103 research outputs found

    Machine Learning Approaches for the Prioritisation of Cardiovascular Disease Genes Following Genome- wide Association Study

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    Genome-wide association studies (GWAS) have revealed thousands of genetic loci, establishing itself as a valuable method for unravelling the complex biology of many diseases. As GWAS has grown in size and improved in study design to detect effects, identifying real causal signals, disentangling from other highly correlated markers associated by linkage disequilibrium (LD) remains challenging. This has severely limited GWAS findings and brought the method’s value into question. Although thousands of disease susceptibility loci have been reported, causal variants and genes at these loci remain elusive. Post-GWAS analysis aims to dissect the heterogeneity of variant and gene signals. In recent years, machine learning (ML) models have been developed for post-GWAS prioritisation. ML models have ranged from using logistic regression to more complex ensemble models such as random forests and gradient boosting, as well as deep learning models (i.e., neural networks). When combined with functional validation, these methods have shown important translational insights, providing a strong evidence-based approach to direct post-GWAS research. However, ML approaches are in their infancy across biological applications, and as they continue to evolve an evaluation of their robustness for GWAS prioritisation is needed. Here, I investigate the landscape of ML across: selected models, input features, bias risk, and output model performance, with a focus on building a prioritisation framework that is applied to blood pressure GWAS results and tested on re-application to blood lipid traits

    Cell Type Classification Via Deep Learning On Single-Cell Gene Expression Data

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    Single-cell sequencing is a recently advanced revolutionary technology which enables researchers to obtain genomic, transcriptomic, or multi-omics information through gene expression analysis. It gives the advantage of analyzing highly heterogenous cell type information compared to traditional sequencing methods, which is gaining popularity in the biomedical area. Moreover, this analysis can help for early diagnosis and drug development of tumor cells, and cancer cell types. In the workflow of gene expression data profiling, identification of the cell types is an important task, but it faces many challenges like the curse of dimensionality, sparsity, batch effect, and overfitting. However, these challenges can be overcome by performing a feature selection technique which selects more relevant features by reducing feature dimensions. In this research work, recurrent neural network-based feature selection model is proposed to extract relevant features from high dimensional, and low sample size data. Moreover, a deep learning-based gene embedding model is also proposed to reduce data sparsity of single-cell data for cell type identification. The proposed frameworks have been implemented with different architectures of recurrent neural networks, and demonstrated via real-world micro-array datasets and single-cell RNA-seq data and observed that the proposed models perform better than other feature selection models. A semi-supervised model is also implemented using the same workflow of gene embedding concept since labeling data is very cumbersome, time consuming, and requires manual effort and expertise in the field. Therefore, different ratios of labeled data are used in the experiment to validate the concept. Experimental results show that the proposed semi-supervised approach represents very encouraging performance even though a limited number of labeled data is used via the gene embedding concept. In addition, graph attention based autoencoder model has also been studied to learn the latent features by incorporating prior knowledge with gene expression data for cell type classification. Index Terms — Single-Cell Gene Expression Data, Gene Embedding, Semi-Supervised model, Incorporate Prior Knowledge, Gene-gene Interaction Network, Deep Learning, Graph Auto Encode

    Polygenic Risk Score for Cardiovascular Diseases in Artificial Intelligence Paradigm

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    Cardiovascular disease (CVD) related mortality and morbidity heavily strain society. The relationship between external risk factors and our genetics have not been well established. It is widely acknowledged that environmental influence and individual behaviours play a significant role in CVD vulnerability, leading to the development of polygenic risk scores (PRS). We employed the PRISMA search method to locate pertinent research and literature to extensively review artificial intelligence (AI)-based PRS models for CVD risk prediction. Furthermore, we analyzed and compared conventional vs. AI-based solutions for PRS. We summarized the recent advances in our understanding of the use of AI-based PRS for risk prediction of CVD. Our study proposes three hypotheses: i) Multiple genetic variations and risk factors can be incorporated into AI-based PRS to improve the accuracy of CVD risk predicting. ii) AI-based PRS for CVD circumvents the drawbacks of conventional PRS calculators by incorporating a larger variety of genetic and non-genetic components, allowing for more precise and individualised risk estimations. iii) Using AI approaches, it is possible to significantly reduce the dimensionality of huge genomic datasets, resulting in more accurate and effective disease risk prediction models. Our study highlighted that the AI-PRS model outperformed traditional PRS calculators in predicting CVD risk. Furthermore, using AI-based methods to calculate PRS may increase the precision of risk predictions for CVD and have significant ramifications for individualized prevention and treatment plans

