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This is a Quantitative Study study.

geneEX: An Integrated Phenotype‐Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders

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Phenotype-driven algorithm geneEX ranks pathogenic variants in monogenic disorders, suggesting enhanced diagnostic accuracy.

geneEX significantly improves the precision of identifying pathogenic variants in rare genetic disorders, providing crucial support for diagnosis.
The algorithm integrates phenotype information, ranking candidate variants more effectively across multiple datasets for better diagnosis.
By utilizing Human Phenotype Ontology data, geneEX enhances the matching process between clinical descriptions and disease phenotypes.
Automated identification of pathogenic variants is achieved through innovative methods, facilitating the diagnostic process in monogenic diseases.

Zhang et al. (2025) studied this question.

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