Author: Daniel Edmund Newburger
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
The study of genomic variation within human populations is critical for elucidating the genetic factors that contribute to disease. Identifying and characterizing the genetic architecture of disease advances clinical care by facilitating the development of novel diagnostic tools, the identification of new therapeutic targets, and the practice of personalized treatment for genetic syndromes. The massive volume of genetic data generated by modern genotyping technologies, combined with the informatics challenges of filtering and interpreting these noisy measurements, represent significant obstacles to genomic research. These technical issues necessitate the development of computationally efficient methodologies that leverage raw genotype data for the comparative genomic analysis of complex phenotypes across human subpopulations. In this dissertation, I describe my contributions towards the biomedical study of genetic syndromes using high-throughput genotyping technologies. First, I discuss methods for studying the genome evolution of pre-malignant cancer lesions during progression to breast cancer. Second, I describe algorithms for performing highly accurate variant validation in genomic studies using next generation sequencing. Finally, I present methods for identifying novel disease susceptibility loci in complex diseases using identity by descent mapping in large case-control cohorts.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309101964
Category : Social Science
Languages : en
Pages : 385
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Book Description
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Author: Yusuke Nakamura
Publisher: Springer
ISBN: 4431557261
Category : Medical
Languages : en
Pages : 162
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Book Description
This book proposes immunogenomics, or immunopharmacogenomics, as the next-generation big science to uncover the role that the immune system plays in the pathogenesis of many diseases, by summarizing the importance of the deep sequencing of T-cell and B-cell receptors. Immunogenomics/immunopharmacogenomics, a genetic characterization of the immune system made possible by next-generation sequencing (NGS), will be important for the further understanding of the pathogenesis of various disease conditions. Abnormal immune responses in the body lead to development of autoimmune diseases and food allergies. Rejection of recipient cells and tissues, as well as severe immune reactions to donor cells, is also the result of uncontrolled immune responses in the recipient body. There have been many reports indicating that activated immune responses caused by the interaction of drugs and HLA are present in drug-induced skin hypersensitivity and liver toxicity. The importance of the host immune responses has been recognized in cancer treatments, not only for immunotherapy but also for cytotoxic agents and molecular targeted drugs. Hence, characterization of the T-cell receptor and B-cell receptor repertoire by means of NGS deep sequencing will ultimately make possible the identification of the molecular mechanisms that underlie various diseases and drug responses. In addition, this approach may contribute to the identification of antigens associated with the onset or progression of autoimmune diseases as well as food allergies. Although the germline alterations and somatic mutations have been extensively analyzed, changes or alterations of the immune responses during the course of various disease conditions or during various treatments have not been analyzed. It is also clear that computational analyses to draw meaningful inferences of functional recognition receptors on the immune cells remain a huge challenge.
Author: John D. Baxter
Publisher: Lippincott Raven
ISBN:
Category : Medical
Languages : en
Pages : 792
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Book Description
An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases.
Author: Albert Altchek
Publisher: Elsevier
ISBN: 008049451X
Category : Medical
Languages : en
Pages : 595
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Book Description
This updated second edition of Diagnosis and Management of Ovarian Disorders provides thorough, yet succinct insight into the ever-changing realm of ovarian disorders. It presents a novel multidisciplinary approach to the subject as described by clinicians, surgeons, pathologists, basic scientists and related medical researchers. Topics covered include reproductive technology, early diagnosis of ovarian cancer, and management of menopause among others. The breadth of information provided by this book will appeal to clinicians and researchers involved in the study and treatment of ovarian disorders. KEY FEATURES* Includes updated information on early diagnosis of ovarian cancer* Reviews new diagnostic techniques for ovarian disorders* Discusses latest information on reproductive technology* Presents translational treatment linking laboratory research with clinical medicine
Author: David J. Balding
Publisher: John Wiley & Sons
ISBN: 1119429250
Category : Science
Languages : en
Pages : 1828
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Book Description
A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.
Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 316
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Book Description
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Author: Raj S. Bhopal
Publisher: Oxford University Press
ISBN: 0198739680
Category : Medical
Languages : en
Pages : 481
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Book Description
First edition published in 2002. Second edition published in 2008.
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453291
Category : Medical
Languages : en
Pages : 149
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Book Description
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.
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309038405
Category : Science
Languages : en
Pages : 128
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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.
