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Genetic Variation and Human Disease by Kenneth M. Weiss Pdf
Recent developments in molecular and computational methods have made it possible to identify the genetic basis of any biological trait, and have led to spectacular advances in the study of human disease. This book provides an overview of the concepts and methods needed to understand the genetic basis of biological traits, including disease, in humans. Using examples of qualitative and quantitative phenotypes, Professor Weiss shows how genetic variation may be quantified, and how relationships between genotype and phenotype may be inferred. This book will appeal to many biologists and biological anthropologists interested in the genetic basis of biological traits, as well as to epidemiologists, biomedical scientists, human geneticists and molecular biologists.
Genetic Variation by Rafael Trindade Maia,Magnólia De Araújo Campos Pdf
Genetic diversity is one of the measures of biodiversity and has consequences in biological variation. It is crucial to understand the evolutionary and adaptative processes in all living species. This book is an interdisciplinary and integrated work that will contribute to the knowledge of academics from different areas of biological sciences. This collection of scientific papers was chosen and analyzed to offer readers a broad and integrated view of the importance of genetic diversity in the evolution and adaptation of living beings, as well as practical applications of the information needed to analyze this diversity in different organisms. This book was edited by geneticist researchers and provides academics with up-to-date and quality information on the subject.
Genetic Variation by Michael R. Barnes,Gerome Breen Pdf
“Your genome is an email attachment” What a difference a few years can make? In 2001, to a global fanfare, the completion of the frst draft sequence of the human genome was announced. This had been a Herculean effort, involving thousands of researchers and millions of dollars. Today, a project to re-sequence 1,000 genomes is well underway, and within a year or two, your own “personal genome” is likely to be available for a few thousand pounds, a price that will undoubtedly decrease further. We are fast approaching the day when your genome will be available as an email attachment (about 4 Mb). The key to this feat is the fact that any two human genomes are more than 99% identical, so rather than representing every base, there is really only a requirement to store the 1% of variable sequence judged against a common reference genome. This brings us directly to the focus of this edition of Methods in Molecular Biology, Genetic Variation. The human genome was once the focus of biology, but now individual genome var- tion is taking the center stage. This new focus on individual variation ultimately democ- tizes biology, offering individuals insight into their own phenotype. But these advances also raise huge concerns of data misuse, misinterpretation, and misunderstanding. The immediacy of individual genomes also serves to highlight our relative ignorance of human genetic variation, underlining the need for more studies of the nature and impact of genetic variation on human phenotypes.
Genetic Variation and Its Maintenance by Derek Frank Roberts,G. F. De Stefano Pdf
This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists.
National Research Council,Division on Earth and Life Studies,Commission on Life Sciences,Committee on Human Genome Diversity
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 : 42,5 Mb Release : 1998-01-19 Category : Science ISBN : 9780309184748
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.
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.
National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Care Services,Board on the Health of Select Populations,Committee on the Evidence Base for Genetic Testing
Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Care Services,Board on the Health of Select Populations,Committee on the Evidence Base for Genetic Testing Publisher : National Academies Press Page : 149 pages File Size : 42,5 Mb Release : 2017-04-21 Category : Medical ISBN : 9780309453295
An Evidence Framework for Genetic Testing by National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Care Services,Board on the Health of Select Populations,Committee on the Evidence Base for Genetic Testing Pdf
Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.
Genetic Variation by Michael P. Weiner,Stacey B. Gabriel,J. Claiborne Stephens Pdf
Genetic Variation: A Laboratory Manualis the first compendium of protocols specifically geared towards genetic variation studies, and includes thorough discussions on their applications for human and model organism studies. Intended for graduate students and professional scientists in clinical and research settings, it covers the complete spectrum of genetic variation—from SNPs and microsatellites to more complex DNA alterations, including copy number variation. Written and edited by leading scientists in the field, the early sections of the manual are devoted to study design and generating genotype data, the use of resources such as HapMap and dbSNP, as well as experimental, statistical, and bioinformatic approaches for analyzing the data. The final sections include descriptions of genetic variation in model organisms and discussions of recent insights into human genetic ancestry, forensics, and human variation.
In the Light of Evolution by National Academy of Sciences Pdf
The Arthur M. Sackler Colloquia of the National Academy of Sciences address scientific topics of broad and current interest, cutting across the boundaries of traditional disciplines. Each year, four or five such colloquia are scheduled, typically two days in length and international in scope. Colloquia are organized by a member of the Academy, often with the assistance of an organizing committee, and feature presentations by leading scientists in the field and discussions with a hundred or more researchers with an interest in the topic. Colloquia presentations are recorded and posted on the National Academy of Sciences Sackler colloquia website and published on CD-ROM. These Colloquia are made possible by a generous gift from Mrs. Jill Sackler, in memory of her husband, Arthur M. Sackler.
National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Applications of Toxicogenomic Technologies to Predictive Toxicology
Author : National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Applications of Toxicogenomic Technologies to Predictive Toxicology Publisher : National Academies Press Page : 300 pages File Size : 42,9 Mb Release : 2007-11-19 Category : Science ISBN : 9780309178891
Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment by National Research Council,Division on Earth and Life Studies,Board on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Applications of Toxicogenomic Technologies to Predictive Toxicology Pdf
The new field of toxicogenomics presents a potentially powerful set of tools to better understand the health effects of exposures to toxicants in the environment. At the request of the National Institute of Environmental Health Sciences, the National Research Council assembled a committee to identify the benefits of toxicogenomics, the challenges to achieving them, and potential approaches to overcoming such challenges. The report concludes that realizing the potential of toxicogenomics to improve public health decisions will require a concerted effort to generate data, make use of existing data, and study data in new waysâ€"an effort requiring funding, interagency coordination, and data management strategies.
