Article

Phen2Disease: A Phenotype-driven Semantic Similarity-based Integrated Model for Disease and Gene Prioritization

2022-12-03

Abstract excerpt

<h4>ABSTRACT</h4> By utilizing the Human Phenotype Ontology (HPO), recent approaches to prioritizing disease-causing genes for patients become popular. However, these approaches do not comprehensively use information about phenotypes of diseases and patients. We present a new method called Phen2Disease that calculates similarity scores between two phenotype sets of patients and diseases by which to prioritize dis...

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Literature Corpus work: b76524fa-1d5f-5d74-89d1-b6f97375e2dd
DOI: 10.1101/2022.12.02.518845

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