RNA Interference (RNAi) technology has rapidly become one of the key methods used in functional genomics. RNAi is used to block the expression of genes and create phenotypes that can potentially yield clues about the function of these genes. In the postgenomic era, the elucidation of the physiological function of genes has become the rate-limiting step in the quest to develop 'gene-based drugs' and RNAi could potentially play a pivotal role in the validation of such novel drugs. In this 2005 overview, the basic concepts and applications of RNAi biology are discussed. Leading experts from both academia and industry have contributed to this invaluable reference. The volume is forwarded by Andrew Fire, one of the winners of the 2006 Nobel Prize for the discovery of RNA Interference.

Microsatellites are short stretches of repeated DNA that show exceptional variability in humans and most other species. This variability has made microsatellites the genetic marker of choice for most applications, including genetic mapping and studies of the evolutionary connections between species and populations. This book brings together an international group of scientists currently working in microsatellites. They detail the molecular processes that have given rise to microsatellite DNA, and then describe the various ways in which the potential of microsatellites is being harnessed in medical genetics, behavioural and evolutionary biology, and ecology.

In 2007, Misha Angrist became the fourth subject in the Personal Genome Project, George Church's ambitious plan to sequence the entire genomic catalog: every participant's twenty thousand-plus genes and the rest of his or her 6 billion base pairs. Church hopes to better understand how genes influence our physical traits, from height and athletic ability to behavior and weight, and our medical conditions, from cancer and diabetes to obesity and male pattern baldness. Now Angrist reveals startling information about the experiment's participants and scientists; how the experiment was, is, and will be conducted; the discoveries and potential discoveries; and, the profound implications of having an unfiltered view of our hardwired selves for us and for our children. DNA technology has already changed our health care, the food we eat, and our criminal justice system. Unlocking the secrets of our genomes opens the door not only to helping us understand why we are the way we are and potentially fixing what ails us but also to many other concerns: What exactly will happen to this information? Will it become just another marketing tool? Can it help us understand our ancestry, or will it merely reinforce old ideas of race? Can personal genomics help fix the U.S. health care system? "Here Is a Human Being" explores these complicated questions while documenting Angrist's own fascinating journey-one that tens of thousands of us will soon make.

As our ability to acquire massive amounts of information about genome variation accelerates it is becoming increasingly clear that to make maximum use of this information we also need well-structured, systematic data on the phenotypic consequences of genomic changes. Phenomics is the new discipline of using standardized measurement techniques to characterize the phenotypic effects of random or systematic genome modifications (for example randomly generated mutations or systematic gene knockouts). This approach is now being used in an increasing range of species and systems. In this book, experts working in phenomics in most of the major species and systems that are currently being studied present overviews of the field from their different, but overlapping perspectives.

Wide coverage of traditional unsupervised and supervised methods and newer contemporary approaches that help researchers handle the rapid growth of classification methods in DNA microarray studies

Proliferating classification methods in DNA microarray studies have resulted in a body of information scattered throughout literature, conference proceedings, and elsewhere. This book unites many of these classification methods in a single volume. In addition to traditional statistical methods, it covers newer machine-learning approaches such as fuzzy methods, artificial neural networks, evolutionary-based genetic algorithms, support vector machines, swarm intelligence involving particle swarm optimization, and more.

"Classification Analysis of DNA Microarrays "provides highly detailed pseudo-code and rich, graphical programming features, plus ready-to-run source code. Along with primary methods that include traditional and contemporary classification, it offers supplementary tools and data preparation routines for standardization and fuzzification; dimensional reduction via crisp and fuzzy c-means, PCA, and non-linear manifold learning; and computational linguistics via text analytics and n-gram analysis, recursive feature extraction during ANN, kernel-based methods, ensemble classifier fusion.

