OpenAI Forum·
Boston Children's on AI that cracked 18 rare-disease cold cases
Katherine Brownstein, Alan Beggs & Suya Shringarpure· Manton Center rare-disease researchers & OpenAI genomics researcher
A Boston Children's and OpenAI workflow ran o3 deep research over 376 hard rare-disease cases, surfaced evidence that led to 18 new diagnoses, and even proposed a novel gene hypothesis, with human geneticists validating every lead.
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