home/categories/bioinformatics/mims-harvard-tooluniverse-skills-tooluniverse-regulatory-variant-analysis-skill-md
bioinformaticsresearch

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.

mims-harvard
maintainer
mims-harvard
اپ ڈیٹ ہوا 3/29/2026
اسٹارز
1240
فورکس
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.

انسٹالیشن
$ install --globalskills.sh
استعمال

انسٹال کرنے کے بعد، آپ یہ اسکل ٹرمینل میں درج ذیل کمانڈ چلا کر استعمال کر سکتے ہیں:

skills use tooluniverse-regulatory-variant-analysis