Triage a patient's gene variant for clinical relevance
Wann einsetzen: A VCF annotation returned a variant you've never seen — is it actionable?
Voraussetzungen
- biomcp installed — curl -fsSL https://biomcp.org/install.sh | bash
Ablauf
-
Look up the variantLook up BRCA2 c.7934del. ClinVar significance, gnomAD frequency, and any CIViC evidence.✓ Kopiert→ Consolidated card from multiple sources
-
Pull supporting papersFind the 3 most cited PubMed articles on this variant.✓ Kopiert→ Paper list with PMIDs
-
Check for trialsAny open clinical trials recruiting for BRCA2 mutation carriers?✓ Kopiert→ Trial list from ClinicalTrials.gov
Ergebnis: A multi-source picture of a variant with evidence pointers.
Fallstricke
- 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