The structure of DNA varies along its sequence, which can lead to sequence-dependent variations in the fidelity of DNA copying and repair. And because the probability of distinct classes of mutations varies along a DNA sequence, variation that affects fitness will have evolutionary implications, as selection acts on heritable variation.

This Annals volume brings together a broad interdisciplinary group of researchers to explore the impact of increasing understanding of DNA structure, repair, replication, and organization on interrelated subjects ranging from evolution, to dependence of the effect of mutagens on environmental and sequence context, to noncanonical forms of information representation in genomes.

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'A most moving and important biography, as well as an impressive account of a major event in the history of science'
Lewis Wolpert, 'Literary Review'

Although Rosalind Franklin took the crucial photograph of DNA revealing its double helix structure, her work was overlooked when, four years after her death, three men – Maurice Wilkins of King's College London, Francis Crick of the Cavendish Laboratory and James Watson of Cambridge – were awarded the Nobel Prize for the discovery of DNA.

In this compelling biography of Franklin, Brenda Maddox tells the story of a remarkably single-minded, forthright and tempestuous young woman, who at the age of fifteen decided she wanted to be a scientist, but who was airbrushed out of the greatest scientific discovery of the twentieth century.

'Maddox is a dab hand at drawing a heroine out from behind the long shadows cast by men and her Franklin emerges as a determined, combative woman – a perfectionist who is plagued with self doubt'
Vanessa Thorpe, 'Observer'

'This magnificent biography gives a gripping yet nuanced account that resists the stock story-line of Franklin as the wronged heroine. What really happened is far more intriguing.'
Gail Vines, 'Independent'

'An exhilarating and vivid tale of scientific and personal politics at a time of rapid change in British science.'
Jane Gregory, 'New Scientist'

In Managing Health in the Genomic Era: A Guide to Family Health History and Disease Risk, Drs. Vincent C. Henrich, Lori A. Orlando, and Brian H. Shirts discuss the practical considerations surrounding the use of genomic and genetic tests to manage patient health, to provide adult disease risk assessment, to improve diagnosis, and to support effective interventions and treatment. In 10 chapters, evidence-based information and case studies are described and examine the central place of family health history (FHH) in genomic medicine, tools and strategies for compiling and analyzing family health history, how to identify existing and novel genetic markers, how to identify lineage specific (or rare) variants within families, and how to find effective interventions based on genetic testing results and FHH. Factors that influence clinical practice, including gene-environment interactions, FHH social networking, direct to consumer (DTC) genetic testing and data sharing, algorithms for analyzing genetic data, and patient counseling are discussed from the standpoint of clinical practice. Here, frontline healthcare providers will discover succinct commentary and key examples to assist with their local needs. Relevant principles of genetic biology and inheritance are explored and guidance on available support networks and online resources is also provided.

Ancient DNA refers to DNA which can be recovered and analyzed from clinical, museum, archaeological and paleontological specimens. Ancient DNA ranges in age from less than 100 years to tens of millions of years. The study of ancient DNA is a young field, but it has been revolutionized by the application of polymerase chain reaction technology, and interest is growing very rapidly. Fields as diverse as evolution, anthropology, medicine, agriculture, and even law enforcement have quickly found applications in the recovery of ancient DNA. This book contains contributions from many of the "first generation" researchers who pioneered the development and application of ancient DNA methods. Their chapters present the protocols and precautions which have resulted in the remarkable results obtained in recent years. The range of subjects reflects the wide diversity of applications that are emerging in research on ancient DNA, including the study of DNA to analyze kinship, recovery of DNA from organisms trapped in amber, ancient DNA from human remains preserved in a variety of locations and conditions, DNA recovered from herbarium and museum specimens, and DNA isolated from ancient plant seeds or compression fossils. Ancient DNA will serve as a valuable source of information, ideas, and protocols for anyone interested in this extraordinary field.

