tooluniverse-regulatory-variant-analysis

tooluniverse-regulatory-variant-analysis is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 104 tokens per session (5,089 once invoked), scanned A, original, Apache-2.0.

A workflow for interpreting variants outside protein-coding regions by combining genetic associations, gene regulation data, and regulatory annotations.

In plain words
What is it for?
Use it to study GWAS hits, connect variants to genes through eQTLs, inspect regulatory elements, and assess possible effects on gene control.
Why use it?
Non-coding variants can affect gene activity without changing a protein, so their possible effects require evidence from sources such as GWAS, eQTL, chromatin, and transcription-factor data.

Skill for Claude Code

Written for Claude Code: disable-model-invocation in frontmatter.

Part of the tooluniverse plugin — 162 skills, 8 commands, 1 agent, 1 hook, 1 MCP server shipped together

Good fit Use it to study GWAS hits, connect variants to genes through eQTLs, inspect regulatory elements, and assess possible effects on gene control.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis
About the project

ToolUniverse is a collection of tools, interfaces, and supporting components for building AI systems that perform scientific work. It is for developers creating AI scientist agents that use APIs, databases, machine-learning tools, and domain-specific utilities. The catalogue includes skills, commands, an MCP server, an agent, and a hook for working with the ecosystem.

mims-harvard/ToolUniverse · 1,744 stars · on GitHub · aiscientist.tools

Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add mims-harvard/ToolUniverse --skill tooluniverse-regulatory-variant-analysis
Clone the repo
git clone --depth 1 https://github.com/mims-harvard/ToolUniverse

Made for: Claude Code.

Or install tooluniverse, the plugin that ships this one along with the rest of its 162 skills, 8 commands, 1 agent, 1 hook, 1 MCP server.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for tooluniverse-regulatory-variant-analysis

README.md
[![agentmods](https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis/github.svg)](https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis)
Your own site
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for tooluniverse-regulatory-variant-analysis

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-regulatory-variant-analysis.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 104 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 5,089 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. A grade says what 26 rules found in the file — not that it is safe. Third-party audits
  • NVIDIA SkillSpector pass 7 Sept 2026
How audits are shown
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00104 $0.05089
Opus 5.5 $0.00042 $0.02036
Sonnet 5.5 $0.00021 $0.01018
Haiku 4.5 $0.00010 $0.00509

Measured 1mo ago against content hash 74eb9fcc0315, method: parsed. Prices are Anthropic first-party input rates as of 2026-10-07, from the pricing page.

Security

Grade A, and why

tooluniverse-regulatory-variant-analysis scanned grade A with 0 findings against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 1mo ago.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

plugin/skills/tooluniverse-regulatory-variant-analysis/SKILL.md · 286 lines

How it starts

The opening of the file, as written. The whole thing — 286 lines — stays where its author put it; the contents beside it link to each section on GitHub.

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?"
  • "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"
  • "This variant has no GWAS/eQTL/ENCODE hits at all — does a sequence model predict any effect?"
  • "Scan this candidate regulatory region to find which single base change matters most"

NOT for (use other skills instead):

  • Coding variant pathogenicity -> Use tooluniverse-variant-interpretation
  • Full clinical variant classification (ACMG) -> Use tooluniverse-variant-interpretation
  • Gene-disease associations (not variant-specific) -> Use tooluniverse-gene-disease-association
  • Pharmacogenomic variant annotation -> Use tooluniverse-pharmacogenomics
  • Epigenomics data processing (BED/narrowPeak files) -> Use tooluniverse-epigenomics

Non-Coding Variant Impact Reasoning

When evaluating a non-coding variant, build evidence across five questions. The first four are annotation-based (what's already known to be at this position, in this population); the fifth is model-based (what the sequence itself predicts, whether or not anything is annotated there yet) — they answer different questions and should corroborate, not substitute for, each other.

Read the full file on GitHub · 286 lines

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 1mo ago Changed · +82 lines · +20 tokens per session 74eb9fcc0315
  2. 1mo ago First seen · 204 lines · 84 tokens per session scan A 649ba8133ef6

Subscribe to this mod's changes

tooluniverse-regulatory-variant-analysis is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,744 stars, last pushed yesterday), licensed Apache-2.0. It adds 104 tokens to every session and 5,089 once invoked, about $0.0004 per session on Opus 5.5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-03.

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