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Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder characterized by progressive cognitive decline and widespread epigenetic dysregulation in the brain. DNA methylation, as a stable yet dynamic epigenetic modification,…

Genomics · Quantitative Biology 2026-01-05 Gang Qu , Guanghao Li , Zhongming Zhao

DNA methylation is an epigenetic mechanism that regulates gene expression by adding methyl groups to DNA. Abnormal methylation patterns can disrupt gene expression and have been linked to cancer development. To quantify DNA methylation,…

Image and Video Processing · Electrical Eng. & Systems 2025-04-09 Manahil Raza , Muhammad Dawood , Talha Qaiser , Nasir M. Rajpoot

Drug-drug interaction(DDI) prediction is an important task in the medical health machine learning community. This study presents a new method, multi-view graph contrastive representation learning for drug-drug interaction prediction,…

Machine Learning · Computer Science 2021-04-13 Yingheng Wang , Yaosen Min , Xin Chen , Ji Wu

Postoperative complications remain a critical concern in clinical practice, adversely affecting patient outcomes and contributing to rising healthcare costs. We present MIRACLE, a deep learning architecture for prediction of risk of…

Computer Vision and Pattern Recognition · Computer Science 2026-01-21 Shubham Pandey , Bhavin Jawade , Srirangaraj Setlur , Venu Govindaraju , Kenneth Seastedt

DNA methylation is a well-studied genetic modification crucial to regulate the functioning of the genome. Its alterations play an important role in tumorigenesis and tumor-suppression. Thus, studying DNA methylation data may help biomarker…

Genomics · Quantitative Biology 2018-04-16 Fabrizio Celli , Fabio Cumbo , Emanuel Weitschek

Missing data is an important problem in machine learning practice. Starting from the premise that imputation methods should preserve the causal structure of the data, we develop a regularization scheme that encourages any baseline…

Machine Learning · Computer Science 2021-11-08 Trent Kyono , Yao Zhang , Alexis Bellot , Mihaela van der Schaar

Interpretability is crucial to enhance trust in machine learning models for medical diagnostics. However, most state-of-the-art image classifiers based on neural networks are not interpretable. As a result, clinicians often resort to known…

Major Depressive Disorder (MDD) is a clinically heterogeneous syndrome with diverse etiological pathways. Traditional Epigenome-Wide Association Studies (EWAS) have successfully identified risk loci based on differential methylation…

Computational Engineering, Finance, and Science · Computer Science 2026-01-27 Mingyan Liu , Min Huang

Retinal imaging provides a non-invasive window into systemic microvascular health and has emerged as a potential biomarker for systemic diseases. However, whether retinal features encode biologically meaningful systemic signals that can be…

Image and Video Processing · Electrical Eng. & Systems 2026-05-26 Mini Han Wang , Liting Huang , Wei Hong , Boonthawan Wingwon

Accurate computational identification of DNA methylation is essential for understanding epigenetic regulation. Although deep learning excels in this binary classification task, its "black-box" nature impedes biological insight. We address…

Machine Learning · Computer Science 2026-02-27 Yi He , Yina Cao , Jixiu Zhai , Di Wang , Junxiao Kong , Tianchi Lu

Medulloblastoma is a malignant pediatric brain cancer, and the discovery of molecular subgroups is enabling personalized treatment strategies. In 2019, a consensus identified eight novel subtypes within Groups 3 and 4, each displaying…

Genomics · Quantitative Biology 2025-10-06 Omer Abid , Gholamreza Rafiee

An interpretable machine learning (ML) framework is introduced to enhance the diagnosis of Mild Cognitive Impairment (MCI) and Alzheimer's disease (AD) by ensuring robustness of the ML models' interpretations. The dataset used comprises…

Interpretability of deep learning is widely used to evaluate the reliability of medical imaging models and reduce the risks of inaccurate patient recommendations. For models exceeding human performance, e.g. predicting RNA structure from…

Quantitative Methods · Quantitative Biology 2022-08-31 Mara Graziani , Niccolò Marini , Nicolas Deutschmann , Nikita Janakarajan , Henning Müller , María Rodríguez Martínez

Integrating multi-omics data, such as DNA methylation, mRNA expression, and microRNA (miRNA) expression, offers a comprehensive view of the biological mechanisms underlying disease. However, the high dimensionality of multi-omics data, the…

Machine Learning · Computer Science 2026-02-12 Tiantian Yang , Zhiqian Chen

Functional connectivity (FC) derived from resting-state fMRI is widely used to characterize large-scale brain network alterations in neurological and psychiatric disorders. However, FC construction critically depends on the choice of brain…

Neurons and Cognition · Quantitative Biology 2026-05-11 Minheng Chen , Chao Cao , Jing Zhang , Tianming Liu , Dajiang Zhu

DNA Methylation has been the most extensively studied epigenetic mark. Usually a change in the genotype, DNA sequence, leads to a change in the phenotype, observable characteristics of the individual. But DNA methylation, which happens in…

Genomics · Quantitative Biology 2018-07-26 Soham Chatterjee , Archana Iyer , Satya Avva , Abhai Kollara , Malaikannan Sankarasubbu

Over the last years, huge resources of biological and medical data have become available for research. This data offers great chances for machine learning applications in health care, e.g. for precision medicine, but is also challenging to…

Quantitative Methods · Quantitative Biology 2016-12-21 Lisa Handl , Adrin Jalali , Michael Scherer , Nico Pfeifer

Anonymized electronic medical records are an increasingly popular source of research data. However, these datasets often lack race and ethnicity information. This creates problems for researchers modeling human disease, as race and…

Quantitative Methods · Quantitative Biology 2018-05-01 Ji-Sung Kim , Xin Gao , Andrey Rzhetsky

Single-cell datasets often lack individual cell labels, making it challenging to identify cells associated with disease. To address this, we introduce Mixture Modeling for Multiple Instance Learning (MMIL), an expectation maximization…

Quantitative Methods · Quantitative Biology 2024-06-13 Erin Craig , Timothy Keyes , Jolanda Sarno , Maxim Zaslavsky , Garry Nolan , Kara Davis , Trevor Hastie , Robert Tibshirani

Cell-free DNA (cfDNA) analysis is a powerful, minimally invasive tool for monitoring disease progression, treatment response, and early detection. A major challenge, however, is accurately determining the tissue of origin, especially in…

Genomics · Quantitative Biology 2025-06-03 Keng-Jung Lee , Dharanya Sampath , Konstantinos Mavrommatis
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