Evaluating the Statistical Significance of Multiple Distinct Local Alignments; S.F. Altscul. Hidden Markov Models for Human Genes: Periodic Patterns in Exon Sequence; S. Brunak. Identification of Muscle-Specific Transcriptional Regulatory Regions; J.W. Fickett. A Systematic Analysis of Gene Functions by the Metabolic Pathway Database; M. Kanehisa. Polymer Dynamics of DNA, Chromatin and Chromosomes; J. Langowski. Is Whole Human Genome Sequencing Feasible?; E.W. Myers. Sequence patterns Diagnostic of Structure and Function; T.F. Smith. Recognizing Functional Domains in Biological Sequences; G.D. Stormo. Stochastic Modelling in Molecular Genetics; P. Tautu. The Integrated Genomic Database (IGD): Enhancing the Productivity of Gene Mapping Projects; S.P. Bryant. Error Analysis of Genetic Linkage Data; R. Cottingham. Managing Accelerating Data Growth in the Genome Database; K.H. Fasman. Advances in Statistical Methods for Linkage Analysis; D.E. Weeks. Exploring Heterogeneous Molecular Biology Databases in the Context of the Object-Protocol Model; V.M. Markowitz. Comprehensive Genome Information Systems; O. Ritter. Visualizing the Genome; D.B. Searls. Data Management for Ligand-Based Drug Design; K. Aberer. 7 Additional Articles. Index.

Sports, Exercise, and Nutritional Genomics: Current Status and Future Directions is the first reference volume to offer a holistic examination of omics-driven advances across different aspects of exercise and sports physiology, biochemistry, sports medicine, psychology, anthropology, and sports nutrition; and highlighting the opportunities towards advance personalized training and athlete health management. More than 70 international experts from 14 countries have discussed key exercise and sport-related themes through the prism of genomics, epigenomics, transcriptomics, proteomics, metabolomics, telomere biology, talent in sport, individual differences in response to regular physical activity, that in the future may empower coaches, sports physicians, fitness experts, genetic counselors, and translational scientists to employ various omics data and approaches in improving health and physical performance of people participating in sports and exercise activities. Contributors address current knowledge of genetic influence on athletic performance, individual responses to exercise training, as well as the genetics of musculoskeletal phenotypes, exercise-related injuries, flexibility, and neurodegenerative disorders in athletes. Finally, performance-related and psychological traits associated with epigenetic, transcriptomic and metagenomic biomarkers are also considered, along with nutritional and pharmacogenomic aids in sports medicine and personalized nutrition.

This is an introductory text and laboratory manual to be used primarily in undergraduate courses. It is also useful for graduate students and research scientists who require an introduction to the theory and methods of nanopore sequencing. The book has clear explanations of the principles of this emerging technology, together with instructional material written by experts that describes how to use a MinION nanopore instrument for sequencing in research or the classroom.At Harvard University the book serves as a textbook and lab manual for a university laboratory course designed to intensify the intellectual experience of incoming undergraduates while exploring biology as a field of concentration. Nanopore sequencing is an ideal topic as a path to encourage students about the range of courses they will take in Biology by pre-emptively addressing the complaint about having to take a course in Physics or Maths while majoring in Biology. The book addresses this complaint by concretely demonstrating the range of topics - from electricity to biochemistry, protein structure, molecular engineering, and informatics - that a student will have to master in subsequent courses if he or she is to become a scientist who truly understands what his or her biology instrument is measuring when investigating biological phenomena.

Pathological Specimens and Genomic Medicine - Emerging Issues surveys various fields and medical disciplines related to the implementation of the new field of genomic medicine. The book includes sections on specimen processing, the effects of tissue fixation and storage impact on downstream molecular assays, image analysis and its role in the pathology workflow, molecular evaluation of samples, and how to present data to clinicians. The book contains examples of cases where these innovative technologies are applied in the real world, and also presents a look in to the future of the field of genomic medicine.

Until recently, bacteria were frequently depicted as "bags of enzymes" in which proteins and DNA were distributed relatively haphazardly compared with animal and plant cells. Research performed over the past decade has revolutionized our understanding of bacterial cells, however, revealing that they are in fact highly organized and contain numerous subcompartments. Written and edited by experts in the field, this volume includes contributions discussing the three dimensional organization of the bacterial cell, various subcellular structures found in bacteria, membrane bounded organelles such as magnetosomes, and the organization of the cell membrane. Other chapters examine the recently identified bacterial cytoskeletal filaments which turn out to be remarkably similar to their eukaryotic counterparts as well as the roles of these filaments in morphogenesis and cytokinesis. Also covered are the extraordinary organization of the bacterial genome and the dynamic mechanisms that couple its replication and partitioning at cell division. In addition, the book reviews the various different multicellular structures bacteria can form, such as biofilms, along with new imaging techniques that promise to reveal even more about their subcellular machinery. It is thus of interest to microscopists and biochemists, as well as all microbiologists and cell biologists interested in how bacteria and other prokaryotes function.

