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Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

Genomics · Quantitative Biology 2007-05-23 Zhong Li , Aris Floratos , David Wang , Andrea Califano

We propose a representation learning framework for medical diagnosis domain. It is based on heterogeneous network-based model of diagnostic data as well as modified metapath2vec algorithm for learning latent node representation. We compare…

Machine Learning · Computer Science 2020-01-24 Karol Antczak

The training of deep learning models relies on a large amount of labeled data. However, the high cost of medical labeling seriously hinders the development of deep learning in the medical field. Our study proposes a general disease…

Computer Vision and Pattern Recognition · Computer Science 2025-03-04 Yan Su , Qiulin Wu , Weizhen Li , Chengchang Pan , Honggang Qi

Deep neural networks (DNN) have been used successfully in many scientific problems for their high prediction accuracy, but their application to genetic studies remains challenging due to their poor interpretability. In this paper, we…

Machine Learning · Computer Science 2021-10-01 Peyman H. Kassani , Fred Lu , Yann Le Guen , Zihuai He

Motivation. Cancer heterogeneity is observed at multiple biological levels. To improve our understanding of these differences and their relevance in medicine, approaches to link organ- and tissue-level information from diagnostic images and…

Quantitative Methods · Quantitative Biology 2020-05-19 Nova F. Smedley , Suzie El-Saden , William Hsu

In binary classification, there are situations where negative (N) data are too diverse to be fully labeled and we often resort to positive-unlabeled (PU) learning in these scenarios. However, collecting a non-representative N set that…

Machine Learning · Computer Science 2019-07-16 Yu-Guan Hsieh , Gang Niu , Masashi Sugiyama

Generative adversarial networks (GANs) are one powerful type of deep learning models that have been successfully utilized in numerous fields. They belong to a broader family called generative methods, which generate new data with a…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

In domains where transparency and trustworthiness are crucial, such as healthcare, rule-based systems are widely used and often preferred over black-box models for decision support systems due to their inherent interpretability. However, as…

Machine Learning · Computer Science 2025-06-18 Christel Sirocchi , Damiano Verda

Most of the existing methods for anomaly detection use only positive data to learn the data distribution, thus they usually need a pre-defined threshold at the detection stage to determine whether a test instance is an outlier.…

Machine Learning · Computer Science 2019-03-19 Kai Tian , Shuigeng Zhou , Jianping Fan , Jihong Guan

Identification of the influential clinical symptoms and laboratory features that help in the diagnosis of dengue fever in early phase of the illness would aid in designing effective public health management and virological surveillance…

Machine Learning · Statistics 2015-02-03 Vadrevu Sree Hari Rao , Mallenahalli Naresh Kumar

Deep neural networks (DNN) have shown remarkable success in the classification of physiological signals. In this study we propose a method for examining to what extent does a DNN's performance rely on rediscovering existing features of the…

Machine Learning · Statistics 2020-08-26 Tom Beer , Bar Eini-Porat , Sebastian Goodfellow , Danny Eytan , Uri Shalit

Motivation: Predicting gene-disease associations (GDAs) is the problem to determine which gene is associated with a disease. GDA prediction can be framed as a ranking problem where genes are ranked for a query disease, based on features…

Quantitative Methods · Quantitative Biology 2026-02-03 Fernando Zhapa-Camacho , Robert Hoehndorf

Transcriptional profiling on microarrays to obtain gene expressions has been used to facilitate cancer diagnosis. We propose a deep generative machine learning architecture (called DeepCancer) that learn features from unlabeled microarray…

Artificial Intelligence · Computer Science 2016-12-14 Rajendra Rana Bhat , Vivek Viswanath , Xiaolin Li

Knowledge discovery is hindered by the increasing volume of publications and the scarcity of extensive annotated data. To tackle the challenge of information overload, it is essential to employ automated methods for knowledge extraction and…

Artificial Intelligence · Computer Science 2025-04-15 Christos Theodoropoulos , Andrei Catalin Coman , James Henderson , Marie-Francine Moens

Human nail diseases are gradually observed over all age groups, especially among older individuals, often going ignored until they become severe. Early detection and accurate diagnosis of such conditions are important because they sometimes…

Computer Vision and Pattern Recognition · Computer Science 2026-02-05 Farzia Hossain , Samanta Ghosh , Shahida Begum , B. M. Shahria Alam , Mohammad Tahmid Noor , Md Parvez Mia , Nishat Tasnim Niloy

Many real-world applications have to tackle the Positive-Unlabeled (PU) learning problem, i.e., learning binary classifiers from a large amount of unlabeled data and a few labeled positive examples. While current state-of-the-art methods…

Machine Learning · Computer Science 2020-06-23 Xuxi Chen , Wuyang Chen , Tianlong Chen , Ye Yuan , Chen Gong , Kewei Chen , Zhangyang Wang

Biomedical image segmentation is critical for precise structure delineation and downstream analysis. Traditional methods often struggle with noisy data, while deep learning models such as U-Net have set new benchmarks in segmentation…

Computer Vision and Pattern Recognition · Computer Science 2025-11-10 Shuo Zhao , Yu Zhou , Jianxu Chen

Deep learning based medical image diagnosis has shown great potential in clinical medicine. However, it often suffers two major difficulties in real-world applications: 1) only limited labels are available for model training, due to…

Computer Vision and Pattern Recognition · Computer Science 2020-08-26 Yifan Zhang , Ying Wei , Qingyao Wu , Peilin Zhao , Shuaicheng Niu , Junzhou Huang , Mingkui Tan

Gene selection plays a pivotal role in oncology research for improving outcome prediction accuracy and facilitating cost-effective genomic profiling for cancer patients. This paper introduces two gene selection strategies for deep…

Genomics · Quantitative Biology 2024-03-05 Akhila Krishna , Ravi Kant Gupta , Pranav Jeevan , Amit Sethi