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Gene Hunting with o1-pro: Reasoning about Rare Diseases with ChatGPT Pro Grantee Dr. Catherine Brownstein

"The Cognitive Revolution" | AI Builders, Researchers, and Live Player Analysis

CHAPTER

Navigating Genetic Complexities

This chapter explores the detailed process of analyzing complex genetic cases and the identification of pathogenic variants through genomic testing. It highlights the importance of evolving technologies and reanalysis, illuminated by a compelling case of a family affected by myopathy, emphasizing the emotional journey and insights gained from genetic testing. The discussion also addresses the interplay between structured genetic data and unstructured patient symptoms, underlining the critical role of ontologies in understanding rare diseases.

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