Medical Genetics in Pediatric Practice

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Publisher :
ISBN 13 : 9781581104967
Total Pages : 0 pages
Book Rating : 4.1/5 (49 download)

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Book Synopsis Medical Genetics in Pediatric Practice by : American Academy of Pediatrics

Download or read book Medical Genetics in Pediatric Practice written by American Academy of Pediatrics and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more

Handbook of Clinical Adult Genetics and Genomics

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Publisher : Academic Press
ISBN 13 : 0128173459
Total Pages : 530 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar

Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

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

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Publisher : Academic Press
ISBN 13 : 0128126841
Total Pages : 414 pages
Book Rating : 4.1/5 (281 download)

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

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2018-11-20 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 detailed coverage in 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.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice - Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics

Genetics/genomics Nursing

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Publisher : Nursesbooks.org
ISBN 13 : 1558102345
Total Pages : 119 pages
Book Rating : 4.5/5 (581 download)

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Book Synopsis Genetics/genomics Nursing by : International Society of Nurses in Genetics

Download or read book Genetics/genomics Nursing written by International Society of Nurses in Genetics and published by Nursesbooks.org. This book was released on 2007 with total page 119 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Emery and Rimoin's Principles and Practice of Medical Genetics

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

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

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

Lashley's Essentials of Clinical Genetics in Nursing Practice

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Publisher : Springer Publishing Company
ISBN 13 : 0826129137
Total Pages : 531 pages
Book Rating : 4.8/5 (261 download)

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Book Synopsis Lashley's Essentials of Clinical Genetics in Nursing Practice by : Christine E. Kasper, PhD, RN, FAAN

Download or read book Lashley's Essentials of Clinical Genetics in Nursing Practice written by Christine E. Kasper, PhD, RN, FAAN and published by Springer Publishing Company. This book was released on 2015-09-16 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Handbook of Clinical Adult Genetics and Genomics

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Publisher : Academic Press
ISBN 13 : 9780128173442
Total Pages : 0 pages
Book Rating : 4.1/5 (734 download)

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Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar

Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-13 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more.

Assessing Genetic Risks

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Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Family Communication about Genetics

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Author :
Publisher :
ISBN 13 : 0195369823
Total Pages : 312 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Family Communication about Genetics by : Clara L. Gaff

Download or read book Family Communication about Genetics written by Clara L. Gaff and published by . This book was released on 2010 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics is in all senses a family affair. The diagnosis of a genetic condition affects not only the patient and biological family members who may themselves be at risk, but also "family" more generally as support may be sought from those considered kin and who may or may not be at risk themselves. It is considered best practice in genetic consultations to explore who will be informed within the family when a genetic condition or risk is diagnosed, particularly when the health of other family members is at risk. There is little guidance or consensus on how to achieve the implicit goal of informed family members while respecting patient confidentiality, however. There is a need for practitioners to be aware of the dynamics of family communication and to have guidance about how they may sensitively facilitate communication about genetics within families. This handbook facilitates the development of clinical practices relating to family communication about genetics. Relevant theories of family communication are summarized and related to a clinical genetics milieu and, from this, frameworks for practitioners are presented. A book of this nature is particularly timely as the completion of the Human Genome Project will result in an unprecedented amount of information about genetic constitution and health risks becoming available to individuals and their families. The presence of a potentially genetic condition in a family is not a new phenomenon. However, the growth in testing for genetic conditions, common complex conditions and variants that may influence health as well as drug metabolism means that a greater number of individuals will face decisions about communicating this information to their relatives. Many health professionals in all levels of health care will be confronted with issues of responsibility and practice in family communication about genetic information as they become providers of this testing.

Advanced Genetic Counseling

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Publisher : Oxford University Press, USA
ISBN 13 : 0190626429
Total Pages : 241 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Advanced Genetic Counseling by : Barbara B. Biesecker

Download or read book Advanced Genetic Counseling written by Barbara B. Biesecker and published by Oxford University Press, USA. This book was released on 2019 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: A CRITICAL NEW APPROACH FOR LEARNING AND THRIVING IN A FIELD OF CHANGE The scope and responsibilities of today's genetic counselors exceed the reasonable capacity of any one educational resource. While the field's first-year curriculum may be relatively fixed, the landscape of what comes after that -- a dizzying mix of practice, ethics, research design, and professional competencies -- is increasingly broad. Advanced Genetic Counseling offers an overdue extension of the field's core curriculum. From navigating ethical dilemmas and potential conflicts of interest to confronting the biases and patterns of thought that can limit counselors' interactions with clients, it prepares readers to face the profession's most challenging aspects with confidence. Drawing on techniques from psychotherapy, social psychology, and health behavior, Advanced Genetic Counseling is an essential resource for trainees and mid-career professionals. It offers a roadmap not just for addressing client needs, but for the future of genetic counseling education.

