The International HapMap Project

The International HapMap Project
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DOI:
10.1038/nature02168
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发表时间:
2003-12-18
期刊:
影响因子:
64.8
通讯作者:
Tanaka, T
Tanaka, T
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Gibbs, RA;Belmont, JW;Tanaka, T

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国际人类基因组单体型图计划的目标是确定人类基因组中DNA序列变异的共同模式,并使这些信息在公共领域免费提供。一个国际财团正在通过确定来自非洲、亚洲和欧洲部分地区祖先的人群的DNA样本中100万或更多序列变异的基因型、频率和它们之间的关联程度,来绘制基因组中这些模式的图谱。HapMap将允许发现影响常见疾病的序列变异,将促进诊断工具的开发,并将增强我们选择治疗干预靶点的能力。
The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.