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Primary Immune thrombocytopenia (ITP) is a rare autoimmune disease characterised by immune-mediated destruction of peripheral blood platelets in patients leading to low platelet counts and bleeding. The diagnosis and effective management of…

Machine Learning · Computer Science 2024-06-03 Haroon Miah , Dimitrios Kollias , Giacinto Luca Pedone , Drew Provan , Frederick Chen

Artificial intelligence (AI) techniques are widely applied in the life sciences. However, applying innovative AI techniques to understand and deconvolute biological complexity is hindered by the learning curve for life science scientists to…

Artificial Intelligence · Computer Science 2024-03-28 Nisha Pillai , Athish Ram Das , Moses Ayoola , Ganga Gireesan , Bindu Nanduri , Mahalingam Ramkumar

Modern electronic health records (EHRs) provide data to answer clinically meaningful questions. The growing data in EHRs makes healthcare ripe for the use of machine learning. However, learning in a clinical setting presents unique…

Machine Learning · Computer Science 2019-12-09 Marzyeh Ghassemi , Tristan Naumann , Peter Schulam , Andrew L. Beam , Irene Y. Chen , Rajesh Ranganath

The Internet of Medical Things transcends traditional medical boundaries, enabling a transition from reactive treatment to proactive prevention. This innovative method revolutionizes healthcare by facilitating early disease detection and…

Cryptography and Security · Computer Science 2025-09-04 Ayoub Si-ahmed , Mohammed Ali Al-Garadi , Narhimene Boustia

Machine Learning (ML) models typically require large-scale, balanced training data to be robust, generalizable, and effective in the context of healthcare. This has been a major issue for developing ML models for the coronavirus-disease…

Artificial Intelligence has revolutionised critical care for common conditions. Yet, rare conditions in the intensive care unit (ICU), including recognised rare diseases and low-prevalence conditions in the ICU, remain underserved due to…

Machine Learning · Computer Science 2025-07-10 Mingcheng Zhu , Yu Liu , Zhiyao Luo , Tingting Zhu

Detection of easily missed hidden patterns with fast processing power makes machine learning (ML) indispensable to today's healthcare system. Though many ML applications have already been discovered and many are still under investigation,…

Machine Learning · Computer Science 2023-07-27 Mrinmoy Roy , Sarwar J. Minar , Porarthi Dhar , A T M Omor Faruq

Rapid technological advances have allowed for molecular profiling across multiple omics domains from a single sample for clinical decision making in many diseases, especially cancer. As tumor development and progression are dynamic…

Methodology · Statistics 2022-02-11 Dongyan Yan , Subharup Guha

Multimorbidity, or the presence of several medical conditions in the same individual, has been increasing in the population, both in absolute and relative terms. However, multimorbidity remains poorly understood, and the evidence from…

We developed an explainable artificial intelligence (AI) early warning score (xAI-EWS) system for early detection of acute critical illness. While maintaining a high predictive performance, our system explains to the clinician on which…

Healthcare data are inherently multimodal, including electronic health records (EHR), medical images, and multi-omics data. Combining these multimodal data sources contributes to a better understanding of human health and provides optimal…

Machine Learning · Computer Science 2022-10-28 Farida Mohsen , Hazrat Ali , Nady El Hajj , Zubair Shah

The extraction of relevant data from Electronic Health Records (EHRs) is crucial to identifying symptoms and automating epidemiological surveillance processes. By harnessing the vast amount of unstructured text in EHRs, we can detect…

Computation and Language · Computer Science 2025-02-10 Juliano Genari , Guilherme Tegoni Goedert

Recently computer-aided diagnosis has demonstrated promising performance, effectively alleviating the workload of clinicians. However, the inherent sample imbalance among different diseases leads algorithms biased to the majority…

Computer Vision and Pattern Recognition · Computer Science 2025-02-10 Li Pan , Yupei Zhang , Qiushi Yang , Tan Li , Zhen Chen

Statistical learning with a large number of rare binary features is commonly encountered in analyzing electronic health records (EHR) data, especially in the modeling of disease onset with prior medical diagnoses and procedures. Dealing…

Machine Learning · Computer Science 2024-02-28 Jianmin Chen , Robert H. Aseltine , Fei Wang , Kun Chen

Recent advancements in the acquisition of various brain data sources have created new opportunities for integrating multimodal brain data to assist in early detection of complex brain disorders. However, current data integration approaches…

Image and Video Processing · Electrical Eng. & Systems 2023-05-26 Reza Shirkavand , Liang Zhan , Heng Huang , Li Shen , Paul M. Thompson

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare…

Computation and Language · Computer Science 2025-05-26 Valentina Carbonari , Pierangelo Veltri , Pietro Hiram Guzzi

Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual…

Computation and Language · Computer Science 2024-11-12 Jinge Wu , Hang Dong , Zexi Li , Haowei Wang , Runci Li , Arijit Patra , Chengliang Dai , Waqar Ali , Phil Scordis , Honghan Wu

Blood cultures are often over ordered without clear justification, straining healthcare resources and contributing to inappropriate antibiotic use pressures worsened by the global shortage. In study of 135483 emergency department (ED) blood…

The introduction of electronic personal health records (EHR) enables nationwide information exchange and curation among different health care systems. However, the current EHR systems do not provide transparent means for diagnosis support,…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-10-04 Dragi Kimovski , Sasko Ristov , Radu Prodan

To have the greatest impact, public health initiatives must be made using evidence-based decision-making. Machine learning Algorithms are created to gather, store, process, and analyse data to provide knowledge and guide decisions. A…

Machine Learning · Computer Science 2022-09-28 Imen Jdey , Ghazala Hcini , Hela Ltifi