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AI identifies 18 rare disease diagnoses for children

Jun 18, 2026, 4:00 PM10
(Update: Jun 18, 2026, 4:00 PM)
American artificial intelligence research organization

AI identifies 18 rare disease diagnoses for children

  • Researchers from Boston Children's Hospital collaborated with OpenAI to analyze genomes of children with undiagnosed rare diseases.
  • The AI model identified nearly 5% new diagnoses, providing significant insights for families.
  • This study demonstrates the potential of AI to enhance medical diagnostics and improve patient outcomes.
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