Genomics is a new and fast expanding area of biology encompassing high throughput or large scale experimentation at the whole genome level, and the organization, analysis and interpretation of the huge amount of data emerging from genome projects. Major new technologies have evolved recently that enable experimentation at the whole genome level, and more novel technologies are currently being developed. This volume describes in detail the new technology necessary to study the entire genome in a holistic manner and all the high throughput and large-scale experimental methodologies currently being used in genomic science. In addition the authors describe the progress of the newest technologies that are currently being developed. Written by experts in the field, this concise yet informative volume covers all aspects of technology pertaining to genomic studies. It is an essential book for anyone involved in genomic science.
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field
The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.
Knowing one's genetic disposition to a variety of diseases, including common chronic diseases, can benefit both the individual and society at large. The IOM's Roundtable on Translating Genomic-Based Research for Health held a workshop on March 22, 2010, to bring together diverse perspectives on the value of genetic testing, and to discuss its use in clinical practice.
Principles and Applications of Genomic Technologies in Expanded Biosecurity Concepts
Author: Manousos E. Kambouris
Publisher: Academic Press
Genomics in Biosecurity, a new volume in the Translational and Applied Genomics series, explains in definite and practical terms the applicability of genomic technologies in every aspect of biosecurity, from emergent diagnostics to bioterrorism, agroterrorism, next generation biowarfare, biosurveillance, and risk assessment. This book offers an integrated discussion of genomics and GCBR (global catastrophic biological risks) events, considering both basic aspects of biosecurity genomics and application of genomic technologies to drive new solutions. Here, following foundational overviews, readers will find evidence-based strategies to apply genomics in disease and pathogen monitoring and diagnosis, but also as staged countermeasures for spontaneous and perpetrated events (e.g., bioterrorism). Social aspects of GCBR events and genomic biosecurity, such as issues of terrorism, policy ethics, and practice, are also considered in-depth. Examines the use of genomics in pathogen monitoring and diagnosis, biosurveillance, and countermeasures for spontaneous and perpetrated events Discusses social, ethical, and policy aspects of GCBR events and the use of genomic technologies in biosecurity Empowers new solutions in biorestoration, biocrime, counterbioterrorism, disaster management, and humanitarian crisis response Features chapter contributions from a range of international specialists
Genomic Medicine in Resource-limited Countries: Genomics for Every Nation provides in-depth analysis and key examples of the implementation of medical genomics in low-income nations across the globe, demonstrating how this advancing medical science has not only transformed health systems, but also led to improved patient care in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, among others. In addition to defining tools, diagnostics and treatment pathways at the population-wide level for medical geneticists, genomic researchers and public health workers, this book offers a case-study based approach that helps users understand how genomic medicine is used in disease-management. Examines essential concepts and protocols, and economic, social and legal considerations related to the implementation of genomic medicine in resource-limited nations Features concrete success stories of the implementation of medical genomics in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, amongst others Provides tools, diagnostics and treatment pathways for medical geneticists, genomic researchers and public health workers to apply in their own work Establishes clear precedents on how genomic technologies can be accessed by nations with limited means and financial support for healthcare
In recent decades, significant advances in new methodologies like DNA sequencing and high-throughput sequencing have been used to identify microorganisms and monitor their interactions with different environments. Microbial genomics techniques are opening new approaches to microbiology by revealing how microorganisms affect human beings and the environment. This book covers four major areas: 1) Environmental microbial genomics, 2) Microbial genomics in human health, 3) Microbial genomics in crop improvement and plant health protection, and 4) Genome analysis of microbial pathogens. Within these areas, the topics addressed include: microbial genome diversity, evolution, and microbial genome sequencing; bioinformatics and microarray-based genomic technologies; functional genomics of bioremediation of soil and water from organic and inorganic pollutants and carbon management; functional genomics of microbial pathogens and relevant microorganisms; functional genomics of model microorganisms; and applied functional genomics. Given its scope, the book offers a comprehensive source of information on the latest applications of microorganisms and microbial genomics to enhance the sustainability of agriculture and the environment.
