variant-evidence

Official

Query variant and gene evidence, empower personal interpretations.

Authorexon-research
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill simplifies the process of answering questions about genetic variants and genes by providing access to detailed context and evidence, facilitating personal interpretations without requiring the user to sift through extensive data manually.

Core Features & Use Cases

  • Answer Specific Genetic Questions: Offers detailed answers to specific questions about rsIDs, alleles, genes, genomic regions, and genotypes.
  • Active Genome Index Utilization: Leverages personal genetic data from an Active Genome Index to provide personalized answers.
  • Public Evidence Access: Accesses public genetics evidence to provide context beyond personal data.
  • Use Case: When a user has a genetic question, such as 'Do I carry a particular allele that could be linked to a health condition?', the skill can provide an evidence-based answer that includes both the user's personal genetic information and relevant public evidence.

Quick Start

Ask about a specific variant, such as 'What does my genetic makeup say about my risk for breast cancer?'

Dependency Matrix

Required Modules

None required

Components

scriptsreferencesassets

💻 Claude Code Installation

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

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