Venexia M Walker, Jie Zheng, Tom R Gaunt, George Davey Smith
{"title":"Phenotypic Causal Inference Using Genome-Wide Association Study Data: Mendelian Randomization and Beyond.","authors":"Venexia M Walker, Jie Zheng, Tom R Gaunt, George Davey Smith","doi":"10.1146/annurev-biodatasci-122120-024910","DOIUrl":null,"url":null,"abstract":"<p><p>statistics for genome-wide association studies (GWAS) are increasingly available for downstream analyses. Meanwhile, the popularity of causal inference methods has grown as we look to gather robust evidence for novel medical and public health interventions. This has led to the development of methods that use GWAS summary statistics for causal inference. Here, we describe these methods in order of their escalating complexity, from genetic associations to extensions of Mendelian randomization that consider thousands of phenotypes simultaneously. We also cover the assumptions and limitations of these approaches before considering the challenges faced by researchers performing causal inference using GWAS data. GWAS summary statistics constitute an important data source for causal inference research that offers a counterpoint to nongenetic methods when triangulating evidence. Continued efforts to address the challenges in using GWAS data for causal inference will allow the full impact of these approaches to be realized.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":7.0000,"publicationDate":"2022-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7614231/pdf/EMS167448.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual Review of Biomedical Data Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1146/annurev-biodatasci-122120-024910","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/4/1 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"MATHEMATICAL & COMPUTATIONAL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
statistics for genome-wide association studies (GWAS) are increasingly available for downstream analyses. Meanwhile, the popularity of causal inference methods has grown as we look to gather robust evidence for novel medical and public health interventions. This has led to the development of methods that use GWAS summary statistics for causal inference. Here, we describe these methods in order of their escalating complexity, from genetic associations to extensions of Mendelian randomization that consider thousands of phenotypes simultaneously. We also cover the assumptions and limitations of these approaches before considering the challenges faced by researchers performing causal inference using GWAS data. GWAS summary statistics constitute an important data source for causal inference research that offers a counterpoint to nongenetic methods when triangulating evidence. Continued efforts to address the challenges in using GWAS data for causal inference will allow the full impact of these approaches to be realized.
期刊介绍:
The Annual Review of Biomedical Data Science provides comprehensive expert reviews in biomedical data science, focusing on advanced methods to store, retrieve, analyze, and organize biomedical data and knowledge. The scope of the journal encompasses informatics, computational, artificial intelligence (AI), and statistical approaches to biomedical data, including the sub-fields of bioinformatics, computational biology, biomedical informatics, clinical and clinical research informatics, biostatistics, and imaging informatics. The mission of the journal is to identify both emerging and established areas of biomedical data science, and the leaders in these fields.