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Related papers: Knowledge Graph Sparsification for GNN-based Rare …

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Understanding disease similarity is critical for advancing diagnostics, drug discovery, and personalized treatment strategies. We present PhenoGnet, a novel graph-based contrastive learning framework designed to predict disease similarity…

Genomics · Quantitative Biology 2025-09-18 Ranga Baminiwatte , Kazi Jewel Rana , Aaron J. Masino

Network data can be conveniently modeled as a graph signal, where data values are assigned to the nodes of a graph describing the underlying network topology. Successful learning from network data requires methods that effectively exploit…

Signal Processing · Electrical Eng. & Systems 2020-10-22 Samuel Pfrommer , Fernando Gama , Alejandro Ribeiro

Graph neural networks (GNNs) have achieved extraordinary enhancements in various areas including the fields medical imaging and network neuroscience where they displayed a high accuracy in diagnosing challenging neurological disorders such…

Machine Learning · Computer Science 2022-09-14 Mehmet Yigit Balik , Arwa Rekik , Islem Rekik

Graph Neural Networks (GNNs) have demonstrated a great potential in a variety of graph-based applications, such as recommender systems, drug discovery, and object recognition. Nevertheless, resource-efficient GNN learning is a rarely…

Machine Learning · Computer Science 2022-02-18 Zihui Xue , Yuedong Yang , Mengtian Yang , Radu Marculescu

Graph classification is a crucial task in many real-world multimedia applications, where graphs can represent various multimedia data types such as images, videos, and social networks. Previous efforts have applied graph neural networks…

Machine Learning · Computer Science 2023-09-08 Zhengyang Mao , Wei Ju , Yifang Qin , Xiao Luo , Ming Zhang

Real data collected from different applications that have additional topological structures and connection information are amenable to be represented as a weighted graph. Considering the node labeling problem, Graph Neural Networks (GNNs)…

Social and Information Networks · Computer Science 2020-02-06 Xiaoxiao Li , Joao Saude

Rare diseases have extremely low-data regimes, unlike common diseases with large amount of available labeled data. Hence, to train a neural network to classify rare diseases with a few per-class data samples is very challenging, and so far,…

Computer Vision and Pattern Recognition · Computer Science 2020-07-16 Xiaomeng Li , Lequan Yu , Yueming Jin , Chi-Wing Fu , Lei Xing , Pheng-Ann Heng

Predicting genetic perturbations enables the identification of potentially crucial genes prior to wet-lab experiments, significantly improving overall experimental efficiency. Since genes are the foundation of cellular life, building gene…

Quantitative Methods · Quantitative Biology 2025-05-09 Changxi Chi , Jun Xia , Jingbo Zhou , Jiabei Cheng , Chang Yu , Stan Z. Li

The genetic etiologies of common diseases are highly complex and heterogeneous. Classic statistical methods, such as linear regression, have successfully identified numerous genetic variants associated with complex diseases. Nonetheless,…

Applications · Statistics 2020-10-28 Jinghang Lin , Xiaoran Tong , Chenxi Li , Qing Lu

Disease-gene prediction (DGP) refers to the computational challenge of predicting associations between genes and diseases. Effective solutions to the DGP problem have the potential to accelerate the therapeutic development pipeline at early…

Machine Learning · Computer Science 2019-07-15 Vikash Singh , Pietro Lio'

The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…

Artificial Intelligence · Computer Science 2024-08-06 Shivika Prasanna , Ajay Kumar , Deepthi Rao , Eduardo Simoes , Praveen Rao

Despite the impressive advances achieved using deep learning for functional brain activity analysis, the heterogeneity of functional patterns and the scarcity of imaging data still pose challenges in tasks such as identifying neurological…

Image and Video Processing · Electrical Eng. & Systems 2025-05-30 Wenhui Cui , Haleh Akrami , Anand A. Joshi , Richard M. Leahy

Understanding disease-gene associations is essential for unravelling disease mechanisms and advancing diagnostics and therapeutics. Traditional approaches based on manual curation and literature review are labour-intensive and not scalable,…

Machine Learning · Computer Science 2026-02-24 Osman Onur Kuzucu , Tunca Doğan

Multi-omics data offer unprecedented insights into complex biological systems, yet their high dimensionality, sparsity, and intricate interactions pose significant analytical challenges. Network-based approaches have advanced multi-omics…

Rare disease diagnosis requires matching variant-bearing genes to complex patient phenotypes across large and heterogeneous evidence sources. This process remains time-intensive in current clinical interpretation pipelines. To overcome…

Genomics · Quantitative Biology 2026-03-09 Jaeyeon Lee , Lin Yao , Hyun-Hwan Jeong , Zhandong Liu

Rare genetic disorders affect more than 6% of the global population. Reaching a diagnosis is challenging because rare disorders are very diverse. Many disorders have recognizable facial features that are hints for clinicians to diagnose…

Computer Vision and Pattern Recognition · Computer Science 2023-02-27 Alexander Hustinx , Fabio Hellmann , Ömer Sümer , Behnam Javanmardi , Elisabeth André , Peter Krawitz , Tzung-Chien Hsieh

Gene expression datasets offer insights into gene regulation mechanisms, biochemical pathways, and cellular functions. Additionally, comparing gene expression profiles between disease and control patients can deepen the understanding of…

Machine Learning · Computer Science 2025-03-27 Rita T. Sousa , Heiko Paulheim

Lots of learning tasks require dealing with graph data which contains rich relation information among elements. Modeling physics systems, learning molecular fingerprints, predicting protein interface, and classifying diseases demand a model…

Machine Learning · Computer Science 2021-10-07 Jie Zhou , Ganqu Cui , Shengding Hu , Zhengyan Zhang , Cheng Yang , Zhiyuan Liu , Lifeng Wang , Changcheng Li , Maosong Sun

Dementia is a progressive neurodegenerative disorder with multiple etiologies, including Alzheimer's disease, Parkinson's disease, frontotemporal dementia, and vascular dementia. Its clinical and biological heterogeneity makes diagnosis and…

Machine Learning · Computer Science 2025-09-24 Niharika Tewari , Nguyen Linh Dan Le , Mujie Liu , Jing Ren , Ziqi Xu , Tabinda Sarwar , Veeky Baths , Feng Xia

Objective: In modern healthcare, accurately predicting diseases is a crucial matter. This study introduces a novel approach using graph neural networks (GNNs) and a Graph Transformer (GT) to predict the incidence of heart failure (HF) on a…

Machine Learning · Computer Science 2025-06-23 Heloisa Oss Boll , Ali Amirahmadi , Amira Soliman , Stefan Byttner , Mariana Recamonde-Mendoza