clinvar

Official

Build and inspect ClinVar evidence for variant analysis.

Authorexon-research
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill provides the ability to build and inspect ClinVar evidence for variant analysis, helping users understand clinical labels, carrier context, and drug-response rows.

Core Features & Use Cases

  • ClinVar Evidence Analysis: Build candidate landscapes from exact ClinVar matches.
  • Variant Matching: Materialize exact ClinVar matches for comparable Active Genome Index variants.
  • Candidate Inventory: Build a deterministic candidate inventory and candidate review groups from exact ClinVar matches.
  • Use Case: When a user needs to understand the clinical significance of a variant, this Skill can be used to analyze ClinVar evidence and provide insights into the variant's potential impact.

Quick Start

Use the clinvar skill to match variants in the Active Genome Index against ClinVar data.

Dependency Matrix

Required Modules

clinvar-grch38clinvar-grch37

Components

scriptsreferences

💻 Claude Code Installation

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Please help me install this Skill:
Name: clinvar
Download link: https://github.com/exon-research/genomi/archive/main.zip#clinvar

Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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