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利用遗传数据加强观察性研究中的因果推断。

Using genetic data to strengthen causal inference in observational research.

机构信息

Department of Clinical, Educational and Health Psychology, University College London, London, UK.

Social, Genetic, and Developmental Psychiatry, King's College London, De Crespigny Park, London, UK.

出版信息

Nat Rev Genet. 2018 Sep;19(9):566-580. doi: 10.1038/s41576-018-0020-3.

Abstract

Causal inference is essential across the biomedical, behavioural and social sciences.By progressing from confounded statistical associations to evidence of causal relationships, causal inference can reveal complex pathways underlying traits and diseases and help to prioritize targets for intervention. Recent progress in genetic epidemiology - including statistical innovation, massive genotyped data sets and novel computational tools for deep data mining - has fostered the intense development of methods exploiting genetic data and relatedness to strengthen causal inference in observational research. In this Review, we describe how such genetically informed methods differ in their rationale, applicability and inherent limitations and outline how they should be integrated in the future to offer a rich causal inference toolbox.

摘要

因果推断在生物医学、行为和社会科学中至关重要。通过从混杂的统计关联推进到因果关系的证据,因果推断可以揭示特征和疾病背后的复杂途径,并有助于为干预目标提供优先级。遗传流行病学方面的最新进展,包括统计创新、大量基因分型数据集和用于深度数据挖掘的新型计算工具,促进了利用遗传数据和相关性来加强观察性研究中因果推断的方法的强烈发展。在这篇综述中,我们描述了这些遗传信息丰富的方法在原理、适用性和内在局限性方面的差异,并概述了未来如何整合这些方法,以提供丰富的因果推断工具包。

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