Thomas A. Cassini

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Natural Language Processing (1)Scientific Discovery & Drug Design (1)

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Cathy Shyr (1)Yan Hu (1)Rory J. Tinker (1)Kevin W. Byram (1)

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Feb 23, 2026

Cathy Shyr +103w ago

An artificial intelligence framework for end-to-end rare disease phenotyping from clinical notes using large language models

By modeling the entire clinical phenotyping workflow, RARE-PHENIX extracts structured, ranked phenotypes that align more closely with clinician curation, potentially revolutionizing rare disease diagnosis.

Cathy Shyr, Yan Hu, Rory J. Tinker +8

Natural Language Processing Scientific Discovery & Drug Design

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Thomas A. Cassini

Publication activitypapers/week, last 8 weeks

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