Genomics And Clinical Diagnostics

Author : David Whitehouse,Ralph Rapley
Publisher : Royal Society of Chemistry
Page : 594 pages
File Size : 40,8 Mb
Release : 2019-01-29
Category : Science
ISBN : 9781788016803

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Genomics and Clinical Diagnostics by David Whitehouse,Ralph Rapley Pdf

Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Page : 853 pages
File Size : 43,6 Mb
Release : 2014-10-15
Category : Medical
ISBN : 9780199896028

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Genomic Medicine by Dhavendra Kumar,Charis Eng Pdf

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Author : Shashikant Kulkarni,Somak Roy
Publisher : Academic Press
Page : 489 pages
File Size : 47,9 Mb
Release : 2014-11-10
Category : Science
ISBN : 9780124051737

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Clinical Genomics by Shashikant Kulkarni,Somak Roy Pdf

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 104 pages
File Size : 44,8 Mb
Release : 2012-07-27
Category : Medical
ISBN : 9780309253949

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Genome-Based Diagnostics by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.

Author : George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Publisher : Academic Press
Page : 520 pages
File Size : 43,6 Mb
Release : 2016-10-27
Category : Medical
ISBN : 9780128029886

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Molecular Diagnostics by George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson Pdf

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

Author : Stuart M. Brown,John G. Hay,Harry Ostrer
Publisher : John Wiley & Sons
Page : 466 pages
File Size : 54,8 Mb
Release : 2008-12-29
Category : Medical
ISBN : 9780470334492

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Essentials of Medical Genomics by Stuart M. Brown,John G. Hay,Harry Ostrer Pdf

Six new chapters on vital topics of interest such as multilocus SNP genotyping (SNP chips), RNAi, ChIP-chip, and genomic tiling arrays New edition responds to reviewers' and users' desire for greater coverage—now the most useful handbook on the market! Practical, concise summary of everything about genomics and emerging technologies a busy physician or medical student should know Covers concepts and techniques that are in use in medicine now, as well as those on the cutting-edge of science relevant to medicine, from bioinformatics to DNA diagnostics and proteomics NEW: Includes chapter-end exercises, enhancing the utility of the new edition as a textbook NEW: PowerPoint slides of images available at instructor website

Author : Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute of Medicine,Center for Medical Technology Policy
Publisher : National Academies Press
Page : 0 pages
File Size : 43,9 Mb
Release : 2014-01-10
Category : Medical
ISBN : 0309269598

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Genome-Based Diagnostics by Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute of Medicine,Center for Medical Technology Policy Pdf

Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, policy makers, payers, diagnostic test developers, researchers, and guideline developers, to identify the challenges and opportunities in advancing the development and use of molecular diagnostic tests designed to guide the treatment and management of patients with cancer. The sequencing of the human genome has greatly accelerated the process of linking specific genetic variants with disease. These findings have yielded a rapidly increasing number of molecular diagnostic tests designed to guide disease treatment and management. Many of these tests are aimed at determining the best treatments for specific forms of cancer, making oncology a valuable testing ground for the use of molecular diagnostic tests in medicine in general. Nevertheless, many questions surround the clinical value of molecular diagnostic tests, and their acceptance by clinicians, payers, and patients has been unpredictable. A major limiting factor for the use of these tests has been the lack of clear evidence of clinical utility. Genome-Based Diagnostics assesses the evidentiary requirements for clinical utility of molecular diagnostics used to guide treatment decisions for patients with cancer; discusses methodologies related to demonstrating these evidentiary requirements that meet the needs of all stakeholders; and considers innovative, sustainable research collaborations for generating evidence of clinical utility involving multiple stakeholders.

Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Page : 358 pages
File Size : 54,6 Mb
Release : 2016-06-04
Category : Science
ISBN : 9780127999227

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Medical and Health Genomics by Dhavendra Kumar,Stylianos Antonarakis Pdf

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Page : 302 pages
File Size : 54,6 Mb
Release : 2013-05-31
Category : Medical
ISBN : 9781461470014

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Next Generation Sequencing by Lee-Jun C. Wong Pdf

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

Author : Shashikant Kulkarni,Somak Roy
Publisher : Academic Press
Page : 0 pages
File Size : 42,9 Mb
Release : 2023-03-01
Category : Science
ISBN : 9780323915632

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Clinical Genomics, Second Edition by Shashikant Kulkarni,Somak Roy Pdf

Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing. Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics. Simplifies the complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists Instructs in tested practice-based analysis for precision diagnosis and treatment plans, as well as pipelines and meta-analysis for a full range of clinically important variants Provides technical consideration for the validation and implementation of bioinformatics pipelines and related resources in the clinical molecular laboratory Addresses novel sequencing technologies, including long-read sequencing for detecting structural variants and haplotypes Covers cloud computing and Modern IT infrastructure (data storage, security, analytics) for scalable and secure genomics medicine

