Human Genomics: Principles and Clinical Practice

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Publisher : American Medical Publishers
ISBN 13 : 9781639272532
Total Pages : 249 pages
Book Rating : 4.2/5 (725 download)

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Book Synopsis Human Genomics: Principles and Clinical Practice by : Alyssa Boyle

Download or read book Human Genomics: Principles and Clinical Practice written by Alyssa Boyle and published by American Medical Publishers. This book was released on 2021-11-16 with total page 249 pages. Available in PDF, EPUB and Kindle. Book excerpt: The genetic material of an organism, including the DNA, is known as a genome. The interdisciplinary field of biology which focuses on the structure, function and evolution of genomes is known as genomics. It deals with the sequencing and analysis of genomes as well as the intragenomic phenomena that occur within the genomes such as epistasis, pleiotropy and heterosis. The study that particularly focuses on the applications of genomic analysis to all aspects of human health and disease is referred to as human genomics. The human genome is a complete set of nucleic acid sequence of humans. It is encoded as DNA in 23 pairs of chromosomes. These pairs are present in cell nuclei and inside a small DNA molecule within individual mitochondria. Human genomes include two forms of DNA genes, namely, protein-coding and non-coding DNA. This book provides comprehensive insights into the field of human genomics. It will also provide interesting topics for research which interested readers can take up. This book is meant for students who are looking for an elaborate reference text on human genomics.

Precision Medicine: A Guide to Genomics in Clinical Practice

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Publisher : McGraw Hill Professional
ISBN 13 : 1259644146
Total Pages : 230 pages
Book Rating : 4.2/5 (596 download)

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Book Synopsis Precision Medicine: A Guide to Genomics in Clinical Practice by : Jeanette J. McCarthy

Download or read book Precision Medicine: A Guide to Genomics in Clinical Practice written by Jeanette J. McCarthy and published by McGraw Hill Professional. This book was released on 2017-01-05 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genomic Medicine

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Publisher : Oxford Monographs on Medical G
ISBN 13 : 019989602X
Total Pages : 853 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Genomic Medicine by : Dhavendra Kumar

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

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Publisher : Academic Press
ISBN 13 : 0128152370
Total Pages : 320 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Human Genetics and Genomics, Includes Wiley E-Text

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 0470654473
Total Pages : 280 pages
Book Rating : 4.4/5 (76 download)

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Book Synopsis Human Genetics and Genomics, Includes Wiley E-Text by : Bruce R. Korf

Download or read book Human Genetics and Genomics, Includes Wiley E-Text written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2013-02-11 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Integrating Large-Scale Genomic Information into Clinical Practice

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Author :
Publisher : National Academies Press
ISBN 13 : 0309220343
Total Pages : 112 pages
Book Rating : 4.3/5 (92 download)

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Book Synopsis Integrating Large-Scale Genomic Information into Clinical Practice by : Institute of Medicine

Download or read book Integrating Large-Scale Genomic Information into Clinical Practice written by Institute of Medicine and published by National Academies Press. This book was released on 2012-03-06 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

Human Genetics and Genomics

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Author :
Publisher : Wiley-Blackwell
ISBN 13 : 9780632046560
Total Pages : 288 pages
Book Rating : 4.0/5 (465 download)

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Book Synopsis Human Genetics and Genomics by : Bruce R. Korf

Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by Wiley-Blackwell. This book was released on 2006-12-25 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Genetics and Genomics, Third Edition, is the new rendition of the classic textbook Human Genetics: A Problem-Based Approach. Thoroughly updated and restructured, this brand new edition uses both a classic didactic approach to teach basic genetic concepts and a problem-based approach to demonstrate the clinical applications of genetics in medical practice. By combining both these approaches, Human Genetics and Genomics is suitable both as a textbook for genetics courses, and as a bridge into the clinical environment. The third edition features greater emphasis on cutting edge technologies and the latest genetic issues, and a vast array of new pedagogy, such as: Clinical snapshots covering major genetic disorders Ethical Implications boxes discussing related ethical issues Key summary points at the beginning of each chapter and Q&As at the end of each chapter for self-assessment Hot topics covering new and emerging areas in genetics Recommended reading for each chapter A companion website at www.blackwellpublishing.com/korfgenetics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

