PheWAS-ME

PheWAS-ME analyzes multimorbidity patterns in phenome-wide association studies by integrating individual-level genotype data from DNA biobanks with clinical phenotypes extracted from electronic health records to characterize multivariate gene–disease associations.

Key Features:

• Data integration: Integrates individual-level genotype data from DNA biobanks with clinical phenotypes derived from electronic health records (EHRs).
• Multimorbidity analysis: Detects and interrogates complex multivariate gene–disease associations that arise from comorbidities within PheWAS results.
• Custom data input: Accepts custom PheWAS result files and corresponding individual-level genotype and phenotype datasets for tailored analyses.
• Individual-level association analysis: Performs analysis of gene–phenotype associations at the individual level to reveal patterns that influence PheWAS interpretation.

Scientific Applications:

• Precision medicine research: Elucidates how genetic variants associate with multiple clinical phenotypes to inform precision medicine studies.
• Multimorbidity and comorbidity research: Enables investigation of the genetic underpinnings and interactions of comorbid diseases.
• PheWAS result interpretation: Improves interpretability of PheWAS by identifying multivariate association patterns beyond single-phenotype analyses.

Methodology:

Integrates individual-level genotype data with clinical phenotypes recorded in EHRs to explore associations between genetic variants and multiple phenotypes and to highlight multimorbidity patterns.