Author : Jacob Moran-Gilad,Yael Yagel
Publisher : Springer Nature
Page : 240 pages
File Size : 54,8 Mb
Release : 2021-05-24
Category : Science
ISBN : 9783030621551

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Application and Integration of Omics-powered Diagnostics in Clinical and Public Health Microbiology by Jacob Moran-Gilad,Yael Yagel Pdf

Various “omics” methods have recently revolutionized molecular diagnostics. Next-generation sequencing (NGS) makes it possible to sequence a human genome in just one day. Whole genome sequencing (WGS) greatly improves the ability to investigate the outbreaks of numerous pathogens. Metagenomics helps to analyze the microbiome, which aids greatly in identifying the pathogenesis of infectious diseases. Proteomic-based methods, namely matrix-assisted laser desorption-ionization time of flight mass spectrometry (MALDI-TOF-MS), have a promising role in identifying myctobacteria and fungi, and predicting antimicrobial resistance. While there are numerous scientific publications on “omics” applications for microbiology, there are relatively few books that review this topic from a clinical diagnostics perspective. This book looks at this field from a holistic viewpoint, instead of limiting by type of “omics” technology, in order to cover the body of knowledge needed for practitioners and academics interested in clinical and public health microbiology. Additionally, it addresses the management, economical, regulatory and operational aspects of integrating these technologies into routine diagnostics.

Author : George Patrinos,Catalina Lopez-Correa
Publisher : Academic Press
Page : 204 pages
File Size : 54,8 Mb
Release : 2018-06-29
Category : Science
ISBN : 9780128115510

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Genomic Medicine in Emerging Economies by George Patrinos,Catalina Lopez-Correa Pdf

Genomic Medicine in Resource-limited Countries: Genomics for Every Nation provides in-depth analysis and key examples of the implementation of medical genomics in low-income nations across the globe, demonstrating how this advancing medical science has not only transformed health systems, but also led to improved patient care in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, among others. In addition to defining tools, diagnostics and treatment pathways at the population-wide level for medical geneticists, genomic researchers and public health workers, this book offers a case-study based approach that helps users understand how genomic medicine is used in disease-management. Examines essential concepts and protocols, and economic, social and legal considerations related to the implementation of genomic medicine in resource-limited nations Features concrete success stories of the implementation of medical genomics in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, amongst others Provides tools, diagnostics and treatment pathways for medical geneticists, genomic researchers and public health workers to apply in their own work Establishes clear precedents on how genomic technologies can be accessed by nations with limited means and financial support for healthcare

Author : Anton A. Buzdin,Ira Ida Skvortsova,Xinmin Li,Ye Wang
Publisher : Frontiers Media SA
Page : 180 pages
File Size : 49,6 Mb
Release : 2021-03-09
Category : Science
ISBN : 9782889665754

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Next Generation Sequencing Based Diagnostic Approaches in Clinical Oncology by Anton A. Buzdin,Ira Ida Skvortsova,Xinmin Li,Ye Wang Pdf

Dr. Anton Buzdin (AB) is employed by Omicsway Corp. (USA). AB received grants from Amazon and Microsoft Azure to support cloud computations. Dr. Xinmin Li is director of JCCC Shared Genomics Resource, the University of California, Los Angeles, CA Dr. Ye Wang is Director of Gene testing Department (Core Lab) of Qingdao Central Hospital, the Second Affiliated Hospital of Qingdao University

Author : Dimitrios H. Roukos
Publisher : Unknown
Page : 128 pages
File Size : 52,5 Mb
Release : 2013-02-01
Category : Medical
ISBN : 1780841884

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Next-Generation Sequencing and Molecular Diagnostics by Dimitrios H. Roukos Pdf

Author : Anonim
Publisher : Academic Press
Page : 172 pages
File Size : 40,9 Mb
Release : 2023-04-19
Category : Medical
ISBN : 9780128133941

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Economic Evaluation in Genomic and Precision Medicine by Anonim Pdf

Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and precision medicine. Contributions from leading international medical geneticists and health economists compile new ways to effectively assess the costs and outcomes of different genomic care pathways, implement cost-effective medical interventions, and enhance the value of genomic and precision healthcare. Foundational chapters and discipline-specific case studies cover topics ranging from the economic analysis of genomic trial design, to health technology assessment of next-generation sequencing, ethical aspects, economic policy in genomic medicine, and pricing and reimbursement in clinical genomics. Introduces clinicians, researchers and students to essential concepts, protocols and applications of economic evaluation in genomic and precision medicine Demonstrates, through foundational chapters and discipline-specific case studies, how to assess the relative costs and outcomes of different genomic care pathways and implement cost-effective budgets Establishes clear precedents on how genomic technologies can be leveraged to simultaneously reduce costs and enhance the value of healthcare Features contributions from leading international medical geneticists and health economists that are actively evolved in economic assessments of genomic and precision medicine