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Human Phenotype Ontology (HPO) Mapper: Semantic Mapping of Clinical Findings to the Human Phenotype Ontology Using AI-Powered Embeddings and LLM-Based Quality Control

2025-12-22

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Structured phenotypic annotations linked to genetic data can drive diagnostic insight and therapeutic discovery in complex diseases. However, poor research access to the rich clinical data trapped in unstructured clinical records remains a significant barrier to phenotype-genotype integration. Here, we present Human Phenotype Ontology (HPO) Mapper, a scalable AI-assisted too...

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Literature Corpus work: 77b86bc6-0142-5b36-93df-44520e4a4ff5
DOI: 10.64898/2025.12.20.25342726

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