tooluniverse-structural-variant-analysis

tooluniverse-structural-variant-analysis is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 103 tokens per session (2,715 once invoked), scanned A, original, Apache-2.0.

A clinical genomics guide for interpreting structural variants—large DNA changes such as deletions, duplications, inversions, and translocations. It classifies their likely clinical significance using evidence from dosage-sensitive genes and medical databases.

In plain words
What is it for?
Use it to interpret structural variants, check ClinGen dosage evidence, compare population frequency and ClinVar records, and produce five-level clinical classifications.
Why use it?
It helps distinguish disease-causing changes from uncertain or likely harmless ones. It also makes the evidence behind each classification explicit and accounts for the exact breakpoints.

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 structural variants, check ClinGen dosage evidence, compare population frequency and ClinVar records, and produce five-level clinical classifications.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-structural-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-structural-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-structural-variant-analysis

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-structural-variant-analysis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-structural-variant-analysis.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 103 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 2,715 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
  • Socket pass 29 Mar 2026
  • Snyk warn 29 Mar 2026
  • 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 $0.00103 $0.02715
Opus 5.5 $0.00041 $0.01086
Sonnet 5.5 $0.00021 $0.00543
Haiku 4.5 $0.00010 $0.00271

Measured 1mo ago against content hash fc4012c93fd3, method: parsed. Prices are Anthropic first-party input rates as of 2026-10-07, from the pricing page.

Security

Grade A, and why

tooluniverse-structural-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-structural-variant-analysis/SKILL.md · 248 lines

How it starts

The opening of the file, as written. The whole thing — 248 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.

Structural Variant Analysis Workflow

Systematic analysis of structural variants (deletions, duplications, inversions, translocations, complex rearrangements) for clinical genomics interpretation using ACMG-adapted criteria.

LOOK UP DON'T GUESS - Always retrieve ClinGen HI/TS scores, gnomAD frequencies, and ClinVar evidence from tools. Do not infer dosage sensitivity from gene function alone.

KEY PRINCIPLES:

  1. Report-first approach - Create SV_analysis_report.md FIRST, then populate progressively
  2. ACMG-style classification - Pathogenic/Likely Pathogenic/VUS/Likely Benign/Benign with explicit evidence
  3. Evidence grading - Grade all findings by confidence level (High/Moderate/Limited)
  4. Dosage sensitivity critical - Gene dosage effects drive SV pathogenicity
  5. Breakpoint precision matters - Exact gene disruption vs dosage-only effects
  6. Population context essential - gnomAD SVs for frequency assessment
  7. English-first queries - Always use English terms in tool calls. Respond in the user's language

Triggers

Use this skill when users:

  • Ask about structural variant interpretation
  • Have CNV data from array or sequencing
  • Ask "is this deletion/duplication pathogenic?"
  • Need ACMG classification for SVs
  • Want to assess gene dosage effects
  • Ask about chromosomal rearrangements
  • Have large-scale genomic alterations requiring interpretation

SV Pathogenicity Reasoning (Start Here)

Before any tool call, apply this reasoning to frame the analysis:

SV pathogenicity depends on what the SV disrupts. A deletion removing an entire gene is likely pathogenic if the gene is haploinsufficient. A duplication is pathogenic if the gene is dosage-sensitive. An inversion is pathogenic only if it disrupts a coding region or regulatory element at the breakpoint.

Read the full file on GitHub · 248 lines

Files

What ships with it

4 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

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 · 248 lines · 103 tokens per session scan A fc4012c93fd3

Subscribe to this mod's changes

tooluniverse-structural-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 103 tokens to every session and 2,715 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.

Related

Other skills, from other repositories

ai-agent-tool-routing

Use when designing or reviewing an AI agent tool registry or MCP router: document parameter schemas, caller authorization, execution limits, replay-safe retries and verification evidence.

sickn33/agentic-awesome-skills · 36 tokens

nanoresearch-writing

Draft a LaTeX research paper from all previous stage outputs.

OpenRaiser/NanoResearch · 17 tokens

construct-toy-examples

Generate and analyze simpler examples that satisfy both the assumptions and the conclusion of a theorem statement or subgoal. Use when you are stuck in reasoning and need simpler examples to regain traction, or when you want to see where the assumptions take effect and gain intuition.

frenzymath/Danus · 57 tokens

obtain-immediate-conclusions

Derive immediate mathematical consequences from a theorem statement or subgoal. Use when starting a new problem, branch, or subgoal, or when cheap progress or a cleaner reformulation is needed before deeper proof search.

frenzymath/Danus · 49 tokens

clinical-research-analysis-framework

Guided workflow for statistical and ML analysis of clinical data. Use when planning or executing research analyses on MIMIC, eICU, or similar EHR data. Ensures methodological rigor through structured consultation, assumption checking, and stepwise execution with audit trails.

hannesill/m4 · 59 tokens

apache-iv-score

Calculate APACHE IV (Acute Physiology and Chronic Health Evaluation IV) score for ICU mortality prediction. Use for severity assessment, hospital mortality prediction, ICU benchmarking, or case-mix adjustment. eICU has pre-computed scores; MIMIC-IV requires custom implementation with diagnosis mapping challenges.

hannesill/m4 · 65 tokens