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Best Practices In Genetic And Genomic Research

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Reaping the Benefits of Genomic and Proteomic Research

Reaping the Benefits of Genomic and Proteomic Research Book
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 : National Academies Press
Release : 2006-03-09
ISBN : 9780309164887
Language : En, Es, Fr & De

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Book Description :

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.

Understanding Disparities in Access to Genomic Medicine

Understanding Disparities in Access to Genomic Medicine Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publisher : National Academies Press
Release : 2018-12-28
ISBN : 0309485282
Language : En, Es, Fr & De

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Book Description :

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.

Rigor and Reproducibility in Genetics and Genomics

Rigor and Reproducibility in Genetics and Genomics Book
Author : Anonim
Publisher : Academic Press
Release : 2021-07-01
ISBN : 0128172193
Language : En, Es, Fr & De

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Book Description :

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 Genome Sequencing

Clinical Genome Sequencing Book
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release : 2019-03-30
ISBN : 0128133368
Language : En, Es, Fr & De

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Book Description :

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

Understanding Disparities in Access to Genomic Medicine

Understanding Disparities in Access to Genomic Medicine Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publisher : National Academies Press
Release : 2019-01-28
ISBN : 0309485258
Language : En, Es, Fr & De

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Book Description :

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.

UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE

UNDERSTANDING DISPARITIES IN ACCESS TO GENOMIC MEDICINE Book
Author : Anonim
Publisher : Unknown
Release : 2018
ISBN : 9780309485265
Language : En, Es, Fr & De

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Book Description :

"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.

Assessing Genetic Risks

Assessing Genetic Risks Book
Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Release : 1994-01-01
ISBN : 0309047986
Language : En, Es, Fr & De

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Book Description :

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing Book
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Care Services,Board on the Health of Select Populations,Committee on the Evidence Base for Genetic Testing
Publisher : National Academies Press
Release : 2017-04-21
ISBN : 0309453291
Language : En, Es, Fr & De

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Book Description :

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.

The Gene Wars

The Gene Wars Book
Author : Robert M. Cook-Deegan
Publisher : W. W. Norton & Company
Release : 1994
ISBN : 9780393035728
Language : En, Es, Fr & De

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Book Description :

A look at the controversial Human Genome Project recounts the struggle to launch the multi-billion-dollar, ten- to twenty-year project and relies on primary documents gathered as events unfolded to unravel the tangled scientific and political threads of the story.

Human Genetics and Genomics

Human Genetics and Genomics Book
Author : Bruce R. Korf,Mira B. Irons
Publisher : John Wiley & Sons
Release : 2012-11-19
ISBN : 1118537661
Language : En, Es, Fr & De

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Book Description :

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.

Genomics Enabled Learning Health Care Systems

Genomics Enabled Learning Health Care Systems Book
Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Release : 2015-07-08
ISBN : 0309371155
Language : En, Es, Fr & De

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Book Description :

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.

A Guide to Genetic Counseling

A Guide to Genetic Counseling Book
Author : Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar
Publisher : John Wiley & Sons
Release : 2011-09-20
ISBN : 1118210530
Language : En, Es, Fr & De

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Book Description :

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Release : 2014-10-15
ISBN : 019989602X
Language : En, Es, Fr & De

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Book Description :

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Computational Methods in Genome Research

Computational Methods in Genome Research Book
Author : International Symposium on Computational Methods in Genome Research (1992 : Heidelberg)
Publisher : Springer Science & Business Media
Release : 1994
ISBN : 9780306447129
Language : En, Es, Fr & De

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Book Description :

Can computational science keep up with evolving technology for genome mapping and sequencing?; Informatics and experiments for the human genome project; Data management tools for scientific applications: framework, status, and genomic applications; The ACEDB genome database; The integrated genomic database (IGD); Genetic mapping, an overview; Representing genomic maps in a relational database; Livermore's pragmatic approach to integrated mapping for chromosome 19; Searching protein sequence databases - is optimal best?; Algorithmic advances for searching biosequence databases; Pattern recognition in genomic and protein sequences: a survey of statistical validation problems; New algorithms for the computational of evolutionary phylogenetic trees; Modelling protein structure from remote sequence similarity: an approach to tertiary structure prediction; Genetic algorithms in protein structure prediction; Applications of artificial neural networks in genome research; Statistical models of chromosome evolution; Deciphering the genetic message: some thoughts onf present limits.

