Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View

Area of Science:

• Genetics
• Bioinformatics
• Systems Biology

Background:

• Phenome-Wide Association Studies (PheWAS) investigate associations between single nucleotide polymorphisms (SNPs) and diverse phenotypes.
• PheWAS complements Genome-Wide Association Studies (GWAS) by exploring a broad range of phenotypes against genetic variations.
• Analyzing complex PheWAS data necessitates effective visualization tools for comprehensive interpretation.

Purpose of the Study:

• To develop a software tool for integrating and visualizing PheWAS results.
• To facilitate the elucidation of both detailed and overarching trends within PheWAS data.
• To enhance the exploration and presentation of complex genotype-phenotype relationships.

Main Methods:

• Development of the PheWAS-View software.
• Integration of SNP, gene, phenotype, and inter-phenotype relationship data.
• Implementation of visualization techniques for exploring PheWAS results.

Main Results:

• PheWAS-View enables visual integration of comprehensive PheWAS data.
• The software allows for the elucidation of both fine-grained details and large-scale trends in PheWAS results.
• Visualization aids in understanding the interrelationships between phenotypes and their genetic associations.

Conclusions:

• PheWAS, enhanced by PheWAS-View, can uncover novel SNP-phenotype relationships and identify pleiotropy.
• The tool offers mechanistic insights and supports hypothesis generation from complex genetic association data.
• PheWAS-View is available for non-commercial research institutions to explore and present PheWAS findings.