Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine.

Inflammation is a biological response triggered by different stimuli that has in the body a potentially damaging effect. In certain conditions, such as injury or infection, inflammation is a normal, healthy response. However, inflammatory disorders that result in the immune system attacking the body's own cells or tissues may cause abnormal inflammation, which results in chronic pain, redness, swelling, stiffness, and damage to normal tissues. Mechanisms involved in promoting a number of different inflammatory disorders and their targeting for therapeutic benefit have been one of the hottest topics in last few decades. The two consecutive volumes (119 and 120) dedicated to this subject cover a wide spectrum of inflammatory disorders, mechanisms that are believed to cause them and different strategies for managing the inflammatory diseases.

This book adopts an experimental approach to understanding the mechanisms of evolution and the nature of evolutionary processes, with examples drawn from microbial, plant and animal systems. It incorporates insights from remarkable recent advances in theoretical modeling, and the fields of molecular genetics and environmental genomics.
Adaptation is caused by selection continually winnowing the genetic variation created by mutation. In the last decade, our knowledge of how selection operates on populations in the field and in the laboratory has increased enormously, and the principal aim of this book is to provide an up-to-date account of selection as the principal agent of evolution. In the classical Fisherian model, weak selection acting on many genes of small effect over long periods of time is responsible for driving slow and gradual change. However, it is now clear that adaptation in laboratory populations often involves strong selection acting on a few genes of large effect, while in the wild selection is often strong and highly variable in space and time. Indeed these results are changing our perception of how evolutionary change takes place. This book summarizes our current understanding of the causes and consequences of selection, with an emphasis on quantitative and experimental studies. It includes the latest research into experimental evolution, natural selection in the wild, artificial selection, selfish genetic elements, selection in social contexts, sexual selection, and speciation.
Selection: The Mechanism of Evolution is an advanced textbook suitable for senior undergraduate and graduate students taking courses in evolutionary biology, ecology, populationgenetics, and experimental evolution. It will also be a valuable reference tool for those professional researchers in these fields requiring an authoritative and up-to-date overview of the topic, as well as providing an accessible treatment of evolutionary mechanisms for molecular and cellular biologists.

The purpose of this primer is to provide students, teachers as well as academic and industry researchers with a succinct account of the chemical and structural features of chromatin and the role that these features play in the maintenance and function of the genetic material.It is universally accepted that DNA is the carrier of the genetic information that is transmitted from parents to their offspring and that it is responsible for the anatomy, physiology and behavior of all individuals throughout development and adult life. Yet, how this information is retrieved and used selectively to allow a fertilized egg to become an organism made up of myriads of different cells and tissues is not as evident and easily understood.Dr Lucchesi, an internationally known researcher and teacher, provides an easily opened window into the role that the complex of proteins and nucleic acids that are associated with the DNA play in mediating gene expression and in responding to environmental circumstances.

The purpose of this primer is to provide students, teachers as well as academic and industry researchers with a succinct account of the chemical and structural features of chromatin and the role that these features play in the maintenance and function of the genetic material.It is universally accepted that DNA is the carrier of the genetic information that is transmitted from parents to their offspring and that it is responsible for the anatomy, physiology and behavior of all individuals throughout development and adult life. Yet, how this information is retrieved and used selectively to allow a fertilized egg to become an organism made up of myriads of different cells and tissues is not as evident and easily understood.Dr Lucchesi, an internationally known researcher and teacher, provides an easily opened window into the role that the complex of proteins and nucleic acids that are associated with the DNA play in mediating gene expression and in responding to environmental circumstances.

Macromolecular Crystallography is the study of macromolecules (proteins and nucleic acids) using X-ray crystallographic techniques in order to determine their molecular structure. The knowledge of accurate molecular structures is a pre-requisite for rational drug design, and for structure-based function studies to aid the development of effective therapeutic agents and drugs. The successful determination of the complete genome (genetic sequence) of several species (including humans) has recently directed scientific attention towards identifying the structure and function of the complete complement of proteins that make up that species; a new and rapidly growing field of study called 'structural genomics'. There are now several important and well-funded global initiatives in operation to identify all of the proteins of key model species. One of the main requirements for these initiatives is a high-throughput crystallization facility to speed-up the protein identification process. The extent to which these technologies have advanced, calls for an updated review of current crystallographic theory and practice. This practical reference book features the latest conventional and high-throughput methods, and includes contributions from a team of internationally recognized leaders and experts. It will be of relevance and use to graduate students, research scientists and professionals currently working in the field of conventional and high-throughput macromolecular crystallography.

