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Big Data in Omics and Imaging: Association Analysis addresses the recent development of association analysis and machine learning for both population and family genomic data in sequencing era. It is unique in that it presents both hypothesis testing and a data mining approach to holistically dissecting the genetic structure of complex traits and to designing efficient strategies for precision medicine. The general frameworks for association analysis and machine learning, developed in the text, can be applied to genomic, epigenomic and imaging data. FEATURES Bridges the gap between the traditional statistical methods and computational tools for small genetic and epigenetic data analysis and the modern advanced statistical methods for big data Provides tools for high dimensional data reduction Discusses searching algorithms for model and variable selection including randomization algorithms, Proximal methods and matrix subset selection Provides real-world examples and case studies Will have an accompanying website with R code The book is designed for graduate students and researchers in genomics, bioinformatics, and data science. It represents the paradigm shift of genetic studies of complex diseases– from shallow to deep genomic analysis, from low-dimensional to high dimensional, multivariate to functional data analysis with next-generation sequencing (NGS) data, and from homogeneous populations to heterogeneous population and pedigree data analysis. Topics covered are: advanced matrix theory, convex optimization algorithms, generalized low rank models, functional data analysis techniques, deep learning principle and machine learning methods for modern association, interaction, pathway and network analysis of rare and common variants, biomarker identification, disease risk and drug response prediction.
Big Data in Omics and Imaging: Integrated Analysis and Causal Inference addresses the recent development of integrated genomic, epigenomic and imaging data analysis and causal inference in big data era. Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), genome-wide expression studies (GWES), and epigenome-wide association studies (EWAS), the overall contribution of the new identified genetic variants is small and a large fraction of genetic variants is still hidden. Understanding the etiology and causal chain of mechanism underlying complex diseases remains elusive. It is time to bring big data, machine learning and causal revolution to developing a new generation of genetic analysis for shifting the current paradigm of genetic analysis from shallow association analysis to deep causal inference and from genetic analysis alone to integrated omics and imaging data analysis for unraveling the mechanism of complex diseases. FEATURES Provides a natural extension and companion volume to Big Data in Omic and Imaging: Association Analysis, but can be read independently. Introduce causal inference theory to genomic, epigenomic and imaging data analysis Develop novel statistics for genome-wide causation studies and epigenome-wide causation studies. Bridge the gap between the traditional association analysis and modern causation analysis Use combinatorial optimization methods and various causal models as a general framework for inferring multilevel omic and image causal networks Present statistical methods and computational algorithms for searching causal paths from genetic variant to disease Develop causal machine learning methods integrating causal inference and machine learning Develop statistics for testing significant difference in directed edge, path, and graphs, and for assessing causal relationships between two networks The book is designed for graduate students and researchers in genomics, epigenomics, medical image, bioinformatics, and data science. Topics covered are: mathematical formulation of causal inference, information geometry for causal inference, topology group and Haar measure, additive noise models, distance correlation, multivariate causal inference and causal networks, dynamic causal networks, multivariate and functional structural equation models, mixed structural equation models, causal inference with confounders, integer programming, deep learning and differential equations for wearable computing, genetic analysis of function-valued traits, RNA-seq data analysis, causal networks for genetic methylation analysis, gene expression and methylation deconvolution, cell –specific causal networks, deep learning for image segmentation and image analysis, imaging and genomic data analysis, integrated multilevel causal genomic, epigenomic and imaging data analysis.
A “genotype" is essentially an organism's full hereditary information which is obtained from its parents. A "phenotype" is an organism's actual observed physical and behavioral properties. These may include traits such as morphology, size, height, eye color, metabolism, etc. One of the pressing challenges in computational and systems biology is genotype-to-phenotype prediction. This is challenging given the amount of data generated by modern Omics technologies. This “Big Data” is so large and complex that traditional data processing applications are not up to the task. Challenges arise in collection, analysis, mining, sharing, transfer, visualization, archiving, and integration of these data. In this Special Issue, there is a focus on the systems-level analysis of Omics data, recent developments in gene ontology annotation, and advances in biological pathways and network biology. The integration of Omics data with clinical and biomedical data using machine learning is explored. This Special Issue covers new methodologies in the context of gene–environment interactions, tissue-specific gene expression, and how external factors or host genetics impact the microbiome.
There is an urgent need to develop and integrate new statistical, mathematical, visualization, and computational models with the ability to analyze Big Data in order to retrieve useful information to aid clinicians in accurately diagnosing and treating patients. The main focus of this book is to review and summarize state-of-the-art big data and deep learning approaches to analyze and integrate multiple data types for the creation of a decision matrix to aid clinicians in the early diagnosis and identification of high risk patients for human diseases and disorders. Leading researchers will contribute original research book chapters analyzing efforts to solve these important problems.
