Yang Xiaoxi, Xu Wenjian, Leng Dongjin, Wen Yuqi, Wu Lianlian, Li Ruijiang, Huang Jian, Bo Xiaochen, He Song
Clinical Medicine Institute, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Department of Bioinformatics, Institute of Health Service and Transfusion Medicine, Beijing 100850, China.
Comput Struct Biotechnol J. 2023 Feb 24;21:1807-1819. doi: 10.1016/j.csbj.2023.02.038. eCollection 2023.
Established taxonomy system based on disease symptom and tissue characteristics have provided an important basis for physicians to correctly identify diseases and treat them successfully. However, these classifications tend to be based on phenotypic observations, lacking a molecular biological foundation. Therefore, there is an urgent to integrate multi-dimensional molecular biological information or multi-omics data to redefine disease classification in order to provide a powerful perspective for understanding the molecular structure of diseases. Therefore, we offer a flexible disease classification that integrates the biological process, gene expression, and symptom phenotype of diseases, and propose a disease-disease association network based on multi-view fusion. We applied the fusion approach to 223 diseases and divided them into 24 disease clusters. The contribution of internal and external edges of disease clusters were analyzed. The results of the fusion model were compared with Medical Subject Headings, a traditional and commonly used disease taxonomy. Then, experimental results of model performance comparison show that our approach performs better than other integration methods. As it was observed, the obtained clusters provided more interesting and novel disease-disease associations. This multi-view human disease association network describes relationships between diseases based on multiple molecular levels, thus breaking through the limitation of the disease classification system based on tissues and organs. This approach which motivates clinicians and researchers to reposition the understanding of diseases and explore diagnosis and therapy strategies, extends the existing disease taxonomy.
The preprocessed dataset and source code supporting the conclusions of this article are available at GitHub repository https://github.com/yangxiaoxi89/mvHDN.
基于疾病症状和组织特征建立的分类系统为医生正确识别疾病并成功治疗提供了重要依据。然而,这些分类往往基于表型观察,缺乏分子生物学基础。因此,迫切需要整合多维度分子生物学信息或多组学数据来重新定义疾病分类,以便为理解疾病的分子结构提供有力视角。因此,我们提供了一种灵活的疾病分类方法,该方法整合了疾病的生物学过程、基因表达和症状表型,并提出了一种基于多视图融合的疾病-疾病关联网络。我们将融合方法应用于223种疾病,并将它们分为24个疾病簇。分析了疾病簇内部和外部边缘的贡献。将融合模型的结果与传统且常用的疾病分类法《医学主题词表》进行了比较。然后,模型性能比较的实验结果表明,我们的方法比其他整合方法表现更好。正如所观察到的,获得的簇提供了更有趣和新颖的疾病-疾病关联。这种多视图人类疾病关联网络基于多个分子水平描述疾病之间的关系,从而突破了基于组织和器官的疾病分类系统的局限性。这种方法促使临床医生和研究人员重新定位对疾病的理解并探索诊断和治疗策略,扩展了现有的疾病分类法。
支持本文结论的预处理数据集和源代码可在GitHub仓库https://github.com/yangxiaoxi89/mvHDN上获取。