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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".

mims-harvard
maintainer
mims-harvard
اپ ڈیٹ ہوا 3/29/2026
اسٹارز
1240
فورکس
191
quick start

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".

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-variant-to-mechanism