GWASBrewer:模拟真实 GWAS 摘要统计的 R 软件包

IF 1.7 4区 医学 Q3 GENETICS & HEREDITY
Jean Morrison
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引用次数: 0

摘要

许多统计遗传学分析方法都使用了 GWAS 摘要统计。最佳统计实践要求在实际模拟实验中评估这些方法。然而,通过首先模拟单个基因型和表型数据来模拟汇总统计量对计算要求极高。这种高成本可能会迫使研究人员进行过于简单的模拟,从而无法准确衡量方法的性能。另一种方法是直接从理论分布模拟汇总统计量。虽然这是统计遗传学研究人员的共同需求,但目前还没有软件包可用于全面的 GWAS 概要统计模拟。我们介绍了 GWASBrewer,这是一个直接模拟 GWAS 概要统计量的开源 R 软件包。我们的研究表明,GWASBrewer 模拟的统计量与从个体水平数据生成的统计量具有相同的分布,而且只需花费很少的计算费用即可生成。此外,GWASBrewer 还能模拟标准误差估计值,而这在直接对汇总统计数据进行采样时通常是做不到的。GWASBrewer 非常灵活,允许用户模拟由因果效应连接的多个性状的数据,以及效应大小的复杂分布。我们将举例说明 GWASBrewer 在评估孟德尔随机化、多基因风险评分和遗传率估计方法方面的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics

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.

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来源期刊
Genetic Epidemiology
Genetic Epidemiology 医学-公共卫生、环境卫生与职业卫生
CiteScore
4.40
自引率
9.50%
发文量
49
审稿时长
6-12 weeks
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.
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