Much of the emphasis in discussions about personalized medicine has been focused on the molecular characterization of tissue samples using microarray technology. However, as genetic differ between and within tumors and are quite heterogeneous, these techniques are limited. Imaging is noninvasive and is often used in routine clinical practice for disease diagnosis, treatment, and prognosis. Imaging is useful to guide disease therapy by providing a more comprehensive view of the entire lesion and it can be used on an ongoing basis to monitor lesion growth and progression or its response to treatment. The imaging includes but not limited to ultrasound, X-ray, computed tomography (CT), magnetic resonance imaging (MRI), positron emission tomography (PET). Radiomics refers to the conversion of images to high dimensional data and the subsequent mining for characterization of biology and ultimately to improve disease management for patients. Radiogenomics investigates relationships between imaging features and genomics, which represents the correlation between the anatomical-histological level to the genomic level. With advanced artificial intelligence methods, especially deep learning, data processing, feature extraction and data integration have been greatly improved. The topic is about artificial intelligence methods in biomedical images and genomics data for disease diagnosis, treatment, and prognosis, as listed here: • Biomarker identification from biomedical images to predict disease diagnosis, treatment, and prognosis • Radiogenomics/image-omics in identifying imaging biomarkers associated with molecular characteristics of the disease. • Machine learning/deep learning methods in biomedical imaging or genomics for disease detection and precision medicine. • Prediction of histological characteristics of disease based on biomedical imaging. • Integration of radiomics and genomics features for disease diagnosis, prognosis, and prediction medicine • Multimodality images or multi-omics data integration methods
As technology evolves and electronic data becomes more complex, digital medical record management and analysis becomes a challenge. In order to discover patterns and make relevant predictions based on large data sets, researchers and medical professionals must find new methods to analyze and extract relevant health information. Big Data Analytics in Bioinformatics and Healthcare merges the fields of biology, technology, and medicine in order to present a comprehensive study on the emerging information processing applications necessary in the field of electronic medical record management. Complete with interdisciplinary research resources, this publication is an essential reference source for researchers, practitioners, and students interested in the fields of biological computation, database management, and health information technology, with a special focus on the methodologies and tools to manage massive and complex electronic information.
In most modern biomedical research projects, application of high-throughput genomic, proteomic, and transcriptomic experiments has gradually become an inevitable component. Popular technologies include microarray, next generation sequencing, mass spectrometry and proteomics assays. As the technologies have become mature and the price affordable, omics data are rapidly generated, and the problem of information integration and modeling of multi-lab and/or multi-omics data is becoming a growing one in the bioinformatics field. This book provides comprehensive coverage of these topics and will have a long-lasting impact on this evolving subject. Each chapter, written by a leader in the field, introduces state-of-the-art methods to handle information integration, experimental data, and database problems of omics data.
This book features multi-omics big-data integration and data-mining techniques. In the omics age, paramount of multi-omics data from various sources is the new challenge we are facing, but it also provides clues for several biomedical or clinical applications. This book focuses on data integration and data mining methods for multi-omics research, which explains in detail and with supportive examples the “What”, “Why” and “How” of the topic. The contents are organized into eight chapters, out of which one is for the introduction, followed by four chapters dedicated for omics integration techniques focusing on several omics data resources and data-mining methods, and three chapters dedicated for applications of multi-omics analyses with application being demonstrated by several data mining methods. This book is an attempt to bridge the gap between the biomedical multi-omics big data and the data-mining techniques for the best practice of contemporary bioinformatics and the in-depth insights for the biomedical questions. It would be of interests for the researchers and practitioners who want to conduct the multi-omics studies in cancer, inflammation disease, and microbiome researches.
The field of medical imaging seen rapid development over the last two decades and has consequently revolutionized the way in which modern medicine is practiced. Diseases and their symptoms are constantly changing therefore continuous updating is necessary for the data to be relevant. Diseases fall into different categories, even a small difference in symptoms may result in categorising it in a different group altogether. Thus analysing data accurately is of critical importance. This book concentrates on diagnosing diseases like cancer or tumor from different modalities of images. This book is divided into the following domains: Importance of big data in medical imaging, pre-processing, image registration, feature extraction, classification and retrieval. It is further supplemented by the medical analyst for a continuous treatment process. The book provides an automated system that could retrieve images based on user’s interest to a point of providing decision support. It will help medical analysts to take informed decisions before planning treatment and surgery. It will also be useful to researchers who are working in problems involved in medical imaging.