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While deep learning has achieved great success in many fields, one common criticism about deep learning is its lack of interpretability. In most cases, the hidden units in a deep neural network do not have a clear semantic meaning or…

Genomics · Quantitative Biology 2019-06-04 Tianle Ma , Aidong Zhang

Adopting Convolutional Neural Networks (CNNs) in the daily routine of primary diagnosis requires not only near-perfect precision, but also a sufficient degree of generalization to data acquisition shifts and transparency. Existing CNN…

Computer Vision and Pattern Recognition · Computer Science 2023-06-22 Mara Graziani , Sebastian Otalora , Stephane Marchand-Maillet , Henning Muller , Vincent Andrearczyk

The interpretability of deep learning is crucial for evaluating the reliability of medical imaging models and reducing the risks of inaccurate patient recommendations. This study addresses the "human out of the loop" and "trustworthiness"…

Computer Vision and Pattern Recognition · Computer Science 2024-07-01 Haozhe Luo , Aurélie Pahud de Mortanges , Oana Inel , Abraham Bernstein , Mauricio Reyes

Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and pathway identification using DNA language model, graph…

Quantitative Methods · Quantitative Biology 2024-11-12 Ali Saadat , Jacques Fellay

Multiple Sclerosis (MS) is a chronic autoimmune disease of the central nervous system whose molecular mechanisms remain incompletely understood. In this study, we developed an end-to-end machine learning pipeline to analyze transcriptomic…

Interpretability is essential in medical imaging to ensure that clinicians can comprehend and trust artificial intelligence models. Several approaches have been recently considered to encode attributes in the latent space to enhance its…

Image and Video Processing · Electrical Eng. & Systems 2024-08-27 Maxime Di Folco , Cosmin I. Bercea , Emily Chan , Julia A. Schnabel

Identifying genetic regulators of DNA methylation (mQTLs) with multivariate models enhances statistical power, but is challenged by missing data from bisulfite sequencing. Standard imputation-based methods can introduce bias, limiting…

Motivation: DNA methylation is an intensely studied epigenetic mark, yet its functional role is incompletely understood. Attempts to quantitatively associate average DNA methylation to gene expression yield poor correlations outside of the…

Genomics · Quantitative Biology 2016-11-17 Chantriolnt-Andreas Kapourani , Guido Sanguinetti

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

Multiple instance learning (MIL) has emerged as the dominant paradigm for whole slide image (WSI) analysis in computational pathology, achieving strong diagnostic performance through patch-level feature aggregation. However, existing MIL…

Computer Vision and Pattern Recognition · Computer Science 2025-11-17 Yiran Song , Yikai Zhang , Shuang Zhou , Guojun Xiong , Xiaofeng Yang , Nian Wang , Fenglong Ma , Rui Zhang , Mingquan Lin

In supervised learning for medical image analysis, sample selection methodologies are fundamental to attain optimum system performance promptly and with minimal expert interactions (e.g. label querying in an active learning setup). In this…

Computer Vision and Pattern Recognition · Computer Science 2021-04-14 Dwarikanath Mahapatra

We focus on the problem of training convolutional neural networks on gigapixel histopathology images to predict image-level targets. For this purpose, we extend Neural Image Compression (NIC), an image compression framework that reduces the…

Image and Video Processing · Electrical Eng. & Systems 2020-04-16 David Tellez , Diederik Hoppener , Cornelis Verhoef , Dirk Grunhagen , Pieter Nierop , Michal Drozdzal , Jeroen van der Laak , Francesco Ciompi

Development of interpretable machine learning models for clinical healthcare applications has the potential of changing the way we understand, treat, and ultimately cure, diseases and disorders in many areas of medicine. These models can…

Machine Learning · Computer Science 2019-08-06 Qingzhu Gao , Humberto Gonzalez , Parvez Ahammad

Alterations in the geometry and function of the heart define well-established causes of cardiovascular disease. However, current approaches to the diagnosis of cardiovascular diseases often rely on subjective human assessment as well as…

Computer Vision and Pattern Recognition · Computer Science 2018-07-19 Carlo Biffi , Ozan Oktay , Giacomo Tarroni , Wenjia Bai , Antonio De Marvao , Georgia Doumou , Martin Rajchl , Reem Bedair , Sanjay Prasad , Stuart Cook , Declan O'Regan , Daniel Rueckert

Accurate cancer survival prediction requires integration of diverse data modalities that reflect the complex interplay between imaging, clinical parameters, and textual reports. However, existing multimodal approaches suffer from simplistic…

Machine Learning · Computer Science 2025-07-01 Aakash Tripathi , Asim Waqas , Matthew B. Schabath , Yasin Yilmaz , Ghulam Rasool

Glioblastomas, constituting over 50% of malignant brain tumors, are highly aggressive brain tumors that pose substantial treatment challenges due to their rapid progression and resistance to standard therapies. The methylation status of the…

Image and Video Processing · Electrical Eng. & Systems 2025-08-25 Hafeez Ur Rehman , Sumaiya Fazal , Moutaz Alazab , Ali Baydoun

Multi-task learning (MTL) is to learn one single model that performs multiple tasks for achieving good performance on all tasks and lower cost on computation. Learning such a model requires to jointly optimize losses of a set of tasks with…

Computer Vision and Pattern Recognition · Computer Science 2020-09-25 Wei-Hong Li , Hakan Bilen

Deep learning methods for ophthalmic diagnosis have shown considerable success in tasks like segmentation and classification. However, their widespread application is limited due to the models being opaque and vulnerable to making a wrong…

Image and Video Processing · Electrical Eng. & Systems 2021-01-29 Amitojdeep Singh , Sourya Sengupta , Mohammed Abdul Rasheed , Varadharajan Jayakumar , Vasudevan Lakshminarayanan

Melanoma is a prevalent lethal type of cancer that is treatable if diagnosed at early stages of development. Skin lesions are a typical indicator for diagnosing melanoma but they often led to delayed diagnosis due to high similarities of…

Machine Learning · Computer Science 2023-03-28 Ruitong Sun , Mohammad Rostami

The emerging field of epigenetics has recently unveiled a dynamic landscape in which gene expression is not determined solely by genetic sequences but also by intricate regulatory mechanisms. This review examines the interactions between…

Other Quantitative Biology · Quantitative Biology 2026-02-09 Yu-Li He , Youshin Loh
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