bio-clinical-databases-gnomad-frequencies
OfficialFetch gnomAD frequencies to assess variant rarity.
Data & Analytics#genomics#usage-guide#gnomad#myvariant#allele-frequency#variant-frequency#population-frequencies
Authorstellaromics
Version1.0.0
Installs0
System Documentation
What problem does it solve?
Determine how common a genetic variant is in large population datasets to guide rare-disease prioritization and interpretation.
Core Features & Use Cases
- Population-frequency lookup: fetches exome and genome frequencies from gnomAD for a given variant.
- Flexible data sources: supports gnomAD REST API and myvariant.info for convenient access.
- Practical use case: prioritize rare variants in a clinical exome by comparing global and ancestry-specific frequencies to ACMG PM2 considerations.
Quick Start
Query gnomAD for a variant and interpret the exome/genome frequencies to assess rarity and suitability for downstream analyses.
Dependency Matrix
Required Modules
None requiredComponents
Standard package💻 Claude Code Installation
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Please help me install this Skill: Name: bio-clinical-databases-gnomad-frequencies Download link: https://github.com/stellaromics/fast-bioinfo/archive/main.zip#bio-clinical-databases-gnomad-frequencies Please download this .zip file, extract it, and install it in the .claude/skills/ directory.
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