当前位置: X-MOL 学术Annu. Rev. Biomed. Eng. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
SNP genotyping: technologies and biomedical applications.
Annual Review of Biomedical Engineering ( IF 12.8 ) Pub Date : 2007-03-30 , DOI: 10.1146/annurev.bioeng.9.060906.152037
Sobin Kim 1 , Ashish Misra
Affiliation  

Single nucleotide polymorphisms (SNPs) are the most frequently occurring genetic variation in the human genome, with the total number of SNPs reported in public SNP databases currently exceeding 9 million. SNPs are important markers in many studies that link sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular bases of diseases. For this reason, over the past several years a great deal of effort has been devoted to developing accurate, rapid, and cost-effective technologies for SNP analysis, yielding a large number of distinct approaches. This article presents a review of SNP genotyping techniques and examines their principles of genotype determination in terms of allele differentiation strategies and detection methods. Further, several current biomedical applications of SNP genotyping are discussed.

中文翻译:

SNP基因分型:技术和生物医学应用。

单核苷酸多态性(SNP)是人类基因组中最常见的遗传变异,目前在公共SNP数据库中报告的SNP总数已超过900万。在许多将序列变异与表型改变联系起来的研究中,SNP是重要的标志物。这些研究有望增进对人类生理学的理解,并阐明疾病的分子基础。因此,在过去的几年中,人们一直致力于开发用于SNP分析的准确,快速且具有成本效益的技术,从而产生了大量独特的方法。本文介绍了SNP基因分型技术的综述,并根据等位基因分化策略和检测方法检查了它们的基因型确定原理。进一步,
更新日期:2019-11-01
down
wechat
bug