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A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
Published on: October 13, 2023
Disease classification via gene network integrating modules and pathways
Zhilong Mi1,2,3, Binghui Guo1,2,3, Ziqiao Yin1,2,4,3
1Beijing Advanced Innovation Center for Big Data and Brain Computing, Beihang University, Beijing 100191, People's Republic of China.
Abstract:
Disease classification based on gene information has been of significance as the foundation for achieving precision medicine. Previous works focus on classifying diseases according to the gene expression data of patient samples, and constructing disease network based on the overlap of disease genes, as many genes have been confirmed to be associated with diseases. In this work, the effects of diseases on human biological functions are assessed from the perspective of gene network modules and pathways, and the distances between diseases are defined to carry out the classification models. In total, 1728 diseases are divided into 12 and 14 categories by the intensity and scope of effects on pathways, respectively. Each category is a mix of several types of diseases identified based on congenital and acquired factors as well as diseased tissues and organs. The disease classification models on the basis of gene network are parallel with traditional pathology classification based on anatomic and clinical manifestations, and enable us to look at diseases in the viewpoint of commonalities in etiology and pathology. Our models provide a foundation for exploring combination therapy of diseases, which in turn may inform strategies for future gene-targeted therapy.
Insights
This study introduces a novel gene network-based disease classification system. It categorizes 1728 diseases by their impact on biological pathways, offering new insights for precision medicine and targeted therapies.
Area of Science:
- Genomics
- Systems Biology
- Computational Biology
Background:
- Disease classification is crucial for precision medicine.
- Existing methods often rely on gene expression data and disease gene overlaps.
- A deeper understanding of disease mechanisms at the network level is needed.
Purpose of the Study:
- To develop a novel disease classification model using gene network modules and pathways.
- To define disease distances based on their effects on biological functions.
- To explore new avenues for understanding disease etiology and pathology.
Main Methods:
- Assessed disease impact on human biological functions via gene network modules and pathways.
- Defined distances between diseases based on pathway effects.
- Developed classification models using these defined distances.
- Classified 1728 diseases into 12 and 14 categories based on pathway intensity and scope.
Main Results:
- Successfully classified 1728 diseases into distinct categories based on gene network analysis.
- Identified categories that integrate diseases with diverse origins (congenital, acquired) and affected tissues.
- Demonstrated that gene network-based classification complements traditional pathology.
Conclusions:
- Gene network analysis provides a new perspective on disease classification, focusing on common etiological and pathological factors.
- This approach supports the exploration of combination therapies.
- The findings lay the groundwork for advanced gene-targeted therapeutic strategies.
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