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.

DNA. The double helix; the blueprint of life; and, during the early 1950s, a baffling enigma that could win a Nobel Prize. Everyone knows that James Watson and Francis Crick discovered the double helix. In fact, they clicked into place the last piece of a huge jigsaw puzzle that other researchers had assembled over decades. Researchers like Maurice Wilkins (the 'Third Man of DNA') and Rosalind Franklin, famously demonised by Watson. Not forgetting the 'lost heroes' who fought to prove that DNA is the stuff of genes, only to be airbrushed out of history. In Unravelling the Double Helix, Professor Gareth Williams sets the record straight. He tells the story of DNA in the round, from its discovery in pus-soaked bandages in 1868 to the aftermath of Watson's best-seller The Double Helix a century later. You don't need to be a scientist to enjoy this book. It's a page-turner that unfolds like a detective story, with suspense, false leads and treachery, and a fabulous cast of noble heroes and back-stabbing villains. But beware: some of the science is dreadful, and the heroes and villains may not be the ones you expect.

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.

DNA ancestry companies generate revenues in the region of $1bn a year, and the company 23andMe is said to have sold 10 million DNA ancestry kits to date. Although evidently popular, the science behind how DNA ancestry tests work is mystifying and difficult for the general public to interpret and understand. In this accessible and engaging book, Sheldon Krimsky, a leading researcher, investigates the methods that different companies use for DNA ancestry testing. He also discusses what the tests are used for, from their application in criminal investigations to discovering missing relatives. With a lack of transparency from companies in sharing their data, absent validation of methods by independent scientists, and currently no agreed-upon standards of accuracy, this book also examines the ethical issues behind genetic genealogy testing, including concerns surrounding data privacy and security. It demystifies the art and science of DNA ancestry testing for the general reader.

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

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.

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.

Evolution is one of the most important processes in life. It not only explains the detailed history of life on earth, but its scope also extends into many aspects of our own contemporary behavior-who we are and how we got to be here, our psychology, our cultures-and greatly impacts modern advancements in medicine and conservation biology. Perhaps its most important claim for science is its ability to provide an overarching framework that integrates the many life sciences into a single unified whole. Yet, evolution-evolutionary biology in particular-has been, and continues to be, regarded with suspicion by many. Understanding how and why evolution works, and what it can tell us, is perhaps the single most important contribution to the public perception of science. This book provides an overview of the basic theory and showcases how widely its consequences reverberate across the life sciences, the social sciences and even the humanities. In this book, Robin Dunbar uses examples drawn from plant life, animals and humans to illustrate these processes. Evolutionary science has important advantages. Most of science deals with the microscopic world that we cannot see and invariably have difficulty understanding, but evolution deals with the macro-world in which we live and move. That invariably makes it much easier for the lay audience to appreciate, understand and enjoy. Evolution: What Everyone Needs to Know (R) takes a broad approach to evolution, dealing both with the core theory itself and its impact on different aspects of the world we live in, from the iconic debates of the nineteenth century, to viruses and superbugs, to human evolution and behavior.

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.

Richly illustrated in color, Statistics and Data Analysis for Microarrays Using R and Bioconductor, Second Edition provides a clear and rigorous description of powerful analysis techniques and algorithms for mining and interpreting biological information. Omitting tedious details, heavy formalisms, and cryptic notations, the text takes a hands-on, example-based approach that teaches students the basics of R and microarray technology as well as how to choose and apply the proper data analysis tool to specific problems. New to the Second EditionCompletely updated and double the size of its predecessor, this timely second edition replaces the commercial software with the open source R and Bioconductor environments. Fourteen new chapters cover such topics as the basic mechanisms of the cell, reliability and reproducibility issues in DNA microarrays, basic statistics and linear models in R, experiment design, multiple comparisons, quality control, data pre-processing and normalization, Gene Ontology analysis, pathway analysis, and machine learning techniques. Methods are illustrated with toy examples and real data and the R code for all routines is available on an accompanying downloadable resource. With all the necessary prerequisites included, this best-selling book guides students from very basic notions to advanced analysis techniques in R and Bioconductor. The first half of the text presents an overview of microarrays and the statistical elements that form the building blocks of any data analysis. The second half introduces the techniques most commonly used in the analysis of microarray data.

