tooluniverse-variant-to-mechanism
End-to-end variant-to-mechanism analysis: given a genetic variant (rsID or coordinates), trace its functional impact from regulatory context (GWAS, eQTL, RegulomeDB, ENCODE) through target gene identification (GTEx, OpenTargets L2G) to downstream pathway and disease biology (STRING, Reactome, GO enrichment, disease associations). Produces an evidence-graded mechanistic narrative linking genotype to phenotype. Use when asked "how does this variant cause disease?", "what is the mechanism of rs7903146?", "trace variant to pathway", or "connect this GWAS hit to biology".
Installation and usage
End-to-end variant-to-mechanism analysis: given a genetic variant (rsID or coordinates), trace its functional impact from regulatory context (GWAS, eQTL, RegulomeDB, ENCODE) through target gene identification (GTEx, OpenTargets L2G) to downstream pathway and disease biology (STRING, Reactome, GO enrichment, disease associations). Produces an evidence-graded mechanistic narrative linking genotype to phenotype. Use when asked "how does this variant cause disease?", "what is the mechanism of rs7903146?", "trace variant to pathway", or "connect this GWAS hit to biology".
Después de instalarlo, puedes usar este skill ejecutando el siguiente comando en tu terminal:
skills use tooluniverse-variant-to-mechanism