Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics PDF Author: David Whitehouse
Publisher: Royal Society of Chemistry
ISBN: 1788016807
Category : Science
Languages : en
Pages : 594

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Book Description
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.

Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics PDF Author: David Whitehouse
Publisher: Royal Society of Chemistry
ISBN: 1788016807
Category : Science
Languages : en
Pages : 594

Get Book Here

Book Description
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.

Clinical Genomics

Clinical Genomics PDF Author: Shashikant Kulkarni
Publisher: Academic Press
ISBN: 0124051731
Category : Science
Languages : en
Pages : 489

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Book Description
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

Genomic Medicine

Genomic Medicine PDF Author: Dhavendra Kumar
Publisher:
ISBN: 019989602X
Category : Medical
Languages : en
Pages : 853

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Book Description
The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.

Medical and Health Genomics

Medical and Health Genomics PDF Author: Dhavendra Kumar
Publisher: Academic Press
ISBN: 0127999221
Category : Science
Languages : en
Pages : 360

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Book Description
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

Genome-Based Diagnostics

Genome-Based Diagnostics PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309253942
Category : Medical
Languages : en
Pages : 104

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Book Description
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.

Genomic and Personalized Medicine

Genomic and Personalized Medicine PDF Author: Geoffrey S. Ginsburg
Publisher: Academic Press
ISBN: 0123822270
Category : Science
Languages : en
Pages : 1343

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Book Description
Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Molecular Diagnostics

Molecular Diagnostics PDF Author: George P. Patrinos
Publisher: Academic Press
ISBN: 0128029889
Category : Medical
Languages : en
Pages : 526

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Book Description
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

Molecular Biology and Biotechnology

Molecular Biology and Biotechnology PDF Author: John M. Walker
Publisher:
ISBN: 9780851864532
Category : Biotechnology
Languages : en
Pages : 458

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Book Description
A study of recent developments in molecular biology and biotechnology, including enzyme technology, genetics and various applications, for example in fermentation technology, protein technology, genetic engineering and product recovery.

Genomics and Clinical Diagnostics

Genomics and Clinical Diagnostics PDF Author: David Whitehouse
Publisher: Royal Society of Chemistry
ISBN: 1782628215
Category : Medical
Languages : en
Pages : 594

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Book Description
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.

Precision Medicine: A Guide to Genomics in Clinical Practice

Precision Medicine: A Guide to Genomics in Clinical Practice PDF Author: Jeanette J. McCarthy
Publisher: McGraw Hill Professional
ISBN: 1259644146
Category : Medical
Languages : en
Pages : 230

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Book Description
Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Doody's Core Titles for 2021! Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage Organization allows healthcare providers to quickly and easily find the information relevant to their practice. The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practice belongs on your desk.