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A key step in medical diagnosis is giving the patient a universally recognized label (e.g. Appendicitis) which essentially assigns the patient to a class(es) of patients with similar body failures. However, two patients having the same…

Artificial Intelligence · Computer Science 2019-09-10 Moshe BenBassat

Modeling disease progression through multiple stages is critical for clinical decision-making for chronic diseases, e.g., cancer, diabetes, chronic kidney diseases, and so on. Existing approaches often model the disease progression as a…

Machine Learning · Computer Science 2025-03-04 Haoyu Yang , Sanjoy Dey , Pablo Meyer

Clinical diagnosis, which aims to assign diagnosis codes for a patient based on the clinical note, plays an essential role in clinical decision-making. Considering that manual diagnosis could be error-prone and time-consuming, many…

Computation and Language · Computer Science 2021-01-28 Yichao Du , Pengfei Luo , Xudong Hong , Tong Xu , Zhe Zhang , Chao Ren , Yi Zheng , Enhong Chen

The rapid global aging trend has led to an increase in dementia cases, including Alzheimer's disease, underscoring the urgent need for early and accurate diagnostic methods. Traditional diagnostic techniques, such as cognitive tests,…

Machine Learning · Computer Science 2024-09-06 Juan A. Berrios Moya

Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease…

Machine Learning · Computer Science 2013-10-17 Shandian Zhe , Zenglin Xu , Yuan Qi

Cancer disease occurs because of a disorder in the cellular regulatory mechanism, Which causes cellular malformation. The genes that start the malformation are called Cancer driver genes (CDGs) . Numerous computational methods have been…

Molecular Networks · Quantitative Biology 2020-12-16 Mostafa Akhavan Safar , Babak Teimourpour , Mehrdad Kargari

How can we identify causal genetic mechanisms that govern bacterial traits? Initial efforts entrusting machine learning models to handle the task of predicting phenotype from genotype return high accuracy scores. However, attempts to…

Genomics · Quantitative Biology 2025-02-12 Tamsin James , Ben Williamson , Peter Tino , Nicole Wheeler

Imputation of missing attribute values in medical datasets for extracting hidden knowledge from medical datasets is an interesting research topic of interest which is very challenging. One cannot eliminate missing values in medical records.…

Databases · Computer Science 2016-03-11 Yelipe UshaRani , P. Sammulal

We present a coherent Bayesian framework for selection of the most likely model from the five genetic models (genotypic, additive, dominant, co-dominant, and recessive) commonly used in genetic association studies. The approach uses a…

Methodology · Statistics 2015-04-22 Harold Bae , Thomas Perls , Martin Steinberg , Paola Sebastiani

Worldwide, several cases go undiagnosed due to poor healthcare support in remote areas. In this context, a centralized system is needed for effective monitoring and analysis of the medical records. A web-based patient diagnostic system is a…

Computer Vision and Pattern Recognition · Computer Science 2021-07-06 Harish Rajora , Narinder Singh Punn , Sanjay Kumar Sonbhadra , Sonali Agarwal

Algorithms and technologies are essential tools that pervade all aspects of our daily lives. In the last decades, health care research benefited from new computer-based recruiting methods, the use of federated architectures for data…

Computers and Society · Computer Science 2023-01-26 Chiara Criscuolo , Tommaso Dolci , Mattia Salnitri

Identifying the mutations that drive cancer growth is key in clinical decision making and precision oncology. As driver mutations confer selective advantage and thus have an increased likelihood of occurrence, frequency-based statistical…

Genomics · Quantitative Biology 2021-05-04 Adnan Akbar , Andrey Solovyev , John W Cassidy , Nirmesh Patel , Harry W Clifford

Applying machine learning in the health care domain has shown promising results in recent years. Interpretable outputs from learning algorithms are desirable for decision making by health care personnel. In this work, we explore the…

Machine Learning · Computer Science 2017-11-30 Marcus Klasson , Kun Zhang , Bo C. Bertilson , Cheng Zhang , Hedvig Kjellström

Machine learning has been successfully used in critical domains, such as medicine. However, extracting meaningful insights from biomedical data is often constrained by the lack of their available disease labels. In this research, we…

Quantitative Methods · Quantitative Biology 2025-04-02 Hido Pinto , Eran Segal

Disease occurs due to aberrant expression of genes and modulation of the biological pathways along which they lie. Inference of activated gene pathways, using gene expression data during disease progression, is an important problem. In this…

Genomics · Quantitative Biology 2012-08-27 Arvind Rao , Alfred O. Hero , III

Biomedical research has revealed the crucial role of miRNAs in the progression of many diseases, and computational prediction methods are increasingly proposed for assisting biological experiments to verify miRNA-disease associations…

Computational Engineering, Finance, and Science · Computer Science 2023-08-29 Yi Zhou , Meixuan Wu , Chengzhou Ouyang , Min Zhu

Thanks to the increasing availability of genomics and other biomedical data, many machine learning approaches have been proposed for a wide range of therapeutic discovery and development tasks. In this survey, we review the literature on…

Machine Learning · Computer Science 2021-05-05 Kexin Huang , Cao Xiao , Lucas M. Glass , Cathy W. Critchlow , Greg Gibson , Jimeng Sun

Accurate disease detection is of paramount importance for effective medical treatment and patient care. However, the process of disease detection is often associated with extensive medical testing and considerable costs, making it…

Machine Learning · Computer Science 2025-12-10 Haokun Zhao , Yingzhe Bai , Qingyang Xu , Lixin Zhou , Jianxin Chen , Jicong Fan

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

We predict disease-genes relations on the Human Interactome network using a methodology that jointly learns functional and connectivity patterns surrounding proteins. Contrary to other data structures, the Interactome is characterized by…

Molecular Networks · Quantitative Biology 2019-02-27 Lorenzo Madeddu , Giovanni Stilo , Paola Velardi
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