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Author :
Publisher : Academic Press
ISBN 13 : 0128126825
Total Pages : 384 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2022-08-26 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. Fully addresses medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches and treatment methods Provides genetic researchers, students and health professionals with new and updated chapters on the genetic basis of, and treatment pathways for, red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions Includes color images supporting identification, concept illustration and method processing Features contributions by leading international researchers and practitioners of medical genetics Includes a robust companion website that offers lecture slides, image banks and links to outside resources and articles to help readers stay up-to-date on the latest developments in the field

Human Genome Editing

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Publisher : National Academies Press
ISBN 13 : 0309452880
Total Pages : 329 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis Human Genome Editing by : National Academies of Sciences, Engineering, and Medicine

Download or read book Human Genome Editing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-08-13 with total page 329 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Heritable Human Genome Editing

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Publisher : National Academies Press
ISBN 13 : 0309671132
Total Pages : 239 pages
Book Rating : 4.3/5 (96 download)

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Book Synopsis Heritable Human Genome Editing by : The Royal Society

Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

Genetics in Practice

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Publisher : John Wiley & Sons
ISBN 13 : 0470725257
Total Pages : 290 pages
Book Rating : 4.4/5 (77 download)

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Book Synopsis Genetics in Practice by : Jo Haydon

Download or read book Genetics in Practice written by Jo Haydon and published by John Wiley & Sons. This book was released on 2007-10-22 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nurses are increasingly being asked to provide information when a genetic diagnosis is made, whether to the individual patient or to members of his or her family. This book provides a comprehensive introduction to present day genetic services, to help professionals feel more confident when dealing with queries or advising where to go for further information. Comprehensive case studies are used to explain the various models of inheritance and explore the possibilities for families, following genetic diagnosis. Family history-taking, risk assessment, basic biology of chromosomes and genes, and laboratory techniques are all described. Issues of ethnicity and ethics are addressed. The book also discusses the development of the role of the genetic nurse counselor.

Essentials of Medical Genomics

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Publisher : John Wiley & Sons
ISBN 13 : 0470334495
Total Pages : 466 pages
Book Rating : 4.4/5 (73 download)

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Book Synopsis Essentials of Medical Genomics by : Stuart M. Brown

Download or read book Essentials of Medical Genomics written by Stuart M. Brown and published by John Wiley & Sons. This book was released on 2008-12-29 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Integrating Large-Scale Genomic Information Into Clinical Practice

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Author :
Publisher :
ISBN 13 : 9780309384988
Total Pages : 112 pages
Book Rating : 4.3/5 (849 download)

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Book Synopsis Integrating Large-Scale Genomic Information Into Clinical Practice by :

Download or read book Integrating Large-Scale Genomic Information Into Clinical Practice written by and published by . This book was released on 2012-02-06 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. "Integrating Large-Scale Genomic Information into Clinical Practice" summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

Emery and Rimoin's Principles and Practice of Medical Genetics

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Author :
Publisher :
ISBN 13 :
Total Pages : 1264 pages
Book Rating : 4.:/5 ( download)

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Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics by : David L. Rimoin

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics written by David L. Rimoin and published by . This book was released on 2007 with total page 1264 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Clinical Genomics

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Publisher : Academic Press
ISBN 13 : 0124051731
Total Pages : 489 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Clinical Genomics by : Shashikant Kulkarni

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 and Personalized Medicine

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Publisher : Academic Press
ISBN 13 : 0080919030
Total Pages : 669 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Genomic and Personalized Medicine by :

Download or read book Genomic and Personalized Medicine written by and published by Academic Press. This book was released on 2008-11-11 with total page 669 pages. Available in PDF, EPUB and Kindle. Book excerpt: This two-volume set — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine.Volume One Includes:Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care.Volume Two Includes:Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. - Highly Commended 2013 BMA Medical Book Award for Medicine - Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. - Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. - Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.

Medical Genetics

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Author :
Publisher : Oxford University Press
ISBN 13 : 0199594619
Total Pages : 317 pages
Book Rating : 4.1/5 (995 download)

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Book Synopsis Medical Genetics by : Ian D Young

Download or read book Medical Genetics written by Ian D Young and published by Oxford University Press. This book was released on 2010-09-02 with total page 317 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics provides medical and biomedical students with an understanding of the basic principles of human genetics as they relate to clinical practice, showing how our genome lies at the heart of our health and well-being.