Heinson A

No ORCID on file · 1 paper in corpus

2025

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

·doi:10.64898/2025.12.20.25342726

ABSTRACT Background 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 clini…