An estimated one in eight couples in the United States are diagnosed with infertility. There is a significant genetic contribution to infertility, with estimates of heritability ranging from 0.2 to 0.5. We know surprisingly little about the genetic causes, with only slightly more than a hundred genes known to cause human infertility. I have been translating recent advances in genomics to study infertility in a more efficient manner, in order to improve our knowledge of the genetic causes. By using high throughput genomics and proteomics datasets from other groups, I was able to feed that into a machine learning algorithm to predict novel fertility function genes. While not perfect, this computational model performs comparably to other publish prediction models. In order to test the top predicted fertility genes I also developed an experimental technique to simultaneously screen up to hundreds of genes for spermatogenesis function in vivo in mice. This method is based off of RNAi, and I was able to benchmark its performance to demonstrate that it performed comparably to other benchmarked RNAi screens in flies. I then used this method to test the top 26 predicted spermatogenesis genes and showed that most of them (24/26) have an important role in spermatogenesis. Using this technique, other groups can screen genes for spermatogenesis function in a fraction of the time and cost compared to the traditional approach of generating knockout mouse lines. Finally, I describe the progress I have made in using genetic engineering to rescue spermatogenesis in mice. By analyzing the missteps I have made in delivering constitutively expressed transgenes and CRISPR genes into mouse testes, I describe the probably reasons for my failure and how to implement future experiments to get more success.
While the sequence of the human genome sequence has hit the headlines, extensive exploitation of this for practical applications is still to come. Genomic and post-genomic technologies applied to viral and bacterial pathogens, which are almost equally important from a scientific perspective, have the potential to be translated into useful products and processes much more rapidly. Genomics, Proteomics and Vaccines introduces the history of vaccinology and discusses how vaccines are expected to evolve in the future. It describes the relevant technologies, including genome sequencing and analysis, DNA microarrays, 2D electrophoresis and 2D chromatography, mass spectrometry and high-throughput protein expression and purification. The book also features examples of the exploitation of genomics and post-genomics in vaccine discovery, and contains useful descriptions of the biology and pathogenesis of clinically important bacterial pathogens. This book should be of interest to all those working in vaccine discovery and development in pharmaceutical and biotechnology companies as well as in academic institutions
This book includes papers presented at the 2017 Joint meeting of Fodder Crops and Amenity Grasses Section and Protein Crops Working Group of EUCARPIA-Oil and Protein Crops Section. The theme of the meeting “Breeding Grasses and Protein Crops in the Era of Genomics” has been divided into six parts: (1) Utilisation of genetic resources and pre-breeding, (2) Genetic improvement of quality and agronomic traits, (3) Breeding for enhanced stress tolerance (4) Implementation of phenomics and biometrics, (5) Development of genomic tools and bioinformatics and (6) Reports of Parallel Sessions.
Genomics is a rapidly growing scientific field with applications ranging from improved disease resistance to increased rate of growth. Aquaculture Genome Technologies comprehensively covers the field of genomics and its applications to the aquaculture industry. This volume looks to bridge the gap between a basic understanding of genomic technology to its practical use in the aquaculture industry.
Marine biology has always played an important role in biological research, being at the origin of many key advances. To a certain extent, the influence of marine biology on the biological sciences was overshadowed over a period of several years by the remarkable advances that were made using powerful model organisms from terrestrial environments. This situation is now changing again, however, due primarily to spectacular developments in genomic methodologies that have significantly accelerated research in a broad spectrum of marine biology disciplines ranging from biodiversity to developmental biology to biotechnology. The data generated by marine genomics projects have had an impact on questions as diverse as understanding planetary geochemical cycles, the impact of climate change on marine fauna and flora, the functioning of marine ecosystems, the discovery of new organisms and novel biomolecules, and investigation of the evolution of animal developmental complexity. This book represents the first attempt to document how genomic technologies are revolutionising these diverse domains of marine biology. Each chapter of this book looks at how these technologies are being employed in a specific domain of marine research and provides a summary of the major results obtained to date. The book as a whole provides an overview of marine genomics as a discipline and represents an ideal starting point for exploring this rapidly developing domain.
