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Using AI to help physicians diagnose rare genetic diseases affecting children

Reddit r/singularity · 6d ago Cached

Researchers from Boston Children's Hospital, Harvard, and OpenAI used the OpenAI o3 Deep Research reasoning model to reanalyze 376 unsolved rare disease cases, leading to diagnoses in 18 additional cases (4.8% yield) after expert review and clinical confirmation. The study, published in NEJM AI, demonstrates how AI-assisted workflows can help experts revisit difficult cases as scientific knowledge evolves.

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