Genomics Inform.  2022 Dec;20(4):e49. 10.5808/gi.22046.

Beta-Meta: a meta-analysis application considering heterogeneity among genome-wide association studies

• Kim G
• Lee Y
• Park JH
• Kim D
• Lee W

• KMID: 2540177
• DOI: http://doi.org/10.5808/gi.22046

Abstract

Many packages for a meta-analysis of genome-wide association studies (GWAS) have beendeveloped to discover genetic variants. Although variations across studies must be considered, there are not many currently-accessible packages that estimate between-study heterogeneity. Thus, we propose a python based application called Beta-Meta which can easilyprocess a meta-analysis by automatically selecting between a fixed effects and a randomeffects model based on heterogeneity. Beta-Meta implements flexible input data manipulation to allow multiple meta-analyses of different genotype-phenotype associations in asingle process. It provides a step-by-step meta-analysis of GWAS for each association inthe following order: heterogeneity test, two different calculations of an effect size and ap-value based on heterogeneity, and the Benjamini-Hochberg p-value adjustment. Thesemethods enable users to validate the results of individual studies with greater statisticalpower and better estimation precision. We elaborate on these and illustrate them with examples from several studies of infertility-related disorders.

Keyword

genome-wide association studies; heterogeneity; meta-analysis; python application; single nucleotide polymorphism