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Author: Rob Elles
Publisher: Springer Science & Business Media
ISBN: 1592594328
Category : Medical
Languages : en
Pages : 392
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Book Description
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.
Author: Rob Elles
Publisher: Springer Science & Business Media
ISBN: 1592594328
Category : Medical
Languages : en
Pages : 392
Get Book Here
Book Description
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.
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
Author: Nader Rifai
Publisher: Elsevier
ISBN: 0128160624
Category : Science
Languages : en
Pages : 424
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Book Description
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
Author: Mousumi Debnath
Publisher: Springer Science & Business Media
ISBN: 9048132614
Category : Medical
Languages : en
Pages : 527
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Book Description
A rapid development in diverse areas of molecular biology and genetic engineering resulted in emergence of variety of tools. These tools are not only applicable to basic researches being carried out world over, but also exploited for precise detection of abnormal conditions in plants, animals and human body. Although a basic researcher is well versed with few techniques used by him/her in the laboratory, they may not be well acquainted with methodologies, which can be used to work out some of their own research problems. The picture is more blurred when the molecular diagnostic tools are to be used by physicians, scientists and technicians working in diagnostic laboratories in hospitals, industry and academic institutions. Since many of them are not trained in basics of these methods, they come across several gray areas in understanding of these tools. The accurate application of molecular diagnostic tools demands in depth understanding of the methodology for precise detection of the abnormal condition of living body. To meet the requirements of a good book on molecular diagnostics of students, physicians, scientists working in agricultural, veterinary, medical and pharmaceutical sciences, it needs to expose the reader lucidly to: Give basic science behind commonly used tools in diagnostics Expose the readers to detailed applications of these tools and Make them aware the availability of such diagnostic tools The book will attract additional audience of pathologists, medical microbiologists, pharmaceutical sciences, agricultural scientists and veterinary doctors if the following topics are incorporated at appropriate places in Unit II or separately as a part of Unit-III in the book. Molecular diagnosis of diseases in agricultural crops Molecular diagnosis of veterinary diseases. Molecular epidemiology, which helps to differentiate various epidemic strains and sources of disease outbreaks. Even in different units of the same hospital, the infections could be by different strains of the same species and the information becomes valuable for infection control strategies. Drug resistance is a growing problem for bacterial, fungal and parasitic microbes and the molecular biology tools can help to detect the drug resistance genes without the cultivation and in vitro sensitivity testing. Molecular diagnostics offers faster help in the selection of the proper antibiotic for the treatment of tuberculosis, which is a major problem of the in the developing world. The conventional culture and drug sensitivity testing of tuberculosis bacilli is laborious and time consuming, whereas molecular diagnosis offers rapid drug resistant gene detection even from direct clinical samples. The same approach for HIV, malaria and many more diseases needs to be considered. Molecular diagnostics in the detection of diseases during foetal life is an upcoming area in the foetal medicine in case of genetic abnormalities and infectious like TORCH complex etc. The book will be equally useful to students, scientists and professionals working in the field of molecular diagnostics.
Author: Varsha Gupta
Publisher: Springer
ISBN: 9811008752
Category : Technology & Engineering
Languages : en
Pages : 543
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Book Description
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.
Author: William B. Coleman
Publisher: Springer Science & Business Media
ISBN: 1592599281
Category : Medical
Languages : en
Pages : 593
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Book Description
Accompanying CD-ROM contains ... "a companion eBook version of Molecular diagnostics : for the clinical laboratorian, Second edition ... for downloading and use in the reader's PC or PDA."--Page 4 of cover.
Author: William B. Coleman
Publisher: Academic Press
ISBN: 0128229934
Category : Science
Languages : en
Pages : 846
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Book Description
Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. - Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more - Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient - Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient - Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease
Author: Chang-Hui Shen
Publisher: Elsevier
ISBN: 0323986099
Category : Science
Languages : en
Pages : 590
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Book Description
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)
Author: P.B. Raghavendra
Publisher: Academic Press
ISBN: 0128136804
Category : Science
Languages : en
Pages : 300
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Book Description
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
Author: David E. Bruns
Publisher: Elsevier Health Sciences
ISBN: 1416037373
Category : Medical
Languages : en
Pages : 298
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Book Description
This book offers an introduction to the newest, fastest-growing field in laboratory science. Explaining and clarifying the molecular techniques used in diagnostic testing, this text provides both entry-level and advanced information. It covers the principles of molecular biology along with genomes and nucleic acid alterations, techniques and instrumentation, and applications of molecular diagnostics. Written by leading experts, including Patrick Bossuyt, Angela Caliendo, Rossa W.K. Chiu, Kojo S.J. Elenitoba-Johnson, Andrea Ferreira-Gonzalez, Amy Groszbach, Sultan Habeebu, Doris Haverstick, Malek Kamoun, Anthony Killeen, Noriko Kusukawa, Y.M. Dennis Lo, Elaine Lyon, Gwendolyn McMillin, Christopher Price, James Versalovic, Cindy Vnencak-Jones, Victor Weedn, Peter Wilding, Thomas Williams, and Carl Wittwer, this book includes illustrations, tables, and a colorful design to make information easy to find and easy to use. A full-color, 4-page insert shows realistic images of the output for many molecular tests. Learning Objectives open each chapter with an overview of what you should achieve. Key Words are listed and defined at the beginning of each chapter, and are bolded in the text. Review Questions at the end of every chapter let you measure your comprehension. Advanced Concepts are included, but set apart from the rest of the text, for students who want a higher level of learning. Ethics boxes address ethical issues, allowing you to apply your knowledge to real-life scenarios. A glossary of all key words may be easily accessed in the back of the book.
