Perspectives on human genetic variation from the HapMap Project.

Perspectives on human genetic variation from the HapMap Project.
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DOI:
10.1371/journal.pgen.0010054
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发表时间:
2005-10
期刊:
影响因子:
4.5
通讯作者:
Chaix R
Chaix R
中科院分区:
生物学2区
文献类型:
--
作者:
McVean G;Spencer CC;Chaix R

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国际单体型图计划的完成标志着人类遗传学新阶段的开始。该项目的目的是通过表征四个地理人群的 270 名个体样本中的遗传变异和连锁不平衡模式,提供一种资源,促进有效的全基因组关联研究的设计。总共有超过一百万个 SNP 在这些基因组中被分型,为人类遗传多样性提供了前所未有的视角。在这篇综述中,我们重点关注 HapMap 项目告诉我们的人类遗传变异的结构以及塑造它的基本分子和进化过程。
The completion of the International HapMap Project marks the start of a new phase in human genetics. The aim of the project was to provide a resource that facilitates the design of efficient genome-wide association studies, through characterising patterns of genetic variation and linkage disequilibrium in a sample of 270 individuals across four geographical populations. In total, over one million SNPs have been typed across these genomes, providing an unprecedented view of human genetic diversity. In this review we focus on what the HapMap project has taught us about the structure of human genetic variation and the fundamental molecular and evolutionary processes that shape it.
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