This eBook contains the 19 articles that were part of a Special Topic in Frontiers in Genetics entitled “Genetics Research in Electronic Health Records Linked to DNA Biobanks”. The Special Issue was published on-line in 2014-2015 and contained papers representing the diverse research ongoing in the integration of electronic health records (EHR) with genomics through basic, clinical, and translational research. We have divided the eBook into four Chapters. Chapter 1 describes the Electronic Medical Records and Genomics (eMERGE) network and its contri-bution to genomics. It highlights methodological questions related to large data sets such as imputation and population stratification. Chapter 2 describes the results of genetic studies on different diseases for which all the phenotypic information was extracted from the EHR with highly specific ePhenotyping algorithms. Chapter 3 focuses on more complex analyses of the genome including copy number variants (CNV), pleiotropy com-bined with phenome-wide association studies (PheWAS), and epistasis (gene-gene interactions). Chapter 4 discusses the use of genetic data together with EHR-derived clinical data in clinical settings, and how to return genetic results to patients and providers. It also contains a comprehensive review on genetic risk scores. We have included mostly Original Research Articles in the eBook, but also Reviews and Methods papers on the relevant topics of analyzing and integrating genomic data. The release of this eBook is timely, since several countries are launching Precision Medicine initiatives. Precision Medicine is a new concept in patient care taking into account individual variability in genetic, environmental and lifestyle factors, when treating diseases or trying to prevent them from developing. It has become an important focus for biomedical, clinical and translational informatics. The papers presented in this eBook are well positioned to educate the readers about Precision Medicine and to demonstrate the potential study designs, methods, strategies, and applications where this type of research can be performed successfully. The ultimate goal is to improve diagnostics and provide better, more targeted care to the patient.

Large biological data, which are often noisy and high-dimensional, have become increasingly prevalent in biology and medicine. There is a real need for good training in statistics, from data exploration through to analysis and interpretation. This book provides an overview of statistical and dimension reduction methods for high-throughput biological data, with a specific focus on data integration. It starts with some biological background, key concepts underlying the multivariate methods, and then covers an array of methods implemented using the mixOmics package in R. Features: Provides a broad and accessible overview of methods for multi-omics data integration Covers a wide range of multivariate methods, each designed to answer specific biological questions Includes comprehensive visualisation techniques to aid in data interpretation Includes many worked examples and case studies using real data Includes reproducible R code for each multivariate method, using the mixOmics package The book is suitable for researchers from a wide range of scientific disciplines wishing to apply these methods to obtain new and deeper insights into biological mechanisms and biomedical problems. The suite of tools introduced in this book will enable students and scientists to work at the interface between, and provide critical collaborative expertise to, biologists, bioinformaticians, statisticians and clinicians.

The rise of intelligence and computation within technology has created an eruption of potential applications in numerous professional industries. Techniques such as data analysis, cloud computing, machine learning, and others have altered the traditional processes of various disciplines including healthcare, economics, transportation, and politics. Information technology in today’s world is beginning to uncover opportunities for experts in these fields that they are not yet aware of. The exposure of specific instances in which these devices are being implemented will assist other specialists in how to successfully utilize these transformative tools with the appropriate amount of discretion, safety, and awareness. Considering the level of diverse uses and practices throughout the globe, the fifth edition of the Encyclopedia of Information Science and Technology series continues the enduring legacy set forth by its predecessors as a premier reference that contributes the most cutting-edge concepts and methodologies to the research community. The Encyclopedia of Information Science and Technology, Fifth Edition is a three-volume set that includes 136 original and previously unpublished research chapters that present multidisciplinary research and expert insights into new methods and processes for understanding modern technological tools and their applications as well as emerging theories and ethical controversies surrounding the field of information science. Highlighting a wide range of topics such as natural language processing, decision support systems, and electronic government, this book offers strategies for implementing smart devices and analytics into various professional disciplines. The techniques discussed in this publication are ideal for IT professionals, developers, computer scientists, practitioners, managers, policymakers, engineers, data analysts, and programmers seeking to understand the latest developments within this field and who are looking to apply new tools and policies in their practice. Additionally, academicians, researchers, and students in fields that include but are not limited to software engineering, cybersecurity, information technology, media and communications, urban planning, computer science, healthcare, economics, environmental science, data management, and political science will benefit from the extensive knowledge compiled within this publication.

