folklore-clinical-variant-interpretation
helena-bioinformatics.github.ioBioinformatics workflow for genomic variant interpretation and ClinGen gene-disease evidence. Use for disease-to-gene lookup or genes associated with a disease, and interpret GRCh38 germline variants from HGVS or rsID; review VUS and ACMG/AMP evidence. Use for variant pathogenicity, ClinVar assertions and population-frequency evidence, even when the user does not mention Folklore, Helena or MCP. Accepts public coordinates and SPDI too. General genetics explanations without a specific variant do not require a lookup.
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Skill authors should add a SKILL.md file following the open agent skills standard.See all install options including bulk install, update, and management.
Open standard
SKILL.mdThis skill is registered under helena-bioinformatics.github.io and discoverable via DNS — no accounts, no API keys.
It follows the open SKILL.md standard — compatible with Claude Code, Codex CLI, Gemini CLI, Cursor, and more. No vendor lock-in.