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遗传效应的因果关系和因果推断。

Causation and causal inference for genetic effects.

机构信息

Department of Applied Mathematics and Computer Science, Ghent University Krijgslaan, 281 S9, 9000 Ghent, Belgium.

出版信息

Hum Genet. 2012 Oct;131(10):1665-76. doi: 10.1007/s00439-012-1208-9. Epub 2012 Aug 3.

Abstract

Over the past three decades, substantial developments have been made on how to infer the causal effect of an exposure on an outcome, using data from observational studies, with the randomized experiment as the golden standard. These developments have reshaped the paradigm of how to build statistical models, how to adjust for confounding, how to assess direct effects, mediated effects and interactions, and even how to analyze data from randomized experiments. The congruence of random transmission of alleles during meiosis and the randomization in controlled experiments/trials, suggests that genetic studies may lend themselves naturally to a causal analysis. In this contribution, we will reflect on this and motivate, through illustrative examples, where insights from the causal inference literature may help to understand and correct for typical biases in genetic effect estimates.

摘要

在过去的三十年中,如何利用观察性研究的数据推断暴露对结果的因果效应已经取得了实质性的进展,以随机实验作为金标准。这些进展改变了构建统计模型的方式、如何调整混杂因素、如何评估直接效应、中介效应和交互作用,甚至如何分析随机实验的数据。减数分裂过程中等位基因随机传递和对照实验/试验中随机化的一致性表明,遗传研究可能自然适用于因果分析。在这篇文章中,我们将反思这一点,并通过举例来说明因果推理文献中的见解如何帮助理解和纠正遗传效应估计中的典型偏差。

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