The field of whole genome selection has quickly developed into the breeding methodology of the future. As efforts to map a wide variety of animal genomes have matured and full animal genomes are now available for many animal scientists and breeders are looking to apply these techniques to livestock production. Providing a comprehensive, forward-looking review of animal genomics, Genomic Selection in Animals provides coverage of genomic selection in a variety of economically important species including cattle, swine, and poultry. The historical foundations of genomic selection are followed by chapters that review and assess current techniques. The final chapter looks toward the future and what lies ahead for field as application of genomic selection becomes more widespread. A concise, useful summary of the field by one of the world s leading researchers, Genomic Selection in Animals fills an important gap in the literature of animal breeding and genomics.

Statisticians have met the need to test hundreds or thousands of genomics hypotheses simultaneously with novel empirical Bayes methods that combine advantages of traditional Bayesian and frequentist statistics. Techniques for estimating the local false discovery rate assign probabilities of differential gene expression, genetic association, etc. without requiring subjective prior distributions. This book brings these methods to scientists while keeping the mathematics at an elementary level. Readers will learn the fundamental concepts behind local false discovery rates, preparing them to analyze their own genomics data and to critically evaluate published genomics research. Key Features: * dice games and exercises, including one using interactive software, for teaching the concepts in the classroom * examples focusing on gene expression and on genetic association data and briefly covering metabolomics data and proteomics data * gradual introduction to the mathematical equations needed * how to choose between different methods of multiple hypothesis testing * how to convert the output of genomics hypothesis testing software to estimates of local false discovery rates * guidance through the minefield of current criticisms of p values * material on non-Bayesian prior p values and posterior p values not previously published

Unlock the secrets in your DNA!

Discover the answers to your family history mysteries using the most-cutting edge tool available. This plain-English guide is a one-stop resource for how to use DNA testing for genealogy. Inside, you'll find guidance on what DNA tests are available, plus the methodologies and pros and cons of the three major testing companies and advice on choosing the right test to answer your specific genealogy questions. And once you've taken a DNA test, this guide will demystify the often-overwhelming subject and explain how to interpret DNA test results, including how to understand ethnicity estimates and haplogroup designations, navigate suggested cousin matches, and use third-party tools like GEDmatch to further analyze your data. To give you a holistic view of genetic testing for ancestry, the book also discusses the ethics and future of genetic genealogy, as well as how adoptees and others who know little about their ancestry can especially benefit from DNA testing.

The book features:

• Colorful diagrams and expert definitions that explain key DNA terms and concepts such as haplogroups and DNA inheritance patterns
• Detailed guides to each of the major kinds of DNA tests and which tests can solve which family mysteries, with case studies showing how each can be useful
• Information about third-party tools you can use to more thoroughly analyze your test results once you've received them
• Test comparison guides and research forms to help you select the most appropriate DNA test and organize your results and research once you've been tested

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 field of forensic DNA analysis has grown immensely in the past two decades and genotyping of biological samples is now routinely performed in human identification (HID) laboratories. Application areas include paternity testing, forensic casework, family lineage studies, identification of human remains, and DNA databasing. Forensic DNA Analysis: Current Practices and Emerging Technologies explores the fundamental principles and the application of technologies for each aspect of forensic DNA analysis. The book begins by discussing the value of DNA evidence and how to properly recognize, document, collect, and store it. The remaining chapters examine: The most widely adopted methods and the best practices for DNA isolation from forensic biological samples and human remains Studies carried out on the use of both messenger RNA and small (micro) RNA profiling Real-time polymerase chain reaction (PCR) methods for quantification and assessment of human DNA prior to genotyping Capillary electrophoresis (CE) as a tool for forensic DNA analysis Next-generation short tandem repeat (STR) genotyping kits for forensic applications, the biological nature of STR loci, and Y-chromosome STRs (Y-STRs) Mitochondrial DNA (mtDNA) sequence analysis Single nucleotide polymorphisms (SNPs) and insertion/deletion polymorphisms (indels) in typing highly degraded DNA Deep-sequencing technologies The current state of integrated systems in forensic DNA analysis The book concludes by discussing various aspects of sample-processing training and the entities that provide such training programs. This volume is an essential resource for students, researchers, teaching faculties, and other professionals interested in human identification/forensic DNA analysis.

