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Applications of Genetic and Genomic Research in Cereals

Applications of Genetic and Genomic Research in Cereals
  • Author : Thomas Miedaner,Viktor Korzun
  • Publisher :Unknown
  • Release Date :2018-11-19
  • Total pages :380
  • ISBN : 9780081022139
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Summary : Applications of Genetic and Genomic Research in Cereals covers new techniques for practical breeding, also discussing genetic and genomic approaches for improving special traits. Additional sections cover drought tolerance, biotic stress, biomass production, the impact of modern techniques on practical breeding, hybrid breeding, genetic diversity, and genomic selection. Written by an international team of top academics and edited by an expert in the field, this book will be of value to academics working in the agricultural sciences and essential reading for professionals working in plant breeding. Provides in-depth and comprehensive coverage of a rapidly developing field Presents techniques used in genetic and genomics research, with coverage of genotyping, gene cloning, genome editing and engineering and phenotyping in various cereals Includes the latest genetic and genomic approaches for improving special traits - drought tolerance, biotic stress and biomass production Covers breeding practices, with chapters on the genetic diversity of wheat, hybrid breeding and the potential of rye and barley crops

Clinical Genome Sequencing

Clinical Genome Sequencing
  • Author : Aad Tibben,Barbara B. Biesecker
  • Publisher :Unknown
  • Release Date :2019-03-30
  • Total pages :258
  • ISBN : 9780128133361
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Summary : 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

Rigor and Reproducibility in Genetics and Genomics

Rigor and Reproducibility in Genetics and Genomics
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2021-07-01
  • Total pages :472
  • ISBN : 9780128172193
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Summary : Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists. Provides practical approaches and step-by-step protocols to strengthen genetic and genomic research conducted in the lab or classroom Through illustrative case studies and training exercises, discusses common pitfalls and solutions for genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing, among other genetic and genomic approaches Specifically examines best practices for microarray analysis, DNA-seq, RNA-seq, gene expression validation, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
  • Author : Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
  • Publisher :Unknown
  • Release Date :2021-02-27
  • Total pages :436
  • ISBN : 9780128205204
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Summary : 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

Human Genetics and Genomics

Human Genetics and Genomics
  • Author : Bruce R. Korf,Mira B. Irons
  • Publisher :Unknown
  • Release Date :2012-11-19
  • Total pages :280
  • ISBN : 9781118537664
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Summary : 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.

Reaping the Benefits of Genomic and Proteomic Research

Reaping the Benefits of Genomic and Proteomic Research
  • Author : National Research Council,Policy and Global Affairs,Committee on Science, Technology, and Law,Board on Science, Technology, and Economic Policy,Committee on Intellectual Property Rights in Genomic and Protein Research and Innovation
  • Publisher :Unknown
  • Release Date :2006-03-09
  • Total pages :188
  • ISBN : 0309164885
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Summary : The patenting and licensing of human genetic material and proteins represents an extension of intellectual property (IP) rights to naturally occurring biological material and scientific information, much of it well upstream of drugs and other disease therapies. This report concludes that IP restrictions rarely impose significant burdens on biomedical research, but there are reasons to be apprehensive about their future impact on scientific advances in this area. The report recommends 13 actions that policy-makers, courts, universities, and health and patent officials should take to prevent the increasingly complex web of IP protections from getting in the way of potential breakthroughs in genomic and proteomic research. It endorses the National Institutes of Health guidelines for technology licensing, data sharing, and research material exchanges and says that oversight of compliance should be strengthened. It recommends enactment of a statutory exception from infringement liability for research on a patented invention and raising the bar somewhat to qualify for a patent on upstream research discoveries in biotechnology. With respect to genetic diagnostic tests to detect patient mutations associated with certain diseases, the report urges patent holders to allow others to perform the tests for purposes of verifying the results.

Human Genetics and Genomics, Includes Wiley E-Text

Human Genetics and Genomics, Includes Wiley E-Text
  • Author : Bruce R. Korf,Mira B. Irons, M.D.
  • Publisher :Unknown
  • Release Date :2013-02-11
  • Total pages :269
  • ISBN : 9780470654477
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Summary : This text 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.