This powerful new resource: Provides information on the use of classification analysis for DNA microarrays used for large-scale high-throughput transcriptional studiesServes as a historical repository of general use supervised classification methods as well as newer contemporary methodsBrings the reader quickly up to speed on the various classification methods by implementing the programming pseudo-code and source code provided in the bookDescribes implementation methods that help shorten discovery times

"Classification Analysis of DNA Microarrays" is useful for professionals and graduate students in computer science, bioinformatics, biostatistics, systems biology, and many related fields.

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter

Passionate, provocative, and highly illuminating, Hacking Darwin is the must read book about the future of our species for fans of Homo Deus and The Gene.

After 3.8 billion years humankind is about to start evolving by new rules...

From leading geopolitical expert and technology futurist Jamie Metzl comes a groundbreaking exploration of the many ways genetic-engineering is shaking the core foundations of our lives ― sex, war, love, and death.

At the dawn of the genetics revolution, our DNA is becoming as readable, writable, and hackable as our information technology. But as humanity starts retooling our own genetic code, the choices we make today will be the difference between realizing breathtaking advances in human well-being and descending into a dangerous and potentially deadly genetic arms race.

Enter the laboratories where scientists are turning science fiction into reality. Look towards a future where our deepest beliefs, morals, religions, and politics are challenged like never before and the very essence of what it means to be human is at play. When we can engineer our future children, massively extend our lifespans, build life from scratch, and recreate the plant and animal world, should we?

This book is open access under a CC BY 4.0 license This open access book brings together the latest genome base prediction models currently being used by statisticians, breeders and data scientists. It provides an accessible way to understand the theory behind each statistical learning tool, the required pre-processing, the basics of model building, how to train statistical learning methods, the basic R scripts needed to implement each statistical learning tool, and the output of each tool. To do so, for each tool the book provides background theory, some elements of the R statistical software for its implementation, the conceptual underpinnings, and at least two illustrative examples with data from real-world genomic selection experiments. Lastly, worked-out examples help readers check their own comprehension.The book will greatly appeal to readers in plant (and animal) breeding, geneticists and statisticians, as it provides in a very accessible way the necessary theory, the appropriate R code, and illustrative examples for a complete understanding of each statistical learning tool. In addition, it weighs the advantages and disadvantages of each tool.

People have always sought medical care that is tailored to every individual patient. Alongside with the historical development of institutions of care, the vision of personal and 'holistic' care persisted. Patient-centred medicine, interpersonal communication and shared decision making have become central to medical practice and services. This evolving vision of 'personalized medicine' is in the forefront of medicine, creating debates among ethicists, philosophers and sociologists of medicine about the nature of disease and the definition of wellness, the impact on the daily life of patients, as well as its implications on low-income countries. Is increased 'precision' also an improvement on the personal aspects of care or erosion of privacy? Do 'precise' and 'personalized' approach marginalize public health, and can this care be personalized without attention to culture, economy and society? The book provides a multidisciplinary and interdisciplinary discussion of the ethos and ethics of precision/personal medicine, involving scientists who have shaped the field, in dialogue with ethicists, social scientists and philosophers of science. The contributing scholars come from all over the world and from different cultural backgrounds providing reflective perspectives of history of ideas, critical theory and technology assessment, together with the actual work done by pioneers in the field. It explores issues such as global justice, gender, public health, pharmaceutical industry, international law and religion, and explores themes discussed in relation to personalized medicine such as new-born screening and disorders of consciousness. This book will be of interest to academicians in bioethics, history of medicine, social sciences of medicine as well as general educated readers.

"Genome Transcriptome and Proteome Analysis" is a concise introduction to the subject, successfully bringing together these three key areas of research. Starting with a revision of molecular genetics the book offers clear explanations of the tools and techniques widely used in genome, transcriptome and proteome analysis. Subsequent chapters offer a broad overview of linkage maps, physical maps and genome sequencing, with a final discussion on the identification of genes responsible for disease. An invaluable introduction to the basic concepts of the subject, this text offers the student an excellent overview of current research methods and applications and is a good starting point for those new to the area. It gives a clear, concise introduction to the subject of modern genomic analysis. It provides a technology-oriented approach including the latest developments in the field. It is invaluable to those students taking courses in Bioinformatics, Human Genetics, Biochemistry and Molecular Biology.

