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The transcriptional response to genetic perturbation reveals fundamental insights into complex cellular systems. While current approaches have made progress in predicting genetic perturbation responses, they provide limited biological…

Molecular Networks · Quantitative Biology 2026-04-02 Yuanfang Xiang , Lun Ai

There is an increasing interest in the use of Deep Learning (DL) based methods as a supporting analytical framework in oncology. However, most direct applications of DL will deliver models with limited transparency and explainability, which…

Quantitative Methods · Quantitative Biology 2023-01-26 Magdalena Wysocka , Oskar Wysocki , Marie Zufferey , Dónal Landers , André Freitas

Genetic algorithms are a well-known example of bio-inspired heuristic methods. They mimic natural selection by modeling several operators such as mutation, crossover, and selection. Recent discoveries about Epigenetics regulation processes…

Neural and Evolutionary Computing · Computer Science 2023-03-20 Mohamed Djallel Dilmi , Hanene Azzag , Mustapha Lebbah

T cell receptor (TCR) repertoires encode critical immunological signatures for autoimmune diseases, yet their clinical application remains limited by sequence sparsity and low witness rates. We developed EAMil, a multi-instance deep…

Machine Learning · Computer Science 2025-11-25 Ruihao Zhang , Mao chen , Fei Ye , Dandan Meng , Yixuan Huang , Xiao Liu

Dermatological diseases are among the most common disorders worldwide. This paper presents the first study of the interpretability and imbalanced semi-supervised learning of the multiclass intelligent skin diagnosis framework (ISDL) using…

Computer Vision and Pattern Recognition · Computer Science 2024-06-11 Futian Weng , Yuanting Ma , Jinghan Sun , Shijun Shan , Qiyuan Li , Jianping Zhu , Yang Wang , Yan Xu

Accurate diagnosis of spitzoid tumors (ST) is critical to ensure a favorable prognosis and to avoid both under- and over-treatment. Epigenetic data, particularly DNA methylation, provide a valuable source of information for this task.…

We perform a statistical study of the distances between successive occurrencies of a given dinucleotide in the DNA sequence for a number of organisms of different complexity. Our analysis highlights peculiar features of the dinucleotide CG…

Quantitative Methods · Quantitative Biology 2016-04-27 Giulia Paci , Giampaolo Cristadoro , Barbara Monti , Marco Lenci , Mirko Degli Esposti , Gastone C. Castellani , Daniel Remondini

Rare diseases affect over 300 million individuals worldwide, yet timely and accurate diagnosis remains an urgent challenge. Patients often endure a prolonged diagnostic odyssey exceeding five years, marked by repeated referrals,…

Computation and Language · Computer Science 2026-02-17 Weike Zhao , Chaoyi Wu , Yanjie Fan , Xiaoman Zhang , Pengcheng Qiu , Yuze Sun , Xiao Zhou , Yanfeng Wang , Xin Sun , Ya Zhang , Yongguo Yu , Kun Sun , Weidi Xie

Diabetic Retinopathy (DR) is a non-negligible eye disease among patients with Diabetes Mellitus, and automatic retinal image analysis algorithm for the DR screening is in high demand. Considering the resolution of retinal image is very…

Computer Vision and Pattern Recognition · Computer Science 2019-11-14 Kang Zhou , Zaiwang Gu , Wen Liu , Weixin Luo , Jun Cheng , Shenghua Gao , Jiang Liu

The increasing use of ML in astronomy introduces important questions about interpretability. Due to their complexity and non-linear nature, it can be challenging to understand their decision-making process. While these models can…

Instrumentation and Methods for Astrophysics · Physics 2025-11-26 Edgar Ortiz Manrique , Médéric Boquien

Explainability is key to enhancing artificial intelligence's trustworthiness in medicine. However, several issues remain concerning the actual benefit of explainable models for clinical decision-making. Firstly, there is a lack of consensus…

Image and Video Processing · Electrical Eng. & Systems 2023-12-18 Kazuma Kobayashi , Yasuyuki Takamizawa , Mototaka Miyake , Sono Ito , Lin Gu , Tatsuya Nakatsuka , Yu Akagi , Tatsuya Harada , Yukihide Kanemitsu , Ryuji Hamamoto

Preventable or undiagnosed visual impairment and blindness affect billion of people worldwide. Automated multi-disease detection models offer great potential to address this problem via clinical decision support in diagnosis. In this work,…

Image and Video Processing · Electrical Eng. & Systems 2021-03-30 Dominik Müller , Iñaki Soto-Rey , Frank Kramer

DNA methylation is an intensely studied epigenetic mark implicated in many biological processes of direct clinical relevance. While sequencing based technologies are increasingly allowing high resolution measurements of DNA methylation,…

Quantitative Methods · Quantitative Biology 2014-10-27 Tom Mayo , Gabriele Schweikert , Guido Sanguinetti

Motivation: The consistent amount of different types of omics data requires novel methods of analysis and data integration. In this work we describe Regression2Net, a computational approach to analyse gene expression and methylation…

Computational Engineering, Finance, and Science · Computer Science 2015-07-06 Francesco Gadaleta , Kyrylo Bessonov

Knowledge-augmented learning enables the combination of knowledge-based and data-driven approaches. For anomaly detection and diagnosis, understandability is typically an important factor, especially in high-risk areas. Therefore,…

Machine Learning · Computer Science 2024-12-03 Martin Atzmueller , Tim Bohne , Patricia Windler

Problems involving multiple networks are prevalent in many scientific and other domains. In particular, network alignment, or the task of identifying corresponding nodes in different networks, has applications across the social and natural…

Social and Information Networks · Computer Science 2018-08-28 Mark Heimann , Haoming Shen , Tara Safavi , Danai Koutra

Deep learning-based classification of rare anemia disorders is challenged by the lack of training data and instance-level annotations. Multiple Instance Learning (MIL) has shown to be an effective solution, yet it suffers from low accuracy…

Machine Learning · Computer Science 2022-07-06 Salome Kazeminia , Ario Sadafi , Asya Makhro , Anna Bogdanova , Shadi Albarqouni , Carsten Marr

Background: Clinical diagnosis is typically reached by following a series of steps recommended by guidelines authored by colleges of experts. Accordingly, guidelines play a crucial role in rationalizing clinical decisions but suffer from…

Machine Learning · Computer Science 2024-04-10 Lillian Muyama , Antoine Neuraz , Adrien Coulet

Interpreting machine learning model decisions is crucial for high-risk applications like healthcare. In digital pathology, large whole slide images (WSIs) are decomposed into smaller tiles and tile-derived features are processed by…

Image and Video Processing · Electrical Eng. & Systems 2024-07-03 Tomé Albuquerque , Anil Yüce , Markus D. Herrmann , Alvaro Gomariz

Medical automatic diagnosis aims to imitate human doctors in real-world diagnostic processes and to achieve accurate diagnoses by interacting with the patients. The task is formulated as a sequential decision-making problem with a series of…

Machine Learning · Computer Science 2022-06-07 Hongyi Yuan , Sheng Yu