孟德尔随机化
医学
傲慢
孟德尔遗传
因果推理
观察研究
SNP公司
单核苷酸多态性
疾病
遗传学
遗传变异
内科学
基因型
病理
生物
基因
历史
经典
作者
George Davey Smith,Shah Ebrahim
标识
DOI:10.1016/s2213-8587(23)00348-0
摘要
Mendelian randomisation, the initial extended formulation of which appeared 20 years ago,1 uses germline genetic variation to strengthen causal inference regarding modifiable risk factors for disease. In the original formulation, a genetic variant of known function, often a single-nucleotide polymorphism (SNP), was taken to proxy for the exposure. Mendelian randomisation was introduced at a time when it was becoming clear that conventional observational epidemiological studies could produce misleading findings, with randomised controlled trials of the exposures they identified as likely causes of disease yielding null results.
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