E-ABIN: an explainable module for anomaly detection in biological networks

The increasing availability of large-scale omics data calls for robust analytical frameworks capable of handling complex gene expression datasets while offering interpretable results. Recent advances in artificial intelligence have enabled the identification of aberrant molecular patterns distinguishing disease states from healthy controls. Coupled with improvements in model interpretability, these tools now support the identification of genes potentially driving disease phenotypes. However, current approaches to gene anomaly detection often remain limited to single datasets and lack accessible graphical interfaces. We introduce E-ABIN, a general-purpose, explainable framework for anomaly detection in biological networks. E-ABIN combines classical machine learning and graph-based deep learning techniques within a unified, user-friendly platform, enabling the detection and interpretation of anomalies from gene expression or methylation-derived networks. By integrating algorithms such as support vector machines, random forests, graph autoencoders, and graph adversarial attributed networks, E-ABIN ensures high predictive accuracy while maintaining interpretability. We demonstrate the utility of E-ABIN through case studies of bladder cancer and celiac disease, where it effectively uncovers biologically relevant anomalies and offers insights into disease mechanisms. E-ABIN is freely available on the Zenodo platform at https://doi.org/10.5281/zenodo.17062501.

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Publication Details

Journal
NAR Genomics and Bioinformatics
Published
2025-09-18
DOI
https://doi.org/10.1093/nargab/lqaf135
Primary Topic
Anomaly Detection Techniques and Applications
Type
article
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article

E-ABIN: an explainable module for anomaly detection in biological networks

Pierangelo Veltri, Pietro Hiram Guzzi, Ugo Lomoio, Tommaso Mazza
NAR Genomics and Bioinformatics
Anomaly Detection Techniques and Applications
article

E-ABIN: an explainable module for anomaly detection in biological networks

Pierangelo Veltri, Pietro Hiram Guzzi, Ugo Lomoio, Tommaso Mazza
article en

Abstract

The increasing availability of large-scale omics data calls for robust analytical frameworks capable of handling complex gene expression datasets while offering interpretable results. Recent advances in artificial intelligence have enabled the identification of aberrant molecular patterns distinguishing disease states from healthy controls. Coupled with improvements in model interpretability, these tools now support the identification of genes potentially driving disease phenotypes. However, current approaches to gene anomaly detection often remain limited to single datasets and lack accessible graphical interfaces. We introduce E-ABIN, a general-purpose, explainable framework for anomaly detection in biological networks. E-ABIN combines classical machine learning and graph-based deep learning techniques within a unified, user-friendly platform, enabling the detection and interpretation of anomalies from gene expression or methylation-derived networks. By integrating algorithms such as support vector machines, random forests, graph autoencoders, and graph adversarial attributed networks, E-ABIN ensures high predictive accuracy while maintaining interpretability. We demonstrate the utility of E-ABIN through case studies of bladder cancer and celiac disease, where it effectively uncovers biologically relevant anomalies and offers insights into disease mechanisms. E-ABIN is freely available on the Zenodo platform at https://doi.org/10.5281/zenodo.17062501.

NAR Genomics and BioinformaticsVol. 7(4)
Agostino Gemelli University Polyclinic (IT), Magna Graecia University (IT), Renatech (FR), University of Calabria (IT)
Openalex Percentile: Top 84%
Anomaly Detection Techniques and Applications
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