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本文引用的文献

1
Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics.从 GWAS 汇总统计数据中同时估计双向因果效应和可遗传混杂。
Nat Commun. 2021 Dec 14;12(1):7274. doi: 10.1038/s41467-021-26970-w.
2
Human Genomics and Drug Development.人类基因组学与药物研发。
Cold Spring Harb Perspect Med. 2022 Feb 1;12(2):a039230. doi: 10.1101/cshperspect.a039230.
3
Mendelian Randomization: Concepts and Scope.孟德尔随机化:概念与范围。
Cold Spring Harb Perspect Med. 2022 Jan 4;12(1):a040501. doi: 10.1101/cshperspect.a040501.
4
Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder.结合多元基因组方法阐明自闭症谱系障碍和注意缺陷多动障碍之间的共病关系。
J Child Psychol Psychiatry. 2021 Nov;62(11):1285-1296. doi: 10.1111/jcpp.13479. Epub 2021 Jul 7.
5
Association Between Administration of IL-6 Antagonists and Mortality Among Patients Hospitalized for COVID-19: A Meta-analysis.COVID-19 住院患者中使用白细胞介素 6 拮抗剂与死亡率的关系:一项荟萃分析。
JAMA. 2021 Aug 10;326(6):499-518. doi: 10.1001/jama.2021.11330.
6
Genetic sensitivity analysis: Adjusting for genetic confounding in epidemiological associations.遗传敏感性分析:在流行病学关联中调整遗传混杂。
PLoS Genet. 2021 Jun 11;17(6):e1009590. doi: 10.1371/journal.pgen.1009590. eCollection 2021 Jun.
7
Actionable druggable genome-wide Mendelian randomization identifies repurposing opportunities for COVID-19.可操作的药物基因组全基因组孟德尔随机化确定了 COVID-19 的再利用机会。
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8
The Meaning of "Cause" in Genetics.遗传学中“原因”的含义。
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A Neanderthal OAS1 isoform protects individuals of European ancestry against COVID-19 susceptibility and severity.一种尼安德特人 OAS1 同工型可保护欧洲血统个体免受 COVID-19 的易感性和严重程度的影响。
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The use of negative control outcomes in Mendelian randomization to detect potential population stratification.孟德尔随机化中使用阴性对照结果来检测潜在的群体分层。
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遗传数据的因果推断:过去、现在和未来。

Causal Inference with Genetic Data: Past, Present, and Future.

机构信息

Division of Psychology and Language Sciences, University College London, London WC1H 0AP United Kingdom.

MRC Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 1TH, United Kingdom.

出版信息

Cold Spring Harb Perspect Med. 2022 Mar 1;12(3):a041271. doi: 10.1101/cshperspect.a041271.

DOI:10.1101/cshperspect.a041271
PMID:34580080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8886738/
Abstract

The set of methods discussed in this collection has emerged from the convergence of two scientific fields-genetics and causal inference. In this introduction, we discuss relevant aspects of each field and show how their convergence arises from the natural experiments that genetics offer. We present introductory concepts useful to readers unfamiliar with genetically informed methods for causal inference. We conclude that existing applications and foreseeable developments should ensure that we rapidly reap the rewards of this relatively new field, not only in terms of our understanding of human disease and development, but also in terms of tangible translational applications.

摘要

本研究集中讨论的方法源于两个科学领域——遗传学和因果推断的融合。在引言部分,我们讨论了每个领域的相关方面,并展示了遗传学提供的自然实验如何促成了它们的融合。我们提出了一些对不熟悉基于遗传学的因果推断方法的读者有用的入门概念。我们的结论是,现有的应用和可预见的发展应该确保我们能够迅速从这个相对较新的领域中获益,不仅在我们对人类疾病和发育的理解方面,而且在切实可行的转化应用方面也是如此。