Tooluniverse Polygenic Risk Score
This builds polygenic risk scores from GWAS summary statistics, calculating weighted sums across variants to estimate genetic predisposition to complex diseases. It pulls associations from GWAS Catalog and Open Targets, filters for genome-wide significance (p < 5e-8), and standardizes scores to population percentiles. The reasoning strategy is unusually thorough about what PRS actually means: relative risk not diagnosis, ancestry-dependent accuracy, and the massive performance drop when European-trained models hit non-European populations. Use this for risk stratification research or explaining genetic contributions to multifactorial conditions. Just remember it's querying public databases, not running LD clumping or fine-mapping, so you're getting raw associations that would need pruning for production use.
- skills.sh installs
- 351
- GitHub stars
- 1.8K
- last updated
- Aug 21, 2026
Install
$ npx -y skills add mims-harvard/tooluniverse --skill tooluniverse-polygenic-risk-score --agent claude-codeInstalls into .claude/skills of the current project.
Files
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.
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- Repository
- github.com/mims-harvard/tooluniverse
- Categories
- DevOps & CI/CD, Data Science & ML
- First seen
- Jun 3, 2026
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