{"enrichment":{"faq":[{"a":"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.","q":"What phenotypes does rs7903146 associate with in Tooluniverse Phewas?"},{"a":"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.","q":"Does this variant replicate across populations in Tooluniverse Phewas?"},{"a":"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.","q":"How can I identify ancestry-specific genetic effects using Tooluniverse Phewas?"},{"a":"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.","q":"Can Tooluniverse Phewas compare effect sizes across different biobanks?"},{"a":"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.","q":"What is a phenome-wide association scan for a variant?"},{"a":"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.","q":"Does Tooluniverse Phewas support gene-level burden analysis?"}],"shadow_tags":["cross-ancestry-validation","phenome-wide-scanning","biobank-comparison","replication-evidence","ancestry-resolution","pleiotropy-detection","effect-direction-concordance","allele-frequency-stratification","rare-variant-burden","population-specificity"],"summary_rewrite":"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."},"files":[{"bytes":9882,"path":"skills/tooluniverse-phewas/SKILL.md","sha256":"55b8479835f8b7a7eeff08a898440006d3f9d95d404137ce8a0c4fc9f0a45afc","url":"https://skillfed.io/files/mims-harvard/ToolUniverse/tooluniverse-phewas/38888dae/SKILL.md"}],"id":"mims-harvard/ToolUniverse/tooluniverse-phewas","links":{"html":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-phewas","md":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-phewas.md","repo":"https://github.com/mims-harvard/ToolUniverse"},"meta":{"agents_supported":[],"first_seen":"2026-07-28","forks":242,"language":"Python","last_updated":"2026-07-27","license":"Apache-2.0","name":"Tooluniverse Phewas","publisher":"mims-harvard","stars":1595},"relations":{"similar":[{"id":"google-deepmind/science-skills/dbsnp_database"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-snp-interpretation"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-study-explorer"},{"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics-1000genomes"},{"id":"mims-harvard/ToolUniverse/tooluniverse-pharmacogenomics"},{"id":"LeonChaoX/qinyan-academic-skills/gnomad-database"},{"id":"beita6969/ScienceClaw/gnomad-database"},{"id":"jaechang-hits/SciAgent-Skills/dbsnp-database"},{"id":"synthetic-sciences/openscience/clinpgx-database"},{"id":"LeonChaoX/qinyan-academic-skills/clinpgx-database"}]},"slug":{"owner":"mims-harvard","repo":"ToolUniverse","skill":"tooluniverse-phewas"},"version":"38888dae"}