tooluniverse-regulatory-variant-analysis
Non-coding/regulatory variant interpretation — GWAS association lookup, eQTL evidence (GTEx), chromatin state (ENCODE), regulatory variant scoring (RegulomeDB, CADD), TF-binding disruption, and sequence-based deep-learning prediction (AlphaGenome/AlphaGenome Atlas) for when annotation databases are silent. Use for non-coding GWAS hit interpretation, eQTL-based gene assignment, and regulatory mechanism reasoning. Distinct from coding-variant tools.
85%
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The canonical home for this skill is tooluniverse-regulatory-variant-analysis in mims-harvard/ToolUniverse
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