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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…

人工智能 · 计算机科学 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…

机器学习 · 计算机科学 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…

机器学习 · 计算机科学 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…

机器学习 · 计算机科学 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…

其他定量生物学 · 定量生物学 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…

机器学习 · 统计学 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…

计算机视觉与模式识别 · 计算机科学 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…

应用统计 · 统计学 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…

计算机视觉与模式识别 · 计算机科学 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…

机器学习 · 统计学 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…

机器学习 · 计算机科学 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…

计算机视觉与模式识别 · 计算机科学 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…

机器学习 · 统计学 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…

图像与视频处理 · 电气工程与系统科学 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…

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…

机器学习 · 统计学 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…

机器学习 · 计算机科学 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…

定量方法 · 定量生物学 2023-04-13 Aleksa Krsmanovic