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IMA: Identifying disease-related genes using MeSH terms and association rules
Jeongwoo Kim1, Changbae Bang1, Hyeonseo Hwang1
1Department of Computer Science, Yonsei University, 50 Yonsei-ro, Sinchon-dong, Seodamun-gu, Seoul 120-749, South Korea.
Journal of Biomedical Informatics
|November 21, 2017
Summary
This study introduces a novel method to identify disease-related genes using Medical Subject Headings (MeSH) terms and association rules. The approach effectively identifies candidate genes for various cancers, offering improved insights into disease pathogenesis.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- Genes are crucial in disease development and pathogenesis.
- Identifying gene-disease relationships is vital for biological and medical research.
- Mutated or dysregulated genes significantly contribute to disease mechanisms.
Purpose of the Study:
- To develop and validate a novel method for identifying disease-related genes.
- To leverage Medical Subject Headings (MeSH) terms and association rules for gene discovery.
- To construct gene-gene interaction networks for enhanced disease gene identification.
Main Methods:
- Analysis of MeSH terms to identify potential disease-related genes.
- Extraction of gene-gene interactions using association rule mining.
- Integration of extracted interactions to build gene-gene networks.
- Application of the method to five major cancers: prostate, lung, breast, stomach, and colorectal.
Main Results:
- The proposed method successfully identified 20 candidate genes for each of the five studied cancers.
- The method demonstrated superior performance in identifying disease-related and candidate genes compared to existing approaches.
- A total of 34 important candidate genes with supporting evidence for disease association were presented.
Conclusions:
- The developed method provides a powerful tool for identifying disease-related genes.
- This approach enhances the understanding of gene involvement in cancer pathogenesis.
- The identified candidate genes warrant further investigation for potential diagnostic or therapeutic applications.

