tooluniverse-regulatory-variant-analysis
COMPUTE, DON'T DESCRIBE
When analysis requires computation (statistics, data processing, scoring, enrichment), write and run Python code via Bash. Don't describe what you would do — execute it and report actual results. Use ToolUniverse tools to retrieve data, then Python (pandas, scipy, statsmodels, matplotlib) to analyze it.
Regulatory Variant Analysis Skill
Systematic regulatory variant interpretation: discover trait associations from GWAS, map eQTL effects, annotate chromatin context, assess regulatory element overlap, and produce evidence-graded functional impact predictions for non-coding variants.
When to Use
- "What GWAS associations exist for rs12913832?"
- "Find eQTLs for the APOE locus in brain tissue"
- "What regulatory elements overlap this variant region?"
- "Which SNPs are associated with type 2 diabetes from GWAS?"
- "Is this intronic variant in an active enhancer?"
- "What is the RegulomeDB score for rs429358?"
- "Find ENCODE histone marks at the BRCA1 promoter region"
- "Map trait ontology terms for 'blood pressure' to EFO IDs"
NOT for (use other skills instead):
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