Uploaded April 2026 | Updated September 2026, 1 week ago
Talk by Lishuang Shen
socallinuxexpo.org/scale/23x/presentations/millions-one-words-terms-generative-ai-tools-action-rare-disease-diagnosis
Precision medicine is constrained by two major data interpretation bottlenecks: the “Millions-to-one” challenge of filtering millions of genomic variants from next-generation sequencing to identify a single causative variant for molecular diagnosis reporting, and the “Words-to-terms” challenge of transforming unstructured clinical jargon into standardized, interoperable ontology terms. We present two novel Generative AI (GenAI) frameworks addressing these challenges. Both systems integrate contextual information with knowledge from curated medical databases and real-time web data. Evaluation using both open-source Kimi 2 and closed-source Gemini-2.5-pro yielded similarly accurate results.
Talk by Lishuang Shen
socallinuxexpo.org/scale/23x/presentations/millions-one-words-terms-generative-ai-tools-action-rare-disease-diagnosis
Precision medicine is constrained by two major data interpretation bottlenecks: the “Millions-to-one” challenge of filtering millions of genomic variants from next-generation sequencing to identify a single causative variant for molecular diagnosis reporting, and the “Words-to-terms” challenge of transforming unstructured clinical jargon into standardized, interoperable ontology terms. We present two novel Generative AI (GenAI) frameworks addressing these challenges. Both systems integrate contextual information with knowledge from curated medical databases and real-time web data. Evaluation using both open-source Kimi 2 and closed-source Gemini-2.5-pro yielded similarly accurate results.
