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

• Helps labs build a centralized, evolving knowledge base from real-world evidence