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gnomad-database

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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.

skills/12-科学数据库/gnomad-database/SKILL.md

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# 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

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