Introduces readers to the state of the art of omics platforms and all aspects of omics approaches for clinical applications This book presents different high throughput omics platforms used to analyze tissue, plasma, and urine. The reader is introduced to state of the art analytical approaches (sample preparation and instrumentation) related to proteomics, peptidomics, transcriptomics, and metabolomics. In addition, the book highlights innovative approaches using bioinformatics, urine miRNAs, and MALDI tissue imaging in the context of clinical applications. Particular emphasis is put on integration of data generated from these different platforms in order to uncover the molecular landscape of diseases. The relevance of each approach to the clinical setting is explained and future applications for patient monitoring or treatment are discussed. Integration of omics Approaches and Systems Biology for Clinical Applications presents an overview of state of the art omics techniques. These methods are employed in order to obtain the comprehensive molecular profile of biological specimens. In addition, computational tools are used for organizing and integrating these multi-source data towards developing molecular models that reflect the pathophysiology of diseases. Investigation of chronic kidney disease (CKD) and bladder cancer are used as test cases. These represent multi-factorial, highly heterogeneous diseases, and are among the most significant health issues in developed countries with a rapidly aging population. The book presents novel insights on CKD and bladder cancer obtained by omics data integration as an example of the application of systems biology in the clinical setting. Describes a range of state of the art omics analytical platforms Covers all aspects of the systems biology approach—from sample preparation to data integration and bioinformatics analysis Contains specific examples of omics methods applied in the investigation of human diseases (Chronic Kidney Disease, Bladder Cancer) Integration of omics Approaches and Systems Biology for Clinical Applications will appeal to a wide spectrum of scientists including biologists, biotechnologists, biochemists, biophysicists, and bioinformaticians working on the different molecular platforms. It is also an excellent text for students interested in these fields.

This book constitutes the refereed conference proceedings of the Fourth International Conference on Big Data Analytics, BDA 2015, held in Hyderabad, India, in December 2015. The 9 revised full papers and 9 invited papers were carefully reviewed and selected from 61 submissions and cover topics on big data: security and privacy; big data in commerce; big data: models and algorithms; and big data in medicine.

This eBook contains the 19 articles that were part of a Special Topic in Frontiers in Genetics entitled "Genetics Research in Electronic Health Records Linked to DNA Biobanks". The Special Issue was published on-line in 2014-2015 and contained papers representing the diverse research ongoing in the integration of electronic health records (EHR) with genomics through basic, clinical, and translational research. We have divided the eBook into four Chapters. Chapter 1 describes the Electronic Medical Records and Genomics (eMERGE) network and its contri-bution to genomics. It highlights methodological questions related to large data sets such as imputation and population stratification. Chapter 2 describes the results of genetic studies on different diseases for which all the phenotypic information was extracted from the EHR with highly specific ePhenotyping algorithms. Chapter 3 focuses on more complex analyses of the genome including copy number variants (CNV), pleiotropy com-bined with phenome-wide association studies (PheWAS), and epistasis (gene-gene interactions). Chapter 4 discusses the use of genetic data together with EHR-derived clinical data in clinical settings, and how to return genetic results to patients and providers. It also contains a comprehensive review on genetic risk scores. We have included mostly Original Research Articles in the eBook, but also Reviews and Methods papers on the relevant topics of analyzing and integrating genomic data. The release of this eBook is timely, since several countries are launching Precision Medicine initiatives. Precision Medicine is a new concept in patient care taking into account individual variability in genetic, environmental and lifestyle factors, when treating diseases or trying to prevent them from developing. It has become an important focus for biomedical, clinical and translational informatics. The papers presented in this eBook are well positioned to educate the readers about Precision Medicine and to demonstrate the potential study designs, methods, strategies, and applications where this type of research can be performed successfully. The ultimate goal is to improve diagnostics and provide better, more targeted care to the patient.

The book provides complete information on the cornerstones of precision medicine through the omics approach. Clinical applications of genomics and precision medicine have progressed from a theoretical wish list to an impactful force in medical practice.Step-by-step descriptions are provided from basics to the future application and its benefit in clinical practice. Precision medicine aims to personalize health care by tailoring decisions and treatments to each individual in every possible way. Precision medicine includes pharmacogenomics. Essential information is provided on the role of precision medicine and pharmacogenomics in the clinical practice of cancer, cardiovascular disease, diabetes, psychiatric disease, and also the importance for healthcare professionals. This book will assist the practitioners how to integrate precision medicine and pharmacogenomics data into their clinical practice. It is hoped that physicians, pharmacists, and scientists with basic scientific knowledge of precision medicine will findthis book useful.

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. - Presents a comprehensive volume for primary care providers - Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine - Includes a current overview on major opportunities for genomic and personalized medicine in practice - Highlights case studies that illustrate the practical use of genomics in the management in patients

Personalized medicine (precision medicine) is an evolving field that comprises medical interventions tailored to individuals or groups of patients. It is designed to facilitate enhanced screening and earlier disease detection, more precise disease diagnosis, and improved treatment. Personalized medicine allows patients to receive specific therapies that work best for them aiming for more effective treatment, better outcomes, safer clinical managements and more efficient health systems.

The rapidly evolving field of Pharmacogenetics aims at identifying the genetic factors implicated in the inter-individual variation of drug response. These factors could enable patient sub-classification based on their treatment needs thus expediting drug development and promoting personalized, safer and more effective treatments. This book presents Pharmacogenetic examples from a broad spectrum of different drugs, for different diseases, which are representative of different stages of evaluation or application. It has been designed so as to serve both the unfamiliar reader through explanations of basic Pharmacogenetic concepts, the clinician with presentation of the latest developments and international guidelines, and the research scientist with examples of Pharmacogenetic applications, discussions on the limitations and an outlook on the new scientific trends in this field.