Tooluniverse Phewas
Tooluniverse Phewas inverts the GWAS paradigm by fixing a variant or gene and scanning the entire phenome across four ancestry-matched biobanks plus exome-wide gene-burden data. Query a single rsID to discover all associated phenotypes, compare effect directions and allele frequencies across populations, and distinguish robust replicated signals from ancestry-specific or underpowered findings.
Tooluniverse Phewas looks up all phenotype associations for a variant across European, Finnish, Japanese, and Taiwanese biobanks to identify replicated or ancestry-specific effects.
AI-generated summary based on this skill's SKILL.md
Decision gist · record as of 2026-07-27
Tooluniverse Phewas looks up all phenotype associations for a variant across European, Finnish, Japanese, and Taiwanese biobanks to identify replicated or ancestry-specific effects. Tooluniverse Phewas inverts the GWAS paradigm by fixing a variant or gene and scanning the entire phenome across four ancestry-matched biobanks plus exome-wide gene-burden data. Query a single rsID to discover all associated phenotypes, compare effect directions and allele frequencies across populations, and distinguish robust replicated signals from ancestry-specific or underpowered findings.
Use it when
- Tooluniverse Phewas enables you to determine whether a genetic association replicates across different populations by comparing effect.
- Tooluniverse Phewas supports identification of ancestry-specific or population-specific genetic effects by displaying phenotype.
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Read SKILL.md below before installing (2 files). Open directory: indexed for reading, not audited.
Install
mims-harvard/ToolUniverse/tooluniverse-phewas · repository language: Python
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Frequently asked questions
AI-generated answers based on this skill's SKILL.md and metadata
What phenotypes does rs7903146 associate with in Tooluniverse Phewas?
Tooluniverse Phewas lets you query a single rsID like rs7903146 to discover all associated phenotypes across four ancestry-matched biobanks plus exome-wide gene-burden data. The tool inverts the traditional GWAS approach by fixing your variant and scanning the entire phenome, revealing both well-replicated associations and ancestry-specific signals in a single lookup.
Does this variant replicate across populations in Tooluniverse Phewas?
Tooluniverse Phewas enables you to determine whether a genetic association replicates across different populations by comparing effect sizes and allele frequencies of your variant across cohorts. You can identify robust signals that hold across ancestry groups versus ancestry-specific or population-specific genetic effects that may only appear in certain biobanks.
How can I identify ancestry-specific genetic effects using Tooluniverse Phewas?
Tooluniverse Phewas supports identification of ancestry-specific or population-specific genetic effects by displaying phenotype associations alongside allele frequency and effect direction comparisons across multiple ancestry-matched biobanks. This lets you spot when a variant's association with a trait is strong in one population but weak or absent in another.
Can Tooluniverse Phewas compare effect sizes across different biobanks?
Yes, Tooluniverse Phewas compares effect sizes and allele frequencies of a variant across cohorts including UKB, TOPMed, FinnGen, BBJ, and TPMI. This cross-biobank phenotype lookup helps you evaluate whether associations are consistent in magnitude and direction or driven by population-specific patterns.
What is a phenome-wide association scan for a variant?
Tooluniverse Phewas performs a phenome-wide association scan by inverting the GWAS paradigm: instead of scanning many variants for one phenotype, you fix a single variant or gene and scan the entire phenome. This inverse GWAS approach reveals all traits linked to your rsID or gene, enabling pleiotropy discovery across biobanks.
Does Tooluniverse Phewas support gene-level burden analysis?
Tooluniverse Phewas includes exome-wide gene-burden data alongside single-variant lookups, allowing you to analyze rare coding variant burden for a gene across phenotypes. This gene-level analysis complements rsID queries and helps identify which diseases or traits are linked to coding variants in your gene of interest.
SKILL.md
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Cross-Biobank PheWAS & Replication
A PheWAS is the inverse of a GWAS: a GWAS fixes a phenotype and scans variants; a PheWAS fixes a variant (or gene) and
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skills/tooluniverse-phewas/SKILL.md
skills/tooluniverse-phewas/evals/evals.json
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