Gene expression knowledge graph for patient representation and diabetes prediction.

IF 1.6 3区 工程技术 Q3 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Rita T Sousa, Heiko Paulheim
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引用次数: 0

Abstract

Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of gene expression data. While gene expression data can provide valuable insights, challenges arise from the fact that the number of patients in expression datasets is usually limited, and the data from different datasets with different gene expressions cannot be easily combined. This work proposes a novel approach to address these challenges by integrating multiple gene expression datasets and domain-specific knowledge using knowledge graphs, a unique tool for biomedical data integration, and to learn uniform patient representations for subjects contained in different incompatible datasets. Different strategies and KG embedding methods are explored to generate vector representations, serving as inputs for a classifier. Extensive experiments demonstrate the efficacy of our approach, revealing weighted F1-score improvements in diabetes prediction up to 13% when integrating multiple gene expression datasets and domain-specific knowledge about protein functions and interactions.

用于患者表征和糖尿病预测的基因表达知识图谱。
糖尿病是一个影响数百万人的全球性健康问题。机器学习方法在改善糖尿病预测方面显示出有希望的结果,特别是通过分析基因表达数据。虽然基因表达数据可以提供有价值的见解,但由于表达数据集中的患者数量通常有限,并且来自不同基因表达的不同数据集的数据不能容易地组合,因此存在挑战。这项工作提出了一种新的方法来解决这些挑战,通过使用知识图(一种独特的生物医学数据集成工具)集成多个基因表达数据集和领域特定知识,并学习不同不兼容数据集中受试者的统一患者表示。探索了不同的策略和KG嵌入方法来生成向量表示,作为分类器的输入。大量的实验证明了我们的方法的有效性,揭示了当整合多个基因表达数据集和关于蛋白质功能和相互作用的特定结构域知识时,糖尿病预测的加权f1评分提高了13%。
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来源期刊
Journal of Biomedical Semantics
Journal of Biomedical Semantics MATHEMATICAL & COMPUTATIONAL BIOLOGY-
CiteScore
4.20
自引率
5.30%
发文量
28
审稿时长
30 weeks
期刊介绍: Journal of Biomedical Semantics addresses issues of semantic enrichment and semantic processing in the biomedical domain. The scope of the journal covers two main areas: Infrastructure for biomedical semantics: focusing on semantic resources and repositories, meta-data management and resource description, knowledge representation and semantic frameworks, the Biomedical Semantic Web, and semantic interoperability. Semantic mining, annotation, and analysis: focusing on approaches and applications of semantic resources; and tools for investigation, reasoning, prediction, and discoveries in biomedicine.
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