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

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

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

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: **Selected for Doody's Core Titles® 2024 in Clinical Genetics** 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

Genetics in Practice

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

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Book Synopsis Genetics in Practice by : Jo Haydon

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

Medical Genetics

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Publisher : McGraw Hill Professional
ISBN 13 : 0071819282
Total Pages : 385 pages
Book Rating : 4.0/5 (718 download)

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Book Synopsis Medical Genetics by : G. Bradley Schaefer

Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Medical Genetics

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Publisher :
ISBN 13 :
Total Pages : 392 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Medical Genetics by : Lynn B. Jorde

Download or read book Medical Genetics written by Lynn B. Jorde and published by . This book was released on 2006 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: 'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.

Genetics

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Publisher : Pearson
ISBN 13 :
Total Pages : 292 pages
Book Rating : 4.F/5 ( download)

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Book Synopsis Genetics by : Joseph P. Chinnici

Download or read book Genetics written by Joseph P. Chinnici and published by Pearson. This book was released on 1999 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics: Practice Problems and Solutions gives students the opportunity to apply their knowledge of core genetics principles and concepts. Designed to work well with any genetics text, it features more than 400 short answer and conceptual problems. The book also contains challenge problems and collaborative problems appropriate for groups. Solutions, many accompanied by detailed explanations of how the right answer was reached, are included.

Family Communication about Genetics

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Author :
Publisher : Oxford University Press
ISBN 13 : 0199708657
Total Pages : pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Family Communication about Genetics by : Clara L. Gaff

Download or read book Family Communication about Genetics written by Clara L. Gaff and published by Oxford University Press. This book was released on 2010-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics is in all senses a family affair. The diagnosis of a genetic condition affects not only the patient and biological family members who may themselves be at risk, but also "family" more generally as support may be sought from those considered kin and who may or may not be at risk themselves. It is considered best practice in genetic consultations to explore who will be informed within the family when a genetic condition or risk is diagnosed, particularly when the health of other family members is at risk. There is little guidance or consensus on how to achieve the implicit goal of informed family members while respecting patient confidentiality, however. There is a need for practitioners to be aware of the dynamics of family communication and to have guidance about how they may sensitively facilitate communication about genetics within families. This handbook facilitates the development of clinical practices relating to family communication about genetics. Relevant theories of family communication are summarized and related to a clinical genetics milieu and, from this, frameworks for practitioners are presented. A book of this nature is particularly timely as the completion of the Human Genome Project will result in an unprecedented amount of information about genetic constitution and health risks becoming available to individuals and their families. The presence of a potential genetic condition in a family is not a new phenomenon. However, the growth in testing for genetic conditions, common complex conditions and variants that may influence health as well as drug metabolism means that a greater number of individuals will face decisions about communicating this information to their relatives. Many health professionals in all levels of health care will be confronted with issues of responsibility and practice in family communication about genetic information as they become providers of this testing.

Evolutionary Genetics

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Publisher : Oxford University Press, USA
ISBN 13 : 0198830912
Total Pages : 327 pages
Book Rating : 4.1/5 (988 download)

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Book Synopsis Evolutionary Genetics by : Glenn-Peter Sætre

Download or read book Evolutionary Genetics written by Glenn-Peter Sætre and published by Oxford University Press, USA. This book was released on 2019-05 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: Evolutionary genetics is the study of how genetic variation leads to evolutionary change. With the recent explosion in the availability of whole genome sequence data, vast quantities of genetic data are being generated at an ever-increasing pace with the result that programming has become an essential tool for researchers. Most importantly, a thorough understanding of evolutionary principles is essential for making sense of this genetic data. This up-to-date textbook covers all the major components of modern evolutionary genetics, carefully explaining fundamental processes such as mutation, natural selection, genetic drift, and speciation, together with their consequences. The book also draws on a rich literature of exciting and inspiring examples to demonstrate the diversity of evolutionary research, including an emphasis on how evolution and selection has shaped our own species. Furthermore, at the end of each chapter, study questions are provided to motivate the reader to think and reflect on the concepts introduced. Practical experience is essential when it comes to developing an understanding of how to use genetic and genomic data to analyze and address interesting questions in the life sciences and how to interpret results in meaningful ways. In addition to the main text, a series of online tutorials using the R language serves as an introduction to programming, statistics, and the analysis of evolutionary genetic data. The R environment stands out as an ideal all-purpose, open source platform to handle and analyze such data. The book and its online materials take full advantage of the authors' own experience in working in a post-genomic revolution world, and introduce readers to the plethora of molecular and analytical methods that have only recently become available.