With the advent of new technologies and acquired knowledge, the number of fields in omics and their applications in diverse areas are rapidly increasing in the postgenomics era. Such emerging fields-including pharmacogenomics, toxicogenomics, regulomics, spliceomics, metagenomics, and environomics-present budding solutions to combat global challenges in biomedicine, agriculture, and the environment. OMICS: Applications in Biomedical, Agricultural, and Environmental Sciences provides valuable insights into the applications of modern omics technologies to real-world problems in the life sciences. Filling a gap in the literature, it offers a broad, multidisciplinary view of current and emerging applications of omics in a single volume. Written by highly experienced active researchers, each chapter describes a particular area of omics and the associated technologies and applications. Topics covered include: Proteomics, epigenomics, and pharmacogenomics Toxicogenomics and the assessment of environmental pollutants Applications of plant metabolomics Nutrigenomics and its therapeutic applications Microalgal omics and omics approaches in biofuel production Next-generation sequencing and omics technology for transgenic plant analysis Omics approaches in crop improvement Engineering dark-operative chlorophyll synthesis Computational regulomics Omics techniques for the analysis of RNA splicing New fields, including metagenomics, glycomics, and miRNA Breast cancer biomarkers for early detection Environomics strategies for environmental sustainability This timely book explores a wide range of omics application areas in the biomedical, agricultural, and environmental sciences. Throughout, it highlights working solutions as well as open problems and future challenges. Demonstrating the diversity of omics, it introduces readers to state-of-the-art developments and trends in omics-driven research.

RNA interference (RNAi) has the potential to make major contributions towards sustainable crop production and protection with minimal environmental impacts compared to other technologies. RNAi is being developed and exploited both within plants (i.e. host-induced gene silencing, HIGS) and/or as topical applications (e.g. spray-induced gene silencing, SIGS) for targeting pest and pathogen genes and for manipulating endogenous gene expression in plants. Chapters by international experts review current knowledge on RNAi, methods for developing RNAi systems in GM plants and applications for crop improvement, crop production and crop protection. Chapters examine both endogenous systems in GM plants and exogenous systems where interfering RNAs are applied to target plants, pests and pathogens. The biosafety of these different systems is examined and methods for risk assessment for food, feed and environmental safety are discussed. Finally, aspects of the regulation of technologies exploiting RNAi and the socio-economic impacts of RNAi technologies are discussed.

Information is central to the evolution of biological complexity, a physical system relying on a continuous supply of energy. Biology provides superb examples of the consequent Darwinian selection of mechanisms for efficient energy utilisation. Genetic information, underpinned by the Watson-Crick base-pairing rules is largely encoded by DNA, a molecule uniquely adapted to its roles in information storage and utilisation.This volume addresses two fundamental questions. Firstly, what properties of the molecule have enabled it to become the predominant genetic material in the biological world today and secondly, to what extent have the informational properties of the molecule contributed to the expansion of biological diversity and the stability of ecosystems. The author argues that bringing these two seemingly unrelated topics together enables Schroedinger's What is Life?, published before the structure of DNA was known, to be revisited and his ideas examined in the context of our current biological understanding.

The field of materials science and technology has undergone revolutionary advances due to the development of novel analytical tools, functional materials, and multidisciplinary approaches to engineering. Additionally, theoretical predictions combined with increasingly improved models and computational capabilities are making impressive contributions to the progress of materials science and technology. In particular, the materials science of DNA has emerged as a vital area of research and is expected to immensely broaden the horizon of material science and nanotechnology in this century. Materials Science of DNA highlights the most important subjects and perspectives in the field, with the aim of stimulating the interdisciplinary community and bringing this intensively interesting, emerging field of molecular-scale materials science to maturation. The editors have not only been involved in the research of materials science of DNA for the past decade, but also lead the series of International Biotronics Workshops supported by the US Air Force Research Laboratory. Biotechnology and DNA-based biopolymers are not only applicable for genomic sequencing and clinical diagnosis and treatment, but can also have a major impact on nonbiotech applications-such as electronics and photonics- opening up a whole new field for bioengineering. New concepts and insights gained from DNA research are expected to prove genuinely useful in a variety of devices in nano, micro, and macro dimensions in the future. Where silicon has been the building block of inorganic electronics and photonics, DNA holds promise to become the building block for organic electronics and photonics.

