Clinical Dna Variant Interpretation
DOWNLOAD
Download Clinical Dna Variant Interpretation PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Clinical Dna Variant Interpretation book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
Clinical Dna Variant Interpretation
DOWNLOAD
Author : Conxi Lázaro
language : en
Publisher: Academic Press
Release Date : 2021-02-27
Clinical Dna Variant Interpretation written by Conxi Lázaro and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-02-27 with Medical categories.
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
Handbook Of Statistical Genomics
DOWNLOAD
Author : David J. Balding
language : en
Publisher: John Wiley & Sons
Release Date : 2019-07-09
Handbook Of Statistical Genomics written by David J. Balding 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 2019-07-09 with Science categories.
A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.
Clinical Applications For Next Generation Sequencing
DOWNLOAD
Author : Urszula Demkow
language : en
Publisher: Academic Press
Release Date : 2015-09-10
Clinical Applications For Next Generation Sequencing written by Urszula Demkow and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-10 with Science categories.
Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies
New Clinical Genetics
DOWNLOAD
Author : Andrew P. Read
language : en
Publisher: Scion Publishing
Release Date : 2007
New Clinical Genetics written by Andrew P. Read and has been published by Scion Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007 with Medical categories.
"New Clinical Genetics" provides all those involved in medical genetics with a unique clinical guide based on post-genomic technologies. This first edition has been superseded by a new edition, launched October 2010.
Clinical Precision Medicine
DOWNLOAD
Author : Judy S. Crabtree
language : en
Publisher: Academic Press
Release Date : 2019-11-15
Clinical Precision Medicine written by Judy S. Crabtree and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-11-15 with Medical categories.
Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource
Precision Medicine In Practice Molecular Diagnosis Enabling Precision Therapies An Issue Of The Clinics In Laboratory Medicine
DOWNLOAD
Author : Ryan J. Schmidt
language : en
Publisher: Elsevier Health Sciences
Release Date : 2020-06-21
Precision Medicine In Practice Molecular Diagnosis Enabling Precision Therapies An Issue Of The Clinics In Laboratory Medicine written by Ryan J. Schmidt and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-21 with Medical categories.
This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.
An Evidence Framework For Genetic Testing
DOWNLOAD
Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2017-04-21
An Evidence Framework For Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-04-21 with Medical categories.
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.
Clinical Genomics
DOWNLOAD
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
Evolution Of Translational Omics
DOWNLOAD
Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2012-09-13
Evolution Of Translational Omics written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-13 with Science categories.
Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
Clinical Cardiogenetics
DOWNLOAD
Author : H.F. Baars
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-12-25
Clinical Cardiogenetics written by H.F. Baars and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-12-25 with Medical categories.
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?