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Author: Michael R. Barnes Publisher: John Wiley & Sons ISBN: 047086219X Category : Science Languages : en Pages : 432
Book Description
This timely book illustrates the value of bioinformatics, not simply as a set of tools but rather as a science increasingly essential to navigate and manage the host of information generated by genomics and the availability of completely sequenced genomes. Bioinformatics can be used at all stages of genetics research: to improve study design, to assist in candidate gene identification, to aid data interpretation and management and to shed light on the molecular pathology of disease-causing mutations. Written specifically for geneticists, this book explains the relevance of bioinformatics showing how it may be used to enhance genetic data mining and markedly improve genetic analysis.
Author: Michael R. Barnes Publisher: John Wiley & Sons ISBN: 047086219X Category : Science Languages : en Pages : 432
Book Description
This timely book illustrates the value of bioinformatics, not simply as a set of tools but rather as a science increasingly essential to navigate and manage the host of information generated by genomics and the availability of completely sequenced genomes. Bioinformatics can be used at all stages of genetics research: to improve study design, to assist in candidate gene identification, to aid data interpretation and management and to shed light on the molecular pathology of disease-causing mutations. Written specifically for geneticists, this book explains the relevance of bioinformatics showing how it may be used to enhance genetic data mining and markedly improve genetic analysis.
Author: Nicholas Wade Publisher: Penguin ISBN: 0698163796 Category : Science Languages : en Pages : 249
Book Description
Drawing on startling new evidence from the mapping of the genome, an explosive new account of the genetic basis of race and its role in the human story Fewer ideas have been more toxic or harmful than the idea of the biological reality of race, and with it the idea that humans of different races are biologically different from one another. For this understandable reason, the idea has been banished from polite academic conversation. Arguing that race is more than just a social construct can get a scholar run out of town, or at least off campus, on a rail. Human evolution, the consensus view insists, ended in prehistory. Inconveniently, as Nicholas Wade argues in A Troublesome Inheritance, the consensus view cannot be right. And in fact, we know that populations have changed in the past few thousand years—to be lactose tolerant, for example, and to survive at high altitudes. Race is not a bright-line distinction; by definition it means that the more human populations are kept apart, the more they evolve their own distinct traits under the selective pressure known as Darwinian evolution. For many thousands of years, most human populations stayed where they were and grew distinct, not just in outward appearance but in deeper senses as well. Wade, the longtime journalist covering genetic advances for The New York Times, draws widely on the work of scientists who have made crucial breakthroughs in establishing the reality of recent human evolution. The most provocative claims in this book involve the genetic basis of human social habits. What we might call middle-class social traits—thrift, docility, nonviolence—have been slowly but surely inculcated genetically within agrarian societies, Wade argues. These “values” obviously had a strong cultural component, but Wade points to evidence that agrarian societies evolved away from hunter-gatherer societies in some crucial respects. Also controversial are his findings regarding the genetic basis of traits we associate with intelligence, such as literacy and numeracy, in certain ethnic populations, including the Chinese and Ashkenazi Jews. Wade believes deeply in the fundamental equality of all human peoples. He also believes that science is best served by pursuing the truth without fear, and if his mission to arrive at a coherent summa of what the new genetic science does and does not tell us about race and human history leads straight into a minefield, then so be it. This will not be the last word on the subject, but it will begin a powerful and overdue conversation.
Author: Robert C. Elston Publisher: John Wiley & Sons ISBN: 0470024917 Category : Medical Languages : en Pages : 384
Book Description
Anyone who attempts to read genetics or epidemiology research literature needs to understand the essentials of biostatistics. This book, a revised new edition of the successful Essentials of Biostatistics has been written to provide such an understanding to those who have little or no statistical background and who need to keep abreast of new findings in this fast moving field. Unlike many other elementary books on biostatistics, the main focus of this book is to explain basic concepts needed to understand statistical procedures. This Book: Surveys basic statistical methods used in the genetics and epidemiology literature, including maximum likelihood and least squares. Introduces methods, such as permutation testing and bootstrapping, that are becoming more widely used in both genetic and epidemiological research. Is illustrated throughout with simple examples to clarify the statistical methodology. Explains Bayes’ theorem pictorially. Features exercises, with answers to alternate questions, enabling use as a course text. Written at an elementary mathematical level so that readers with high school mathematics will find the content accessible. Graduate students studying genetic epidemiology, researchers and practitioners from genetics, epidemiology, biology, medical research and statistics will find this an invaluable introduction to statistics.
Author: Graeme C.M. Black Publisher: Elsevier ISBN: 0128139447 Category : Medical Languages : en Pages : 490
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
Author: Kathleen Downey Publisher: Elsevier ISBN: 1483100022 Category : Science Languages : en Pages : 636
Book Description
Advances in Gene Technology: Molecular Genetics of Plants and Animals contains the proceedings of the Miami Winter Symposium held in January 1983 in Miami, Florida. The papers explore advances in the molecular genetics of plants and animals and cover a wide range of topics such as genetic manipulation of plants; plant cell cultures, regeneration, and somatic cell fusion; and nitrogen fixation. Practical applications of gene technology with plants are also discussed. Comprised of 84 chapters, this volume begins with an overview of how plants manufacture from carbon dioxide and water all of their substances, paying particular attention to the path of carbon in photosynthesis. The organization of the plant genome is then considered, along with techniques for cell culture, regeneration, and somatic cell fusion; vector systems; and nitrogen fixation. Some chapters focus on gene transfer by protoplast fusion; somatic cell genetic systems in corn; regulation of transcription of the nitrogen fixation operons; and leghemoglobin and nodulin genes of soybean. The final section is devoted to practical applications of gene technology to plants and to technology frontiers in animal biology, in particular embryonic development and vaccines and diagnostic methods for animal diseases. This book should be of value to molecular geneticists.
