HGMD
Get Hands-on with Franklin + HGMD – May 27 (Portuguese)
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Welcome to one of our exclusive, hands-on virtual workshops to explore Franklin + HGMD Professional — a powerful variant interpretation and reporting solution combining AI-driven workflows with expertly curated evidence.
During this session, you’ll analyze a real-world case involving a 3-month-old patient with complex neuromuscular phenotypes. Using Franklin + HGMD, you’ll prioritize variants, explore curated evidence (including disease-causing mutations from HGMD), and see how seamlessly the platform integrates clinical data, expert recommendations, and insights from 100+ databases.
You’ll also discover how Franklin + HGMD:
- Uses advanced AI to prioritize and classify variants efficiently
- Automates ACMG classification with integrated HGMD and ClinGen guidance
- Enables customizable, AI-assisted reporting for actionable clinical insights
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