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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.

Ver código-fontebioinformatics
mims-harvard
maintainer
mims-harvard
Atualizado 3/29/2026
Estrelas
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.

Instalação
$ install --globalskills.sh
Uso

Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:

skills use tooluniverse-regulatory-variant-analysis