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Bayes factors in complex genetics.

机译:复杂遗传学中的贝叶斯因素。

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摘要

The past few years have seen tremendous progress in our understanding of the genetics underlying complex disease, with associated variants being identified in dozens of traits. Despite the fact that this growing body of empirical evidence unequivocally shows the necessity for extreme levels of significance and large samples sizes, the reasoning behind these requirements is not always appreciated. As genome-wide association studies reach the limits of their resolution in the search for rarer and weaker effects, the need for appropriate design and interpretation will become ever more important. If the genetic analysis of complex disease is to avoid accumulating false positive claims, as it has in the past, then researchers will need to allow for less tangible variables such as power and prior odds rather than relying exclusively on significance when assessing the results of these studies. In this review, the basic foundations of association testing are explained from a Bayesian perspective and the potential benefits of Bayes factors as a means of measuring the weight of evidence in support of an association are described.
机译:在过去的几年中,我们对复杂疾病的遗传学有了深刻的了解,并在数十个性状中发现了相关的变异。尽管越来越多的经验证据明确表明了极端重要性水平和大样本量的必要性,但这些要求背后的原因并不总是被人们所理解。随着全基因组关联研究在寻求更罕见和更弱的影响时达到其分辨率的极限,对适当的设计和解释的需求将变得越来越重要。如果像过去那样对复杂疾病进行基因分析以避免积累假阳性主张,那么研究人员将需要考虑较不明显的变量,例如功效和先验赔率,而不是在评估这些结果时仅依赖于重要性学习。在这篇综述中,从贝叶斯的角度解释了关联测试的基本基础,并描述了贝叶斯因子作为衡量证据权重以支持关联的一种手段的潜在好处。

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