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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Single nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service
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Single nucleotide polymorphism in genome-wide association of human population: A tool for broad spectrum service

机译：人类全基因组关联中的单核苷酸多态性：广谱服务的工具

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摘要

Genome-wide patterns of variation across individuals provide most powerful source of data for uncovering the history of migration, expansion, and adaptation of the human population. The arrival of new technologies that type more than millions of the single nucleotide polymorphisms (SNPs) in a single experiment has made SNP in genome-wide association (GWA) assay a prudent venture. SNPs represent the most widespread type of sequence variation in genomes, and known as valuable genetic markers for revealing the evolutionary history and common genetic polymorphisms that explain the heritable risk for common diseases. Characterizing the nature of gene variation in human populations and assembling an extensive catalog of SNPs in candidate genes in association with particular diseases are the major goals of human genetics. In this article we explore the recent discovery of SNP–GWA to revolutionize not only the process of genetic variation and disease detection but also the convention of preventative and curative medicine for future prospects.
机译：全基因组范围内的个体变异模式提供了最强大的数据来源，可揭示人口迁移，扩展和适应的历史。在一次实验中键入超过数百万个单核苷酸多态性（SNP）的新技术的出现使全基因组关联（GWA）分析中的SNP成为一种审慎的尝试。 SNP代表基因组中序列变异的最广泛类型，并且被称为有价值的遗传标记，用于揭示进化史和解释常见疾病遗传风险的常见遗传多态性。表征人类基因变异的性质并在与特定疾病相关的候选基因中组装广泛的SNP目录是人类遗传学的主要目标。在本文中，我们探索了SNP-GWA的最新发现，不仅改变了遗传变异和疾病检测的过程，而且还为预防和治疗医学的惯例带来了未来的发展前景。

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