Safety of Genetically Engineered Foods

Safety of Genetically Engineered Foods Book
Author : National Research Council,Institute of Medicine,Board on Agriculture and Natural Resources,Food and Nutrition Board,Board on Life Sciences,Committee on Identifying and Assessing Unintended Effects of Genetically Engineered Foods on Human Health
Publisher : National Academies Press
Release : 2004-07-08
ISBN : 9780309166157
Language : En, Es, Fr & De

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Book Description :

Assists policymakers in evaluating the appropriate scientific methods for detecting unintended changes in food and assessing the potential for adverse health effects from genetically modified products. In this book, the committee recommended that greater scrutiny should be given to foods containing new compounds or unusual amounts of naturally occurring substances, regardless of the method used to create them. The book offers a framework to guide federal agencies in selecting the route of safety assessment. It identifies and recommends several pre- and post-market approaches to guide the assessment of unintended compositional changes that could result from genetically modified foods and research avenues to fill the knowledge gaps.

Applications of Genetic and Genomic Research in Cereals

Applications of Genetic and Genomic Research in Cereals Book
Author : Thomas Miedaner,Viktor Korzun
Publisher : Woodhead Publishing
Release : 2018-11-19
ISBN : 0081022131
Language : En, Es, Fr & De

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Book Description :

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 Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics Book
Author : Graeme C.M. Black,Jane L. Ashworth,Bart P. Leroy,Panagiotis I. Sergouniotis
Publisher : Elsevier
Release : 2022-01-20
ISBN : 0128139447
Language : En, Es, Fr & De

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Book Description :

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

Genetics genomics Nursing

Genetics genomics Nursing Book
Author : International Society of Nurses in Genetics,American Nurses Association
Publisher : Nursesbooks.org
Release : 2007
ISBN : 1558102345
Language : En, Es, Fr & De

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Book Description :

Download Genetics genomics Nursing book written by International Society of Nurses in Genetics,American Nurses Association, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetically Engineered Crops

Genetically Engineered Crops Book
Author : National Academies of Sciences, Engineering, and Medicine,Division on Earth and Life Studies,Board on Agriculture and Natural Resources,Committee on Genetically Engineered Crops: Past Experience and Future Prospects
Publisher : National Academies Press
Release : 2017-01-28
ISBN : 0309437385
Language : En, Es, Fr & De

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Book Description :

Genetically engineered (GE) crops were first introduced commercially in the 1990s. After two decades of production, some groups and individuals remain critical of the technology based on their concerns about possible adverse effects on human health, the environment, and ethical considerations. At the same time, others are concerned that the technology is not reaching its potential to improve human health and the environment because of stringent regulations and reduced public funding to develop products offering more benefits to society. While the debate about these and other questions related to the genetic engineering techniques of the first 20 years goes on, emerging genetic-engineering technologies are adding new complexities to the conversation. Genetically Engineered Crops builds on previous related Academies reports published between 1987 and 2010 by undertaking a retrospective examination of the purported positive and adverse effects of GE crops and to anticipate what emerging genetic-engineering technologies hold for the future. This report indicates where there are uncertainties about the economic, agronomic, health, safety, or other impacts of GE crops and food, and makes recommendations to fill gaps in safety assessments, increase regulatory clarity, and improve innovations in and access to GE technology.

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

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics Book
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release : 2021-11-02
ISBN : 0128152370
Language : En, Es, Fr & De

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Book Description :

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