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tooluniverse-regulatory-variant-analysis

Regulatory variant interpretation -- GWAS association lookup, eQTL analysis, chromatin state annotation, regulatory element overlap, and trait ontology resolution. Connects GWAS Catalog, GTEx, ENCODE, RegulomeDB, OpenTargets, OLS ontology, and Ensembl regulatory features. Use when users ask about non-coding variants, GWAS hits, eQTLs, regulatory elements, enhancer/promoter variants, or trait-associated SNPs.

Voir le code sourcebioinformatics
mims-harvard
maintainer
mims-harvard
Mis à jour 3/29/2026
Étoiles
1240
Forks
191
quick start

Installation and usage

Regulatory variant interpretation -- GWAS association lookup, eQTL analysis, chromatin state annotation, regulatory element overlap, and trait ontology resolution. Connects GWAS Catalog, GTEx, ENCODE, RegulomeDB, OpenTargets, OLS ontology, and Ensembl regulatory features. Use when users ask about non-coding variants, GWAS hits, eQTLs, regulatory elements, enhancer/promoter variants, or trait-associated SNPs.

Installation
$ install --globalskills.sh
Utilisation

Après l'installation, vous pouvez utiliser ce skill en exécutant la commande suivante dans votre terminal :

skills use tooluniverse-regulatory-variant-analysis