Individual skill
tooluniverse-regulatory-variant-analysis
Non-coding/regulatory variant interpretation — GWAS association lookup, eQTL evidence (GTEx), chromatin state (ENCODE), regulatory variant scoring (RegulomeDB, CADD), TF-binding disruption, and sequence-based deep-learning prediction (AlphaGenome/AlphaGenome Atlas) for when annotation databases are silent. Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning. Distinct from coding-variant tools.
plugin/skills/tooluniverse-regulatory-variant-analysis/SKILL.md
Source commit 5598a9fc97e32964fe9b703818e7d0747142f179
What was checked
- Matches the observed repository HEAD
- Yes
- Scanner rules are current
- Yes
- Repository scan complete
- No
- Skill scan complete
- No
- Observed behavior
- Network or broad shell
- Last checked
- Nov 9, 2026
These are observations at the recorded commit, not a guarantee of safety. Review the source before running it.
Install this skill
Choose an agent in your Stack or copy a command below. Commands fetch the pinned commit and copy only this skill directory. Existing destinations are refused. Copying a command does not install anything.
An install command is unavailable: current rules, complete repository and skill scans, an eligible behavior level and a permitted license are required.
Repository context
- Repository stars (not skill ratings)
- 1,780
- Repository last updated
- Nov 8, 2026
- License
- Apache-2.0
Observed agent integration: No specific integration evidence. Standard SKILL.md installation does not imply verified compatibility.
- agents Repository topic
- reasoning-agent Repository topic
- reasoning-language-models Repository topic
- tool-use Repository topic
- ai-agents Repository topic
- ai-scientists Repository topic
- automated-science Repository topic
- co-pilot Repository topic
- co-scientist Repository topic
- ai-for-science Repository topic
- engineering Derived category
- legal Derived category
- education Derived category
Files and excerpt
File metadata and permitted, redacted excerpts come from the recorded scan. Source links are pinned to that commit.
Browse files
Read excerpt
## 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, predict direct sequence-level effects with AlphaGenome/AlphaGenome Atlas, 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?"