Anatomy of Gene Regulation is the first book to present the parts and processes of gene regulation at the three-dimensional level. Vivid structures of nucleic acids and their companion proteins are revealed in full-color, three dimensional form. Beginning with a general introduction to three-dimensional structures, the book looks at the organization of the genome, the structure of DNA, DNA replication and transcription, splicing, protein synthesis, and ultimate protein death. This concise and unique synthesis and its accompanying web site offer insight into gene regulation, and into the development of methods to interfere with regulation at diseased states.

Probablistic models are becoming increasingly important in analyzing the huge amount of data being produced by large-scale DNA-sequencing efforts such as the Human Genome Project. For example, hidden Markov models are used for analyzing biological sequences, linguistic-grammar-based probabilistic models for identifying RNA secondary structure, and probabilistic evolutionary models for inferring phylogenies of sequences from different organisms. This book gives a unified, up-to-date and self-contained account, with a Bayesian slant, of such methods, and more generally to probabilistic methods of sequence analysis. Written by an interdisciplinary team of authors, it is accessible to molecular biologists, computer scientists, and mathematicians with no formal knowledge of the other fields, and at the same time presents the state of the art in this new and important field.

The concept of epigenetics has been known about since the 1940s, but it is only in the last 10 years that research has shown just how wide ranging its effects are. It is now a very widely-used term, but there is still a lot of confusion surrounding what it actually is and does. Epigenetics is a new textbook that brings together the structure and machinery of epigenetic modification, how epigenetic modification controls cellular functions, and the evidence for the relationship between epigenetics and disease. It is a valuable source of information about all aspects of the subject for undergraduate students, graduate students, and professionals.

Birds catch the public imagination like no other group of animals; in addition, birders are perhaps the largest non-professional naturalist community. Genomics and associated bioinformatics have revolutionised daily life in just a few decades. At the same time, this development has facilitated the application of genomics technology to ecological and evolutionary studies, including biodiversity and conservation at all levels. This book reveals how the exciting toolbox of genomics offers new opportunities in all areas of avian biology. It presents contributions from prominent experts at the intersection of avian biology and genomics, and offers an ideal introduction to the world of genomics for students, biologists and bird enthusiasts alike. The book begins with a historical perspective on how genomic technology was adopted by bird ecology and evolution research groups. This led, as the book explains, to a revised understanding of avian evolution, with exciting consequences for biodiversity research as a whole. Lastly, these impacts are illustrated using seminal examples and the latest discoveries from avian biology laboratories around the world.

RNA-based Regulation in Human Health and Disease offers an in-depth exploration of RNA mediated genome regulation at different hierarchies. Beginning with multitude of canonical and non-canonical RNA populations, especially noncoding RNA in human physiology and evolution, further sections examine the various classes of RNAs (from small to large noncoding and extracellular RNAs), functional categories of RNA regulation (RNA-binding proteins, alternative splicing, RNA editing, antisense transcripts and RNA G-quadruplexes), dynamic aspects of RNA regulation modulating physiological homeostasis (aging), role of RNA beyond humans, tools and technologies for RNA research (wet lab and computational) and future prospects for RNA-based diagnostics and therapeutics. One of the core strengths of the book includes spectrum of disease-specific chapters from experts in the field highlighting RNA-based regulation in metabolic & neurodegenerative disorders, cancer, inflammatory disease, viral and bacterial infections. We hope the book helps researchers, students and clinicians appreciate the role of RNA-based regulation in genome regulation, aiding the development of useful biomarkers for prognosis, diagnosis, and novel RNA-based therapeutics.

Developmental and Fetal Origins of Differences in Monozygotic Twins: From Genetics to Environmental Factors examines the major causes of discordance in monozygotic twins, from genetic, to environmental influences, including discussions on the genetic, epigenetic, fetal and environmental factors. Twin differences discussed include malformations, deformations and disruptions secondary to inequitable division of the early embryo, chromosome and single gene mosaicism, Nonrandom X chromosome inactivation, mitochondrial heteroplasmy, epigenetic variation, and variable and inequitable blood supply, among other influences. Differences in hemoglobin levels, placentation and amniotic fluid are also examined, while full color images illustrate discordant anomalies and twin differences throughout.

