tooluniverse-polygenic-risk-score
Polygenic Risk Score (PRS) Builder
Build and interpret polygenic risk scores for complex diseases using genome-wide association study (GWAS) data.
Reasoning Strategy
A polygenic risk score predicts genetic risk, not disease. A high PRS means elevated risk relative to the population — it does not mean the person will develop the condition, and a low PRS does not confer immunity. PRS performance varies dramatically across ancestries: a European-derived PRS applied to a West African population can lose 50–70% of its predictive power because the underlying GWAS was trained on European allele frequencies and LD patterns. Effect sizes from discovery GWAS are subject to winner's curse (overestimation in single studies); always prefer weights from large meta-analyses or validated PGS Catalog models. PRS should always be interpreted in the context of non-genetic risk factors — for most complex diseases, environmental factors contribute as much or more than genetics.
LOOK UP DON'T GUESS: Do not assume effect sizes, allele frequencies, or which SNPs are genome-wide significant for a trait — always query GWAS Catalog (gwas_get_associations_for_trait) for actual data. Do not assume a validated PRS model exists for a trait; check PGS Catalog via PubMed search.
Overview
Use Cases:
- "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"
What This Skill Does:
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