bGWAS_R

bGWAS_R implements Bayesian genome-wide association analyses in R that integrate priors derived from related-trait GWAS via multivariable Mendelian randomization to improve detection of direct genetic effects and disentangle direct versus mediated biological pathways.


Key Features:

  • Bayesian Framework: Employs a Bayesian statistical framework to derive informative priors for genetic associations by incorporating prior knowledge about related risk factors and their causal effects on the trait.
  • Leveraging Related Studies: Utilizes published GWAS data from related traits to inform prior distributions through multivariable Mendelian randomization estimating causal effect sizes.
  • Comprehensive Output: Produces Bayes Factors, posterior distributions/effects, and estimates of direct genetic effects.
  • Dissection of Biological Mechanisms: Separates direct and indirect (mediated) effects of genetic variants to clarify biological pathways influencing traits.

Scientific Applications:

  • Increasing Statistical Power: Incorporates prior information to enhance power for detecting genetic associations, particularly when sample sizes are limited.
  • Understanding Genetic Architecture: Aids in distinguishing direct versus mediated variant effects to inform models of trait etiology.
  • Cross-Study Integration: Leverages existing GWAS summary data from related studies to inform priors and enable cross-study analytical integration.

Methodology:

Prior derivation via multivariable Mendelian randomization to obtain causal effect estimates from related traits; Bayesian inference combining these informative priors with observed GWAS data to compute Bayes Factors and posterior distributions; decomposition of effects to separate direct from indirect (mediated) genetic effects.

Topics

Details

License:
GPL-2.0
Tool Type:
library
Programming Languages:
R
Added:
1/18/2021
Last Updated:
2/4/2021

Operations

Publications

Mounier N, Kutalik Z. bGWAS: an R package to perform Bayesian genome wide association studies. Bioinformatics. 2020;36(15):4374-4376. doi:10.1093/bioinformatics/btaa549. PMID:32470106. PMCID:PMC7520046.

PMID: 32470106
PMCID: PMC7520046
Funding: - Swiss National Science Foundation: 310030-189147, 31003A-143914