The broad arc of islands north of Australia that extends from Indonesia east towards the central Pacific is home to a set of human populations whose concentration of diversity is unequaled elsewhere. Approximately 20% of the worlds languages are spoken here, and the biological and genetic heterogeneity among the groups is extraordinary. Anthropologist W.W. Howells once declared diversity in the region so Protean as to defy analysis. However, this book can now claim considerable success in describing and understanding the origins of the genetic and linguistic variation there. In order to cut through this biological knot, the authors have applied a comprehensive battery of genetic analyses to an intensively sampled set of populations, and have subjected these and complementary linguistic data to a variety of phylogenetic analyses. This has revealed a number of heretofore unknown ancient Pleistocene genetic variants that are only found in these island populations, and has also identified the genetic footprints of more recent migrants from Southeast Asia who were the ancestors of the Polynesians. The book lays out the very complex structure of the variation within and among the islands in this relatively small region, and a number of explanatory models are tested to see which best account for the observed pattern of genetic variation here. The results suggest that a number of commonly used models of evolutionary divergence are overly simple in their assumptions, and that often human diversity has accumulated in very complex ways.

This volume focuses on mono-ADP-ribosylation and enzymes that use NAD+ including Sirtuins, PARPs, and bacterial and eukaryotic ADP-ribosyltransferases. The chapters in this book are organized into eight parts, and offer detailed descriptions of key protocols used to study topics such as in vitro techniques for ADP-ribosylation substrate identification; biochemical and biophysical assays of PAR-WWE domain interactions; monitoring expression and enzyme activity of ecto-ARTCs; HPLC-based enzymes assays for Sirtuins; and identifying target RNAs of PARPs. 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. Cutting-edge and thorough, ADP-ribosylation and NAD+ Utilizing Enzymes: Methods and Protocols is a valuable resource for anyone interested in this developing and expanding field.

Gene duplication has long been believed to have played a major role in the rise of biological novelty through evolution of new function and gene expression patterns. The first book to examine gene duplication across all levels of biological organization, "Evolution after Gene Duplication" presents a comprehensive picture of the mechanistic process by which gene duplication may have played a role in generating biodiversity.

Key Features: Explores comparative genomics, genome evolution studies and analysis of multi-gene families such as "Hox," globins, olfactory receptors and MHC (immune system)A complete post-genome treatment of the topic originally covered by Ohno's 1970 classic, this volume extends coverage to include the fate of associated regulatory pathwaysTaps the significant increase in multi-gene family data that has resulted from comparative genomicsComprehensive coverage that includes opposing theoretical viewpoints, comparative genomics data, theoretical and empirical evidence and the role of bioinformatics in the study of gene duplication

This up-to-date overview of theory and mathematical models along with practical examples is suitable for scientists across various levels of biology as well as instructors and graduate students.

The contents of this book focus on the recent investigations in molecular bi- ogywhereapplicationsoftopologyseemtobeverystimulating. Thevolumeis based on the talks and lectures given by participants of the three-month p- gram"TopologyinCondensedMatter,"whichwasheldintheMaxPlanck- stitut fur Physik komplexer Systeme, Dresden, Germany, 8May-31July 2002, under the scienti?c direction of Professors M. Kl eman, S. Novikov and - self. The aim of this program was to discuss recent applications of topology to several areas in condensed matter physics and molecular biology. The ?rst volume "Topology in Condensed Matter" is concerned with m- ern applications of geometrical and topological techniques to such new and classic ?elds of physics like electron theory of metals, theory of nano-crystals, aperiodic and liquid crystals, quantum computation and so on. This volume is published simultaneously in "Springer Series in Solid-State Physics." The present volume gives an exposition of the role of topology in the theory of proteins and DNA. The last thirty years a?rmed very e?cient - plications of modern mathematics, especially topology, in physics. The union of mathematics and physics was very stimulating for both sides. On the other hand, the impact of mathematics in biology has been rather limited. H- ever here also some interesting results were obtained. In particular, there are applications of knot theory in the theory of circular closed DNA. The - cent discoveries in molecular biology indicate future successful applications of topology."

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine.

This volume presents a series of protocols and methods, some of which are not widely used by researchers/practitioners, and will aid in the execution of different laboratory techniques. Forensic DNA Typing Protocols, Second Edition is arranged into a series of related chapters. Chapter 1-3 examines two different aspects of RNA analysis for body fluid identification. Chapters 4-7 focuses on the storage of biological materials and the extraction of DNA from hard tissues. Chapters 8-10 present methods for monitoring the quality of DNA extracts, and steps to aid in the purification of DNA. Chapters 11-16 talk about methods on non-standard markers, such as INDELs, Y chromosome STRs, and mitochondrial DNA. Detailed procedures and data analysis for phenotypes and ancestry are explored in Chapter 17-19. The last chapter (20) looks at the application of DNA typing to the identification of non-human material to species level. 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. Practical and thorough, Forensic DNA Typing Protocols, Second Edition, is a valuable resource for forensic specialists, researchers, and anyone interested in the field of forensic science.