This Microbiology Monographs volume covers the current and most recent advances in genomics and genetics, biochemistry, physiology, and molecular biology of C. reinhardtii. Expert international scientists contribute with reviews on the genome, post-genomic techniques, the genetic toolbox development as well as new insights in regulation of photosynthesis and acclimation strategies towards environmental stresses and other structural and genetic aspects, including applicable aspects in biotechnology and biomedicine. Advancement in Chlamydomonas biology allowed new understandings in biotechnological and biomedical related aspects.

The bestselling introduction to bioinformatics and genomics now in its third edition Widely received in its previous editions, Bioinformatics and Functional Genomics offers the most broad-based introduction to this explosive new discipline. Now in a thoroughly updated and expanded third edition, it continues to be the go-to source for students and professionals involved in biomedical research. This book provides up-to-the-minute coverage of the fields of bioinformatics and genomics. Features new to this edition include: * Extensive revisions and a slight reorder of chapters for a more effective organization * A brand new chapter on next-generation sequencing * An expanded companion website, also updated as and when new information becomes available * Greater emphasis on a computational approach, with clear guidance of how software tools work and introductions to the use of command-line tools such as software for next-generation sequence analysis, the R programming language, and NCBI search utilities The book is complemented by lavish illustrations and more than 500 figures and tables - many newly-created for the third edition to enhance clarity and understanding. Each chapter includes learning objectives, a problem set, pitfalls section, boxes explaining key techniques and mathematics/statistics principles, a summary, recommended reading, and a list of freely available software. Readers may visit a related Web page for supplemental information such as PowerPoints and audiovisual files of lectures, and videocasts of how to perform many basic operations: www.wiley.com/go/pevsnerbioinformatics. Bioinformatics and Functional Genomics, Third Edition serves as an excellent single-source textbook for advanced undergraduate and beginning graduate-level courses in the biological sciences and computer sciences. It is also an indispensable resource for biologists in a broad variety of disciplines who use the tools of bioinformatics and genomics to study particular research problems; bioinformaticists and computer scientists who develop computer algorithms and databases; and medical researchers and clinicians who want to understand the genomic basis of viral, bacterial, parasitic, or other diseases.

Surveying the last sixty years of research, this book describes the physical properties of DNA in the context of its biological functioning. It is designed to enable both students and researchers of molecular biology, biochemistry and physics to better understand the biophysics of DNA, addressing key questions and facilitating further research. The chapters integrate theoretical and experimental approaches, emphasising throughout the importance of a quantitative knowledge of physical properties in building and analysing models of DNA functioning. For example, the book shows how the relationship between DNA mechanical properties and the sequence specificity of DNA-protein binding can be analyzed quantitatively by using our current knowledge of the physical and structural properties of DNA. Theoretical models and experimental methods in the field are critically considered to enable the reader to engage effectively with the current scientific literature on the physical properties of DNA.

This book constitutes the proceedings of the 15th International Workshop Comparative Genomics, RECOMB-CG 2017, held in Barcelona, Spain, in October 2017. The 16 full papers presented were carefully reviewed and selected from 32 submissions. The papers report original research in all areas of Comparative Genomics.

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.

