tooluniverse-pathway-disease-genetics

tooluniverse-pathway-disease-genetics is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 97 tokens per session (2,475 once invoked), scanned A, original, Apache-2.0.

A genetics-to-biology analysis that connects disease-associated DNA variants to likely causal genes, biological pathways, and existing drug targets. It uses pathway databases such as Reactome, KEGG, and WikiPathways.

In plain words
What is it for?
Use it to interpret GWAS findings, investigate disease mechanisms, map variants through genes to pathways, and find drug targets supported by genetic evidence.
Why use it?
A gene linked to a disease does not by itself explain the affected biological process or whether it can be targeted by a drug. This analysis helps build that chain of evidence.

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 interpret GWAS findings, investigate disease mechanisms, map variants through genes to pathways, and find drug targets supported by genetic evidence.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics
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-pathway-disease-genetics
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-pathway-disease-genetics

README.md
[![agentmods](https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics/github.svg)](https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics)
Your own site
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics/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-pathway-disease-genetics

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-pathway-disease-genetics.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 97 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 2,475 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 $0.00097 $0.02475
Opus 5.5 $0.00039 $0.00990
Sonnet 5.5 $0.00019 $0.00495
Haiku 4.5 $0.00010 $0.00248

Measured 1mo ago against content hash ba6126adcbda, method: parsed. Prices are Anthropic first-party input rates as of 2026-10-07, from the pricing page.

Security

Grade A, and why

tooluniverse-pathway-disease-genetics 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-pathway-disease-genetics/SKILL.md · 164 lines

How it starts

The opening of the file, as written. The whole thing — 164 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.

Pathway-Disease Genetics: GWAS to Drug Targets via Pathways

Connect genome-wide association study (GWAS) variants to biological pathways for mechanistic understanding and drug target discovery.

When to Use

  • "What pathways are disrupted in [disease] based on GWAS?"
  • "Which GWAS genes for [trait] are in druggable pathways?"
  • "Map [SNP/variant] to its causal gene and pathway"
  • "Find drug targets from GWAS data for [disease]"
  • "What is the eQTL evidence for [gene] in [tissue]?"

Core Reasoning Principles

Gene-to-Pathway Reasoning

A gene found in GWAS doesn't tell you which pathway is dysregulated. To connect gene -> pathway -> disease mechanism, ask: what biological process does this gene participate in? Use Reactome/KEGG to find pathways, then ask: which of these pathways is relevant to the disease phenotype?

For example, TCF7L2 is the strongest T2D GWAS gene. It participates in the Wnt signaling pathway. The question is then: how does disrupted Wnt signaling impair beta-cell function or insulin secretion? That reasoning step — from pathway membership to disease mechanism — requires combining pathway data with tissue expression (GTEx) and disease biology.

Non-coding GWAS variants (the majority) rarely affect the nearest gene. They act through regulatory elements that alter expression of genes sometimes hundreds of kilobases away. Always check eQTL evidence before assuming the nearest gene is causal.

Pathway Convergence

Multiple disease genes mapping to the same pathway is stronger evidence than a single gene. If 5 GWAS hits for a disease all map to the NF-kB pathway, that is strong mechanistic evidence — the pathway is likely causal, not just coincidentally hit. If GWAS genes scatter across unrelated pathways, the mechanism is unclear, and you may need to look at upstream regulators or gene network hubs that connect the scattered genes.

Read the full file on GitHub · 164 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 First seen · 164 lines · 97 tokens per session scan A ba6126adcbda

Subscribe to this mod's changes

tooluniverse-pathway-disease-genetics is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,744 stars, last pushed yesterday), licensed Apache-2.0. It adds 97 tokens to every session and 2,475 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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