A weighted accumulation test for associating rare genetic variation with quantitative phenotypes.
A weighted accumulation test for associating rare genetic variation with quantitative phenotypes.
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DOI：
10.1186/1753-6561-5-s9-s6
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发表时间：
2011-11-29
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影响因子：
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通讯作者：
Allen, Andrew S
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文献类型：
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作者：
Xing, Chuanhua;Satten, Glen A;Allen, Andrew S
目前，人们对开发检测罕见变异在疾病发展中所起作用的方法非常感兴趣。在这里，我们提出一个加权关联测试，积累遗传变异的信号通路。我们通过分析来自遗传分析研讨会17 （GAW17）数据集的697个不相关个体的外显子组测序研究的模拟表型数据来评估我们的方法。虽然我们的加权方法确定了与表型Q1相关的几个有趣的途径，但另一种非加权累积方法也是如此。这样的结果并不意外，因为在GAW17模拟模型中，变异的等位基因频率与其对表型的影响之间没有系统的关系。
Currently there is a great deal of interest in developing methods for testing the role that rare variation plays in disease development. Here we propose a weighted association test that accumulates genetic variation across a signaling pathway. We evaluate our approach by analyzing simulated phenotype data from an exome sequencing study of 697 unrelated individuals from the Genetic Analysis Workshop 17 (GAW17) data set. Although our weighted approach identifies several interesting pathways associated with phenotype Q1, so does an alternative unweighted accumulation approach. Such a result is not unexpected because there is no systematic relationship between the allele frequency of a variant and its effect on phenotype in the GAW17 simulation model.