We present a method to infer on joint regression coefficients obtained from marginal regressions using a reference panel. This type of scenario is common in genetic fine-mapping, where the estimated marginal associations are reported in genomewide association studies (GWAS), and a reference panel is used for inference on the association in a joint regression model. We show that ignoring the uncertainty due to the use of a reference panel instead of the original design matrix, can lead to a severe inflation of false discoveries and a lack of replicable findings. We derive the asymptotic distribution of the estimated coefficients in the joint regression model, and show how it can be used to produce valid inference. We address two settings: inference within regions that are pre-selected, as well as within regions that are selected based on the same data. By means of real data examples and simulations we demonstrate the usefulness of our suggested methodology.
翻译:我们用一个参考面板来推断从边际回归中获得的共同回归系数。这种情景在基因细图中很常见,在全基因组协会研究中报告估计的边际关联,并在一个联合回归模型中使用一个参考面板来推断联合回归系数。我们表明,忽视由于使用参考面板而不是原始设计矩阵而造成的不确定性,可能导致虚假发现严重膨胀和缺乏可复制的发现。我们从联合回归模型中得出估计系数的无药可依分布,并表明如何利用它产生有效的推论。我们讨论了两种情况:预选区域内的推论,以及根据同一数据选定的区域内的推论。我们通过真实数据实例和模拟,展示了我们建议的方法的效用。