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Building trustworthy clinical AI systems requires not only accurate predictions but also transparent, biologically grounded explanations. We present \texttt{DiagnoLLM}, a hybrid framework that integrates Bayesian deconvolution, eQTL-guided…

Artificial Intelligence · Computer Science 2025-11-18 Bowen Xu , Xinyue Zeng , Jiazhen Hu , Tuo Wang , Adithya Kulkarni

The key to success in machine learning (ML) is the use of effective data representations. Traditionally, data representations were hand-crafted. Recently it has been demonstrated that, given sufficient data, deep neural networks can learn…

Machine Learning · Computer Science 2018-11-09 Ivan Olier , Oghenejokpeme I. Orhobor , Joaquin Vanschoren , Ross D. King

Understanding how small molecules perturb gene expression is essential for uncovering drug mechanisms, predicting off-target effects, and identifying repurposing opportunities. While prior deep learning frameworks have integrated multimodal…

Machine Learning · Computer Science 2026-01-01 Pascal Passigan , Kevin Zhu , Angelina Ning

The use of machine learning (ML) techniques in the biomedical field has become increasingly important, particularly with the large amounts of data generated by the aftermath of the COVID-19 pandemic. However, due to the complex nature of…

Machine Learning · Computer Science 2023-03-17 Anthony Onoja , Francesco Raimondi

DNA cytosine methylation is a critical epigenetic mark regulating gene expression and thus playing an important role in development and differentiation across eukaryotes. Existing tools for high-throughput methylation analysis often lack…

Other Quantitative Biology · Quantitative Biology 2025-10-29 Jonas Bucher , Ueli Grossniklaus , Deepak Kumar Tanwar

Interpretability has emerged as a crucial aspect of building trust in machine learning systems, aimed at providing insights into the working of complex neural networks that are otherwise opaque to a user. There are a plethora of existing…

Machine Learning · Statistics 2021-01-19 Rushil Anirudh , Jayaraman J. Thiagarajan , Rahul Sridhar , Peer-Timo Bremer

Currently intelligent diagnosis systems lack the ability of continually learning to diagnose new diseases once deployed, under the condition of preserving old disease knowledge. In particular, updating an intelligent diagnosis system with…

Computer Vision and Pattern Recognition · Computer Science 2023-08-08 Wentao Zhang , Yujun Huang , Tong Zhang , Qingsong Zou , Wei-Shi Zheng , Ruixuan Wang

High-throughput technologies such as next generation sequencing allow biologists to observe cell function with unprecedented resolution, but the resulting datasets are too large and complicated for humans to understand without the aid of…

Applications · Statistics 2021-10-08 David S. Watson

Recent advances in prototypical learning have shown remarkable potential to provide useful decision interpretations associating activation maps and predictions with class-specific training prototypes. Such prototypical learning has been…

Computer Vision and Pattern Recognition · Computer Science 2025-04-07 Chong Wang , Fengbei Liu , Yuanhong Chen , Helen Frazer , Gustavo Carneiro

The accurate classification of lymphoma subtypes using hematoxylin and eosin (H&E)-stained tissue is complicated by the wide range of morphological features these cancers can exhibit. We present LymphoML - an interpretable machine learning…

DNA methylation (DNAme) is a critical component of the epigenetic regulatory machinery and aberrations in DNAme patterns occur in many diseases, such as cancer. Mapping and understanding DNAme profiles offers considerable promise for…

Exponential growth in Electronic Healthcare Records (EHR) has resulted in new opportunities and urgent needs for discovery of meaningful data-driven representations and patterns of diseases in Computational Phenotyping research. Deep…

Machine Learning · Statistics 2015-12-14 Zhengping Che , Sanjay Purushotham , Robinder Khemani , Yan Liu

Understanding causal heterogeneity is essential for scientific discovery in domains such as biology and medicine. However, existing methods lack causal awareness, with insufficient modeling of heterogeneity, confounding, and observational…

Machine Learning · Computer Science 2025-10-29 Wenrui Li , Qinghao Zhang , Xiaowo Wang

Large-scale volumetric medical images with annotation are rare, costly, and time prohibitive to acquire. Self-supervised learning (SSL) offers a promising pre-training and feature extraction solution for many downstream tasks, as it only…

Computer Vision and Pattern Recognition · Computer Science 2023-03-16 Ke Yu , Li Sun , Junxiang Chen , Max Reynolds , Tigmanshu Chaudhary , Kayhan Batmanghelich

Despite great advances, molecular cancer pathology is often limited to the use of a small number of biomarkers rather than the whole transcriptome, partly due to computational challenges. Here, we introduce a novel architecture of Deep…

Machine Learning · Statistics 2019-08-14 Behrooz Azarkhalili , Ali Saberi , Hamidreza Chitsaz , Ali Sharifi-Zarchi

Deep learning classifiers provide the most accurate means of automatically diagnosing diabetic retinopathy (DR) based on optical coherence tomography (OCT) and its angiography (OCTA). The power of these models is attributable in part to the…

Image and Video Processing · Electrical Eng. & Systems 2023-06-28 Pengxiao Zang , Tristan T. Hormel , Jie Wang , Yukun Guo , Steven T. Bailey , Christina J. Flaxel , David Huang , Thomas S. Hwang , Yali Jia

Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…

Quantitative Methods · Quantitative Biology 2020-04-13 Thomas Gaudelet , Noel Malod-Dognin , Jon Sanchez-Valle , Vera Pancaldi , Alfonso Valencia , Natasa Przulj

Deep Learning based models are currently dominating most state-of-the-art solutions for disease prediction. Existing works employ RNNs along with multiple levels of attention mechanisms to provide interpretability. These deep learning…

Machine Learning · Statistics 2022-06-01 Subhadip Maji , Raghav Bali , Sree Harsha Ankem , Kishore V Ayyadevara

Recent deep learning methods for fMRI-based diagnosis have achieved promising accuracy by modeling functional connectivity networks. However, standard approaches often struggle with noisy interactions, and conventional post-hoc attribution…

Machine Learning · Computer Science 2026-02-25 Kunyu Zhang , Yanwu Yang , Jing Zhang , Xiangjie Shi , Shujian Yu

DNA methylation is a significant driver of cell-type heterogeneity and has been implicated in various regulatory processes ranging from cell differentiation to imprinting. As the methyl group is embedded in the DNA molecule, assessing DNA…

Quantitative Methods · Quantitative Biology 2023-04-13 Aleksa Krsmanovic