Download or read book Mapping and Sequencing the Human Genome written by National Research Council and published by National Academies Press. This book was released on 1988-01-01 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book An Atlas of Human Genetics written by Jean Rostand and published by . This book was released on 1965 with total page 107 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Atlas of Human Chromosome Heteromorphisms written by H.E. Wyandt and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).
Download or read book Human Chromosome Atlas written by Claudia Behrend and published by Springer. This book was released on 2017-07-06 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.
Download or read book Atlas de G n tique Humaine An Atlas of Human Genetics Translated by Kennedy McWhirter With Illustrations written by Jean ROSTAND (and TÉTRY (Andrée)) and published by . This book was released on 1965 with total page 107 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Color Atlas of Genetics written by Eberhard Passarge and published by Thieme. This book was released on 2017-12-13 with total page 721 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Download or read book An Atlas of Human Genetics by Jean Rostand and Andr e T try written by Jean Rostand and published by . This book was released on 1965 with total page 107 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Color Atlas of Genetics written by Eberhard Passarge and published by Thieme. This book was released on 2012-12-12 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: From reviews of previous editions: A remarkable achievement concise but informativeNo geneticist or physician interested in genetic diseases should be without a copy -- American Journal of Medical Genetics Ever since the international Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genomewith far-reaching implications for understanding the causes and diagnosis of human genetic disordersprogress in the field has been rapid. In the fourth edition of the bestselling Color Atlas of Genetics, readers will get a full overview of the field today, with an emphasis on the interface between fundamental principles and practical applications in medicine. The book utilizes the signature Flexibook format designed for easy visual learning and retention, and is invaluable for students, clinicians, and scientists interested in keeping current in this fast-moving area. New topics in the fully revised fourth edition of this highly praised atlas: Genetic signaling pathways involved in genetic disorders DNA repair systems Genomic disorders and genome-wide association studies Cancer genomes Ciliopathies, neurocristopathies, and other groups of causally related disorders Epigenetic changes in certain disorders Illustrated outline of human evolution With almost 200 stunning color plates concisely explained on facing pages, and including useful tables of data, a glossary of terms, key references, and online resources, this book makes every concept clear and accessible. It is an excellent introduction to genetics and basic genomics for students of medicine and biology, as well as an ideal teaching aid and refresher for investigators in any field of medicine or science.
Download or read book Cancer Cytogenetics written by Sverre Heim and published by John Wiley & Sons. This book was released on 2015-06-29 with total page 645 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible
Download or read book Human Chromosome Variation Heteromorphism Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Download or read book Human Genetics written by Edwin H. McConkey and published by Jones & Bartlett Learning. This book was released on 1993 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Begins with molecular characterization of the human genome (rather than the conventional descriptions of Mendelian inheritance, pedigree analysis, and chromosome abnormalities), and maintains this emphasis on understanding human genetics in molecular terms throughout. Suitable as a text for biology
Download or read book Who We Are and How We Got Here written by David Reich and published by Oxford University Press. This book was released on 2018-03-29 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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?
Download or read book Mapping Human History written by Steve Olson and published by Bloomsbury Publishing. This book was released on 2002 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: Until just a few years ago, we knew surprisingly little about the 150,000 or so years of human existence before the advent of writing. Some of the most momentous events in our past - including our origins, our migrations across the globe, and our acquisition of language - were veiled in the uncertainty of 'prehistory'. That veil is being lifted at last by geneticists and other scientists. Mapping Human History is nothing less than an astonishing 'history of prehistory'. Steve Olson travelled through four continents to gather insights into the development of humans and our expansion throughout the world. He describes, for example, new thinking about how centres of agriculture sprang up among disparate foraging societies at roughly the same time. He tells why most of us can claim Julius Caesar and Confucius among our forebears. He pinpoints why the ways in which the story of the Jewish people jibes with, and diverges from, biblical accounts. And using very recent genetic findings, he explodes the myth that human races are a biological reality.
Download or read book Atlas of Mammalian Chromosomes written by Stephen J. O'Brien and published by John Wiley & Sons. This book was released on 2006-04-14 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: A stunning visual collection of the banded metaphase chromosomekaryotypes from some 850 species of mammals, the Atlas of MammalianChromosomes represents an unabridged compendium of the state ofthis genomic art form. Bringing together information currentlyscattered throughout the cytogenetics literature for scores ofpublished and unpublished species, this atlas features high-qualitykaryotype images for nearly every mammal studied to date, making itthe most comprehensive assemblage of high-resolution chromosomephotographs available--a critically invaluable resource for today'scomparative genomics era. For every available species, the Atlas of Mammalian Chromosomespresents the best karyotype produced, the common and Latin name ofthe species, the published citation, and the contributing authors.Most karyotypes are G-banded, revealing the chromosomal bar codesof homologous segments among related species. Addressing the mandate of the Human Genome Project to annotate thegenomes of other organisms as well, the Atlas of MammalianChromosomes offers a step forward in our understanding of speciesformation, of genome organization, and of DNA script for naturalselection. It is an invaluable resource for geneticists,mammalogists, and biologists interested in comparative genomics,systematics, and chromosome structure.
Download or read book Genetic Maps and Human Imaginations written by Barbara Katz Rothman and published by W. W. Norton & Company. This book was released on 1998 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: An expert in the field of social and biological ethics offers an analysis of the impact of scientists' ever-increasing knowledge of the genetic basis of life on family, society, and mortality.
Download or read book Color Atlas of Pharmacology written by Heinz Lüllmann and published by . This book was released on 2000 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt:
