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Article

Generative Models and Sentence Transformers for the Recognition and Normalization of Continuous and Discontinuous Phenotype Mentions: Model Development and Evaluation.

JMIR medical informatics - 5 Nov 2025

Alhassan Areej, Schlegel Viktor, Aloud Monira, Batista-Navarro Riza, Nenadic Goran

Abstract excerpt

BACKGROUND: Extracting genetic phenotype mentions from clinical reports and normalizing them to standardized concepts within the human phenotype ontology are essential for consistent interpretation and representation of genetic conditions. This is particularly important in fields such as dysmorphology and plays a key role in advancing personalized health care. However, modern clinical named entity recognition...

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Topics

Humans
Phenotype
Natural Language Processing
Data Mining

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41191926
DOI: 10.2196/68558
PMCID: PMC12631088

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