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With the detailed genomic information that is now becoming available, we have a plethora of data that allows researchers to address questions in a variety of areas. Genome-wide association studies (GWAS) have become a vital approach to identify candidate regions associated with complex diseases in human medicine, production traits in agriculture, and variation in wild populations. Genomic prediction goes a step further, attempting to predict phenotypic variation in these traits from genomic information. Genome-Wide Association Studies and Genomic Prediction pulls together expert contributions to address this important area of study. The volume begins with a section covering the phenotypes of interest as well as design issues for GWAS, then moves on to discuss efficient computational methods to store and handle large datasets, quality control measures, phasing, haplotype inference, and imputation. Later chapters deal with statistical approaches to data analysis where the experimental objective is either to confirm the biology by identifying genomic regions associated to a trait or to use the data to make genomic predictions about a future phenotypic outcome (e.g. predict onset of disease). As part of the Methods in Molecular Biology series, chapters provide helpful, real-world implementation advice.
Environmental DNA (eDNA) refers to DNA that can be extracted from environmental samples (such as soil, water, feces, or air) without the prior isolation of any target organism. The analysis of environmental DNA has the potential of providing high-throughput information on taxa and functional genes in a given environment, and is easily amenable to the study of both aquatic and terrestrial ecosystems. It can provide an understanding of past or present biological communities as well as their trophic relationships, and can thus offer useful insights into ecosystem functioning. There is now a rapidly-growing interest amongst biologists in applying analysis of environmental DNA to their own research. However, good practices and protocols dealing with environmental DNA are currently widely dispersed across numerous papers, with many of them presenting only preliminary results and using a diversity of methods. In this context, the principal objective of this practical handbook is to provide biologists (both students and researchers) with the scientific background necessary to assist with the understanding and implementation of best practices and analyses based on environmental DNA.
Given this pervasiveness and importance of miRNA-mediated gene regulation, it should come as little surprise that miRNAs themselves are also highly regulated. However, the recent explosion of knowledge on this topic has been remarkable, providing a primary motivation for publication of this book. As miRNAs are transcribed by RNA polymerase II, the enzyme that also generates mRNAs, it was perhaps not unexpected that miRNA transcription would be subject to regulation, and we have willfully mitted this aspect from this monograph. However, what has been unexpected is the extent of post-transcriptional regulation of miRNAs that is illustrated in this book.
DNA Microarrays: Methods Express covers the very latest in DNA microarray technology, with a clear focus on how these techniques can be used in the lab to gain the very best results. The authors are from some of the leading laboratories in the field and write with real authority on the latest methodology and its applications. Every chapter provides detailed step-by-step protocols with valuable hints and tips for success, as well as giving typical experimental results and selected literature citations. This book is a must have manual for researchers in all fields of biology, medicine, and agriculture.
Advances in chemistry, biology and genomics coupled with laboratory automation and computational technologies have led to the rapid emergence of the multidisciplinary field of chemical genomics. This edited text, with contributions from experts in the field, discusses the new techniques and applications that help further the study of chemical genomics. The beginning chapters provide an overview of the basic principles of chemical biology and chemical genomics. This is followed by a technical section that describes the sources of small-molecule chemicals; the basics of high-throughput screening technologies; and various bioassays for biochemical-, cellular- and organism-based screens. The final chapters connect the chemical genomics field with personalized medicine and the druggable genome for future discovery of new therapeutics. This book will be valuable to researchers, professionals and graduate students in many fields, including biology, biomedicine and chemistry.
This volume details a collection of state-of-art methods including identification of novel ncRNAs and their targets, functional annotation and disease association in different biological contexts. Chapters guide readers through an overview of disease-specific ncRNAs, computational methods and workflows for ncRNA discovery, annotation based on high-throughput sequencing data, bioinformatics tools and databases for ncRNA analyses, network-based methods, and kinetic modelling of ncRNA-mediated gene regulation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Computational Biology of Non-Coding RNA: Methods and Protocols aims to provide a state-of-the-art collection of computational methods and approaches that will be of value to researchers interested in ncRNA field.
