The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients

Abstract Computational methods for identifying gene–disease associations can use both genomic and phenotypic information to prioritize genes and variants that may be associated with genetic diseases. Phenotype-based methods commonly rely on comparing phenotypes observed in a patient with databases o...

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Bibliographic Details
Main Authors: Şenay Kafkas, Marwa Abdelhakim, Azza Althagafi, Sumyyah Toonsi, Malak Alghamdi, Paul N. Schofield, Robert Hoehndorf
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Subjects:
Gene prioritization
Rare diseases
Diagnosis support
Phenotypes
Large language models
Online Access:https://doi.org/10.1038/s41598-025-99539-y
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https://doi.org/10.1038/s41598-025-99539-y

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