Around 200,000 years ago, a man--identical to us in all important respects--lived in Africa. Every person alive today is descended from him. How did this real-life Adam wind up father of us all? What happened to the descendants of other men who lived at the same time? And why, if modern humans share a single prehistoric ancestor, do we come in so many sizes, shapes, and races? Showing how the secrets about our ancestors are hidden in our genetic code, Spencer Wells reveals how developments in the cutting-edge science of population genetics have made it possible to create a family tree for the whole of humanity. We now know not only where our ancestors lived but who they fought, loved, and influenced. Informed by this new science, The Journey of Man is replete with astonishing information. Wells tells us that we can trace our origins back to a single Adam and Eve, but that Eve came first by some 80,000 years. We hear how the male Y-chromosome has been used to trace the spread of humanity from Africa into Eurasia, why differing racial types emerged when mountain ranges split population groups, and that the San Bushmen of the Kalahari have some of the oldest genetic markers in the world. We learn, finally with absolute certainty, that Neanderthals are not our ancestors and that the entire genetic diversity of Native Americans can be accounted for by just ten individuals. It is an enthralling, epic tour through the history and development of early humankind--as well as an accessible look at the analysis of human genetics that is giving us definitive answers to questions we have asked for centuries, questions now more compelling than ever.

The living world runs on genomic software - what Dawn Field and Neil Davies call the 'biocode' - the sum of all DNA on Earth. In Biocode, they tell the story of a new age of scientific discovery: the growing global effort to read and map the biocode, and what that might mean for the future. The structure of DNA was identified in 1953, and the whole human genome was mapped by 2003. Since then the new field of genomics has mushroomed and is now operating on an industrial scale. Genomes can now be sequenced rapidly and increasingly cheaply. The genomes of large numbers of organisms from mammals to microbes, have been mapped. Getting your genome sequenced is becoming affordable for many. You too can check paternity, find out where your ancestors came from, or whether you are at risk of some diseases. Some check out the pedigree of their pets, while others turn genomes into art. A stray hair is enough to crudely reconstruct the face of the owner. From reading to constructing: the first steps to creating artificial life have already been taken. Some may find the rapidity of developments, and the potential for misuse, alarming. But they also open up unprecedented possibilities. The ability to read DNA has changed how we view ourselves and understand our place in nature. From the largest oceans, to the insides of our guts, we are able to explore the biosphere as never before, from the genome up. Sequencing technology has made the invisible world of microbes visible, and biodiversity genomics is revealing whole new worlds within us and without. The findings are transformational: we are all ecosystems now. Already the first efforts at 'barcoding' entire ecological communities and creating 'genomic observatories' have begun. The future, the authors argue, will involve biocoding the entire planet.

Through this book, researchers and students will learn to use R for analysis of large-scale genomic data and how to create routines to automate analytical steps. The philosophy behind the book is to start with real world raw datasets and perform all the analytical steps needed to reach final results. Though theory plays an important role, this is a practical book for graduate and undergraduate courses in bioinformatics and genomic analysis or for use in lab sessions. How to handle and manage high-throughput genomic data, create automated workflows and speed up analyses in R is also taught. A wide range of R packages useful for working with genomic data are illustrated with practical examples. The key topics covered are association studies, genomic prediction, estimation of population genetic parameters and diversity, gene expression analysis, functional annotation of results using publically available databases and how to work efficiently in R with large genomic datasets. Important principles are demonstrated and illustrated through engaging examples which invite the reader to work with the provided datasets. Some methods that are discussed in this volume include: signatures of selection, population parameters (LD, FST, FIS, etc); use of a genomic relationship matrix for population diversity studies; use of SNP data for parentage testing; snpBLUP and gBLUP for genomic prediction. Step-by-step, all the R code required for a genome-wide association study is shown: starting from raw SNP data, how to build databases to handle and manage the data, quality control and filtering measures, association testing and evaluation of results, through to identification and functional annotation of candidate genes. Similarly, gene expression analyses are shown using microarray and RNAseq data. At a time when genomic data is decidedly big, the skills from this book are critical. In recent years R has become the de facto< tool for analysis of gene expression data, in addition to its prominent role in analysis of genomic data. Benefits to using R include the integrated development environment for analysis, flexibility and control of the analytic workflow. Included topics are core components of advanced undergraduate and graduate classes in bioinformatics, genomics and statistical genetics. This book is also designed to be used by students in computer science and statistics who want to learn the practical aspects of genomic analysis without delving into algorithmic details. The datasets used throughout the book may be downloaded from the publisher's website.