Population genomics has revolutionized various disciplines of biology including population, evolutionary, ecological and conservation genetics, plant and animal breeding, human health, medicine and pharmacology by allowing to address novel and long-standing questions with unprecedented power and accuracy. It employs large-scale or genome-wide genetic information and bioinformatics to address various fundamental and applied aspects in biology and related disciplines, and provides a comprehensive genome-wide perspective and new insights that were not possible before. These advances have become possible due to the development of new and low-cost sequencing and genotyping technologies and novel statistical approaches and software, bioinformatics tools, and models. Population genomics is tremendously advancing our understanding the roles of evolutionary processes, such as mutation, genetic drift, gene flow, and natural selection, in shaping up genetic variation at individual loci and across the genome and populations; improving the assessment of population genetic parameters or processes such as adaptive evolution, effective population size, gene flow, admixture, inbreeding and outbreeding depression, demography, and biogeography; resolving evolutionary histories and phylogenetic relationships of extant, ancient and extinct species; understanding the genomic basis of fitness, adaptation, speciation, complex ecological and economically important traits, and disease and insect resistance; facilitating forensics, genetic medicine and pharmacology; delineating conservation genetic units; and understanding the genetic effects of resource management practices, and assisting conservation and sustainable management of genetic resources. This Population Genomics book discusses the concepts, approaches, applications and promises of population genomics in addressing most of the above fundamental and applied crucial aspects in a variety of organisms from microorganisms to humans. The book provides insights into a range of emerging population genomics topics including population epigenomics, landscape genomics, seascape genomics, paleogenomics, ecological and evolutionary genomics, biogeography, demography, speciation, admixture, colonization and invasion, genomic selection, and plant and animal domestication. This book fills a vacuum in the field and is expected to become a primary reference in Population Genomics world-wide.
This book examines the peculiarities of the circular dichroism (CD) spectra of the double-stranded (ds) DNA cholesteric liquid-crystalline dispersions (CLCDs). The main physico-chemical properties formed as a result of the phase exclusion of these molecules in water-salt or water-salt-polymer-containing solutions are examined. In addition, the main principles of the theory of optical properties of imperfect, absorbing, cholesteric liquid crystals is discussed.
This book presents the basic results on studies of the interaction of anti-cancer Actinomycin antibiotics with DNA. It focuses on interactions of heterocyclic anti-tumour antibiotics (Actinomycins, as typical example) with DNA, poly-nucleotides, oligonucleotides, and aggregates of purines, using spectroscopic methods. Experimental data, various models of structures of the complexes and their physical and chemical properties are described, and possible approaches for delivery of heterocyclic antibiotics to DNA are also discussed.
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 detailed coverage in 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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
This book explores the double coding property of DNA, which is manifested in the digital and analog information types as two interdependent codes. This double coding principle can be applied to all living systems, from the level of the individual cell to entire social systems, seen as systems of communication. Further topics discussed include the ubiquitous problem of logical typing, which reflects our inherent incapacity to simultaneously perceive discontinuity and continuity, the problem of time, and the peculiarities of autopoietic living systems. It is shown that the scientific "truths" that appear to be coherent constructions connecting the scientifically verified observations by the rules of logic are in fact always relative and never absolute.
This book provides an introduction to the latest gene mapping techniques and their applications in biomedical research and evolutionary biology. It especially highlights the advances made in large-scale genomic sequencing. Results of studies that illustrate how the new approaches have improved our understanding of the genetic basis of complex phenotypes including multifactorial diseases (e.g., cardiovascular disease, type 2 diabetes, and obesity), anatomic characteristics (e.g., the craniofacial complex), and neurological and behavioral phenotypes (e.g., human brain structure and nonhuman primate behavior) are presented. Topics covered include linkage and association methods, gene expression, copy number variation, next-generation sequencing, comparative genomics, population structure, and a discussion of the Human Genome Project. Further included are discussions of the use of statistical genetic and genetic epidemiologic techniques to decipher the genetic architecture of normal and disease-related complex phenotypes using data from both humans and non-human primates.
