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Human Genetics and Genomics

Author : Bruce R. Korf

Publisher : John Wiley & Sons

Page : 280 pages

File Size : 14,73 MB

Release : 2012-11-19

Category : Medical

ISBN : 1118537661

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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.



Human Genes and Genomes

Author : Leon E. Rosenberg

Publisher : Academic Press

Page : 447 pages

File Size : 36,54 MB

Release : 2012-05-21

Category : Science

ISBN : 0123852137

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Book Description

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor's office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. - Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease - Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more - Explores ethical, legal, regulatory and economic aspects of genomics in medicine - Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics



Mapping and Sequencing the Human Genome

Author : National Research Council

Publisher : National Academies Press

Page : 128 pages

File Size : 38,26 MB

Release : 1988-01-01

Category : Science

ISBN : 0309038405

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Book Description

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.



Evaluating Human Genetic Diversity

Author : National Research Council

Publisher : National Academies Press

Page : 101 pages

File Size : 29,72 MB

Release : 1998-01-19

Category : Science

ISBN : 0309184746

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Book Description

This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.



Heritable Human Genome Editing

Author : The Royal Society

Publisher : National Academies Press

Page : 239 pages

File Size : 24,20 MB

Release : 2021-01-16

Category : Medical

ISBN : 0309671132

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Book Description

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.



Human Genetics

Author : Bruce R. Korf

Publisher : Wiley-Blackwell

Page : 386 pages

File Size : 35,74 MB

Release : 2000-04-14

Category : Science

ISBN : 9780632044252

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Book Description

Human Genetics, the first genetics book to combine text with problem-based tutorial exercises, is the ideal textbook for student-driven learning. Each chapter focuses on a core concept of human genetics, illustrated by a corresponding clinical case that guides the reader through key principles in the text. Material from classic Mendelain genetics, molecular genetics, and quantitative genetics provides a context in which the role of genes in disease can be readily understood. Additionally, 300 illustrations clarify and reinforce discussions of genetic disorders. And, questions at the end of each chapter facilitate self-assessment.



Scientific Frontiers in Developmental Toxicology and Risk Assessment

Author : National Research Council

Publisher : National Academies Press

Page : 348 pages

File Size : 38,34 MB

Release : 2000-12-21

Category : Nature

ISBN : 0309070864

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Book Description

Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.



Curiosity Guides: The Human Genome

Author : John Quackenbush

Publisher : Charlesbridge

Page : 189 pages

File Size : 36,61 MB

Release : 2011-02-01

Category : Science

ISBN : 1607343568

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Book Description

The DNA sequence that comprises the human genome--the genetic blueprint found in each of our cells--is undoubtedly the greatest code ever to be broken. Completed at the dawn of a new millennium, the feat electrified both the scientific community and the general public with its tantalizing promise of new and better treatments for countless diseases, including Alzheimer's, cancer, diabetes, and Parkinson's. Yet what is arguably the most important discovery of our time has also opened a Pandora's box of questions about who we are as humans and how the unique information stored in our genomes can and might be used, making it all the more important for everyone to understand the new science of genomics. In the CURIOSITY GUIDE TO THE HUMAN GENOME, Dr. John Quackenbush, a renowned scientist and professor, conducts a fascinating tour of the history and science behind the Human Genome Project and the technologies that are revolutionizing the practice of medicine today. With a clear and engaging narrative style, he demystifies the fundamental principles of genetics and molecular biology, including the astounding ways in which genes function, alone or together with other genes and the environment, to either sustain life or trigger disease. In addition, Dr. Quackenbush goes beyond medicine to examine how DNA-sequencing technology is changing how we think of ourselves as a species by providing new insights about our earliest ancestors and reconfirming our inextricable link to all life on earth. Finally, he explores the legal and ethical questions surrounding such controversial topics as stem cell research, prenatal testing, forensics, and cloning, making this volume of the Curiosity Guides series an indispensable resource for navigating our brave new genomic world.



Genomics

Author : Charles R. Cantor

Publisher : John Wiley & Sons

Page : 621 pages

File Size : 42,95 MB

Release : 2004-01-06

Category : Science

ISBN : 0471461865

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Book Description

A unique exploration of the principles and methods underlying the Human Genome Project and modern molecular genetics and biotechnology-from two top researchers In Genomics, Charles R. Cantor, former director of the Human Genome Project, and Cassandra L. Smith give the first integral overview of the strategies and technologies behind the Human Genome Project and the field of molecular genetics and biotechnology. Written with a range of readers in mind-from chemists and biologists to computer scientists and engineers-the book begins with a review of the basic properties of DNA and the chromosomes that package it in cells. The authors describe the three main techniques used in DNA analysis-hybridization, polymerase chain reaction, and electrophoresis-and present a complete exploration of DNA mapping in its many different forms. By explaining both the theoretical principles and practical foundations of modern molecular genetics to a wide audience, the book brings the scientific community closer to the ultimate goal of understanding the biological function of DNA. Genomics features: * Topical organization within chapters for easy reference * A discussion of the developing methods of sequencing, such as sequencing by hybridization (SBH) in which data is read through words instead of letters * Detailed explanations and critical evaluations of the many different types of DNA maps that can be generated-including cytogenic and restriction maps as well as interspecies cell hybrids * Informed predictions for the future of DNA sequencing



Human Genome Structure, Function and Clinical Considerations

Author : Luciana Amaral Haddad

Publisher : Springer Nature

Page : 367 pages

File Size : 47,95 MB

Release : 2021-06-07

Category : Medical

ISBN : 3030731510

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Book Description

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.