Quantitative genetic variation by James N. Jr. Thompson Pdf
Quantitative Genetic Variation describes some of the experimental approaches to quantitative genetic variation, along with their potential applications and limitations. It considers one of the most widely applicable tools, i.e., biometrical analysis, as well as individual polygenic effects, specific components of a quantitative genetic trait, and artificial selection, and it shows how selection experiments can address specific developmental and genetic questions. Organized into four sections encompassing 17 chapters, this volume begins with a historical overview of the study of quantitative genetic variation, along with genetic variation in fungi and Drosophila. It then discusses the biometrical approach to quantitative variation, selection theory and analysis, uses and limitations of polygene mapping, and computer simulation of the breeding program for polygene location. The reader is also introduced to genes affecting quantitative aspects of physiology in rodents, as well as cytological markers and quantitative variation in wheat. This book will be extremely useful to students, researchers, and geneticists.
Analysis of Genetic Variation in Animals by Mahmut Caliskan Pdf
Analysis of Genetic Variation in Animals includes chapters revealing the magnitude of genetic variation existing in animal populations. The genetic diversity between and within populations displayed by molecular markers receive extensive interest due to the usefulness of this information in breeding and conservation programs. In this concept molecular markers give valuable information. The increasing availability of PCR-based molecular markers allows the detailed analyses and evaluation of genetic diversity in animals and also, the detection of genes influencing economically important traits. The purpose of the book is to provide a glimpse into the dynamic process of genetic variation in animals by presenting the thoughts of scientists who are engaged in the generation of new idea and techniques employed for the assessment of genetic diversity, often from very different perspectives. The book should prove useful to students, researchers, and experts in the area of conservation biology, genetic diversity, and molecular biology.
Author : Dennis H. O'Rourke Publisher : John Wiley & Sons Page : 496 pages File Size : 42,8 Mb Release : 2019-03-19 Category : Social Science ISBN : 9781118768990
A Companion to Anthropological Genetics by Dennis H. O'Rourke Pdf
Explore the latest research in anthropological genetics and understand the genome’s role in cultural and social development A Companion to Anthropological Genetics illustrates the role of genetic analysis in advancing the modern study of human origins, populations, evolution, and diversity. Broad in scope, this essential reference work establishes and explores the relationship between genetic research and the major questions of anthropological study. Through contributions by leading researchers, this collection explores molecular genetics and evolutionary mechanisms in the context of macro- and microevolution, paleontology, phylogeny, diet, and disease, with detailed explanations of quantitative methods, including coalescent and approximate Bayesian computation. With an emphasis on contextualizing new and developing genetic research within anthropological frameworks, this text offers critical perspective on the conditions of molecular evolution that accompany cultural and social transformation, while also addressing critical disciplinary questions, such as the ethical issues surrounding ancestry testing and community-based genetic research. Acts as an essential reference on the contributions of genetic science to the field of anthropology Features new work by leading researchers of the field Explores the evolution of immunity, including the genetics and epigenetics of pathogens, chronic illness, and disease resistance Provides in-depth examination of mutation and dietary adaptation, including AMY1, lactase persistence, and sensory polymorphisms Explains essential quantitative and phylogenetic methods for aligning genomic analysis with evolution and migration time scales Offering thorough coverage on leading questions and developing research, A Companion to Anthropological Genetics is a comprehensive resource for students and scholars.
Author : Michèle M. M. Mazzocco,Judith L. Ross Publisher : MIT Press Page : 525 pages File Size : 46,8 Mb Release : 2007 Category : Child ISBN : 9780262134804
Neurogenetic Developmental Disorders by Michèle M. M. Mazzocco,Judith L. Ross Pdf
Table of Contents: 1. Turner syndrome in childhood / Marsha L. Davenport, Stephen R. Hooper and Martha Zeger 2. Klinefelter syndrome / Judith L. Ross, Gerry A. Stefanatos and David Roeltgen 3. Fragile X syndrome : the journey from genes to behavior / Kimberly M. Cornish, Andrew Levitas and Vicki Sudhalter 4. Duchenne muscular dystrophy / Veronica J. Hinton and Edward M. Goldstein 5. Neurofibromatosis / John M. Slopis and Bartlett D. Moore III 6. Cognitive and behavioral characteristics of children with chromosome 22q11.2 deletion syndrome / Tony J. Simon, Merav Burg-Malki and Doron Gothelf 7. Williams Syndrome / Carolyn B. Mervis and Colleen A. Morris 8. Congenital hypothyroidism : genetic and biochemical influences on brain development and neuropsychological functioning / Joanne F. Rovet and Rosalind Brown 9. Inborn errors of metabolism / Kevin M. Antshel and Georgianne Arnold 10. Neurodevelopmental effects of childhood exposure to heavy metals : lessons from pediatric lead poisoning / Theodore I. Lidsky, Agnes T. Heaney, Jay S. Schneider and John F. Rosen 11. Beyond the diagnosis : the process of genetic counseling / Allyn McConkie-Rosell and Julianne O'Daniel 12. From diagnosis to adaptation : optimizing family and child functioning when a genetic diagnosis is associated with mental retardation / Laraine Masters Glidden and Sarah A. Schoolcraft 13. When a genetic disorder is associated with learning disabilities / Michele M. M. Mazzocco 14. Early intervention and early childhood special education for young children with neurogenetic disorders / Deborah D. Hatton 15. The individualized education program : navigating the IEP development process / Vicki Sudhalter.