Article

Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning Models

2026-06-05

Abstract excerpt

<h4>Background</h4> Molecular medicine has made genetic diagnostics crucial for rare diseases, but the majority of patients remains without diagnosis even after state-of-the-art assessment. Standardized systems for integrating clinical features, such as the Human Phenotype Ontology (HPO), offer assistance, but are often insufficiently detailed and fail to capture crucial clinical parameters such as age at onset,...

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Literature Corpus work: f65e3be9-8d64-5056-b3cb-9a22b2d63a8c
DOI: 10.64898/2026.06.04.26354845

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