Integrative methods for analysing big data in precision medicine

We provide an overview of recent developments in big data analyses in the context of precision medicine and health informatics. With the advance in technologies capturing molecular and medical data, we entered the area of “Big Data” in biology and medicine. These data offer many opportunities to advance precision medicine. We outline key challenges in precision medicine and present recent advances in data integration-based methods to uncover personalized information from big data produced by various omics studies. We survey recent integrative methods for disease subtyping, biomarkers discovery, and drug repurposing, and list the tools that are available to domain scientists. Given the ever-growing nature of these big data, we highlight key issues that big data integration methods will face

Disease diagnosis in smart healthcare: Innovation, technologies and applications

To promote sustainable development, the smart city implies a global vision that merges artificial intelligence, big data, decision making, information and communication technology (ICT), and the internet-of-things (IoT). The ageing issue is an aspect that researchers, companies and government should devote efforts in developing smart healthcare innovative technology and applications. In this paper, the topic of disease diagnosis in smart healthcare is reviewed. Typical emerging optimization algorithms and machine learning algorithms are summarized. Evolutionary optimization, stochastic optimization and combinatorial optimization are covered. Owning to the fact that there are plenty of applications in healthcare, four applications in the field of diseases diagnosis (which also list in the top 10 causes of global death in 2015), namely cardiovascular diseases, diabetes mellitus, Alzheimer’s disease and other forms of dementia, and tuberculosis, are considered. In addition, challenges in the deployment of disease diagnosis in healthcare have been discussed

Application of Machine Learning in Healthcare and Medicine: A Review

This extensive literature review investigates the integration of Machine Learning (ML) into the healthcare sector, uncovering its potential, challenges, and strategic resolutions. The main objective is to comprehensively explore how ML is incorporated into medical practices, demonstrate its impact, and provide relevant solutions. The research motivation stems from the necessity to comprehend the convergence of ML and healthcare services, given its intricate implications. Through meticulous analysis of existing research, this method elucidates the broad spectrum of ML applications in disease prediction and personalized treatment. The research's precision lies in dissecting methodologies, scrutinizing studies, and extrapolating critical insights. The article establishes that ML has succeeded in various aspects of medical care. In certain studies, ML algorithms, especially Convolutional Neural Networks (CNNs), have achieved high accuracy in diagnosing diseases such as lung cancer, colorectal cancer, brain tumors, and breast tumors. Apart from CNNs, other algorithms like SVM, RF, k-NN, and DT have also proven effective. Evaluations based on accuracy and F1-score indicate satisfactory results, with some studies exceeding 90% accuracy. This principal finding underscores the impressive accuracy of ML algorithms in diagnosing diverse medical conditions. This outcome signifies the transformative potential of ML in reshaping conventional diagnostic techniques. Discussions revolve around challenges like data quality, security risks, potential misinterpretations, and obstacles in integrating ML into clinical realms. To mitigate these, multifaceted solutions are proposed, encompassing standardized data formats, robust encryption, model interpretation, clinician training, and stakeholder collaboration

Exploring Privacy-Preserving Disease Diagnosis: A Comparative Analysis

In the healthcare sector, data is considered as a valuable asset, with enormous amounts generated in the form of patient records and disease-related information. Leveraging machine learning techniques enables the analysis of extensive datasets, unveiling hidden patterns in diseases, facilitating personalized treatments, and forecasting potential health issues. However, the flourish of online diagnosis and prediction still faces some challenges related to information security and privacy as disease diagnosis technologies utilizes a lot of clinical records and sensitive patient data. Hence, it becomes imperative to prioritize the development of innovative methodologies that not only advance the accuracy and efficiency of disease prediction but also ensure the highest standards of privacy protection. This requires collaborative efforts between researchers, healthcare practitioners, and policymakers to establish a comprehensive framework that addresses the evolving landscape of healthcare data while safeguarding individual privacy. Addressing this constraint, numerous researchers integrate privacy preservation measures with disease prediction techniques to develop a system capable of diagnosing diseases without compromising the confidentiality of sensitive information. The survey paper conducts a comparative analysis of privacy-preserving techniques employed in disease diagnosis and prediction. It explores existing methodologies across various domains, assessing their efficacy and trade-offs in maintaining data confidentiality while optimizing diagnostic accuracy. The review highlights the need for robust privacy measures in disease prediction, shortcomings related to existing techniques of privacy preserving disease diagnosis, and provides insights into promising directions for future research in this critical intersection of healthcare and privacy preservation

Enhanced Neurologic Concept Recognition using a Named Entity Recognition Model based on Transformers

Although Deep Learning Has Been Applied to the Recognition of Diseases and Drugs in Electronic Health Records and the Biomedical Literature, Relatively Little Study Has Been Devoted to the Utility of Deep Learning for the Recognition of Signs and Symptoms. the Recognition of Signs and Symptoms is Critical to the Success of Deep Phenotyping and Precision Medicine. We Have Developed a Named Entity Recognition Model that Uses Deep Learning to Identify Text Spans Containing Neurological Signs and Symptoms and Then Maps These Text Spans to the Clinical Concepts of a Neuro-Ontology. We Compared a Model based on Convolutional Neural Networks to One based on Bidirectional Encoder Representation from Transformers. Models Were Evaluated for Accuracy of Text Span Identification on Three Text Corpora: Physician Notes from an Electronic Health Record, Case Histories from Neurologic Textbooks, and Clinical Synopses from an Online Database of Genetic Diseases. Both Models Performed Best on the Professionally-Written Clinical Synopses and Worst on the Physician-Written Clinical Notes. Both Models Performed Better When Signs and Symptoms Were Represented as Shorter Text Spans. Consistent with Prior Studies that Examined the Recognition of Diseases and Drugs, the Model based on Bidirectional Encoder Representations from Transformers Outperformed the Model based on Convolutional Neural Networks for Recognizing Signs and Symptoms. Recall for Signs and Symptoms Ranged from 59.5% to 82.0% and Precision Ranged from 61.7% to 80.4%. with Further Advances in NLP, Fully Automated Recognition of Signs and Symptoms in Electronic Health Records and the Medical Literature Should Be Feasible