Data & ReproScientific DatabasesK-Dense-AI/claude-scientific-skillsData & Reproduction

gnomad-database

Maintainer Kuan-lin Huang · Last updated April 1, 2026

The Genome Aggregation Database (gnomAD) is the largest publicly available collection of human genetic variation, aggregated from large-scale sequencing projects. gnomAD v4 contains exome sequences from 730,947 individuals and genome sequences from 76,215 individuals across diverse ancestries. It provides population allele frequencies, variant consequence annotations, and gene-level constraint metrics that are essent.

Claude CodeOpenClawNanoClawDiscoveryDataset Buildinggnomad-databasegeneraldatabasegeneral

Original source

K-Dense-AI/claude-scientific-skills

https://github.com/K-Dense-AI/claude-scientific-skills/tree/main/scientific-skills/gnomad-database

Maintainer: Kuan-lin Huang
License: CC0-1.0
Last updated: April 1, 2026

Skill Snapshot

Key Details From SKILL.md

2 min

Use cases

Use gnomad-database in research workflows aligned with this subject area.
Follow the upstream documentation for the full working procedure.
**Variant frequency lookup**: Checking if a variant is rare, common, or absent in the general population.
**Pathogenicity assessment**: Rare variants (MAF < 1%) are candidates for disease causation; gnomAD helps filter benign common variants.

Not for

Do not assume this entry replaces the original database documentation or API notes.
Do not rely on this catalog entry alone for installation or maintenance details.