Non-coding/regulatory variant interpretation — GWAS association lookup, eQTL evidence (GTEx), chromatin state (ENCODE), regulatory variant scoring (RegulomeDB, CADD), and TF-binding disruption. Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning. Distinct from coding-variant tools.
The canonical home for this skill is tooluniverse-regulatory-variant-analysis in mims-harvard/ToolUniverse
Loading evals
089eb8e
If you maintain this skill, you can claim it as your own. Once claimed, you can manage eval scenarios, bundle related skills, attach documentation or rules, and ensure cross-agent compatibility.