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.

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.

'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'

An invaluable resource for computational biologists and researchers from other fields seeking an introduction to the topic, Chromatin: Structure, Dynamics, Regulation offers comprehensive coverage of this dynamic interdisciplinary field, from the basics to the latest research. Computational methods from statistical physics and bioinformatics are detailed whenever possible without lengthy recourse to specialized techniques.

John Butler, bestselling author of Forensic DNA Typing, now applies his expertise on the subject of DNA analysis into an introductory textbook. Fundamentals of Forensic DNA Typing walks students step-by-step through the DNA analysis process beginning with collection of evidence at a crime scene to the statistical interpretation of the results. Also included are brief discussions of such news worthy topics as victim identification from the September 11, 2001 attacks, the identification of the remains of the Romanovs, the last Russian Royal family, and the O.J. Simpson case. New applications, such as genetic genealogy and tracing domestic pet hairs to perpetrators, are also detailed. With its clear and understandable style and extensive list of online ancillaries and study aids, this textbook will make the subject accessible to students in forensic science courses worldwide.
Includes a glossary with over 400 terms for quick reference of unfamiliar terms as well as an acronym guide to decipher the DNA dialectContinues in the style of Forensic DNA Typing, 2e, with high-profile cases addressed in D.N.A.Boxes-- "Data, Notes & Applications" sections throughoutAncillaries include: instructor manual Web site, with tailored set of 1000+ PowerPoint slides (including figures), links to online training websites and a test bank with key

This book combines linguistic and historical approaches with the latest techniques of DNA analysis and shows the insights these offer for every kind of genealogical research. It focuses on British names, tracing their origins to different parts of the British Isles and Europe and revealing how names often remain concentrated in the districts where they first became established centuries ago. In the process the book casts fresh light on the ancient peopling of the British Isles. The authors consider why some names die out while others spread across the globe. They use recent advances in DNA testing to investigate whether particular surnames have single, dual, or multiple origins, and to find out if the various forms of a single name have a common origin. They show how information from DNA can be combined with historical evidence and techniques to distinguish between individuals with the same name and different names with similar spellings, and to identifty the name of the same individual or family spelt in various ways in different times and places. The final chapter of this paperback edition, looking at the use of genetics in historical research, has been updated to include new work on the DNA of Richard III.

Population genetics is an inherently quantitative discipline, yet often focuses upon abstract concepts which can be difficult to conceptualize and appropriately visualize at first glance. This book focuses on applying the hugely popular R software specifically to the field, offering an accessible, step-by-step guide to tackling the challenges of achieving effective data interpretation and summary. The authors adopt an engaging "learning by doing" approach that will enable readers to develop an intuitive understanding of key population genetics concepts through the use of R. Beginning with the groundwork of installing and using R (including CRAN and the RStudio IDE), the book works through the use of basic commands for data manipulation. An introduction to basic terminology in population genetics follows, clearly explaining how these fundamental assumptions can provide insights and form basic inferences for real populations. The focus then moves onto statistical tests including writing and running algorithms as functions. Subsequent chapters examine genetic variation, adaptation, and natural selection as well as different approaches to population differences. Importantly, the accompanying set of practical exercises demonstrate that implementing all of these concepts via programming can actually help greatly in understanding them, even if they may at first seem insurmountably complex. Finally, this accessible textbook points the way forwards to other key concepts that are important to understanding modern day population genetics research (in particular coalescent theory) and offers the reader useful launching points for further learning. Population Genetics with R is aimed at students ranging from undergraduate to postgraduate level in the fields of population genetics, ecology, evolutionary biology, conservation genetics, computational biology, and biostatistics.

This book combines linguistic and historical approaches with the latest techniques of DNA analysis and show the insights these offer for every kind of genealogical research. It focuses on British names, tracing their origins to different parts of the British Isles and Europe and revealing how names often remain concentrated in the districts where they first became established centuries ago. In the process the book casts fresh light on the ancient peopling of the British Isles. The authors consider why some names die out, and how others have spread across the globe. They use recent advances in DNA testing to discover whether particular surnames have a single, dual or multiple origins and whether various forms of a name have a common origin. They show how information from DNA can be combined with historical evidence and techniques to distinguish between individuals with the same name and different names with similar spellings and to identify the name of the same individual or family spelt in various ways in different times and places. Clearly written and illustrated with hundreds of examples, this book will be welcomed by all those engaged in genealogical research, including everyone seeking to discover the histories of their names and families.

