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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Journal
Genetic Epidemiology
Published
2024-10-06
DOI
https://doi.org/10.1002/gepi.22594
Citations
1
Primary Topic
Genetic and phenotypic traits in livestock
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article
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0.55
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article

GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics

Jean Morrison
1 citations
Genetic Epidemiology
Genetic and phenotypic traits in livestock
0.55
article

GWASBrewer: An R Package for Simulating Realistic GWAS Summary Statistics

Jean Morrison
article en
1 citations

Abstract

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.

Genetic EpidemiologyVol. 49(1)
University of Michigan (US)
Partnerships for the goals
Openalex Percentile: Top 25%
Genetic and phenotypic traits in livestock
0.55
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