IntAssoPlot

IntAssoPlot integrates genome-wide association study (GWAS) P-values, gene structure, and linkage disequilibrium (LD) matrices into combined visualizations in an R package to support interpretation of association signals and identification of quantitative trait loci (QTL).


Key Features:

  • Integrated visualization: Plots GWAS P-values on a -log10 scale together with gene structure and LD matrices in a single view.
  • Flexible LD calculation: Allows plotting using LD matrices calculated from genotypic markers that differ from those used in the association analysis, including markers derived from DNA-Seq for RNA-Seq based GWAS.
  • Publication-ready output: Produces figure-quality visualizations suitable for dissemination and publication.
  • Biological insight extraction: Enables identification of loci exceeding genome-wide significance thresholds, nearby genes, and the extent of LD in selected regions.

Scientific Applications:

  • QTL mapping and interpretation: Supports identification and contextualization of quantitative trait loci from GWAS results.
  • LD and recombination analysis: Facilitates assessment of linkage disequilibrium and exploration of historical and evolutionary recombinations at the population level.
  • Gene-contextualized association analysis: Enables evaluation of association signals in the context of gene structure to prioritize candidate genes near significant loci.

Methodology:

Creates a main-panel plot that links GWAS P-values on a -log10 scale with gene structure and LD matrices via connecting lines and can use LD matrices calculated from alternative genotypic marker sets (e.g., DNA-Seq markers distinct from association markers).

Topics

Details

License:
GPL-3.0
Tool Type:
library
Programming Languages:
R
Added:
1/18/2021
Last Updated:
2/5/2021

Operations

Publications

He F, Ding S, Wang H, Qin F. IntAssoPlot: An R Package for Integrated Visualization of Genome-Wide Association Study Results With Gene Structure and Linkage Disequilibrium Matrix. Frontiers in Genetics. 2020;11. doi:10.3389/fgene.2020.00260. PMID:32265990. PMCID:PMC7100855.

PMID: 32265990
PMCID: PMC7100855
Funding: - National Natural Science Foundation of China: 31701062, 31701439