Our ever-increasing knowledge of whole genome sequences is unveiling a variety of structures and mechanisms that impinge on current evolutionary theory. The origin of species, the evolution of form, and the evolutionary impact of transposable elements are just a few of the many processes that have been revolutionized by ongoing genome studies. These novelties, among others, are examined in this book in relation to their general significance for evolution, emphasising their human relevance. The predominance of non-coding DNA in the human genome, the long-term adaptive role of so called "junk DNA" in the evolution of new functions, and the key evolutionary differences that define our humanity are just some of the controversial issues that this book examines in the context of Darwinian evolution. The author's principle intention is to show that whilst genomics is revealing new and previously unanticipated mechanisms and sources of variability that must be incorporated into evolutionary theory, there is no reason to dismiss the role of natural selection as the mechanism that sorts out these potentialities. In other words, this genome potential provides new possibilities (and also constraints) for evolution, but the realization of this potential is driven by natural selection.

Genomics and genome technology is having, and continues to have, a major impact on all areas of bioscience research providing insights into the key area of molecular mechanisms of cells in health and disease. This is causing a profound effect on biomedical science and is accelerating the development of new diagnostic applications. This book provides a timely, graduate level introduction to the fast-paced area of genomics and clinical diagnostic technologies and introduces the concept of applications based on this area. The initial chapters focus on principal molecular technologies that underpin the information in the later chapters. In addition to introductory areas of nucleic acids and techniques in molecular biology, bioinformatics and proteomics, other key diagnostic areas such as the use of immunological reagents are covered. The later chapters provide more specialised examples of currently used diagnostic technologies and insights into selected key diagnostic challenges including specific examples of molecular microbial diagnostics and molecular biomarkers in oncology. The running themes through the chapters provides an insight into current and future perspectives in this rapidly evolving field.

Learn the data skills necessary for turning large sequencing datasets into reproducible and robust biological findings. With this practical guide, you'll learn how to use freely available open source tools to extract meaning from large complex biological data sets. At no other point in human history has our ability to understand life's complexities been so dependent on our skills to work with and analyze data. This intermediate-level book teaches the general computational and data skills you need to analyze biological data. If you have experience with a scripting language like Python, you're ready to get started. Go from handling small problems with messy scripts to tackling large problems with clever methods and tools Process bioinformatics data with powerful Unix pipelines and data tools Learn how to use exploratory data analysis techniques in the R language Use efficient methods to work with genomic range data and range operations Work with common genomics data file formats like FASTA, FASTQ, SAM, and BAM Manage your bioinformatics project with the Git version control system Tackle tedious data processing tasks with with Bash scripts and Makefiles

Known world-wide as the standard introductory text to this important and exciting area, the sixth edition of "Gene Cloning and DNA Analysis" addresses new and growing areas of research whilst retaining the philosophy of the previous editions. Assuming the reader has little prior knowledge of the subject, its importance, the principles of the techniques used and their applications are all carefully laid out, with over 250 clearly presented four-colour illustrations.

In addition to a number of informative changes to the text throughout the book, the final four chapters have been significantly updated and extended to reflect the striking advances made in recent years in the applications of gene cloning and DNA analysis in biotechnology.

"Gene Cloning and DNA Analysis" remains an essential introductory text to a wide range of biological sciences students; including genetics and genomics, molecular biology, biochemistry, immunology and applied biology. It is also a perfect introductory text for any professional needing to learn the basics of the subject. All libraries in universities where medical, life and biological sciences are studied and taught should have copies available on their shelves.

..". the book content is elegantly illustrated and well organized in clear-cut chapters and subsections... there is a Further Reading section after each chapter that contains several key references... What is extremely useful, almost every reference is furnished with the short but distinct author's remark."
-"Journal of Heredity," 2007 (on the previous edition)