{"schema_version":"onlylabs.public_signal.v1","title":"OpenAI Writing: Using AI to help physicians diagnose rare genetic diseases affecting children","description":"OpenAI writing signal with public source context, captured evidence pages, related signals, and data-business radar classification.","url":"https://onlylabs.fyi/signals/60672587-2ee7-46e8-8c28-34223511fcbb","json_url":"https://onlylabs.fyi/signals/60672587-2ee7-46e8-8c28-34223511fcbb/signal.json","generated_at":"2026-06-27T00:41:43.432Z","evidence_latest_fetched_at":"2026-06-18T16:03:58.508+00:00","signal_first_seen_at":"2026-06-18T16:00:28.954644+00:00","org":{"slug":"openai","name":"OpenAI","category":"frontier-lab","category_label":"Frontier lab","dossier_url":"https://onlylabs.fyi/labs/openai","dossier_json_url":"https://onlylabs.fyi/labs/openai/dossier.json"},"related_urls":{"signal":"https://onlylabs.fyi/signals/60672587-2ee7-46e8-8c28-34223511fcbb","signal_json":"https://onlylabs.fyi/signals/60672587-2ee7-46e8-8c28-34223511fcbb/signal.json","source":"https://openai.com/index/diagnose-rare-childhood-diseases","lab_dossier":"https://onlylabs.fyi/labs/openai","lab_dossier_json":"https://onlylabs.fyi/labs/openai/dossier.json","analysis":"https://onlylabs.fyi/analysis/openai","analysis_json":"https://onlylabs.fyi/analysis/openai/analysis.json","analysis_evidence_json":"https://onlylabs.fyi/analysis/openai/evidence.json","category":"https://onlylabs.fyi/frontier","category_json":"https://onlylabs.fyi/frontier.json","category_feed":"https://onlylabs.fyi/frontier/feed.xml","category_signals_json":"https://onlylabs.fyi/signals.json","topic":"https://onlylabs.fyi/topics/talking","topic_signals_json":"https://onlylabs.fyi/topics/talking/signals.json","topic_feed":"https://onlylabs.fyi/topics/talking/feed.xml","data_business":null},"answer_pack":{"answer":"OpenAI published Using AI to help physicians diagnose rare genetic diseases affecting children. 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This talking signal gives public context for research themes, product direction, policy, or launch framing. 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Read the study abstract at NEJM AI Loading… Share 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. Researchers from Boston Children’s Hospital’s Manton Center for Orphan Disease Research, Harvard University, and OpenAI used the OpenAI o3 Deep Research reasoning model to analyze de-identified clinical and genomic information from 376 previously analyzed cases that remained unsolved. 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