{"title":"GWASBrewer:模拟真实 GWAS 摘要统计的 R 软件包","authors":"Jean Morrison","doi":"10.1002/gepi.22594","DOIUrl":null,"url":null,"abstract":"<p>Many statistical genetics analysis methods make use of GWAS summary statistics. Best statistical practice requires evaluating these methods in realistic simulation experiments. However, simulating summary statistics by first simulating individual genotype and phenotype data is extremely computationally demanding. This high cost may force researchers to conduct overly simplistic simulations that fail to accurately measure method performance. Alternatively, summary statistics can be simulated directly from their theoretical distribution. Although this is a common need among statistical genetics researchers, no software packages exist for comprehensive GWAS summary statistic simulation. We present <span>GWASBrewer</span>, an open source R package for direct simulation of GWAS summary statistics. We show that statistics simulated by \n<span>GWASBrewer</span> have the same distribution as statistics generated from individual level data, and can be produced at a fraction of the computational expense. Additionally, \n<span>GWASBrewer</span> can simulate standard error estimates, something that is typically not done when sampling summary statistics directly. \n<span>GWASBrewer</span> is highly flexible, allowing the user to simulate data for multiple traits connected by causal effects and with complex distributions of effect sizes. We demonstrate example uses of \n<span>GWASBrewer</span> for evaluating Mendelian randomization, polygenic risk score, and heritability estimation methods.</p>","PeriodicalId":12710,"journal":{"name":"Genetic Epidemiology","volume":"49 1","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gepi.22594","citationCount":"0","resultStr":"{\"title\":\"GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics\",\"authors\":\"Jean Morrison\",\"doi\":\"10.1002/gepi.22594\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Many statistical genetics analysis methods make use of GWAS summary statistics. Best statistical practice requires evaluating these methods in realistic simulation experiments. However, simulating summary statistics by first simulating individual genotype and phenotype data is extremely computationally demanding. This high cost may force researchers to conduct overly simplistic simulations that fail to accurately measure method performance. Alternatively, summary statistics can be simulated directly from their theoretical distribution. Although this is a common need among statistical genetics researchers, no software packages exist for comprehensive GWAS summary statistic simulation. We present <span>GWASBrewer</span>, an open source R package for direct simulation of GWAS summary statistics. We show that statistics simulated by \\n<span>GWASBrewer</span> have the same distribution as statistics generated from individual level data, and can be produced at a fraction of the computational expense. Additionally, \\n<span>GWASBrewer</span> can simulate standard error estimates, something that is typically not done when sampling summary statistics directly. \\n<span>GWASBrewer</span> is highly flexible, allowing the user to simulate data for multiple traits connected by causal effects and with complex distributions of effect sizes. We demonstrate example uses of \\n<span>GWASBrewer</span> for evaluating Mendelian randomization, polygenic risk score, and heritability estimation methods.</p>\",\"PeriodicalId\":12710,\"journal\":{\"name\":\"Genetic Epidemiology\",\"volume\":\"49 1\",\"pages\":\"\"},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-10-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/gepi.22594\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetic Epidemiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/gepi.22594\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetic Epidemiology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/gepi.22594","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics
Many statistical genetics analysis methods make use of GWAS summary statistics. Best statistical practice requires evaluating these methods in realistic simulation experiments. However, simulating summary statistics by first simulating individual genotype and phenotype data is extremely computationally demanding. This high cost may force researchers to conduct overly simplistic simulations that fail to accurately measure method performance. Alternatively, summary statistics can be simulated directly from their theoretical distribution. Although this is a common need among statistical genetics researchers, no software packages exist for comprehensive GWAS summary statistic simulation. We present GWASBrewer, an open source R package for direct simulation of GWAS summary statistics. We show that statistics simulated by
GWASBrewer have the same distribution as statistics generated from individual level data, and can be produced at a fraction of the computational expense. Additionally,
GWASBrewer can simulate standard error estimates, something that is typically not done when sampling summary statistics directly.
GWASBrewer is highly flexible, allowing the user to simulate data for multiple traits connected by causal effects and with complex distributions of effect sizes. We demonstrate example uses of
GWASBrewer for evaluating Mendelian randomization, polygenic risk score, and heritability estimation methods.
期刊介绍:
Genetic Epidemiology is a peer-reviewed journal for discussion of research on the genetic causes of the distribution of human traits in families and populations. Emphasis is placed on the relative contribution of genetic and environmental factors to human disease as revealed by genetic, epidemiological, and biologic investigations.
Genetic Epidemiology primarily publishes papers in statistical genetics, a research field that is primarily concerned with development of statistical, bioinformatical, and computational models for analyzing genetic data. Incorporation of underlying biology and population genetics into conceptual models is favored. The Journal seeks original articles comprising either applied research or innovative statistical, mathematical, computational, or genomic methodologies that advance studies in genetic epidemiology. Other types of reports are encouraged, such as letters to the editor, topic reviews, and perspectives from other fields of research that will likely enrich the field of genetic epidemiology.