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.
This page mirrors an upstream repository entry. It does not mean the skill is already part of the SCI Skills curated catalog.
- Raw path
- scientific-skills/gnomad-database
- Allowed tools
- -
- Repository version
- 2.31.0
- Synced at
- March 27, 2026
About this skill
About this skill
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
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