Author: Thomas Liehr Publisher: Springer ISBN: 3642552889 Category : Medical Languages : en Pages : 201
Book Description
This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
Author: Rajesh V. Thakker Publisher: Academic Press ISBN: 0128041986 Category : Science Languages : en Pages : 880
Book Description
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Author: Niko Balkenhol Publisher: John Wiley & Sons ISBN: 1118525299 Category : Science Languages : en Pages : 298
Book Description
LANDSCAPE GENETICS: CONCEPTS, METHODS, APPLICATIONS LANDSCAPE GENETICS: CONCEPTS, METHODS, APPLICATIONS Edited by Niko Balkenhol, Samuel A. Cushman, Andrew T. Storfer, Lisette P. Waits Landscape genetics is an exciting and rapidly growing field, melding methods and theory from landscape ecology and population genetics to address some of the most challenging and urgent ecological and evolutionary topics of our time. Landscape genetic approaches now enable researchers to study in detail how environmental complexity in space and time affect gene flow, genetic drift, and local adaptation. However, learning about the concepts and methods underlying the field remains challenging due to the highly interdisciplinary nature of the field, which relies on topics that have traditionally been treated separately in classes and textbooks. In this edited volume, some of the leading experts in landscape genetics provide the first comprehensive introduction to underlying concepts, commonly used methods, and current and future applications of landscape genetics. Consistent with the interdisciplinary nature of the field, the book includes textbook-like chapters that synthesize fundamental concepts and methods underlying landscape genetics (Part 1), chapters on advanced topics that deserve a more in-depth treatment (Part 2), and chapters illustrating the use of concepts and methods in empirical applications (Part 3). Aimed at beginning landscape geneticists and experienced researchers alike, this book will be helpful for all scientists and practitioners interested in learning, teaching, and applying landscape genetics.
Author: Aaron Panofsky Publisher: University of Chicago Press ISBN: 022605859X Category : Science Languages : en Pages : 334
Book Description
Behavior genetics has always been a breeding ground for controversies. From the “criminal chromosome” to the “gay gene,” claims about the influence of genes like these have led to often vitriolic national debates about race, class, and inequality. Many behavior geneticists have encountered accusations of racism and have had their scientific authority and credibility questioned, ruining reputations, and threatening their access to coveted resources. In Misbehaving Science, Aaron Panofsky traces the field of behavior genetics back to its origins in the 1950s, telling the story through close looks at five major controversies. In the process, Panofsky argues that persistent, ungovernable controversy in behavior genetics is due to the broken hierarchies within the field. All authority and scientific norms are questioned, while the absence of unanimously accepted methods and theories leaves a foundationless field, where disorder is ongoing. Critics charge behavior geneticists with political motivations; champions say they merely follow the data where they lead. But Panofsky shows how pragmatic coping with repeated controversies drives their scientific actions. Ironically, behavior geneticists’ struggles for scientific authority and efforts to deal with the threats to their legitimacy and autonomy have made controversy inevitable—and in some ways essential—to the study of behavior genetics.
Author: David Reich Publisher: Oxford University Press ISBN: 0192554387 Category : Science Languages : en Pages : 400
Book Description
The past few years have seen a revolution in our ability to map whole genome DNA from ancient humans. With the ancient DNA revolution, combined with rapid genome mapping of present human populations, has come remarkable insights into our past. This important new data has clarified and added to our knowledge from archaeology and anthropology, helped resolve long-existing controversies, challenged long-held views, and thrown up some remarkable surprises. The emerging picture is one of many waves of ancient human migrations, so that all populations existing today are mixes of ancient ones, as well as in many cases carrying a genetic component from Neanderthals, and, in some populations, Denisovans. David Reich, whose team has been at the forefront of these discoveries, explains what the genetics is telling us about ourselves and our complex and often surprising ancestry. Gone are old ideas of any kind of racial 'purity', or even deep and ancient divides between peoples. Instead, we are finding a rich variety of mixtures. Reich describes the cutting-edge findings from the past few years, and also considers the sensitivities involved in tracing ancestry, with science sometimes jostling with politics and tradition. He brings an important wider message: that we should celebrate our rich diversity, and recognize that every one of us is the result of a long history of migration and intermixing of ancient peoples, which we carry as ghosts in our DNA. What will we discover next?
Author: Michael R. Barnes
Author: Michael R. Barnes
Author: Nicholas Wade
Author: Robert C. Elston
Author: Graeme C.M. Black
Author: Kathleen Downey
Author: Thomas Liehr
Author: Rajesh V. Thakker
Author: Niko Balkenhol
Author: Aaron Panofsky
Author: David Reich