Exploring Genomes PDF Download

Author: Joel T. Dudley
Publisher: Oxford University Press
ISBN: 0199644489
Category : Medical
Languages : en
Pages : 265

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Book Description
Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to give unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we are born, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is therefore an important component of the inevitable transition towards personalized medicine, as the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine. However there is currently very little training available for medical practitioners. Exploring Personal Genomics provides a novel, inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, assessing rare variants and structural variation, and exploring resources for performing personal biological investigation. This advanced textbook is primarily aimed at undergraduate and graduate students taking classes in genomic medicine, genetics, and bioinformatics. It will also be of relevance and use to medical practitioners, evolutionary biologists, geneticists and individuals interested in exploring their personal genetic data.

Author: Paul Young
Publisher: Macmillan
ISBN: 9780716757382
Category : Computers
Languages : en
Pages : 68

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Book Description
Used in conjunction with the online tutorials found at www.whfreeman.com/young, Exploring Genomes guides students through live searches and analyses on the most commonly used National Center for Biotechnology Information (NCBI) database.

Author: Paul G. Young
Publisher: Macmillan
ISBN: 9781429201780
Category : Science
Languages : en
Pages : 84

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Book Description
These interactive tutorials are used in conjunction with the online tutorials found at www.whfreeman.com/young, to guide students through live searches and analyses on the National Center for Biotechnology Information (NCBI) database. This edition includes three new tutorials on the COGs database, functional analysis, and environmental genomics.

Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309673038
Category : Medical
Languages : en
Pages : 113

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Book Description
Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care. To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.

Author: Paul G. Young
Publisher: W. H. Freeman
ISBN: 9780716799283
Category : Science
Languages : en
Pages : 51

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Book Description

Author: Maxine Singer
Publisher: University Science Books
ISBN: 9780935702705
Category : Medical
Languages : en
Pages : 702

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Book Description
An outstanding group of scientists have collaborated in the collection of case studies that comprise this major text-reference book. It examines in detail how genes operate in diverse living systems, including viruses, cells and more complex organisms; investigates how genotypes can be altered; and looks at the mapping and sequencing of human and other genomes. Students and professionals in biochemistry, molecular biology and genetics will enjoy this book.

Author: A. Malcolm Campbell
Publisher: Benjamin-Cummings Publishing Company
ISBN:
Category : Computers
Languages : en
Pages : 468

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Book Description
Discovering Genomics is the first genomics text that combines web activities and case studies with a problem-solving approach to teach upper-level undergraduates and first-year graduate students the fundamentals of genomic analysis. More of a workbook than a traditional text, Discovering Genomics, Second Edition allows students to work with real genomic data in solving problems and provides the user with an active learning experience. The companion website at www.aw-bc.com/geneticsplace is regularly updated to keep up with changes to online databases. The Second Edition has been thoroughly revised and updated to incorporate the latest scientific findings on popular topics such as disease-causing organisms and genetic defects. Case study chapters have been placed throughout the book to tie real-life scenarios into the concepts that follow. Two of the book's key pedagogical features, Discovery Questions and Math Minutes, have also been updated and expanded. The interactive companion website has been reprogrammed with JMOL, the latest 3-D software used to view DNA structures.

Author: National Research Council
Publisher: National Academies Press
ISBN: 0309169127
Category : Science
Languages : en
Pages : 108

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Book Description
Recognizing the important contributions that genomic analysis can make to agriculture, production and companion animal science, evolutionary biology, and human health with respect to the creation of models for genetic disorders, the National Academies convened a group of individuals to plan a public workshop that would: (1) assess these contributions; (2) identify potential research directions for existing genomics programs; and (3) highlight the opportunities of a coordinated, multi-species genomics effort for the science and policymaking communities. Their efforts culminated in a workshop sponsored by the U.S. Department of Agriculture, Department of Energy, National Science Foundation, and the National Institutes of Health. The workshop was convened on February 19, 2002. The goal of the workshop was to focus on domestic animal genomics and its integration with other genomics and functional genomics projects.

Author: Moyra Smith M.D., Ph.D., MFA
Publisher: Oxford University Press
ISBN: 0199702047
Category : Medical
Languages : en
Pages : 253

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Book Description
During the past two decades international collaborative studies have yielded extensive information on genome sequences, genome architecture and their variations. The challenge we now face is to understand how these variations impact structure and function of organelles, physiological systems and phenotype. The goal of this book is to present steps in the pathways of exploration to connect genotype to phenotype and to consider how alterations in genomes impact disease. In this book the author reviews published research in functional genomics carried out primarily since 2006 that sheds light on aspects of phenotypic variation. The goal of functional genomics is to gain insight into mechanisms through which specific changes in genome transcripts and regulation induce changes in proteins, pathways, organelles, cellular and tissue functions, morphology and ultimately in phenotype. Topics reviewed include investigations in genome architecture, gene structure, gene regulation epigenetic modifications and function of organelles including mitochondria, and the endosome lysosome system. New insights into neurodevelopment and neurobehavioral disorders gained through functional genomic research are presented. Aspects of genomic studies in complex common diseases are reviewed. Molecular genetic variations and aberrations in cellular mechanisms involved in protein quality surveillance play a role in late onset diseases and one chapter deals with this topic. Molecular analyses of genes and proteins continue to shed light on the pathogenesis of malformation syndromes and specific examples of such studies are presented. There is growing evidence that late onset disorders such as Parkinson disease, are frequently the end result of defects in functioning of components in different pathways and examples of these are discussed. There is evidence that genetic variation determines differences in response to environmental insults. Genetic variations in complement factor genes are an example of this and are discussed in the context of macular degeneration and pathogenesis of hemolytic uremic syndrome in response exposure to E coli Shiga toxin. In the final chapter the author briefly summarizes key features of the cascade of events that constitute functional genomics.

Author: Paul L. Bartel
Publisher: Oxford University Press, USA
ISBN: 9780195109382
Category : Carrier proteins
Languages : en
Pages : 362

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Book Description
This volume, part of the Advances in Molecular Biology series, presents work by pioneers in the field and is the first publication devoted solely to the yeast two-hybrid system. It includes detailed protocols, practical advice on troubleshooting, and suggestions for future development. In addition, it illustrates how to construct an activation domain hybrid library, how to identify mutations that disrupt an interaction, and how to use the system in mammalian cells. Many of the contributors have developed new applications and variations of the technique.