Clinical Genomics
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Clinical Genomics
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Author : Shashikant Kulkarni
language : en
Publisher: Academic Press
Release Date : 2014-11-10
Clinical Genomics written by Shashikant Kulkarni and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-11-10 with Science categories.
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
Clinical Genomics Second Edition
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Author : Shashikant Kulkarni
language : en
Publisher: Academic Press
Release Date : 2023-03-01
Clinical Genomics Second Edition written by Shashikant Kulkarni and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-03-01 with Science categories.
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
Clinical Genomics Practical Applications For Adult Patient Care
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Author : Michael F. Murray (Physician)
language : en
Publisher: McGraw Hill Professional
Release Date : 2014
Clinical Genomics Practical Applications For Adult Patient Care written by Michael F. Murray (Physician) and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014 with Medical categories.
The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
Clinical Genome Sequencing
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Author : Aad Tibben
language : en
Publisher: Academic Press
Release Date : 2019-03-30
Clinical Genome Sequencing written by Aad Tibben and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-03-30 with Medical categories.
Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more
Essentials Of Medical Genomics
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Author : Stuart M. Brown
language : en
Publisher: John Wiley & Sons
Release Date : 2003-08-01
Essentials Of Medical Genomics written by Stuart M. Brown and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-08-01 with Science categories.
This introductory reference provides a practical, concise summary of everything a physician needs to know about genomics and emerging technologies. Through extensive illustrative examples, this book offers a clear and concise starting point to understanding how medicine has been, and will be, transformed by genomics and bioinformatics. Beginning with a clear overview on the Human Genome Project and its revolutionary impact, the book further investigates new technologies in detail, including: high-throughput DNA sequencing, genome sequence databases, microarrays, proteomics, pharmacogenomics, genetic testing, and gene therapy.
Essentials Of Medical Genomics
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Author : Stuart M. Brown
language : en
Publisher: John Wiley & Sons
Release Date : 2008-12-29
Essentials Of Medical Genomics written by Stuart M. Brown and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-12-29 with Medical categories.
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
New Clinical Genetics Fourth Edition
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Author : Andrew Read
language : en
Publisher: Scion Publishing Ltd
Release Date : 2020-10-23
New Clinical Genetics Fourth Edition written by Andrew Read and has been published by Scion Publishing Ltd this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-10-23 with Medical categories.
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem
Medical And Health Genomics
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Author : Dhavendra Kumar
language : en
Publisher: Academic Press
Release Date : 2016-06-04
Medical And Health Genomics written by Dhavendra Kumar and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-04 with Science categories.
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
Genomics And Clinical Medicine
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Author : Dhavendra Kumar
language : en
Publisher: Oxford University Press
Release Date : 2008-02-15
Genomics And Clinical Medicine written by Dhavendra Kumar and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-15 with Medical categories.
The completion of the Human Genome Project has been an important milestone in medicine. The identification of approximately 25,000 genes and their regulatory proteins provides the framework for understanding the molecular and metabolic basis of disease. This advance has laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication, and predication of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the book discusses a wide range of medical disorders and the applications now afforded by genomic analysis. It is now widely acknowledged that the information generated by genomics will provide major benefits for the prevention, diagnosis, and management of communicable and genetic diseases as well as other common complex medical disorders, such as cancer, cardiovascular disease, diabetes, and mental illness.
Oxford Desk Reference Clinical Genetics And Genomics
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Author : Helen V. Firth
language : en
Publisher: Oxford University Press
Release Date : 2017-09-13
Oxford Desk Reference Clinical Genetics And Genomics written by Helen V. Firth and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-13 with Medical categories.
A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.