Gene expression knowledge graph for patient representation and diabetes prediction

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.

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Publication Details

Journal
Journal of Biomedical Semantics
Published
2025-03-08
DOI
https://doi.org/10.1186/s13326-025-00325-6
Citations
1
Primary Topic
Advanced Graph Neural Networks
Type
article
Field-Weighted Citation Impact
2.48

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article

Gene expression knowledge graph for patient representation and diabetes prediction

Heiko Paulheim, Rita T. Sousa
1 citations
Journal of Biomedical Semantics
Advanced Graph Neural Networks
2.48
article

Gene expression knowledge graph for patient representation and diabetes prediction

Heiko Paulheim, Rita T. Sousa
article en
1 citations

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.

Journal of Biomedical SemanticsVol. 16(1)
University of Mannheim (DE)
Bundesministerium für Bildung und Forschung, Universität Mannheim
Openalex Percentile: Top 11%
Advanced Graph Neural Networks
2.48
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