tooluniverse-structural-variant-analysis

Structural variant (SV) clinical interpretation: deletions.

What this skill does for you

Structural variant (SV) clinical interpretation: deletions, duplications, inversions, translocations, complex rearrangements. Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores, gnomAD frequencies, and ClinVar evidence. Produces 5-tier classification with explicit per-criterion evidence. Use for clinical genomics SV review, dosage-sensitivity assessment, breakpoint analysis, and CNV pathogenicity calls. Gene-dosage-driven reasoning.

Quoted from the skill description in the pinned source

Who made it

Publishermims-harvard

Repositorytooluniverse

Installs363as of Sep 27, 2026

Use it with Edge

Set up Edge for me: read getedge.cc/SKILL.md and follow it. Then use Edge to load the tooluniverse-structural-variant-analysis skill from mims-harvard/tooluniverse.

Paste it into Claude, ChatGPT, Codex or Cursor.

Or read the skill source first.

Security evidence

Security state at 2026-09-30: reviewed. State definitions. This records static evidence for this revision; live load eligibility is checked again.

3 static scans, 0 counted findings. The listed scanners recorded the results shown for this package revision.

Scanner	Date	Result
Edge static checks	2026-09-27	Pass
Cisco skill-scanner	2026-09-27	Pass
Semgrep Edge rules	2026-09-27	Pass

Static scans check the code, not how well the skill works.

Scanner scope, raw findings and mirrored provider records

Edge static checks (Edge-run): edge-static/1.0.1. Scope: Static patterns for remote execution, credentials with network sends, obfuscation, prompt overrides, hidden Unicode, binaries and persistence. Revision: 40aabf8fbe7b153061f76eeb4be70415dc6f1126. Raw findings: . Counted findings: .

Cisco skill-scanner (Edge-run): cisco-skill-scanner/2.1.0. Scope: Local static, YARA, pipeline and behavioral analyzers; no LLM or AI Defense analysis. Revision: 40aabf8fbe7b153061f76eeb4be70415dc6f1126. Raw findings: 1. Counted findings: .

Semgrep Edge rules (Edge-run): semgrep/1.178.0+edge-rules.c15016a36fd3+offline-v1. Scope: Six Edge-authored static rules with Semgrep CE; offline execution and metrics disabled. Semgrep-maintained rules excluded. Revision: 40aabf8fbe7b153061f76eeb4be70415dc6f1126. Raw findings: . Counted findings: .

Source and licence

Repository: https://github.com/mims-harvard/tooluniverse
Pinned skill file: View source at revision
Revision: 40aabf8fbe7b153061f76eeb4be70415dc6f1126
Package hash: sha256:170366ff417e4ca58ee14c904e4e9f4f34ac4f9c75e9ab6963a30da1fa8484a6
Licence: Apache-2.0