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Treating phenotype as given: a simple resampling method for genome-wide association studies

机译:按给定的对待表型:全基因组关联研究的简单重采样方法

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Significance of genetic association to a marker has been traditionally evaluated through statistics that are standardized such that their null distributions conform to some known ones. Distributional assumptions are often required in this standardization procedure. Based on the observation that the phenotype remains the same regardless of the marker being investigated, we propose a simple statistic that does not need such standardization. We propose a resampling procedure to assess this statistic’s genome-wide significance. This method has been applied to replicate 2 of the Genetic Analysis Workshop 17 simulated data on unrelated individuals in an attempt to map phenotype Q2. However, none of the selected SNPs are in genes that are disease-causing. This may be due to the weak effect that each genetic factor has on Q2.
机译:传统上,已经通过标准化的统计数据评估了遗传关联与标记的重要性,以使它们的无效分布符合某些已知的分布。在此标准化过程中通常需要分配假设。基于观察到的表型保持不变而与所研究的标记物无关,我们提出了不需要这种标准化的简单统计数据。我们提出了重新采样程序,以评估该统计信息在全基因组范围内的重要性。此方法已应用于在不相关的个​​人上复制“遗传分析研讨会” 17中的2个模拟数据,以尝试绘制Q2型。但是,所选的SNP均不在致病基因中。这可能是由于每个遗传因素对Q2的影响较弱。

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