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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 health informatics Title + abstract only
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O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=111 SRC="FIGDIR/small/25342726v1_ufig1.gif" ALT="Figure 1"> View larger version (36K): org.highwire.dtl.DTLVardef@8edb94org.highwire.dtl.DTLVardef@f20105org.highwire.dtl.DTLVardef@21033corg.highwire.dtl.DTLVardef@15b865e_HPS_FORMAT_FIGEXP M_FIG O_FLOATNOVISUAL ABSTRACT:C_FLOATNO C_FIG Structured phenotypic annotations linked to genetic data can drive diagnostic insight and therapeutic discovery in complex diseases. However, poor research access to the rich ...

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