The use of DNA arrays and proteomics will transform the scale of our ability to describe the patterns of gene expression as bacteria respond to their environments. However, the ability to control bacteria in a clinical context or exploit them in industrial or environmental contexts also depends on understanding the regulatory mechanisms which connect input experience to output response at the genetic level. This book deals with our current knowledge of the circuits and networks that govern bacterial gene expression--from the single gene to the whole genome--and which provide the framework for explaining the data from the post genomics revolution.
The past few years have witnessed a revolution in our ability to obtain DNA from ancient humans. This important new data has added to our knowledge from archaeology and anthropology, helped resolve long-existing controversies, challenged long-held views, and thrown up remarkable surprises. The emerging picture is one of many waves of ancient human migrations, so that all populations living today are mixes of ancient ones, and often carry a genetic component from archaic humans. David Reich, whose team has been at the forefront of these discoveries, explains what genetics is telling us about ourselves and our complex and often surprising ancestry. Gone are old ideas of any kind of racial apurity.' Instead, we are finding a rich variety of mixtures. Reich describes the cutting-edge findings from the past few years, and also considers the sensitivities involved in tracing ancestry, with science sometimes jostling with politics and tradition. He brings an important wider message: that we should recognize that every one of us is the result of a long history of migration and intermixing of ancient peoples, which we carry as ghosts in our DNA. What will we discover next?
This monograph presents a new disciplinecultural genomicsas a complex approach for studying the interrelation between genomic data and culture and the impact of culture on genomic evolution in human history. It analyzes three basic components of cultural genomicsarchaeology, genealogy, and genomics. The author explores the classifications of archaeology and genealogy as traditional disciplines and tests their peculiarities against the limitations and delimitations of genomics to resolve the problems of human origin and historical demography. The main thesis in the book is that cultural genomics as a complex discipline has been changing the dynamics of exploring the human cultural identity in revolutionary ways and the problems of personal origin and lineage. Additionally, this book analyzes the evolution of human civilization and its requirement for close integration of genomics, archaeology, genetic genealogy, traditional genealogy, and other related social and cultural disciplines. Cultural identity is the basic constructor of the progress of human civilization. Cultural genomics allows researchers to personalize human history and embed new parameters of identity from the perspective of origin. However, the success of the scholarly results depends on how well genomics is blended with related branches of the science of humanity to produce quality results. Many topics of cultural identity still dwell only in the domain of traditional archaeology and genealogy, although genomics has expanded the opportunity to learn not only how cultural identity evolved, but also to create platforms of global networks of interrelatedness that have no analogies in the previous human scholarly experience. The innovative scholarly problems that the author addresses and the general attempt to constitute cultural genomics as a leading complex discipline of human cultural identity in the 21st century connect the book to the interests of the global scholarly community and all who are interested in cultural identity, genomic archaeology, genetic genealogy, and human origin as well as the evolution of human civilization. The author of this study, Dr. Lolita Nikolova, is a globally renowned scientist who has conducted an in-depth and complex original research; she uniquely combines expertise in the fields of prehistoric archaeology, genealogy, and cultural genomics.
Epigenetics can potentially revolutionize our understanding of the structure and behavior of biological life on Earth. It explains why mapping an organism's genetic code is not enough to determine how it develops or acts and shows how nurture combines with nature to engineer biological diversity. Surveying the twenty-year history of the field while also highlighting its latest findings and innovations, this volume provides a readily understandable introduction to the foundations of epigenetics.
Nessa Carey, a leading epigenetics researcher, connects the field's arguments to such diverse phenomena as how ants and queen bees control their colonies; why tortoiseshell cats are always female; why some plants need cold weather before they can flower; and how our bodies age and develop disease. Reaching beyond biology, epigenetics now informs work on drug addiction, the long-term effects of famine, and the physical and psychological consequences of childhood trauma. Carey concludes with a discussion of the future directions for this research and its ability to improve human health and well-being.
Often imitated but never rivalled, DNA Replication, regarded around the world as a classic of modern science, is now back in print in a paperback edition. Tania Baker and Nobel Prize-winner Arthur Kornberg's insightful coverage of DNA replication and related cellular processes have made this 1992 edition the standard reference in the field.
The genetic revolution has provided incredibly valuable information about our DNA, information that can be used to benefit and inform--but also to judge, discriminate, and abuse. An essential reference for living in today's world, this book gives the background information critical to understanding how genetics is now affecting our everyday lives. Written in clear, lively language, it gives a comprehensive view of exciting recent discoveries and explores the ethical, legal, and social issues that have arisen with each new development.
