Denoising self-supervised learning for disease-gene association prediction

Understanding the interplay between diseases and genes is crucial for gaining deeper insights into disease mechanisms and optimizing therapeutic strategies. In recent years, various computational methods have been developed to uncover potential disease-gene associations. However, existing computational approaches for disease-gene association prediction still face two major limitations. First, most current studies focus on constructing complex heterogeneous graphs using multi-dimensional biological entity relationships, while overlooking critical latent interaction patterns, namely, disease neighbor interactions and gene neighbor interactions-which are more valuable for association prediction. Second, in self-supervised learning (SSL), the presence of noise in auxiliary tasks commonly affects the accurate modeling of diseases and genes. In this study, we propose a novel denoising method for disease-gene association prediction, termed DGSL. To address the first issue, we utilize bipartite graphs corresponding to diseases and genes to derive disease-disease and gene-gene similarities, and further construct disease and gene interaction graphs to capture the latent interaction patterns. To tackle the second challenge, we implement cross-view denoising through adaptive semantic alignment in the embedding space, while preserving useful neighbor interactions. Extensive experiments on benchmark datasets demonstrate the effectiveness of our method.

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Publication Details

Journal
BMC Bioinformatics
Published
2025-10-23
DOI
https://doi.org/10.1186/s12859-025-06281-3
Primary Topic
Bioinformatics and Genomic Networks
Type
article
Field-Weighted Citation Impact
0.00

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article

Denoising self-supervised learning for disease-gene association prediction

Ju Xiang, Yan Zhang
BMC Bioinformatics
Bioinformatics and Genomic Networks
article

Denoising self-supervised learning for disease-gene association prediction

Ju Xiang, Yan Zhang
article en

Abstract

Understanding the interplay between diseases and genes is crucial for gaining deeper insights into disease mechanisms and optimizing therapeutic strategies. In recent years, various computational methods have been developed to uncover potential disease-gene associations. However, existing computational approaches for disease-gene association prediction still face two major limitations. First, most current studies focus on constructing complex heterogeneous graphs using multi-dimensional biological entity relationships, while overlooking critical latent interaction patterns, namely, disease neighbor interactions and gene neighbor interactions-which are more valuable for association prediction. Second, in self-supervised learning (SSL), the presence of noise in auxiliary tasks commonly affects the accurate modeling of diseases and genes. In this study, we propose a novel denoising method for disease-gene association prediction, termed DGSL. To address the first issue, we utilize bipartite graphs corresponding to diseases and genes to derive disease-disease and gene-gene similarities, and further construct disease and gene interaction graphs to capture the latent interaction patterns. To tackle the second challenge, we implement cross-view denoising through adaptive semantic alignment in the embedding space, while preserving useful neighbor interactions. Extensive experiments on benchmark datasets demonstrate the effectiveness of our method.

BMC BioinformaticsVol. 26(1)
Central South University (CN), Changsha Medical University (CN), Hunan University (CN), Changsha University of Science and Technology (CN)
Science and Technology Innovative Research Team in Higher Educational Institutions of Hunan Province
Openalex Percentile: Top 73%
Bioinformatics and Genomic Networks
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Denoising self-supervised learning for disease-gene association prediction — Ju Xiang, Yan Zhang · BMC Bioinformatics (2025) | TGRS Research Map | TGRS