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Rare diseases affecting 350 million individuals are commonly associated with delay in diagnosis or misdiagnosis. To improve those patients' outcome, rare disease detection is an important task for identifying patients with rare conditions…

Machine Learning · Computer Science 2019-07-03 Kezi Yu , Yunlong Wang , Yong Cai , Cao Xiao , Emily Zhao , Lucas Glass , Jimeng Sun

Rare diseases affect a relatively small number of people, which limits investment in research for treatments and cures. Developing an efficient method for rare disease detection is a crucial first step towards subsequent clinical research.…

Machine Learning · Computer Science 2018-12-04 Wenyuan Li , Yunlong Wang , Yong Cai , Corey Arnold , Emily Zhao , Yilian Yuan

Anomaly detection is often considered a challenging field of machine learning due to the difficulty of obtaining anomalous samples for training and the need to obtain a sufficient amount of training data. In recent years, autoencoders have…

Machine Learning · Computer Science 2018-10-15 Yotam Intrator , Gilad Katz , Asaf Shabtai

Rare diseases represent the long tail of medical imaging, where AI models often fail due to the scarcity of representative training data. In clinical workflows, radiologists frequently consult case reports and literature when confronted…

Computation and Language · Computer Science 2025-11-10 Ha Young Kim , Jun Li , Ana Beatriz Solana , Carolin M. Pirkl , Benedikt Wiestler , Julia A. Schnabel , Cosmin I. Bercea

With the development of convolutional neural network, deep learning has shown its success for retinal disease detection from optical coherence tomography (OCT) images. However, deep learning often relies on large scale labelled data for…

Computer Vision and Pattern Recognition · Computer Science 2020-02-04 Kang Zhou , Shenghua Gao , Jun Cheng , Zaiwang Gu , Huazhu Fu , Zhi Tu , Jianlong Yang , Yitian Zhao , Jiang Liu

Convolutional Neural Networks (CNNs) can play a key role in Medical Image Analysis under large-scale annotated datasets. However, preparing such massive dataset is demanding. In this context, Generative Adversarial Networks (GANs) can…

Image and Video Processing · Electrical Eng. & Systems 2021-06-04 Changhee Han

The goal of anomaly detection is to identify anomalous samples from normal ones. In this paper, a small number of anomalies are assumed to be available at the training stage, but they are assumed to be collected only from several anomaly…

Machine Learning · Computer Science 2022-05-03 Bowen Tian , Qinliang Su , Jian Yin

Precise identification and localization of disease-specific features at the pixel-level are particularly important for early diagnosis, disease progression monitoring, and effective treatment in medical image analysis. However, conventional…

Image and Video Processing · Electrical Eng. & Systems 2025-02-26 Muhammad Nawaz , Basma Nasir , Tehseen Zia , Zawar Hussain , Catarina Moreira

Despite remarkable performance in producing realistic samples, Generative Adversarial Networks (GANs) often produce low-quality samples near low-density regions of the data manifold, e.g., samples of minor groups. Many techniques have been…

Machine Learning · Computer Science 2021-10-28 Jinhee Lee , Haeri Kim , Youngkyu Hong , Hye Won Chung

Anomaly detection is a significant problem faced in several research areas. Detecting and correctly classifying something unseen as anomalous is a challenging problem that has been tackled in many different manners over the years.…

Machine Learning · Computer Science 2021-09-15 Federico Di Mattia , Paolo Galeone , Michele De Simoni , Emanuele Ghelfi

In this work, we present our various contributions to the objective of building a decision support tool for the diagnosis of rare diseases. Our goal is to achieve a state of knowledge where the uncertainty about the patient's disease is…

Convolutional Neural Network (CNN)-based accurate prediction typically requires large-scale annotated training data. In Medical Imaging, however, both obtaining medical data and annotating them by expert physicians are challenging; to…

Computer Vision and Pattern Recognition · Computer Science 2019-05-30 Changhee Han , Kohei Murao , Shin'ichi Satoh , Hideki Nakayama

Millions of patients suffer from rare diseases around the world. However, the samples of rare diseases are much smaller than those of common diseases. In addition, due to the sensitivity of medical data, hospitals are usually reluctant to…

Machine Learning · Computer Science 2021-12-30 Bingyang Chen , Tao Chen , Xingjie Zeng , Weishan Zhang , Qinghua Lu , Zhaoxiang Hou , Jiehan Zhou , Sumi Helal

Anomaly detection is the process of finding data points that deviate from a baseline. In a real-life setting, anomalies are usually unknown or extremely rare. Moreover, the detection must be accomplished in a timely manner or the risk of…

Machine Learning · Computer Science 2019-04-26 Mariem Ben Fadhel , Kofi Nyarko

Anomaly detection is a task that recognizes whether an input sample is included in the distribution of a target normal class or an anomaly class. Conventional generative adversarial network (GAN)-based methods utilize an entire image…

Computer Vision and Pattern Recognition · Computer Science 2021-04-01 Jou Won Song , Kyeongbo Kong , Ye In Park , Suk-Ju Kang

Automated medical image classification is the key component in intelligent diagnosis systems. However, most medical image datasets contain plenty of samples of common diseases and just a handful of rare ones, leading to major class…

Computer Vision and Pattern Recognition · Computer Science 2023-07-21 Jia-Xin Zhuang , Jiabin Cai , Jianguo Zhang , Wei-shi Zheng , Ruixuan Wang

Anomaly detection in medical imaging is a challenging task in contexts where abnormalities are not annotated. This problem can be addressed through unsupervised anomaly detection (UAD) methods, which identify features that do not match with…

Image and Video Processing · Electrical Eng. & Systems 2023-09-07 Geoffroy Oudoumanessah , Carole Lartizien , Michel Dojat , Florence Forbes

Anomaly detection is a significant and hence well-studied problem. However, developing effective anomaly detection methods for complex and high-dimensional data remains a challenge. As Generative Adversarial Networks (GANs) are able to…

Machine Learning · Computer Science 2018-12-07 Houssam Zenati , Manon Romain , Chuan Sheng Foo , Bruno Lecouat , Vijay Ramaseshan Chandrasekhar

Diabetic Retinopathy (DR) is a prevalent illness associated with Diabetes which, if left untreated, can result in irreversible blindness. Deep Learning based systems are gradually being introduced as automated support for clinical…

Image and Video Processing · Electrical Eng. & Systems 2023-12-14 Samrat Mukherjee , Dibyanayan Bandyopadhyay , Baban Gain , Asif Ekbal

Artificial neural network (ANN) ability to learn, correct errors, and transform a large amount of raw data into useful medical decisions for treatment and care have increased its popularity for enhanced patient safety and quality of care.…

Machine Learning · Computer Science 2021-12-08 Muhammad Azeem , Shumaila Javaid , Hamza Fahim , Nasir Saeed
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