Diagnostic Techniques In Genetics

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Diagnostic Techniques in Genetics

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Author : Jean-Louis Serre
Publisher : John Wiley & Sons
ISBN 13 : 0470870265
Total Pages : 270 pages
Book Rating : 4.4/5 (78 download)

Book Synopsis Diagnostic Techniques in Genetics by : Jean-Louis Serre

Download or read book Diagnostic Techniques in Genetics written by Jean-Louis Serre and published by John Wiley & Sons. This book was released on 2007-01-11 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent developments within molecular biology and genetic engineering have led to huge advances and changes within the biological sciences especially within the field of human genetics. Diagnostic Techniques in Genetics offers an important overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses. The first part of the book focuses on DNA/RNA applications and includes many of the latest developments in the field combined with routine procedures of genetic diagnoses, for example cloning and sequencing DNA. The DNA applications presented in the first chapter are then each applied to a specific kind of genetic diagnosis and the text concludes with a chapter devoted to population genetics. First published in French by Dunod in 2002, this book is an excellent reference for students taking courses in molecular biology, medicine and medical genetics. It is also a useful introduction for postgraduate students and researchers in the field who require a general overview of genetic diagnoses.

Diagnostic Genetic Testing

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Author : David Bourn
Publisher : Springer Nature
ISBN 13 : 3030855104
Total Pages : 145 pages
Book Rating : 4.0/5 (38 download)

Book Synopsis Diagnostic Genetic Testing by : David Bourn

Download or read book Diagnostic Genetic Testing written by David Bourn and published by Springer Nature. This book was released on 2021-11-13 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.

Molecular Diagnosis of Genetic Diseases

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Author : Rob Elles
Publisher : Springer Science & Business Media
ISBN 13 : 1592594328
Total Pages : 392 pages
Book Rating : 4.5/5 (925 download)

Book Synopsis Molecular Diagnosis of Genetic Diseases by : Rob Elles

Download or read book Molecular Diagnosis of Genetic Diseases written by Rob Elles and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Assessing Genetic Risks

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Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

An Evidence Framework for Genetic Testing

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Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Molecular Diagnostics

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Author : George P. Patrinos
Publisher : Academic Press
ISBN 13 : 0128029889
Total Pages : 520 pages
Book Rating : 4.1/5 (28 download)

Book Synopsis Molecular Diagnostics by : George P. Patrinos

Download or read book Molecular Diagnostics written by George P. Patrinos and published by Academic Press. This book was released on 2016-10-27 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Principles and Applications of Molecular Diagnostics

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Author : Nader Rifai
Publisher : Elsevier
ISBN 13 : 0128160624
Total Pages : 422 pages
Book Rating : 4.1/5 (281 download)

Book Synopsis Principles and Applications of Molecular Diagnostics by : Nader Rifai

Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks

Molecular Diagnostics

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Author : Wayne W. Grody
Publisher : Academic Press
ISBN 13 : 9780080919041
Total Pages : 736 pages
Book Rating : 4.9/5 (19 download)

Book Synopsis Molecular Diagnostics by : Wayne W. Grody

Download or read book Molecular Diagnostics written by Wayne W. Grody and published by Academic Press. This book was released on 2009-11-06 with total page 736 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. Serves as the definitivereference for molecular pathologists worldwide Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science

Diagnostic Molecular Biology

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Author : Chang-Hui Shen
Publisher : Elsevier
ISBN 13 : 0323986099
Total Pages : 590 pages
Book Rating : 4.3/5 (239 download)

Book Synopsis Diagnostic Molecular Biology by : Chang-Hui Shen

Download or read book Diagnostic Molecular Biology written by Chang-Hui Shen and published by Elsevier. This book was released on 2023-06-29 with total page 590 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostic Molecular Biology, Second Edition describes the fundamentals of molecular biology in a clear, concise manner with each technique explained within its conceptual framework and current applications of clinical laboratory techniques comprehensively covered. This targeted approach covers the principles of molecular biology, including basic knowledge of nucleic acids, proteins and chromosomes; the basic techniques and instrumentations commonly used in the field of molecular biology, including detailed procedures and explanations; and the applications of the principles and techniques currently employed in the clinical laboratory. Topics such as whole exome sequencing, whole genome sequencing, RNA-seq, and ChIP-seq round out the discussion. Fully updated, this new edition adds recent advances in the detection of respiratory virus infections in humans, like influenza, RSV, hAdV, hRV but also corona. This book expands the discussion on NGS application and its role in future precision medicine. Provides explanations on how techniques are used to diagnosis at the molecular level Explains how to use information technology to communicate and assess results in the lab Enhances our understanding of fundamental molecular biology and places techniques in context Places protocols into context with practical applications Includes extra chapters on respiratory viruses (Corona)

Genome-Based Diagnostics

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Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309253942
Total Pages : 104 pages
Book Rating : 4.3/5 (92 download)

Book Synopsis Genome-Based Diagnostics by : Institute of Medicine

Download or read book Genome-Based Diagnostics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-07-27 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Basic and Applied Aspects of Biotechnology

