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In this paper we propose network methodology to infer prognostic cancer biomarkers based on the epigenetic pattern DNA methylation. Epigenetic processes such as DNA methylation reflect environmental risk factors, and are increasingly…

Applications · Statistics 2016-08-02 Thomas E. Bartlett , Alexey Zaikin

Interpretable insights from predictive models remain critical in bio-statistics, particularly when assessing causality, where classical statistical and machine learning methods often provide inherent clarity. While Neural Networks (NNs)…

Applications · Statistics 2025-05-02 Jean-Baptiste A. Conan

Black-box deep learning approaches have showcased significant potential in the realm of medical image analysis. However, the stringent trustworthiness requirements intrinsic to the medical field have catalyzed research into the utilization…

Computer Vision and Pattern Recognition · Computer Science 2024-01-17 Yequan Bie , Luyang Luo , Hao Chen

Deep neural networks excel in mapping genomic DNA sequences to associated readouts (e.g., protein-DNA binding). Beyond prediction, the goal of these networks is to reveal to scientists the underlying motifs (and their syntax) which drive…

Genomics · Quantitative Biology 2024-10-10 Alex M. Tseng , Gokcen Eraslan , Tommaso Biancalani , Gabriele Scalia

DNA methylation is a well-studied genetic modification that regulates gene transcription of Eukaryotes. Its alternations have been recognized as a significant component of cancer development. In this study, we use the DNA methylation 450k…

Tissues and Organs · Quantitative Biology 2021-01-05 Shen Jia , Yulin Zhang , Yiming Mao , Jiawei Gao , Yixuan Chen , Yuxuan Jiang , Haochen Luo , Kebo Lv , Jionglong Su

Mechanistic interpretability is an emerging diagnostic approach for neural models that has gained traction in broader natural language processing domains. This paradigm aims to provide attribution to components of neural systems where…

Information Retrieval · Computer Science 2025-01-20 Andrew Parry , Catherine Chen , Carsten Eickhoff , Sean MacAvaney

The objective of this study is to predict suicidal and non-suicidal deaths from DNA methylation data using a modern machine learning algorithm. We used support vector machines to classify existing secondary data consisting of normalized…

Genomics · Quantitative Biology 2020-04-07 Rifat Zahan , Ian McQuillan , Nathaniel D. Osgood

Representation learning on electronic health records (EHRs) plays a vital role in downstream medical prediction tasks. Although natural language processing techniques, such as recurrent neural networks, and self-attention, have been adapted…

Artificial Intelligence · Computer Science 2026-01-12 Xueping Peng , Guodong Long , Tao Shen , Sen Wang , Chengqi Zhang , Allison Clarke , Clement Schlegel

Epigenetic clocks based on DNA methylation have emerged as powerful tools for estimating biological age, with broad applications in aging research, age-related disease studies, and longevity science. Despite advances across machine learning…

Artificial Intelligence · Computer Science 2026-05-12 Yao Li , Xikun Zhang , Xiaotao Shen , Sonika Tyagi , Xin Zheng , Jiaxing Huang , Feng Xia

Interpretability is essential in medical imaging to ensure that clinicians can comprehend and trust artificial intelligence models. In this paper, we propose a novel interpretable approach that combines attribute regularization of the…

Image and Video Processing · Electrical Eng. & Systems 2023-12-15 Maxime Di Folco , Cosmin I. Bercea , Julia A. Schnabel

Access to diverse, well-annotated medical images with interactive learning tools is fundamental for training practitioners in medicine and related fields to improve their diagnostic skills and understanding of anatomical structures. While…

Computer Vision and Pattern Recognition · Computer Science 2026-05-07 Miguel Diaz Benito , Cecilia Diana Albelda , Alvaro Garcia Martin , Jesus Bescos Cano , Marcos Escudero-Vinolo , Juan C. SanMiguel

Background and Aims: Large language models (LLMs) have shown remarkable generalization and transfer capabilities by learning from vast corpora of text and web data. Their semantic representations allow cross-task knowledge transfer and…

Machine Learning · Computer Science 2025-09-25 Yuqi Jin , Zhenhao Shuai , Zihan Hu , Weiteng Zhang , Weihao Xie , Jianwei Shuai , Xian Shen , Zhen Feng

Large reasoning models (LRMs) have shown significant progress in test-time scaling through chain-of-thought prompting. Current approaches like search-o1 integrate retrieval augmented generation (RAG) into multi-step reasoning processes but…

Computation and Language · Computer Science 2026-01-21 Kaiwen Wei , Rui Shan , Dongsheng Zou , Jianzhong Yang , Bi Zhao , Junnan Zhu , Jiang Zhong

Liver cirrhosis is a major global health problem causing millions of deaths annually, and timely detection with aggressive treatment can significantly improve patients' quality of life. Modelling complex diseases from biomedical data is…

Other Quantitative Biology · Quantitative Biology 2026-04-29 Xueyuan Huang , Yuheng Wang , Yuanzhi He , Siqi Gou , Lu Bai , Wenqian Wu , Peifeng Liu , Aijia Wang , Tianhui Fan , Ze Zhou , Jiayu Xu

Model interpretability is an increasingly important component of practical machine learning. Some of the most common forms of interpretability systems are example-based, local, and global explanations. One of the main challenges in…

Machine Learning · Computer Science 2019-01-08 Gregory Plumb , Denali Molitor , Ameet Talwalkar

A mutation in the DNA of a single cell that compromises its function initiates leukemia,leading to the overproduction of immature white blood cells that encroach upon the space required for the generation of healthy blood cells.Leukemia is…

Computer Vision and Pattern Recognition · Computer Science 2025-01-27 Md. Abu Ahnaf Mollick , Md. Mahfujur Rahman , D. M. Asadujjaman , Abdullah Tamim , Nosin Anjum Dristi , Md. Takbir Hossen

Computational pathology models that use digitized histopathology whole-slide images have the potential to become a cost-effective and scalable alternative to molecular assays for the prediction of genomic biomarkers, a key task in precision…

Quantitative Methods · Quantitative Biology 2026-03-03 Ekaterina Redekop , Eric Zimmermann , Ava P Amini , Alex X Lu , Neil Tenenholtz , James Brian Hall , Lorin Crawford , Kristen A Severson

Developing interpretable models for neurodevelopmental disorders (NDDs) diagnosis presents significant challenges in effectively encoding, decoding, and integrating multimodal neuroimaging data. While many existing machine learning…

Computer Vision and Pattern Recognition · Computer Science 2026-04-24 Yueyang Li , Lei Chen , Wenhao Dong , Shengyu Gong , Zijian Kang , Boyang Wei , Weiming Zeng , Hongjie Yan , Lingbin Bian , Zhiguo Zhang , Wai Ting Siok , Nizhuan Wang

Explainable Artificial Intelligence (AI) in the form of an interpretable and semiautomatic approach to stage grading ocular pathologies such as Diabetic retinopathy, Hypertensive retinopathy, and other retinopathies on the backdrop of major…

Image and Video Processing · Electrical Eng. & Systems 2022-12-15 Ayushi Raj Bhatt , Rajkumar Vaghashiya , Meghna Kulkarni , Dr Prakash Kamaraj

The proliferation of high-dimensional datasets in fields such as genomics, healthcare, and finance has created an urgent need for machine learning models that are both highly accurate and inherently interpretable. While traditional deep…

Machine Learning · Computer Science 2025-10-28 Rekha R Nair , Tina Babu , Alavikunhu Panthakkan , Hussain Al-Ahmad , Balamurugan Balusamy