Clinical Genomics

Clinical Genomics
  • Author : Shashikant Kulkarni,John Pfeifer
  • Publisher :Unknown
  • Release Date :2014-11-10
  • Total pages :488
  • ISBN : 9780124051737
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Summary : 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 Precision Medicine

Genomic and Precision Medicine
  • Author : Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
  • Publisher :Unknown
  • Release Date :2017-03-30
  • Total pages :370
  • ISBN : 9780128006542
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Summary : Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients

Understanding Disparities in Access to Genomic Medicine

Understanding Disparities in Access to Genomic Medicine
  • Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
  • Publisher :Unknown
  • Release Date :2019-01-28
  • Total pages :126
  • ISBN : 9780309485258
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Summary : Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches. On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop.

The Least Cost Path From Landscape Genetics to Landscape Genomics

The Least Cost Path From Landscape Genetics to Landscape Genomics
  • Author : Samuel A. Cushman,Andrew J. Shirk,Glenn T. Howe,Melanie A. Murphy,Rodney J. Dyer,Stéphane Joost
  • Publisher :Unknown
  • Release Date :2018-08-03
  • Total pages :229
  • ISBN : 9782889455485
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Summary : Ecosystems are the stage on which the play of evolution is acted, and ecosystems are complex, spatially structured and temporally varying. The purpose of this Research Topic is to explore critical challenges and opportunities for the transition from landscape genetics to landscape genomics. Landscape genetics has focused on the spatial analysis of small genetic datasets, typically comprised of less than 20 microsatellite markers, taken from clusters of individuals in putative populations or distributed individuals across landscapes. The recent emergence of large scale genomic datasets produced by next generation sequencing methods poses tremendous challenge and opportunity to the field. Perhaps the greatest is to produce, process, curate, archive and analyze spatially referenced genomic datasets in a way such that research is led by a priori hypotheses regarding how environmental heterogeneity and temporal dynamics interact to affect gene flow and selection. The papers in the Research Topic cover a broad range of topics under this area of focus, from reviews of the emergence of landscape genetics, to best practices in spatial analysis of genetic data. The compilation, like the emerging field itself, is eclectic and illustrates the scope of both the challenges and opportunities of this emerging field.

Responsible Genomic Data Sharing

Responsible Genomic Data Sharing
  • Author : Xiaoqian Jiang,Haixu Tang
  • Publisher :Unknown
  • Release Date :2020-03-14
  • Total pages :210
  • ISBN : 9780128163399
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Summary : Responsible Genomic Data Sharing: Challenges and Approaches brings together international experts in genomics research, bioinformatics and digital security who analyze common challenges in genomic data sharing, privacy preserving technologies, and best practices for large-scale genomic data sharing. Practical case studies, including the Global Alliance for Genomics and Health, the Beacon Network, and the Matchmaker Exchange, are discussed in-depth, illuminating pathways forward for new genomic data sharing efforts across research and clinical practice, industry and academia. Addresses privacy preserving technologies and how they can be applied to enable responsible genomic data sharing Employs illustrative case studies and analyzes emerging genomic data sharing efforts, common challenges and lessons learned Features chapter contributions from international experts in responsible approaches to genomic data sharing

UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE

UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2018
  • Total pages :105
  • ISBN : 0309485266
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Summary : "Genomic medicine is defined as the routine use of genomic information about an individual as part of his or her clinical care as well as the health outcomes and policy implications of that clinical use. It is one approach that has the potential to improve the quality of health care by allowing practitioners to tailor prevention, diagnostic, and treatment strategies to individual patients. In recent years, research breakthroughs, technological advances, and the decreasing cost of DNA sequencing have led to the wider adoption of genomic medicine. However, as with the introduction of new technologies into health care, there are concerns that genetic and genomic testing and services will not reach all segments of the population both now and in the near future, and there remains a gap in knowledge regarding potential health care disparities in genomic medicine and precision health approaches. On June 27, 2018, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to examine the gaps in knowledge related to access to genomic medicine and to discuss health care disparities and possible approaches to overcoming the disparate use of genomic medicine among populations. Workshop participants discussed research on access to genetics and genomics services in medically underserved areas, model programs of care for diverse patient populations, and current challenges and possible best practices for alleviating health care disparities as they relate to genomics-based approaches. This publication summarizes the presentations and discussions from the workshop"--Publisher's description.