Crick and Watson's discovery of the structure of DNA fifty years ago marked one of the great turning points in the history of science. Biology, immunology, medicine and genetics have all been radically transformed in the succeeding half-century, and the double helix has become an icon of our times. This fascinating exploration of a scientific phenomenon provides a lucid and engaging account of the background and context for the discovery, its significance and afterlife, while a series of essays by leading scientists, historians and commentators offers uniquely individual perspectives on DNA and its impact on modern science and society.
The sequencing of the human genome was a pivotal event in science that opened the door to exploring the structure and function of genes and their regulation. The activation or suppression of transcribed genes is critical to the orchestration of everyday biological processes at the cellular, tissue, and physiological levels. The rapid advance of science and technology has yielded the development of the microarray technique, which has propelled a much deeper understanding of the genome. By combining these technological advances in microarrays with statistical and bioinformatics software, investigators are now able to perform scientific investigations geared towards answering unique biological problems that encompass many fields of research from genetics and evolution to molecular medicine, health, and disease. This book provides an overview of the use and application of microarrays throughout the life sciences to address diverse complex biological questions. In this collection, authors present information on using microarrays to unlock molecular mechanisms and gene expression patterns associated with research areas ranging from biodefense, pathological changes, and monitoring antimicrobial resistance genes to diagnostics, marine biodiversity, and dermal toxicology.
This book provides a timely summary of physical modeling approaches applied to biological datasets that describe conformational properties of chromosomes in the cell nucleus. Chapters explain how to convert raw experimental data into 3D conformations, and how to use models to better understand biophysical mechanisms that control chromosome conformation. The coverage ranges from introductory chapters to modeling aspects related to polymer physics, and data-driven models for genomic domains, the entire human genome, epigenome folding, chromosome structure and dynamics, and predicting 3D genome structure.
Microarray Image and Data Analysis: Theory and Practice is a compilation of the latest and greatest microarray image and data analysis methods from the multidisciplinary international research community. Delivering a detailed discussion of the biological aspects and applications of microarrays, the book: Describes the key stages of image processing, gridding, segmentation, compression, quantification, and normalization Features cutting-edge approaches to clustering, biclustering, and the reconstruction of regulatory networks Covers different types of microarrays such as DNA, protein, tissue, and low- and high-density oligonucleotide arrays Examines the current state of various microarray technologies, including their availability and affordability Explains how data generated by microarray experiments are analyzed to obtain meaningful biological conclusions An essential reference for academia and industry, Microarray Image and Data Analysis: Theory and Practice provides readers with valuable tools and techniques that extend to a wide range of biological studies and microarray platforms.
Internationally acclaimed science writer Lone Frank swabs up her DNA to provide the first truly intimate account of the new science of consumer-led genomics. She challenges the business mavericks intent on mapping every baby's genome, ponders the consequences of biological fortune-telling, and prods the psychologists who hope to uncover just how much or how little our environment will matter in the new genetic century - a quest made all the more gripping as Frank considers her family's and her own struggles with depression.
Applications of nucleic acids have developed recently to provide solutions for biosensors, diagnostic tools and as platforms for the assembly of complex structures. These developments have been possible as their base sequence can be used to assemble precise structures following simple and predictable rules. Self-assembled DNA can then be amplified using polymerase chain reaction (PCR) and this ultimately enables the preparation of synthetic nucleic acids. Their use as molecular tools or DNA-conjugates has recently been enhanced by the addition of other groups including enzymes, fluorophores and small molecules. Written by leaders in the field, this volume describes the preparation and application of these DNA-conjugates. Several have been used as sensors (aptamers, riboswitches and nanostructures) based on the ability of nucleic acids to adopt specific structures in the presence of ligands, whilst others link reporter groups such as proteins or fluorophores to RNA or DNA for detection, single molecule studies, and increasing the sensitivity of PCR. The book is relevant to researchers in areas related to analytical chemistry, chemical biology, medicinal chemistry, molecular pharmacology, and structural and molecular biology.
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