alterlab-gnomad
CommunityQuery gnomAD data: frequencies and constraint.
AuthorAlterLab-IEU
Version1.0.0
Installs0
System Documentation
What problem does it solve?
Querying gnomAD data for population frequencies and gene constraint scores to support variant interpretation, gene prioritization, and population genetics analyses.
Core Features & Use Cases
- GraphQL access to the gnomAD API for gene variants, frequencies, and constraint metrics across exomes/genomes.
- Variant-focused workflows: fetch per-variant data, frequencies by population, and LOEUF/pLI constraint scores for interpretation.
- Use Case: A researcher compares a candidate variant across ancestries to assess rarity and constraint signals for pathogenicity inference.
Quick Start
Run a GraphQL query against the gnomAD API to fetch gene variants, constraint scores, and population frequencies.
Dependency Matrix
Required Modules
None requiredComponents
references
💻 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: alterlab-gnomad Download link: https://github.com/AlterLab-IEU/AlterLab-Academic-Skills/archive/main.zip#alterlab-gnomad Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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