Validating, augmenting and refining genome-wide association signals.
Validating, augmenting and refining genome-wide association signals.
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DOI：
10.1038/nrg2544
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发表时间：
2009-05
期刊：
影响因子：
--
通讯作者：
Daly MJ
中科院分区：
文献类型：
--
作者：
Ioannidis JP;Thomas G;Daly MJ
使用全基因组平台的研究已经产生了前所未有的数量的有希望的信号，表明基因组变异和人类特征之间的关联。这篇综述阐述了验证、增强和提炼这些信号以确定明确表型的潜在因果变异所需的步骤。这些步骤包括：在相似和不同种群之间进行大规模精确复制；精细作图和重新测序；确定最具信息量的标记和多个独立的信息位点；纳入功能信息；以及改进所涉及的遗传效应的表型图谱。即使在复制证明效应存在的情况下，对因果变异的可信定位往往仍然难以捉摸。
Studies using genome-wide platforms have yielded an unprecedented number of promising signals of association between genomic variants and human traits. This Review addresses the steps required to validate, augment and refine such signals to identify underlying causal variants for well-defined phenotypes. These steps include: large-scale exact replication across both similar and diverse populations; fine mapping and resequencing; determination of the most informative markers and multiple independent informative loci; incorporation of functional information; and improved phenotype mapping of the implicated genetic effects. Even in cases for which replication proves that an effect exists, confident localization of the causal variant often remains elusive.
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