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.
Details
- Path
- claude-scientific-skills/skills/gnomad-database/SKILL.md
- License
- CC0-1.0
- Dependencies
- 1