    Polygenic Risk Score for Cardiovascular Diseases in Artificial Intelligence Paradigm: A Review

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    Cardiovascular disease (CVD) related mortality and morbidity heavily strain society. The relationship between external risk factors and our genetics have not been well established. It is widely acknowledged that environmental influence and individual behaviours play a significant role in CVD vulnerability, leading to the development of polygenic risk scores (PRS). We employed the PRISMA search method to locate pertinent research and literature to extensively review artificial intelligence (AI)-based PRS models for CVD risk prediction. Furthermore, we analyzed and compared conventional vs. AI-based solutions for PRS. We summarized the recent advances in our understanding of the use of AI-based PRS for risk prediction of CVD. Our study proposes three hypotheses: i) Multiple genetic variations and risk factors can be incorporated into AI-based PRS to improve the accuracy of CVD risk predicting. ii) AI-based PRS for CVD circumvents the drawbacks of conventional PRS calculators by incorporating a larger variety of genetic and non-genetic components, allowing for more precise and individualised risk estimations. iii) Using AI approaches, it is possible to significantly reduce the dimensionality of huge genomic datasets, resulting in more accurate and effective disease risk prediction models. Our study highlighted that the AI-PRS model outperformed traditional PRS calculators in predicting CVD risk. Furthermore, using AI-based methods to calculate PRS may increase the precision of risk predictions for CVD and have significant ramifications for individualized prevention and treatment plans

    Applicability domains of neural networks for toxicity prediction

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    In this paper, the term "applicability domain" refers to the range of chemical compounds for which the statistical quantitative structure-activity relationship (QSAR) model can accurately predict their toxicity. This is a crucial concept in the development and practical use of these models. First, a multidisciplinary review is provided regarding the theory and practice of applicability domains in the context of toxicity problems using the classical QSAR model. Then, the advantages and improved performance of neural networks (NNs), which are the most promising machine learning algorithms, are reviewed. Within the domain of medicinal chemistry, nine different methods using NNs for toxicity prediction were compared utilizing 29 alternative artificial intelligence (AI) techniques. Similarly, seven NN-based toxicity prediction methodologies were compared to six other AI techniques within the realm of food safety, 11 NN-based methodologies were compared to 16 different AI approaches in the environmental sciences category and four specific NN-based toxicity prediction methodologies were compared to nine alternative AI techniques in the field of industrial hygiene. Within the reviewed approaches, given known toxic compound descriptors and behaviors, we observed a difficulty in being able to extrapolate and predict the effects with untested chemical compounds. Different methods can be used for unsupervised clustering, such as distance-based approaches and consensus-based decision methods. Additionally, the importance of model validation has been highlighted within a regulatory context according to the Organization for Economic Co-operation and Development (OECD) principles, to predict the toxicity of potential new drugs in medicinal chemistry, to determine the limits of detection for harmful substances in food to predict the toxicity limits of chemicals in the environment, and to predict the exposure limits to harmful substances in the workplace. Despite its importance, a thorough application of toxicity models is still restricted in the field of medicinal chemistry and is virtually overlooked in other scientific domains. Consequently, only a small proportion of the toxicity studies conducted in medicinal chemistry consider the applicability domain in their mathematical models, thereby limiting their predictive power to untested drugs. Conversely, the applicability of these models is crucial; however, this has not been sufficiently assessed in toxicity prediction or in other related areas such as food science, environmental science, and industrial hygiene. Thus, this review sheds light on the prevalent use of Neural Networks in toxicity prediction, thereby serving as a valuable resource for researchers and practitioners across these multifaceted domains that could be extended to other fields in future research

