Tooluniverse Polygenic Risk Score

What it does

This skill calculates a polygenic risk score (PRS), which is a prediction of genetic risk, not a diagnosis. It extracts genome-wide significant variants from GWAS Catalog, builds weighted PRS models using effect sizes, and calculates individual risk scores based on genotype data. The resulting PRS is interpreted as population percentiles and risk categories to provide personalized insights into potential health risks.

When to use it

• Calculate genetic risk for complex diseases like type 2 diabetes or coronary artery disease.
• Determine an individual's genetic predisposition to conditions such as Alzheimer’s disease or breast cancer.
• Understand PRS percentile and associated risk categories.
• Build a polygenic risk score model for a specific condition.

Key capabilities

• Extracts genome-wide significant variants from GWAS Catalog.
• Constructs weighted PRS models using effect sizes (beta coefficients).
• Calculates individual risk scores based on genotype data.
• Interprets PRS as population percentiles and risk categories.
• Standardizes raw PRS to z-scores for comparison with the population distribution.

Example prompts

• "Calculate my genetic risk for type 2 diabetes."
• "Build a polygenic risk score for coronary artery disease."
• “What's my genetic predisposition to Alzheimer's disease?”
• "Interpret my PRS percentile for breast cancer risk."

Tips & gotchas

• PRS predicts genetic risk, not disease; a high score does not guarantee development of the condition.
• PRS performance varies significantly across ancestries due to differences in allele frequencies and LD patterns.
• Always consult GWAS Catalog for accurate effect sizes and allele frequencies – do not assume values.