovery in DNA Sequence Data,y, population history, recombination, spatial heterogeneity of mutation rates, and various forms of selection. In humans, single base-pair substitution-type sequence variations occur with a frequency of approx 1 in 1.3 kb when two arbitrary sequences are compared (.). This frequency increases with h

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Genotyping SNPs With Molecular Beacons,uman disease, though the vast majority are neutral. Even neutral variations are important because they provide guideposts in the preparation of detailed maps of the human genome, serving as essential elements in linkage analyses that identify genes responsible for complex disorders (.). Although seq

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,SNP Genotyping by the ′’-Nuclease Reaction,say is run in a closed tube format with no postpolymerase chain reaction (PCR) processing steps. Results are obtained by simply measuring the fluorescence of the completed reactions. By eliminating post-PCR processing, allelic discrimination with fluorogenic probes reduces the time of analysis, elim

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Pyrosequencing for SNP Genotyping,ade system, consisting of four enzymes and specific substrates, to produce light whenever a nucleotide forms a base pair with the complementary nucleotide in a DNA template strand. As a result of nucleotide incorporation inorganic pyrophosphate (PPi) is released and is subsequently converted to ATP

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Oligonucleotide Ligation Assay,ted in a number of assays where the ability of oligonuleotide probes to be ligated reflects the genotype of the target molecules. This chapter will describe two protocols for solid-phase detection of reaction products in the oligonucleotide ligation assay (OLA), although there are several other dete