{"enrichment":{"faq":[{"a":"tooluniverse-population-genetics provides integrated allele frequency lookup across gnomAD and 1000 Genomes cohorts. Search by variant position or gene name to retrieve population-level frequencies stratified by ancestry group, enabling cross-population comparison and identification of rare or population-specific variants.","q":"How do I look up allele frequency in gnomAD and 1000 Genomes with tooluniverse-population-genetics?"},{"a":"Yes. tooluniverse-population-genetics includes Hardy-Weinberg equilibrium testing and calculation of population genetics statistics. Input genotype counts or allele frequencies to assess deviation from equilibrium, detect population substructure, or identify potential genotyping artifacts.","q":"Can tooluniverse-population-genetics test Hardy-Weinberg equilibrium?"},{"a":"tooluniverse-population-genetics integrates GWAS Catalog data to retrieve published associations between genetic variants and diseases or traits. Query by variant, gene, or phenotype to interpret genetic signals, review effect sizes, and link to original studies.","q":"What GWAS associations and disease trait signals does tooluniverse-population-genetics find?"},{"a":"tooluniverse-population-genetics combines constraint metrics (pLI, LOEUF), functional annotation (VEP), and clinical databases (ClinVar) to evaluate pathogenicity. Cross-reference variant consequences, population frequency, and expert classifications to support clinical interpretation.","q":"How does tooluniverse-population-genetics assess variant pathogenicity?"},{"a":"tooluniverse-population-genetics supports Fst divergence analysis, ancestry inference, and evolutionary constraint scoring. Examine selection pressure, population differentiation, and haplotype diversity across cohorts to characterize population structure and evolutionary patterns.","q":"Can I analyze population structure and evolutionary constraint with this tool?"},{"a":"tooluniverse-population-genetics provides gene constraint scores (pLI, LOEUF), variant consequence predictions (VEP), regulatory scoring (RegulomeDB), and pathogenicity measures (CADD). Combine these annotations to prioritize variants for functional or clinical follow-up.","q":"What constraint scores and functional annotations are available?"}],"shadow_tags":["allele-frequency-databases","statistical-genetics","variant-annotation-tools","population-stratification","evolutionary-genomics","disease-association-mapping","constraint-metrics","clinical-variant-interpretation","ancestry-aware-analysis","quantitative-genetics"],"summary_rewrite":"Analyze genetic variation at the population level using integrated access to gnomAD, 1000 Genomes, GWAS Catalog, and clinical variant databases. Compute Hardy-Weinberg equilibrium, Fst divergence, and constraint metrics to interpret allele frequencies, disease associations, and evolutionary patterns across ancestry groups."},"files":[{"bytes":21630,"path":"skills/tooluniverse-population-genetics/SKILL.md","sha256":"c4eca3d5f349f13bdf95ba6a64e62e0b488c1e700ad09af7badc9b1a6c8413bc","url":"https://skillfed.io/files/mims-harvard/ToolUniverse/tooluniverse-population-genetics/f4054624/SKILL.md"}],"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics","links":{"html":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-population-genetics","md":"https://skillfed.io/mims-harvard/ToolUniverse/tooluniverse-population-genetics.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-population-genetics","publisher":"mims-harvard","stars":1595},"relations":{"similar":[{"id":"mims-harvard/ToolUniverse/tooluniverse-population-genetics-1000genomes"},{"id":"mims-harvard/ToolUniverse/tooluniverse-polygenic-risk-score"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-snp-interpretation"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-trait-to-gene"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-finemapping"},{"id":"mims-harvard/ToolUniverse/tooluniverse-gwas-study-explorer"},{"id":"jaechang-hits/SciAgent-Skills/plink2-gwas-analysis"},{"id":"jaechang-hits/SciAgent-Skills/bcftools-variant-manipulation"},{"id":"mims-harvard/ToolUniverse/tooluniverse"},{"id":"synthetic-sciences/openscience/gwas-database"}]},"slug":{"owner":"mims-harvard","repo":"ToolUniverse","skill":"tooluniverse-population-genetics"},"version":"f4054624"}