As we enter the twenty-first century, the polar biological sciences stand well poised to address numerous important issues, many of which were unrecognized as little as 10 years ago. From the effects of global warming on polar organisms to the potential for life in subglacial Lake Vostok, the opportunities to advance our understanding of polar ecosystems are unprecedented. The era of â€œgenome-enabledâ€ biology is upon us, and new technologies will allow us to examine polar biological questions of unprecedented scope and to do so with extraordinary depth and precision. Frontiers in Polar Biology in the Genomic Revolution highlights research areas in polar biology that can benefit from genomic technologies and assesses the impediments to the conduct of polar genomic research. It also emphasizes the importance of ancillary technologies to the successful application of genomic technologies to polar studies. It recommends the development of a new initiative in polar genome sciences that emphasizes collaborative multidisciplinary research to facilitate genome analyses of polar organisms and coordinate research efforts.
This book is the first comprehensive volume on the genetics and genomics of pineapple and provides an overview of the current state of pineapple research. Pineapple [Ananas comosus (L.) Merr.] is the second most important tropical fruit after banana in term of international trade. Its features are advantageous for genomic research: it has a small genome of 527 Mb which is diploid and vegetatively propagated; it is monocot, closely related to the grass family that includes major cereal crops, wheat, rice, corn, sorghum, and millet; and it serves as an out group for genetic and genomic research in grasses. In addition to exploring the evolution and improvement of pineapple, this work examines the pineapple genome with respect to genome structure and organization, comparative analyses with other angiosperm genomes, transcription factors, disease resistance, and circadian clock regulation of CAM related genes. With chapters covering botanical, genetic, genomic, and applied aspects of pineapple, this text also encourages the application of genomic technologies and suggests future prospects.
Microbial Diversity in the Genomic Era presents insights on the techniques used for microbial taxonomy and phylogeny, along with their applications and respective pros and cons. Though many advanced techniques for the identification of any unknown bacterium are available in the genomics era, a far fewer number of the total microbial species have been discovered and identified to date. The assessment of microbial taxonomy and biosystematics techniques discovered and practiced in the current genomics era with suitable recommendations is the prime focus of this book. Discusses the techniques used for microbial taxonomy and phylogeny with their applications and respective pros and cons Reviews the evolving field of bacterial typing and the genomic technologies that enable comparative analysis of multiple genomes and the metagenomes of complex microbial environments Provides a uniform, standard methodology for species designation
Presents genetics and genomic essentials specifically for graduate-level nursesPrenatal care, cardiology, cancer and other disease systems covered in depth by chapter expertsKey chapter devoted to ethical and legal issues and to future technology Designed as both a nursing reference and course text, this book presents genetics and genomic essentials specifically for graduate-level nurses. Preliminary chapters cover the basics of genetics, risk assessment and genetic testing. With chapter contributions by topic experts, the remainder of the book is organized by disease system and covers genetics and genomics in prenatal care, neurology, cancer, respiratory function, cardiology, pharmacogenomics, hematology and others. Key chapters on ethical and legal issues and future technology are also included. This volume is well-suited for nursing faculty, nursing students, nurse leaders, and other nursing professionals with a need for further information on genetics and genomics in a nursing role and across a variety of specialties.
Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy challenges that emerge as comprehensive sequencing of the human genome transitions from research to clinical medicine. Narrative genomics aims to enhance understanding of how we evaluate, process, and share genomic information, and to cultivate a deeper appreciation for difficult decisions encountered by health care professionals, bioethicists, families, and society as this technology reaches the bedside. This innovative book includes both original genomic plays and theatrical excerpts that illuminate the implications of genomic information and emerging technologies for physicians, scientists, counselors, patients, blood relatives, and society. In addition to the plays, the authors provide an analytical foundation to frame the many challenges that often arise.
The advances in genomic technologies, such as microarrays and high throughput sequencing, have expanded the realm of possibilities for capturing data and analyzing it using automated computer driven bioinformatics tools. With the completion of the sequencing of genomes of human and several model organisms, a quest for scientific discoveries being fueled by integrative and multidimensional techniques in mathematics and computational sciences. In this volume, leading researchers and experts have provided an overview of significant concepts from biological, mathematical, and computational perspectives. It provides a high level view of fungal genomic data integration and annotation, classification of proteins and identification of vaccine targets, identification of secretome or secreted proteins in fungal genomes, as well as tools for analyzing microarray expression profiles. Provides a survey of theoretical underpinnings on the technological tools and applications Discusses the tools utilized for the annotation of fungal genomes and addresses issues related to automated annotation generation in a high throughput biotechnology environment Describes the applications of the concepts and methodologies presented throughout the book