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Author : Varsha Gupta
Publisher : Springer
ISBN 13 : 9811008752
Total Pages : 527 pages
Book Rating : 4.8/5 (11 download)

Book Synopsis Basic and Applied Aspects of Biotechnology by : Varsha Gupta

Download or read book Basic and Applied Aspects of Biotechnology written by Varsha Gupta and published by Springer. This book was released on 2016-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book explores the journey of biotechnology, searching for new avenues and noting the impressive accomplishments to date. It has harmonious blend of facts, applications and new ideas. Fast-paced biotechnologies are broadly applied and are being continuously explored in areas like the environmental, industrial, agricultural and medical sciences. The sequencing of the human genome has opened new therapeutic opportunities and enriched the field of medical biotechnology while analysis of biomolecules using proteomics and microarray technologies along with the simultaneous discovery and development of new modes of detection are paving the way for ever-faster and more reliable diagnostic methods. Life-saving bio-pharmaceuticals are being churned out at an amazing rate, and the unraveling of biological processes has facilitated drug designing and discovery processes. Advances in regenerative medical technologies (stem cell therapy, tissue engineering, and gene therapy) look extremely promising, transcending the limitations of all existing fields and opening new dimensions for characterizing and combating diseases.

Understanding Gene Testing

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Author :
Publisher :
ISBN 13 :
Total Pages : 42 pages
Book Rating : 4.:/5 (327 download)

Book Synopsis Understanding Gene Testing by :

Download or read book Understanding Gene Testing written by and published by . This book was released on 1995 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine

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Author : Carlos Simón
Publisher : CRC Press
ISBN 13 : 1498763316
Total Pages : 272 pages
Book Rating : 4.4/5 (987 download)

Book Synopsis Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine by : Carlos Simón

Download or read book Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine written by Carlos Simón and published by CRC Press. This book was released on 2017-12-14 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to practice aiming to improve outcomes in the clinic and have a healthy baby at home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus.

Molecular Diagnostics

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Author : William B. Coleman
Publisher : Springer Science & Business Media
ISBN 13 : 1475725884
Total Pages : 387 pages
Book Rating : 4.4/5 (757 download)

Book Synopsis Molecular Diagnostics by : William B. Coleman

Download or read book Molecular Diagnostics written by William B. Coleman and published by Springer Science & Business Media. This book was released on 2013-04-18 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: Notable practitioners describe how laboratory medicine is practiced today and illuminate how it will function tomorrow as the revolutionary advances afforded by molecular diagnostics become increasingly central to effective analysis. Proceeding from a discussion of elementary nucleic acid technology to a review of the more advanced techniques, the distinguished contributors lay the groundwork for a comprehensive understanding of their applications throughout clinical medicine. The result is a detailed description of those molecular technologies currently used in diagnostic laboratories, as well as those that seem particularly promising. Detailed discussions of specific clinical applications include those for cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases.

Advances in Cell and Molecular Diagnostics

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Author : Pongali Raghavendra
Publisher : Academic Press
ISBN 13 : 0128136804
Total Pages : 298 pages
Book Rating : 4.1/5 (281 download)

Book Synopsis Advances in Cell and Molecular Diagnostics by : Pongali Raghavendra

Download or read book Advances in Cell and Molecular Diagnostics written by Pongali Raghavendra and published by Academic Press. This book was released on 2018-01-10 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Cell and Molecular Diagnostics brings the scientific advances in the translation and validation of cellular and molecular discoveries in medicine into the clinical diagnostic setting. It enumerates the description and application of technological advances in the field of cellular and molecular diagnostic medicine, providing an overview of specialized fields, such as biomarker, genetic marker, screening, DNA-profiling, NGS, cytogenetics, transcriptome, cancer biomarkers, prostate specific antigen, and biomarker toxicologies. In addition, it presents novel discoveries and clinical pathologic correlations, including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, and the description or polymorphisms linked to disease states. This book is a valuable resource for oncologists, practitioners and several members of the biomedical field who are interested in understanding how to apply cutting-edge technologies into diagnostics and healthcare. Encompasses the current scientific advances in the translation and validation of cellular and molecular discoveries into the clinical diagnostic setting Explains the application of cellular and molecular diagnostics methodologies in clinical trials Focuses on translating preclinical tests to the bedside in order to help readers apply the most recent technologies to healthcare

Techniques in Diagnostic Human Biochemical Genetics

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Author : Frits A. Hommes
Publisher : Wiley-Liss
ISBN 13 :
Total Pages : 674 pages
Book Rating : 4.3/5 (91 download)

Book Synopsis Techniques in Diagnostic Human Biochemical Genetics by : Frits A. Hommes

Download or read book Techniques in Diagnostic Human Biochemical Genetics written by Frits A. Hommes and published by Wiley-Liss. This book was released on 1991 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test.

Principles of Medical Genetics

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Author : Thomas D. Gelehrter
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780683034455
Total Pages : 444 pages
Book Rating : 4.0/5 (344 download)

Book Synopsis Principles of Medical Genetics by : Thomas D. Gelehrter

Download or read book Principles of Medical Genetics written by Thomas D. Gelehrter and published by Lippincott Williams & Wilkins. This book was released on 1998 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: