Variant-to-Mechanism Analysis Skill

Trace the full causal chain from a genetic variant to its disease mechanism: regulatory context, target gene(s), molecular pathways, and phenotypic consequences. Integrates 7+ databases across 3 evidence layers (regulatory, molecular, disease) to build an evidence-graded mechanistic model.

IMPORTANT: Always use English terms in tool calls. Respond in the user's language.

LOOK UP, DON'T GUESS

When uncertain about any scientific fact, SEARCH databases first (PubMed, UniProt, ChEMBL, ClinVar, etc.) rather than reasoning from memory. A database-verified answer is always more reliable than a guess.

When to Use This Skill