A News & Views piece in Nature spotlights DeepRare, a system that combines clinical records, genetic data and automated literature searches to propose ranked diagnoses for rare diseases—and shows its reasoning. The approach targets the years-long “diagnostic odyssey” facing an estimated 300 million patients by linking symptoms to evidence-backed hypotheses across thousands of uncommon conditions. While performance specifics aren’t detailed here, the work underscores how transparent reasoning could bolster clinician trust and integration into genomics workflows. Broad adoption will depend on data quality, interoperability and safeguards around sensitive health information.
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