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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.
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国际HapMap项目 国际HapMap项目

    Nature
    |December 20, 2003
    PubMed
    概括

    国际HapMap项目绘制了人类基因组的DNA序列变异. 这种遗传地图有助于发现与疾病相关的变异,并开发新的诊断和治疗方法.

    科学领域:

    • 基因组学就是基因组学.
    • 人类遗传学 人类遗传学
    • 人口遗传学 人口遗传学

    背景情况:

    • 了解人类遗传变异对于生物医学研究至关重要.
    • 以前的努力已经确定了一些遗传变异,但缺乏全面的地图.

    研究的目的:

    • 为了创建一个详细的地图的常见DNA序列在整个人类基因组的变化.
    • 为公众提供全面的人类遗传变异数据.

    主要方法:

    • 来自全球不同人口 (非洲,亚洲,欧洲) 的DNA中超过一百万个序列变异的基因造型.
    • 分析变异频率和遗传关联模式 (链接不平衡).

    主要成果:

    • 建立了人类常见遗传变异的公共数据库.
    • 识别了数百万个单核酸多态 (SNP) 和其他变体.

    结论:

    • 哈普地图为遗传关联研究提供了一个基础资源.
    • 促进发现导致常见疾病的遗传因素.
    • 支持开发有针对性的诊断和治疗方法.
    关键词:
    生物医学和行为研究研究.经验方法的实证方法.遗传学和生殖生殖学

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