Triage a patient's gene variant for clinical relevance
Quand l'utiliser : A VCF annotation returned a variant you've never seen — is it actionable?
Prérequis
- biomcp installed — curl -fsSL https://biomcp.org/install.sh | bash
Déroulement
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Look up the variantLook up BRCA2 c.7934del. ClinVar significance, gnomAD frequency, and any CIViC evidence.✓ Copié→ Consolidated card from multiple sources
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Pull supporting papersFind the 3 most cited PubMed articles on this variant.✓ Copié→ Paper list with PMIDs
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Check for trialsAny open clinical trials recruiting for BRCA2 mutation carriers?✓ Copié→ Trial list from ClinicalTrials.gov
Résultat : A multi-source picture of a variant with evidence pointers.
Pièges
- Not a substitute for clinical review — Always have a qualified clinician review — this is research aid, not diagnosis
- Some sources disagree on variant classification — Surface disagreements explicitly; don't average them