On the follow-up of genome-wide association studies: an overall test for the most promising SNPs.
On the follow-up of genome-wide association studies: an overall test for the most promising SNPs.
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DOI：
10.1002/gepi.20578
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发表时间：
2011-07
影响因子：
2.1
通讯作者：
Lange, Christoph
中科院分区：
文献类型：
--
作者：
Lipman, Peter J.;Cho, Michael H.;Bakke, Per;Gulsvik, Amund;Kong, Xiangyang;Lomas, David A.;Anderson, Wayne;Silverman, Edwin K.;Lange, Christoph
关键词：
即使在大规模的全基因组关联研究中，在全基因组显著性水平上也只检测到一小部分真正的关联。当很少或没有关联达到显著性阈值时，一种策略是通过在额外的研究中对它们进行基因分型来跟踪最有希望的候选者，即具有最小关联检验p值的单核苷酸多态性。在本通信中，我们提出了全基因组关联研究的总体测试，该测试同时分析具有最有希望的p值的SNP，从而允许早期评估所选SNP的随访是否可能有希望。我们从理论上推导出原假设下提出的整体检验的属性，并根据模拟研究评估其功效。应用于慢性阻塞性肺疾病的GWAS表明，在顶级SNP之间存在真正的关联信号，并且额外的后续研究是有希望的。
Even in large-scale genome-wide association studies, only a fraction of the true associations are detected at the genome-wide significance level. When few or no associations reach the significance threshold, one strategy is to follow-up on the most promising candidates, i.e. the single nucleotide polymorphisms with the smallest association-test p-values, by genotyping them in additional studies. In this communication, we propose an overall test for genome-wide association studies that analyzes the SNP’s with the most promising p-values simultaneously and thereby allows an early assessment of whether the follow- up of the selected SNP’s is likely promising. We theoretically derive the properties of the proposed overall test under the null hypothesis and assess its power based on simulation studies. An application to a GWAS for chronic obstructive pulmonary disease suggests that there are true association signals among the top SNPs and that an additional follow-up study is promising.
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影响因子：
3.7
作者：
MASSEY, FJ
通讯作者：
MASSEY, FJ
DOI：
10.1111/j.2517-6161.1995.tb02031.x
发表时间：
1995-01-01
影响因子：
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作者：
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通讯作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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