Providing an interface between dry-bench bioinformaticians and wet-lab biologists, DNA Methylation Microarrays: "Experimental Design and Statistical Analysis" presents the statistical methods and tools to analyze high-throughput epigenomic data, in particular, DNA methylation microarray data. Since these microarrays share the same underlying principles as gene expression microarrays, many of the analyses in the text also apply to microarray-based gene expression and histone modification (ChIP-on-chip) studies.

After introducing basic statistics, the book describes wet-bench technologies that produce the data for analysis and explains how to preprocess the data to remove systematic artifacts resulting from measurement imperfections. It then explores differential methylation and genomic tiling arrays. Focusing on exploratory data analysis, the next several chapters show how cluster and network analyses can link the functions and roles of unannotated DNA elements with known ones. The book concludes by surveying the open source software (R and Bioconductor), public databases, and other online resources available for microarray research.

Requiring only limited knowledge of statistics and programming, this book helps readers gain a solid understanding of the methodological foundations of DNA microarray analysis.

Growing evidence suggests that epigenetic mechanisms play a central role in stem cell biology and are vital for determining gene expression during cellular differentiation and governing mammalian development. In Stem Cell Epigenetics, leading international researchers examine how chromatin regulation and bona fide epigenetic mechanisms underlie stem cell renewal and differentiation. Authors also explore how the diversity of cell types, including the extent revealed by single cell omic approaches, is achieved, and how such processes may be reversed or managed via epigenetic reprogramming. Topics discussed include chromatin in pluripotency, stem cells and DNA methylation, histone modifications in stem cells and differentiation, higher-order chromatin conformation in pluripotent cells, stem cells and cancer, epigenetics and disease modeling, brain organoids from pluripotent cells, transcriptional regulation in stem cells and differentiation, non-coding RNAs in pluripotency and early differentiation, and diseases caused by epigenetic alterations in stem cells. Additionally, the book discusses the potential implementation of stem cell epigenetics in drug discovery, regenerative medicine, and disease treatment. Stem Cell Epigenetics will provide researchers and physicians with a state-of-the-art map to orient across the frontiers of this fast-evolving field.

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.

The Compact Guide: DNA provides a fascinating look at the world of the double helix and examines who we are, how we're wired, and how we repair ourselves. With information on so-called 'junk' DNA, how our genes evolved, heritability, the genetics of neuroscience, viruses, disease and what happens when things go wrong, this is a beautiful, visual journey through the polymer chain. The Compact Guide: DNA is an engaging and essential read for anyone captivated by the scope of human discovery, and reveals how we might just uncover the answers to the secrets of life on Earth.

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.

Race, while drawn from the visual cues of human diversity, is an idea with a measurable past, an identifiable present, and an uncertain future. The concept of race has been at the center of both triumphs and tragedies in American history and has had a profound effect on the human experience. Race Unmasked revisits the origins of commonly held beliefs about the scientific nature of racial differences, examines the roots of the modern idea of race, and explains why race continues to generate controversy as a tool of classification even in our genomic age. Surveying the work of some of the twentieth century's most notable scientists, Race Unmasked reveals how genetics and related biological disciplines formed and preserved ideas of race and, at times, racism. A gripping history of science and scientists, Race Unmasked elucidates the limitations of a racial worldview and throws the contours of our current and evolving understanding of human diversity into sharp relief.

This up-to-date review of seed genomics, from basic seed biology to practical applications in crop science, provides a thorough background understanding of seed biology from a basic science perspective. A valuable resource for advanced graduate students, post-docs, researchers and professionals in the Plant and Crop Sciences, this book brings together top researchers in the field to cover three general themes: genomic approaches to studying seeds, genomic analysis of basic seed biology, and crop seed genomics.A valuable resource for advanced graduate students, post-docs, researchers and professionals in the Plant and Crop Sciences