Recent advances in understanding the thermodynamics of macromolecules, the topological properties of gene networks, the organization and mutation capabilities of genomes, and the structure of populations make it possible to incorporate these key elements into a broader and deeply interdisciplinary view of molecular evolution. This book gives an account of such a new approach, through clear tutorial contributions by leading scientists.

This meticulous book explores the leading methodologies, techniques, and tools for microarray data analysis, given the difficulty of harnessing the enormous amount of data. The book includes examples and code in R, requiring only an introductory computer science understanding, and the structure and the presentation of the chapters make it suitable for use in bioinformatics courses. Written for the highly successful Methods in Molecular Biology series, chapters include the kind of key detail and expert implementation advice that ensures successful results and reproducibility. Authoritative and practical, Microarray Data Analysis is an ideal guide for students or researchers who need to learn the main research topics and practitioners who continue to work with microarray datasets.

Updated and revised, this thorough volume covers a range of methods focusing on systems, including mammalian, yeast, bacterial and archaeal. This second edition of DNA Replication: Methods and Protocols describes approaches to analyze whole genomes to single molecules, as well as both in vivo and in vitro experiments. As a volume in the highly successful Methods in Molecular Biology series, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, DNA Replication: Methods and Protocols, Second Edition provides a collections of methods intended for newcomers to this research field and for established laboratories.

Translational Bioinformatics and Systems Biology Methods for Personalized Medicine introduces integrative approaches in translational bioinformatics and systems biology to support the practice of personalized, precision, predictive, preventive, and participatory medicine. Through the description of important cutting-edge technologies in bioinformatics and systems biology, readers may gain an essential understanding of state-of-the-art methodologies. The book discusses topics such as the challenges and tasks in translational bioinformatics; pharmacogenomics, systems biology, and personalized medicine; and the applicability of translational bioinformatics for biomarker discovery, epigenomics, and molecular dynamics. It also discusses data integration and mining, immunoinformatics, and neuroinformatics. With broad coverage of both basic scientific and clinical applications, this book is suitable for a wide range of readers who may not be scientists but who are also interested in the practice of personalized medicine.

This volume expands on statistical analysis of genomic data by discussing cross-cutting groundwork material, public data repositories, common applications, and representative tools for operating on genomic data. Statistical Genomics: Methods and Protocols is divided into four sections. The first section discusses overview material and resources that can be applied across topics mentioned throughout the book. The second section covers prominent public repositories for genomic data. The third section presents several different biological applications of statistical genomics, and the fourth section highlights software tools that can be used to facilitate ad-hoc analysis and data integration. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, step-by-step, readily reproducible analysis protocols, and tips on troubleshooting and avoiding known pitfalls. Through and practical, Statistical Genomics: Methods and Protocols, explores a range of both applications and tools and is ideal for anyone interested in the statistical analysis of genomic data.

This thorough introductory volume presents the background, applications, and stepwise directions for standard DNA and RNA isolation techniques. Unlike a kit chemistry approach, this book provides a breadth of information necessary for junior or non-expert researchers to learn and apply these techniques in their work. An accessible, indispensable how-to guide for researchers in immunology, molecular biology, zoology, forensic science, genetics, botany, neuroscience, physiology, and others.

Metagenomics has taken off as one of the major cutting-edge fields of research. The field has broad implications for human health and disease, animal production and environmental health. Metagenomics has opened up a wealth of data, tools, technologies and applications that allow us to access the majority of organisms that we still cannot access in pure culture (an estimated 99% of microbial life). Numerous research groups are developing tools, approaches and applications to deal with this new field, as larger data sets from environments including the human body, the oceans and soils are being generated. See for example the human microbiome initiative (HMP) which has become a world-wide effort and the Global Ocean Sampling (GOS) surveys. The number of publications as measured through PubMed that are focused on metagenomics continues to increase. The field of metagenomics continues to evolve with large common datasets available to the scientific community. A concerted effort is needed to collate all this information in a centralized place. By having all the information in an Encyclopedia form, we have an opportunity to gather seminal contributions from the leaders in the field, and at the same time provide this information to a significant number of junior and senior scientists. It is anticipated that the Encyclopedia will also be used by many other groups including, clinicians, undergraduate and graduate level students, as well as ethical and legal groups associated with or interested in the issues surrounding metagenome science.

This book describes how genomics has revolutionized our scientific understanding of agriculturally important plant-associated bacteria. Each chapter focuses on the genomics of particular bacteria: the first described plant pathogen, "Erwinia amylovora"; phytoplasmas lacking cell walls; fastidious, phloem-restricted liberibacters; "Pseudomonas syringae," which is a genetically tractable model system; "Xanthomonas citri," which causes a disease that can devastate citrus crops and "Pseudomonas fluorescens," which can protect plants from diseases.

