Article

Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation

2024-12-02

Abstract excerpt

<h4>Background</h4> Diagnosing rare genetic disorders relies on precise phenotypic and genotypic analysis, with the Human Phenotype Ontology (HPO) providing a standardized language for capturing clinical phenotypes. Traditional HPO tools, such as Doc2HPO and ClinPhen, employ concept recognition to automate phenotype extraction but struggle with incomplete phenotype assignment, often requiring intensive manual rev...

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Literature Corpus work: 9a9a51f8-19d0-52f4-b906-87a9a3eb7753
DOI: 10.1101/2024.12.01.24318253

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