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Автор Kwok, Pui-Yan
Дата выпуска 2001
dc.description ▪ Abstract  One of the fruits of the Human Genome Project is the discovery of millions of DNA sequence variants in the human genome. The majority of these variants are single nucleotide polymorphisms (SNPs). A dense set of SNP markers opens up the possibility of studying the genetic basis of complex diseases by population approaches. In all study designs, a large number of individuals must be genotyped with a large number of markers. In this review, the current status of SNP genotyping is discussed in terms of the mechanisms of allelic discrimination, the reaction formats, and the detection modalities. A number of genotyping methods currently in use are described to illustrate the approaches being taken. Although no single genotyping method is ideally suited for all applications, a number of good genotyping methods are available to meet the needs of many study designs. The challenges for SNP genotyping in the near future include increasing the speed of assay development, reducing the cost of the assays, and performing multiple assays in parallel. Judging from the accelerated pace of new method development, it is hopeful that an ideal SNP genotyping method will be developed soon.
Формат application.pdf
Издатель Annual Reviews
Копирайт Annual Reviews
Название METHODS FOR GENOTYPING SINGLE NUCLEOTIDE POLYMORPHISMS
DOI 10.1146/annurev.genom.2.1.235
Print ISSN 1527-8204
Журнал Annual Review of Genomics and Human Genetics
Том 2
Первая страница 235
Последняя страница 258
Аффилиация Kwok, Pui-Yan; Washington University School of Medicine, St. Louis, Missouri 63110; e-mail: kwok@genetics.wustl.edu

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