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gnomad-database

SkillCC0-1.0by lingxling

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.

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

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