HGMD
Get Hands-on with Franklin + HGMD
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Our exclusive, hands-on virtual workshops will 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.
See 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
- Helps labs build a centralized, evolving knowledge base from real-world evidence
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