Current Topics In Human Genetics

Author : Hong-wen Deng,Hui Shen
Publisher : World Scientific
Page : 963 pages
File Size : 50,6 Mb
Release : 2007
Category : Medical
ISBN : 9789812704726

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Current Topics in Human Genetics by Hong-wen Deng,Hui Shen Pdf

The sequencing of the human genome has brought human genetics into a new era of study resulting in the generation of an explosive amount of information. Application of genomic, proteomic, and bioinformatics technologies to the study of human genetics has made it possible for human genetic diseases to be studied on an unprecedented scale, both in silico and in the wet lab. This volume provides up-to-date coverage of the broad range of research topics in this fascinating area. In the first part of the book, a whole spectrum of approaches to human genetics research is reviewed for both background and the latest progress. In the second, important topics related to genetic research of various complex human diseases are discussed. The robust content and diverse array of subjects allow the book to serve as both a concise ?encyclopedia? that introduces basic and essential concepts of human genetics and an in-depth review of the current understanding of genetic research in human diseases.

Author : Hong-wen Deng
Publisher : World Scientific
Page : 963 pages
File Size : 48,8 Mb
Release : 2007
Category : Medical
ISBN : 9789812790811

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Current Topics in Human Genetics by Hong-wen Deng Pdf

Analogies play a fundamental role in science. To understand how and why, at a given moment, a certain analogy was used, one has to know the specific, historical circumstances under which the new idea was developed. This historical background is never presented in scientific articles and quite rarely in books. For the general reader, the undergraduate or graduate student who learns the subject for the first time, but also for the practitioner who looks for inspiration or who wants to understand what his colleague working in another field does, these historical circumstances can be fascinating and useful. This book discusses a series of analogy effects in subatomic physics, the prediction and theory of which the author has contributed to in the last 50 years. These phenomena are presented at a level accessible to the non-specialist, without formulae but with emphasis on the personal and historical background: memoirs of meetings, discussions and correspondence with collaborators and colleagues. As such, besides its scientific aspects, the book constitutes an absorbing witness account of a holocaust survivor who subsequently illegally crossed the Iron Curtain to escape communist persecution.

Author : Bruce R. Korf,Mira B. Irons
Publisher : John Wiley & Sons
Page : 280 pages
File Size : 48,9 Mb
Release : 2012-11-19
Category : Medical
ISBN : 9781118537664

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Human Genetics and Genomics by Bruce R. Korf,Mira B. Irons Pdf

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.

Author : Bruce R. Korf,Mira B. Irons
Publisher : John Wiley & Sons
Page : 280 pages
File Size : 50,9 Mb
Release : 2013-02-11
Category : Medical
ISBN : 9780470654477

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Human Genetics and Genomics, Includes Wiley E-Text by Bruce R. Korf,Mira B. Irons Pdf

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.

Author : Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis
Publisher : Oxford University Press
Page : 701 pages
File Size : 40,7 Mb
Release : 2010-01-20
Category : Medical
ISBN : 9780195398441

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Human Genome Epidemiology, 2nd Edition by Muin Khoury,Sara Bedrosian,Marta Gwinn,Julian Higgins,John Ioannidis Pdf

This text describes the role that epidemiologic methods play in the continuum from gene discovery to the development and application of genetic tests. It provides a foundation that should help researchers, policy makers and practitioners integrate genomics into medical and public health practice.

Author : Shelly Cummings
Publisher : Arden Shakespeare
Page : 255 pages
File Size : 44,8 Mb
Release : 1996
Category : Genetics
ISBN : 0314075631

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Current Perspectives in Genetics by Shelly Cummings Pdf

Author : Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
Publisher : Lulu.com
Page : 104 pages
File Size : 47,7 Mb
Release : 2009
Category : Biology
ISBN : 9780982162217

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Understanding Genetics by Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services Pdf

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Author : L. Joseph Su,Tung-chin Chiang
Publisher : Springer
Page : 321 pages
File Size : 53,6 Mb
Release : 2015-05-18
Category : Medical
ISBN : 9781447166788

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Environmental Epigenetics by L. Joseph Su,Tung-chin Chiang Pdf

This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.

Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 54,8 Mb
Release : 1994-01-01
Category : Medical
ISBN : 9780309047982

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Assessing Genetic Risks by Institute of Medicine,Committee on Assessing Genetic Risks Pdf

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.

Author : National Research Council,Commission on Behavioral and Social Sciences and Education,Committee on Population
Publisher : National Academies Press
Page : 388 pages
File Size : 53,8 Mb
Release : 2001-01-19
Category : Social Science
ISBN : 9780309171434

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Cells and Surveys by National Research Council,Commission on Behavioral and Social Sciences and Education,Committee on Population Pdf

What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.

Author : Moyra Smith
Publisher : FT Press
Page : 243 pages
File Size : 41,6 Mb
Release : 2011-06-08
Category : Medical
ISBN : 9780132172844

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Investigating the Human Genome by Moyra Smith Pdf

Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.

Author : The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Publisher : National Academies Press
Page : 239 pages
File Size : 52,8 Mb
Release : 2021-01-16
Category : Medical
ISBN : 9780309671132

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Heritable Human Genome Editing by The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing Pdf

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.

Author : Thomas Liehr
Publisher : Academic Press
Page : 430 pages
File Size : 48,6 Mb
Release : 2021-05-25
Category : Science
ISBN : 9780128235805

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Cytogenomics by Thomas Liehr Pdf

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field

Author : National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Human Genome Diversity
Publisher : National Academies Press
Page : 101 pages
File Size : 42,6 Mb
Release : 1998-01-19
Category : Science
ISBN : 9780309184748

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Evaluating Human Genetic Diversity by National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Human Genome Diversity Pdf

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.

Author : Naruya Saitou
Publisher : Springer
Page : 0 pages
File Size : 40,9 Mb
Release : 2021-05-28
Category : Science
ISBN : 4431569022

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Evolution of the Human Genome II by Naruya Saitou Pdf

This two-volume set provides a general overview of the evolution of the human genome; The first volume overviews the human genome with descriptions of important gene groups. This second volume provides up-to-date, concise yet ample knowledge on the genome evolution of modern humans. It comprises twelve chapters divided into two parts discussing “Non-neutral Evolution on Human Genes” (Part I) and “Evolution of Modern Human Populations” (Part II.) The most significant feature of this book is the continent-wise discussion of modern human dispersal using human genomic data in Part II. Recent results such as introgression of paleogenomes to modern humans, new methods such as computer simulation of global human dispersals, and new information on genes for humanness will be of particular interest to the readers. Since the euchromatin regions of the human genome was sequenced in 2003, a huge number of research papers were published on modern human evolution for a variety of populations. It is now time to summarize these achievements. This book stands out as the most comprehensive book on the modern human evolution, focusing on genomic points of view with a broad scope. Primary target audiences are researchers and graduate students in evolutionary biology.