Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
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DOI：
10.1002/gepi.20303
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发表时间：
2008-05-01
影响因子：
2.1
通讯作者：
Daly, Mark J.
中科院分区：
文献类型：
--
作者：
Pe'er, Itsik;Yelensk, Roman;Daly, Mark J.
全基因组关联研究是遗传学中一个令人兴奋的策略，最近变得可行，并收获了许多与多种表型相关的新基因。面对测试一组全基因组的多个假设，其中大多数是产生噪音，零分布的关联信号，确定结果的意义，提出了一个挑战，协会的研究人员广泛的社区。而不是每项研究参与独立的重要性标准的评估，我们已经承担的任务，制定这样的标准的全基因组意义，根据国际单倍型图联盟收集的数据。我们报告了欧洲人估计有100万个全基因组独立测试的测试负担，而非洲人则是这个数字的两倍。我们进一步确定了敏感性的测试负担所需的显着性水平，与关联研究的分期设计的影响。
Genomewide association studies are an exciting strategy in genetics, recently becoming feasible and harvesting many novel genes linked to multiple phenotypes. Determining the significance of results in the face of testing a genomewide set of multiple hypotheses, most of which are producing noisy, null-distributed association signals, presents a challenge to the wide community of association researchers. Rather than each study engaging in independent evaluation of significance standards, we have undertaken the task of developing such standards for genomewide significance, based on data collected by the International Haplotype Map Consortium. We report an estimated testing burden of a million independent tests genomewide in Europeans, and twice that number in Africans. We further identify the sensitivity of the testing burden to the required significance level, with implications to staged design of association studies.