Topics considered in this volume include the importance of horizontal gene transfer in originating new bacterial strains and species and advances in transcriptomics that allow us to describe the complex regulatory networks critical to plant-microbe interactions. The availability of the "Xanthomonas oryzae" genome has led to new technologies in genome editing, which will revolutionize approaches to genetic engineering, even in eukaryotes. The contributions show how genomics has greatly accelerated progress toward understanding the biology of these bacteria and how that understanding can be translated into novel crop protection methods.

Metagenomics has taken off as one of the major cutting-edge fields of research. The field has broad implications for human health and disease, animal production and environmental health. Metagenomics has opened up a wealth of data, tools, technologies and applications that allow us to access the majority of organisms that we still cannot access in pure culture (an estimated 99% of microbial life). Numerous research groups are developing tools, approaches and applications to deal with this new field, as larger data sets from environments including the human body, the oceans and soils are being generated. See for example the human microbiome initiative (HMP) which has become a world-wide effort and the Global Ocean Sampling (GOS) surveys. The number of publications as measured through PubMed that are focused on metagenomics continues to increase. The field of metagenomics continues to evolve with large common datasets available to the scientific community. A concerted effort is needed to collate all this information in a centralized place. By having all the information in an Encyclopedia form, we have an opportunity to receive seminal contributions from the leaders in the field and at the same time provide this information to a significant number of junior and senior scientists, via colleges, libraries, and just through online access. This format also allows scientists in the developing world to have continued access to this growing field. It is anticipated that the Encyclopedia will also be used by many other groups including, clinicians, undergraduate and graduate level students, as well as ethical and legal groups associated with or interested in the issues surrounding metagenome science.

The series Topics in Current Chemistry presents critical reviews of the present and future trends in modern chemical research. The scope of coverage is all areas of chemical science including the interfaces with related disciplines such as biology, medicine and materials science. The goal of each thematic volume is to give the non-specialist reader, whether in academia or industry, a comprehensive insight into an area where new research is emerging which is of interest to a larger scientific audience. Each review within the volume critically surveys one aspect of that topic and places it within the context of the volume as a whole. The most significant developments of the last 5 to 10 years are presented using selected examples to illustrate the principles discussed. The coverage is not intended to be an exhaustive summary of the field or include large quantities of data, but should rather be conceptual, concentrating on the methodological thinking that will allow the non-specialist reader to understand the information presented. Contributions also offer an outlook on potential future developments in the field. Review articles for the individual volumes are invited by the volume editors. Readership: research chemists at universities or in industry, graduate students.

This volume provides an overview on design PCR primers for successful DNA amplification. Chapters focus on primer design strategies for quantitative PCR, in silico PCR primer design, and primer design using software. 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 easily accessible, PCR Primer Design, Second Edition seeks to aid molecular biology students, researchers, professors and PCR enthusiasts.

Jac A. Nickoloff and Merl F. Hoekstra update and expand their two earlier acclaimed volumes (Vol. I: DNA Repair in Prokaryotes and Lower Eukaryotes and Vol. II: DNA Repair in Higher Eurkaryotes) with cutting-edge reviews by leading authorities of primary experimental findings about DNA repair processes in cancer biology. The reviews cover a wide range of topics from viruses and prokaryotes to higher eukaryotes, and include several new topics, among them the role of recombination in replication of damaged DNA, X-ray crystallographic analysis of DNA repair protein structures, DNA repair proteins and teleomere function, and the roles of BRCA1 and BRCA2 in DNA repair. Authoritative and up-to-date, DNA Damage and Repair, Vol. III: Advances from Phage to Humans surveys the rapidly moving research in DNA damage and repair, and explains the important functional relationships among different DNA repair pathways and the relationship between DNA repair pathways, cancer etiology, and cancer therapies.

Epigenetics of Exercise and Sports: Concepts, Methods, and Current Research explains fundamental epigenetic processes and how these are altered by exercise and sports. After a brief review of fundamental epigenetic biology, this all-new volume in the Translational Epigenetics series offers step-by-step instruction in how epigenetic factors are investigated for their influence over exercise related traits of human physiology, disease, and injury. The current state of knowledge in the field and recent findings are discussed in-depth, illuminating how exercise and sports performance may epigenetically modify our physiology, disease and injury risks, and how this knowledge can be applied in personalized exercise approaches, diagnostics, and treatment. This book also explores the shortcomings of explaining exercise related phenomena using only genomics and traditional biochemical techniques, setting the scene for a paradigm shift in exercise biology. In addition, over a dozen international specialists contribute chapters on exercise and sports epigenetics, and their influence over metabolism, obesity, aging, immunity, and neurological disease, as well as the epigenetic impacts of concussions and sports doping. A concluding chapter discusses ongoing themes in the field and outlooks for future research.