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genomi-gnomad

Official

Retrieve allele frequencies from gnomAD for specific variants.

Data & Analytics#variant analysis#gnomAD#allele frequency#genetic data#population stratification
Authorexon-research
Version1.0.0
Installs0

System Documentation

What problem does it solve?

This Skill allows users to fetch public population allele frequencies from gnomAD for a specific variant, aiding in allele frequency, MAF, population stratification, and rarity analysis.

Core Features & Use Cases

  • Population Frequency Retrieval: Fetch allele frequencies for a given variant from gnomAD.
  • Data Caching: Local caching of results for efficient subsequent queries.
  • Use Case: When a user needs to understand the frequency of a specific allele across different populations, such as "What is the gnomAD frequency of rs429358?"

Quick Start

Use the genomi-gnomad skill to retrieve the allele frequency for variant '19:44908684:T>C' in the GRCh38 genome build.

Dependency Matrix

Required Modules

None required

Components

scripts

💻 Claude Code Installation

Recommended: Let Claude install automatically. Simply copy and paste the text below to Claude Code.

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

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