    Jornadas Nacionales de Investigación en Ciberseguridad: actas de las VIII Jornadas Nacionales de Investigación en ciberseguridad: Vigo, 21 a 23 de junio de 2023

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    Jornadas Nacionales de Investigación en Ciberseguridad (8ª. 2023. Vigo)atlanTTicAMTEGA: Axencia para a modernización tecnolóxica de GaliciaINCIBE: Instituto Nacional de Cibersegurida

    Predictive and prescriptive modeling for the clinical management of dengue: a case study in Colombia

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    En esta investigación, abordamos el problema del manejo clínico del dengue, que se compone del diagnóstico y el tratamiento de la enfermedad. El dengue es una enfermedad tropical transmitida por vectores que está ampliamente distribuida en todo el mundo. El desarrollo de enfoques que ayuden a la toma de decisiones en enfermedades de interés para la salud pública –como el dengue– es necesario para reducir las tasas de morbilidad y mortalidad. A pesar de la existencia de guías para el manejo clínico, el diagnóstico y el tratamiento del dengue siguen siendo un reto. Para abordar este problema, nuestro objetivo fue desarrollar metodologías, modelos y enfoques para apoyar la toma de decisiones en relación con el manejo clínico de esta infección. Nosotros desarrollamos varios artículos de investigación para cumplir los objetivos propuestos de esta tesis. El primer articulo revisó las últimas tendencias del modelamiento de dengue usando técnicas de aprendizaje automático. El segundo artículo propuso un sistema de apoyo a la decisión para el diagnóstico del dengue utilizando mapas cognitivos difusos. El tercer artículo propuso un ciclo autónomo de tareas de análisis de datos para apoyar tanto el diagnóstico como el tratamiento de la enfermedad. El cuarto artículo presentó una metodología basada en mapas cognitivos difusos y algoritmos de optimización para generar modelos prescriptivos en entornos clínicos. El quinto artículo puso a prueba la metodología anteriormente mencionada en otros dominios de la ciencia como, por ejemplo, los negocios y la educación. Finalmente, el último artículo propuso tres enfoques de aprendizaje federado para garantizar la seguridad y privacidad de los datos relacionados con el manejo clínico del dengue. En cada artículo evaluamos dichas estrategias utilizando diversos conjuntos de datos con signos, síntomas, pruebas de laboratorio e información relacionada con el tratamiento de la enfermedad. Los resultados mostraron la capacidad de las metodologías y modelos desarrollados para predecir la enfermedad, clasificar a los pacientes según su severidad, evaluar el comportamiento de las variables relacionadas con la severidad y recomendar tratamientos basados en las directrices de la Organización Mundial de la Salud.In this research, we address the problem of clinical management of dengue, which is composed of diagnosis and treatment of the disease. Dengue is a vector-borne tropical disease that is widely distributed worldwide. The development of approaches to aid in decision-making for diseases of public health concern –such as dengue– are necessary to reduce morbidity and mortality rates. Despite the existence of clinical management guidelines, the diagnosis and treatment of dengue remains a challenge. To address this problem, our objective was to develop methodologies, models, and approaches to support decision-making regarding the clinical management of this infection. We developed several research articles to meet the proposed objectives of this thesis. The first article reviewed the latest trends in dengue modeling using machine learning (ML) techniques. The second article proposed a decision support system for the diagnosis of dengue using fuzzy cognitive maps (FCMs). The third article proposed an autonomous cycle of data analysis tasks to support both diagnosis and treatment of the disease. The fourth article presented a methodology based on FCMs and optimization algorithms to generate prescriptive models in clinical settings. The fifth article tested the previously mentioned methodology in other science domains such as, business and education. Finally, the last article proposed three federated learning approaches to guarantee the security and privacy of data related to the clinical management of dengue. In each article, we evaluated such strategies using diverse datasets with signs, symptoms, laboratory tests, and information related to the treatment of the disease. The results showed the ability of the developed methodologies and models to predict disease, classify patients according to severity, evaluate the behavior of severity-related variables, and recommend treatments based on World Health Organization (WHO) guidelines

