PLEIO

PLEIO identifies pleiotropic loci by jointly analyzing GWAS summary statistics across multiple binary and quantitative traits to detect genetic variants that influence multiple phenotypes.

Key Features:

• Joint Analysis Framework: Uses a summary-statistic-based framework for the joint analysis of multiple traits, including binary and quantitative traits with differing units.
• Accounting for Genetic Complexity: Incorporates genetic correlations and trait heritabilities into association tests to increase power to detect pleiotropic loci.
• Interpretation and Visualization Tools: Provides interpretation and visualization functionality to characterize patterns of association at identified loci.

Scientific Applications:

• Cross-trait discovery: Enables identification of shared genetic influences across related biological pathways by integrating multiple phenotypes, and was applied to 18 cardiovascular-related traits to identify 20 novel pleiotropic loci with distinct patterns of associations.

Methodology:

Operates on GWAS summary statistics and performs joint analysis across traits while explicitly modeling genetic correlations and trait heritabilities.