The Foundation of Precision Medicine: Integration of Electronic Health Records with Genomics Through Basic, Clinical, and Translational Research
The Foundation of Precision Medicine: Integration of Electronic Health Records with Genomics Through Basic, Clinical, and Translational Research

Author: Mariza de Andrade

Publisher: Frontiers Media SA

Published: 2016-06-30

Total Pages: 196

ISBN-13: 2889198723

DOWNLOAD EBOOK

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 Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research
The Foundation of Precision Medicine: Integration of Electronic Health Records with Nenomics Through Basic, Clinical, and Translational Research

Author:

Publisher:

Published: 2016

Total Pages: 0

ISBN-13:

DOWNLOAD EBOOK

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.

Encyclopedia of Information Science and Technology, Fifth Edition
Encyclopedia of Information Science and Technology, Fifth Edition

Author: Khosrow-Pour D.B.A., Mehdi

Publisher: IGI Global

Published: 2020-07-24

Total Pages: 1966

ISBN-13: 1799834808

DOWNLOAD EBOOK

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.

Multivariate Data Integration Using R
Multivariate Data Integration Using R

Author: Kim-Anh Lê Cao

Publisher: CRC Press

Published: 2021-11-08

Total Pages: 316

ISBN-13: 1000472191

DOWNLOAD EBOOK

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.

Integration of Omics Approaches and Systems Biology for Clinical Applications
Integration of Omics Approaches and Systems Biology for Clinical Applications

Author: Antonia Vlahou

Publisher: John Wiley & Sons

Published: 2018-01-24

Total Pages: 388

ISBN-13: 1119183979

DOWNLOAD EBOOK

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.

Precision Medicine and Artificial Intelligence
Precision Medicine and Artificial Intelligence

Author: Michael Mahler

Publisher: Academic Press

Published: 2021-03-12

Total Pages: 302

ISBN-13: 032385432X

DOWNLOAD EBOOK

Precision Medicine and Artificial Intelligence: The Perfect Fit for Autoimmunity covers background on artificial intelligence (AI), its link to precision medicine (PM), and examples of AI in healthcare, especially autoimmunity. The book highlights future perspectives and potential directions as AI has gained significant attention during the past decade. Autoimmune diseases are complex and heterogeneous conditions, but exciting new developments and implementation tactics surrounding automated systems have enabled the generation of large datasets, making autoimmunity an ideal target for AI and precision medicine. More and more diagnostic products utilize AI, which is also starting to be supported by regulatory agencies such as the Food and Drug Administration (FDA). Knowledge generation by leveraging large datasets including demographic, environmental, clinical and biomarker data has the potential to not only impact the diagnosis of patients, but also disease prediction, prognosis and treatment options. - Allows the readers to gain an overview on precision medicine for autoimmune diseases leveraging AI solutions - Provides background, milestone and examples of precision medicine - Outlines the paradigm shift towards precision medicine driven by value-based systems - Discusses future applications of precision medicine research using AI - Other aspects covered in the book include regulatory insights, data analytics and visualization, types of biomarkers as well as the role of the patient in precision medicine

The Computer-Based Patient Record
The Computer-Based Patient Record

Author: Committee on Improving the Patient Record

Publisher: National Academies Press

Published: 1997-10-28

Total Pages: 257

ISBN-13: 030957885X

DOWNLOAD EBOOK

Most industries have plunged into data automation, but health care organizations have lagged in moving patients' medical records from paper to computers. In its first edition, this book presented a blueprint for introducing the computer-based patient record (CPR). The revised edition adds new information to the original book. One section describes recent developments, including the creation of a computer-based patient record institute. An international chapter highlights what is new in this still-emerging technology. An expert committee explores the potential of machine-readable CPRs to improve diagnostic and care decisions, provide a database for policymaking, and much more, addressing these key questions: Who uses patient records? What technology is available and what further research is necessary to meet users' needs? What should government, medical organizations, and others do to make the transition to CPRs? The volume also explores such issues as privacy and confidentiality, costs, the need for training, legal barriers to CPRs, and other key topics.

Precision medicine: recent advances, current challenges and future perspectives
Precision medicine: recent advances, current challenges and future perspectives

Author: Oriana Awwad

Publisher: Frontiers Media SA

Published: 2024-06-18

Total Pages: 148

ISBN-13: 2832550428

DOWNLOAD EBOOK

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.

Toward Precision Medicine
Toward Precision Medicine

Author: National Research Council

Publisher: National Academies Press

Published: 2012-01-16

Total Pages: 142

ISBN-13: 0309222222

DOWNLOAD EBOOK

Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.

The CTSA Program at NIH
The CTSA Program at NIH

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2013-10-09

Total Pages: 179

ISBN-13: 0309284740

DOWNLOAD EBOOK

In 2006 the National Institutes of Health (NIH) established the Clinical and Translational Science Awards (CTSA) Program, recognizing the need for a new impetus to encourage clinical and translational research. At the time it was very difficult to translate basic and clinical research into clinical and community practice; making it difficult for individual patients and communities to receive its benefits. Since its creation the CTSA Program has expanded, with 61 sites spread across the nation's academic health centers and other institutions, hoping to provide catalysts and test beds for policies and practices that can benefit clinical and translation research organizations throughout the country. The NIH contracted with the Institute of Medicine (IOM) in 2012 to conduct a study to assess and provide recommendations on appropriateness of the CTSA Program's mission and strategic goals and whether changes were needed. The study was also address the implementation of the program by the National Center for Advancing Translational Sciences (NCATS) while exploring the CTSA's contributions in the acceleration of the development of new therapeutics. A 13-member committee was established to head this task; the committee had collective expertise in community outreach and engagement, public health and health policy, bioethics, education and training, pharmaceutical research and development, program evaluation, clinical and biomedical research, and child health research. The CTSA Program at NIH: Opportunities for Advancing Clinical and Translational Research is the result of investigations into previous program evaluations and assessments, open-session meetings and conference class, and the review of scientific literature. Overall, the committee believes that the CTSA Program is significant to the advancement of clinical and translational research through its contributions. The Program would benefit from a variety of revisions, however, to make it more efficient and effective.