Author: Xiaoyi Raymond Gao
Publisher: Academic Press
ISBN: 0128167270
Category : Science
Languages : en
Pages : 386
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Book Description
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
Author: Leon E. Rosenberg
Publisher: Academic Press
ISBN: 0123852137
Category : Science
Languages : en
Pages : 447
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Book Description
In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor's office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. - Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease - Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more - Explores ethical, legal, regulatory and economic aspects of genomics in medicine - Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics
Author: Graeme C.M. Black
Publisher: Elsevier
ISBN: 0128139447
Category : Medical
Languages : en
Pages : 490
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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: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
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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: Qifa Zhang
Publisher: Springer Science & Business Media
ISBN: 1461479037
Category : Science
Languages : en
Pages : 406
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Book Description
This book provides a comprehensive coverage of the advances in genetics and genomics research on rice. The chapters feature the latest developments in rice research and cover such topics as the tools and resources for the functional analysis of rice genes, the identification of useful genes for rice improvement, the present understanding of rice development and biological processes, and the application of this present understanding towards rice improvement. The volume also features a perspective on synthesis and prospects, laying the groundwork for future advances in rice genetics and genomics. Written by authorities in the field, Genetics and Genomics of Rice will serve as an invaluable reference for rice researchers for years to come.
Author: R.S. Verma
Publisher: Elsevier
ISBN: 0080526152
Category : Science
Languages : en
Pages : 281
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Book Description
The laws of inheritance were considered quite superficial until 1903, when the chromosome theory of heredity was established by Sutton and Boveri. The discovery of the double helix and the genetic code led to our understanding of gene structure and function. For the past quarter of a century, remarkable progress has been made in the characterization of the human genome in order to search for coherent views of genes. The unit of inheritance termed factor or gene, once upon a time thought to be a trivial an imaginary entity, is now perceived clearly as the precise unit of inheritance that has continually deluged us with amazement by its complex identity and behaviour, sometimes bypassing the university of Mendel's law. The aim of the fifth volume, entitled Genes and Genomes, is to cover the topics ranging from the structure of DNA itself to the structure of the complete genome, along with everything in between, encompassing 12 chapters. These chapters relate much of the information accumulated on the role of DNA in the organization of genes and genomes per se. Several distinguished scientists, all pre-eminent authorities in each field to share their expertise. Obviously, since the historical report on the double helix configuration in 1953, voluminous reports on the meteoric advances in genetics have been accumulated, and to cover every account in a single volume format would be a Herculean task. Therefore, only a few topics are chosen, which are of great interest to molecular geneticists. This volume is intended for advanced graduate students who would wish to keep abreast with the most recent trends in genome biology.
Author: Quannetta T Edwards, PhD, MSN, MPH, FNP-BC, WHNP, AGN-BC, FAANP
Publisher: Springer Publishing Company
ISBN: 0826145620
Category : Medical
Languages : en
Pages : 200
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Book Description
Delivers complex information in an easy-to-read, step-by-step format The genomic era encompasses the entire spectrum of DNA -- all of the genes, and the interaction and inter-relationship of genes (genome) to the environment. Rapidly changing research has led to numerous advances in genetic testing, diagnosis, and treatments, and it is essential that APRNs be able to integrate genetic risk assessment into clinical care. This quick reference delivers complex information in an easy-to-read, step-by-step format with bitesize info boxes and bulleted information to provide the tools necessary to understand genetics/genomics and identify "red flags" that can appear in patient assessments. In an age of personalized and precision medicine, genetic risk assessment has never been more important. Genetics and Genomics in Nursing begins with an overview of genetics and the science behind inheritance. Chapters then break down the processes that make up risk assessment, and walk the reader through data collection and review, identification and calculation of risk, and patient communication. Finally, the last section of this text discusses special populations and key facts nurses need to know about their risk assessment. Key Features: Provides a clear introduction to a complex topic Describes important elements of the genomic risk assessment process for use in clinical settings when evaluating patients Illustrates how to develop a three-generation pedigree Applies commonly-used standardized pedigree symbols and familial patterns to aid in risk interpretation Discusses the challenges and limitations of pedigree interpretation Explains common concepts and includes helpful genomic resources Incorporates genomic risk assessment into patient evaluation
Author: Huntington Willard
Publisher: Springer
ISBN: 9780387709154
Category : Medical
Languages : en
Pages : 400
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Book Description
The Book of Genes & Genomes presents a concise overview of the advances in genetics and genomics and provide the unfamiliar reader with a succinct description of many of the applications and implications of this field. Given the substantial investment in genetics and genomics over the past several decades and the many recent discoveries and developments, this book will help the reader begin to understand the importance of genetics and genomics to us all. This exciting new title includes information on how genetics and genomics has advanced our understanding of health and medicine, evolution, and biology, as well as how they are pushing the boundaries of ethics and social values.
Author: Sukanta Mondal
Publisher: Academic Press
ISBN: 0128206128
Category : Science
Languages : en
Pages : 340
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Book Description
Advances in Animal Genomics provides an outstanding collection of integrated strategies involving traditional and modern - omics (structural, functional, comparative and epigenomics) approaches and genomics-assisted breeding methods which animal biotechnologists can utilize to dissect and decode the molecular and gene regulatory networks involved in the complex quantitative yield and stress tolerance traits in livestock. Written by international experts on animal genomics, this book explores the recent advances in high-throughput, next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches which have enabled to produce huge genomic and transcriptomic resources globally on a genome-wide scale. This book is an important resource for researchers, students, educators and professionals in agriculture, veterinary and biotechnology sciences that enables them to solve problems regarding sustainable development with the help of current innovative biotechnologies. - Integrates basic and advanced concepts of animal biotechnology and presents future developments - Describes current high-throughput next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches for sustainable livestock production - Illustrates integrated strategies to dissect and decode the molecular and gene regulatory networks involved in complex quantitative yield and stress tolerance traits in livestock - Ensures readers will gain a strong grasp of biotechnology for sustainable livestock production with its well-illustrated discussion
Author: Dhavendra Kumar
Publisher: Academic Press
ISBN: 0127999221
Category : Science
Languages : en
Pages : 360
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Book Description
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
