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In an NEJM AI study, experts used an OpenAI reasoning model to reanalyze 376 previously unsolved cases and surface leads for 18 diagnoses.

Even with genomic sequencing, many people with rare diseases never receive a clear genetic diagnosis. Roughly half remain undiagnosed after extensive testing and specialist review. Their medical data may contain clues but finding them can require sifting through thousands to millions of possible genetic variants, fragmented clinical records, and rapidly changing scientific literature.

As new gene-disease relationships, case reports, and classification evidence accumulate, unsolved cases can become newly interpretable.…

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