AUTHOR=Liu Xinhua , Gao Ling , Peng Yonglin , Fang Zhonghai , Wang Ju TITLE=PheSom: a term frequency-based method for measuring human phenotype similarity on the basis of MeSH vocabulary JOURNAL=Frontiers in Genetics VOLUME=14 YEAR=2023 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1185790 DOI=10.3389/fgene.2023.1185790 ISSN=1664-8021 ABSTRACT=

Background: Phenotype similarity calculation should be used to help improve drug repurposing. In this study, based on the MeSH terms describing the phenotypes deposited in OMIM, we proposed a method, namely, PheSom (Phenotype Similarity On MeSH), to measure the similarity between phenotypes. PheSom counted the number of overlapping MeSH terms between two phenotypes and then took the weight of every MeSH term within each phenotype into account according to the term frequency-inverse document frequency (FIDC). Phenotype-related genes were used for the evaluation of our method.

Results: A 7,739 × 7,739 similarity score matrix was finally obtained and the number of phenotype pairs was dramatically decreased with the increase of similarity score. Besides, the overlapping rates of phenotype-related genes were remarkably increased with the increase of similarity score between phenotypes, which supports the reliability of our method.

Conclusion: We anticipate our method can be applied to identifying novel therapeutic methods for complex diseases.