Article
Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities.
Briefings in bioinformatics - 20 Jul 2023
Zhai Weiqi, Huang Xiaodi, Shen Nan, Zhu Shanfeng
Abstract excerpt
Human Phenotype Ontology (HPO)-based approaches have gained popularity in recent times as a tool for genomic diagnostics of rare diseases. However, these approaches do not make full use of the available information on disease and patient phenotypes. We present a new method called Phen2Disease, which utilizes the bidirectional maximum matching semantic similarity between two phenotype sets of patients and diseases...
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