    Systematic Approaches for Telemedicine and Data Coordination for COVID-19 in Baja California, Mexico

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    Conference proceedings info: ICICT 2023: 2023 The 6th International Conference on Information and Computer Technologies Raleigh, HI, United States, March 24-26, 2023 Pages 529-542We provide a model for systematic implementation of telemedicine within a large evaluation center for COVID-19 in the area of Baja California, Mexico. Our model is based on human-centric design factors and cross disciplinary collaborations for scalable data-driven enablement of smartphone, cellular, and video Teleconsul-tation technologies to link hospitals, clinics, and emergency medical services for point-of-care assessments of COVID testing, and for subsequent treatment and quar-antine decisions. A multidisciplinary team was rapidly created, in cooperation with different institutions, including: the Autonomous University of Baja California, the Ministry of Health, the Command, Communication and Computer Control Center of the Ministry of the State of Baja California (C4), Colleges of Medicine, and the College of Psychologists. Our objective is to provide information to the public and to evaluate COVID-19 in real time and to track, regional, municipal, and state-wide data in real time that informs supply chains and resource allocation with the anticipation of a surge in COVID-19 cases. RESUMEN Proporcionamos un modelo para la implementación sistemática de la telemedicina dentro de un gran centro de evaluación de COVID-19 en el área de Baja California, México. Nuestro modelo se basa en factores de diseño centrados en el ser humano y colaboraciones interdisciplinarias para la habilitación escalable basada en datos de tecnologías de teleconsulta de teléfonos inteligentes, celulares y video para vincular hospitales, clínicas y servicios médicos de emergencia para evaluaciones de COVID en el punto de atención. pruebas, y para el tratamiento posterior y decisiones de cuarentena. Rápidamente se creó un equipo multidisciplinario, en cooperación con diferentes instituciones, entre ellas: la Universidad Autónoma de Baja California, la Secretaría de Salud, el Centro de Comando, Comunicaciones y Control Informático. de la Secretaría del Estado de Baja California (C4), Facultades de Medicina y Colegio de Psicólogos. Nuestro objetivo es proporcionar información al público y evaluar COVID-19 en tiempo real y rastrear datos regionales, municipales y estatales en tiempo real que informan las cadenas de suministro y la asignación de recursos con la anticipación de un aumento de COVID-19. 19 casos.ICICT 2023: 2023 The 6th International Conference on Information and Computer Technologieshttps://doi.org/10.1007/978-981-99-3236-

    Technologies and Applications for Big Data Value

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    This open access book explores cutting-edge solutions and best practices for big data and data-driven AI applications for the data-driven economy. It provides the reader with a basis for understanding how technical issues can be overcome to offer real-world solutions to major industrial areas. The book starts with an introductory chapter that provides an overview of the book by positioning the following chapters in terms of their contributions to technology frameworks which are key elements of the Big Data Value Public-Private Partnership and the upcoming Partnership on AI, Data and Robotics. The remainder of the book is then arranged in two parts. The first part “Technologies and Methods” contains horizontal contributions of technologies and methods that enable data value chains to be applied in any sector. The second part “Processes and Applications” details experience reports and lessons from using big data and data-driven approaches in processes and applications. Its chapters are co-authored with industry experts and cover domains including health, law, finance, retail, manufacturing, mobility, and smart cities. Contributions emanate from the Big Data Value Public-Private Partnership and the Big Data Value Association, which have acted as the European data community's nucleus to bring together businesses with leading researchers to harness the value of data to benefit society, business, science, and industry. The book is of interest to two primary audiences, first, undergraduate and postgraduate students and researchers in various fields, including big data, data science, data engineering, and machine learning and AI. Second, practitioners and industry experts engaged in data-driven systems, software design and deployment projects who are interested in employing these advanced methods to address real-world problems
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