Direct-to-Consumer Genetic Testing

Direct-to-Consumer Genetic Testing
  • Author : National Research Council,Institute of Medicine,Board on Health Care Services,National Cancer Policy Forum,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health,Forum on Drug Discovery, Development, and Translation,Division on Earth and Life Studies,Board on Life Sciences,Policy and Global Affairs,Committee on Science, Technology, and Law
  • Publisher :Unknown
  • Release Date :2011-01-16
  • Total pages :106
  • ISBN : 9780309162166
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Summary : Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.

The Gene Wars

The Gene Wars
  • Author : Robert M. Cook-Deegan
  • Publisher :Unknown
  • Release Date :1995
  • Total pages :416
  • ISBN : 0393313999
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Summary : Cook-Deegan, a former director of the Biomedical Ethics Advisory Committee of the US Congress and an advisor to the National Center for Human Genome Research, gives a firsthand account of the struggle to launch the Human Genome Project. Using primary documents and interviews, Cook-Deegan explains scientific details, chronicles the origins of the project, covers the conflicts and partnerships between the organizations involved, and examines ethical, legal, and social issues of DNA research. Includes bandw photos. Annotation copyright by Book News, Inc., Portland, OR

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Human Genome
  • Author : National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Mapping and Sequencing the Human Genome
  • Publisher :Unknown
  • Release Date :1988-01-01
  • Total pages :128
  • ISBN : 9780309038409
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Summary : There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

Practical Genomics for Clinical Ophthalmology

Practical Genomics for Clinical Ophthalmology
  • Author : Jane Ashworth,Graeme C.M. Black,Bart P. Leroy
  • Publisher :Unknown
  • Release Date :2019-08-15
  • Total pages :544
  • ISBN : 0128139447
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Summary : Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
  • Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
  • Publisher :Unknown
  • Release Date :2020-09-30
  • Total pages :790
  • ISBN : 9780128126837
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Summary : For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. 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, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Genomics-Enabled Learning Health Care Systems

Genomics-Enabled Learning Health Care Systems
  • Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
  • Publisher :Unknown
  • Release Date :2015-07-08
  • Total pages :116
  • ISBN : 9780309371155
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Summary : The inclusion of genomic data in a knowledge-generating health care system infrastructure is one promising way to harness the full potential of that information to provide better patient care. In such a system, clinical practice and research influence each other with the goal of improving the efficiency and effectiveness of disease prevention, diagnosis, and treatment. To examine pragmatic approaches to incorporating genomics in learning health care systems, the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health hosted a workshop which convened a variety of stakeholder groups, including commercial developers, health information technology professionals, clinical providers, academic researchers, patient groups, and government and health system representatives, to present their perspectives and participate in discussions on maximizing the value that can be obtained from genomic information. The workshop examined how a variety of systems are capturing and making use of genomic data to generate knowledge for advancing health care in the 21st century. It also sought to evaluate the challenges, opportunities, and best practices for capturing or using genomic information in knowledge-generating health care systems. Genomics-Enabled Learning Health Care Systems summarizes the presentations and discussion of the workshop.

Human Genome Informatics

Human Genome Informatics
  • Author : Christophe Lambert,Darrol Baker,George P. Patrinos
  • Publisher :Unknown
  • Release Date :2018-08-02
  • Total pages :314
  • ISBN : 9780128134313
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Summary : Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition

Lashley's Essentials of Clinical Genetics in Nursing Practice, Second Edition
  • Author : Christine E. Kasper, PhD, RN, FAAN, FACSM,Tonya A. Schneidereith, PhD, CRNP, PPCNP-BC, CPNP-AC,Felissa R. Lashley, PhD, RN, FABMGG
  • Publisher :Unknown
  • Release Date :2015-09-16
  • Total pages :425
  • ISBN : 9780826129130
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Summary : Completely updated to help nurses learn to ìthink geneticallyî Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels. New to the Second Edition: Completely updated with several new chapters Personal drug therapy based on genomics Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: Encompasses state-of-the-art genomics from a nursing perspective Provides a practical, clinically oriented lifespan approach Covers science, technology, and clinical application of genomics Addresses prevention, genetic testing, and treatment methods Written for undergraduate- and graduate-level nursing students