{"title":"冠状动脉斑块症状表型的生物医学知识图谱:基于机器学习的真实世界临床数据分析。","authors":"Jia-Ming Huan, Xiao-Jie Wang, Yuan Li, Shi-Jun Zhang, Yuan-Long Hu, Yun-Lun Li","doi":"10.1186/s13040-024-00365-1","DOIUrl":null,"url":null,"abstract":"<p><p>A knowledge graph can effectively showcase the essential characteristics of data and is increasingly emerging as a significant means of integrating information in the field of artificial intelligence. Coronary artery plaque represents a significant etiology of cardiovascular events, posing a diagnostic challenge for clinicians who are confronted with a multitude of nonspecific symptoms. To visualize the hierarchical relationship network graph of the molecular mechanisms underlying plaque properties and symptom phenotypes, patient symptomatology was extracted from electronic health record data from real-world clinical settings. Phenotypic networks were constructed utilizing clinical data and protein‒protein interaction networks. Machine learning techniques, including convolutional neural networks, Dijkstra's algorithm, and gene ontology semantic similarity, were employed to quantify clinical and biological features within the network. The resulting features were then utilized to train a K-nearest neighbor model, yielding 23 symptoms, 41 association rules, and 61 hub genes across the three types of plaques studied, achieving an area under the curve of 92.5%. Weighted correlation network analysis and pathway enrichment were subsequently utilized to identify lipid status-related genes and inflammation-associated pathways that could help explain the differences in plaque properties. To confirm the validity of the network graph model, we conducted coexpression analysis of the hub genes to evaluate their potential diagnostic value. Additionally, we investigated immune cell infiltration, examined the correlations between hub genes and immune cells, and validated the reliability of the identified biological pathways. By integrating clinical data and molecular network information, this biomedical knowledge graph model effectively elucidated the potential molecular mechanisms that collude symptoms, diseases, and molecules.</p>","PeriodicalId":48947,"journal":{"name":"Biodata Mining","volume":"17 1","pages":"13"},"PeriodicalIF":4.0000,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11110203/pdf/","citationCount":"0","resultStr":"{\"title\":\"The biomedical knowledge graph of symptom phenotype in coronary artery plaque: machine learning-based analysis of real-world clinical data.\",\"authors\":\"Jia-Ming Huan, Xiao-Jie Wang, Yuan Li, Shi-Jun Zhang, Yuan-Long Hu, Yun-Lun Li\",\"doi\":\"10.1186/s13040-024-00365-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A knowledge graph can effectively showcase the essential characteristics of data and is increasingly emerging as a significant means of integrating information in the field of artificial intelligence. Coronary artery plaque represents a significant etiology of cardiovascular events, posing a diagnostic challenge for clinicians who are confronted with a multitude of nonspecific symptoms. To visualize the hierarchical relationship network graph of the molecular mechanisms underlying plaque properties and symptom phenotypes, patient symptomatology was extracted from electronic health record data from real-world clinical settings. Phenotypic networks were constructed utilizing clinical data and protein‒protein interaction networks. Machine learning techniques, including convolutional neural networks, Dijkstra's algorithm, and gene ontology semantic similarity, were employed to quantify clinical and biological features within the network. The resulting features were then utilized to train a K-nearest neighbor model, yielding 23 symptoms, 41 association rules, and 61 hub genes across the three types of plaques studied, achieving an area under the curve of 92.5%. Weighted correlation network analysis and pathway enrichment were subsequently utilized to identify lipid status-related genes and inflammation-associated pathways that could help explain the differences in plaque properties. To confirm the validity of the network graph model, we conducted coexpression analysis of the hub genes to evaluate their potential diagnostic value. Additionally, we investigated immune cell infiltration, examined the correlations between hub genes and immune cells, and validated the reliability of the identified biological pathways. 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引用次数: 0
摘要
知识图谱可以有效地展示数据的基本特征,并日益成为人工智能领域整合信息的重要手段。冠状动脉斑块是心血管事件的一个重要病因,给临床医生带来了诊断上的挑战,因为他们要面对众多非特异性症状。为了可视化斑块特性和症状表型的分子机制的层次关系网络图,我们从真实世界临床环境的电子健康记录数据中提取了患者症状。利用临床数据和蛋白质-蛋白质相互作用网络构建了表型网络。采用卷积神经网络、Dijkstra 算法和基因本体语义相似性等机器学习技术来量化网络中的临床和生物特征。然后利用由此产生的特征来训练 K 最近邻模型,在研究的三种斑块中得出了 23 种症状、41 条关联规则和 61 个中心基因,曲线下面积达到 92.5%。随后,研究人员利用加权相关网络分析和通路富集来确定与脂质状态相关的基因和与炎症相关的通路,这些基因和通路有助于解释斑块特性的差异。为了证实网络图模型的有效性,我们对中心基因进行了共表达分析,以评估其潜在的诊断价值。此外,我们还调查了免疫细胞浸润情况,研究了枢纽基因与免疫细胞之间的相关性,并验证了所识别生物通路的可靠性。通过整合临床数据和分子网络信息,该生物医学知识图谱模型有效地阐明了症状、疾病和分子之间的潜在分子机制。
The biomedical knowledge graph of symptom phenotype in coronary artery plaque: machine learning-based analysis of real-world clinical data.
A knowledge graph can effectively showcase the essential characteristics of data and is increasingly emerging as a significant means of integrating information in the field of artificial intelligence. Coronary artery plaque represents a significant etiology of cardiovascular events, posing a diagnostic challenge for clinicians who are confronted with a multitude of nonspecific symptoms. To visualize the hierarchical relationship network graph of the molecular mechanisms underlying plaque properties and symptom phenotypes, patient symptomatology was extracted from electronic health record data from real-world clinical settings. Phenotypic networks were constructed utilizing clinical data and protein‒protein interaction networks. Machine learning techniques, including convolutional neural networks, Dijkstra's algorithm, and gene ontology semantic similarity, were employed to quantify clinical and biological features within the network. The resulting features were then utilized to train a K-nearest neighbor model, yielding 23 symptoms, 41 association rules, and 61 hub genes across the three types of plaques studied, achieving an area under the curve of 92.5%. Weighted correlation network analysis and pathway enrichment were subsequently utilized to identify lipid status-related genes and inflammation-associated pathways that could help explain the differences in plaque properties. To confirm the validity of the network graph model, we conducted coexpression analysis of the hub genes to evaluate their potential diagnostic value. Additionally, we investigated immune cell infiltration, examined the correlations between hub genes and immune cells, and validated the reliability of the identified biological pathways. By integrating clinical data and molecular network information, this biomedical knowledge graph model effectively elucidated the potential molecular mechanisms that collude symptoms, diseases, and molecules.
期刊介绍:
BioData Mining is an open access, open peer-reviewed journal encompassing research on all aspects of data mining applied to high-dimensional biological and biomedical data, focusing on computational aspects of knowledge discovery from large-scale genetic, transcriptomic, genomic, proteomic, and metabolomic data.
Topical areas include, but are not limited to:
-Development, evaluation, and application of novel data mining and machine learning algorithms.
-Adaptation, evaluation, and application of traditional data mining and machine learning algorithms.
-Open-source software for the application of data mining and machine learning algorithms.
-Design, development and integration of databases, software and web services for the storage, management, retrieval, and analysis of data from large scale studies.
-Pre-processing, post-processing, modeling, and interpretation of data mining and machine learning results for biological interpretation and knowledge discovery.