gnomad-database
Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF), and loss-of-function intolerance. Essential for variant pathogenicity interpretation, rare disease genetics, and identifying loss-of-function intolerant genes.
npx skills add LeonChaoX/qinyan-academic-skills --skill gnomad-database --agent claude-code
Same command for any agent — swap --agent for codex, cursor, copilot.
Weekly change comes from our own snapshots, not the repository page — it measures attention, not adoption.
# gnomAD Database ## Overview 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 essential for interpreting the clinical significance of genetic variants. **Key resources:** - gnomAD browser: https://gnomad.broadinstitute.org/ - GraphQL API: https://gnomad.broadinstitute.org/api - Data downloads: https://gnomad.broadinstitute.org/downloads - Documentation: https://gnomad.broadinstitute.org/help ## When to Use This Skill Use gnomAD when: - **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 - **Loss-of-function intolerance**: Using pLI and LOEUF scores to assess whether a gene tolerates protein-truncating variants - **Population-stratified
- Overview
- When to Use This Skill
- Core Capabilities
- 1. gnomAD GraphQL API
- 2. Querying Variants by Gene
- 3. Querying a Specific Variant
- 4. Gene Constraint Scores
- 5. Population Frequency Analysis
- 6. Structural Variants (gnomAD-SV)
- Query Workflows
- Workflow 1: Variant Pathogenicity Assessment
- Workflow 2: Gene Prioritization in Rare Disease
- Workflow 3: Population Genetics Research
- Best Practices
What does the gnomad-database skill do?
Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF), and loss-of-function intolerance. Essential for variant pathogenicity interpretation, rare disease genetics, and identifying loss-of-function intolerant genes.
How do I install it?
Run `npx skills add LeonChaoX/qinyan-academic-skills --skill gnomad-database --agent claude-code` — it drops the skill into your project so the agent can pick it up. Swap the --agent value for codex, cursor or copilot if you use one of those.
Where does this skill come from?
From LeonChaoX/qinyan-academic-skills, a repository with 759 stars. We read it straight from the repository tree rather than a submitted listing, so what you see here is what is actually published.
Is a popular skill a good skill?
Not necessarily. Stars measure attention, not adoption — a repository can trend for a week and be abandoned. That is why we show the weekly change from our own snapshots next to the total, instead of a single flattering number.