This title develops from the 24th Stadler symposium. It explores the general theme "GENOME EXPLOITATION: Data Mining the Genomes." The idea behind the theme is to discuss and illustrate how scientists are going to characterize and make use of the massive amount of information being accumulated about plant and animal genomes. The book presents a state-of-the-art picture on mining the Genome databases. Its chapters are authored by key stars in the field.

The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists preparing for the certifying examination in Clinical Cytogenetics offered by the American Board of Medical Genetics (ABMG). Written by nearly 30 distinguished international contributors, Medical Cytogenetics -covers the history of the field, tissue culturing and staining techniques, and clinical applications of FISH, as well as other methods for genetic studies and chromosomal analysis -supplies numerous examples and case reports -examines reproductive dysfunctions such as in-utero abnormalities, male infertility, and failure to conceive -investigates chromosomal abnormalities associated with myeloid hematopoietic disorders, lymphoid neoplasms, and solid tumors such as those associated with breast cancer -reviews means of obtaining accreditation or licenses, use of external peer reviews and voluntary inspections, proficiency testing, and regulatory oversight -and more! Thoroughly referenced with over 1800 bibliographic citations, and supplemented with a useful glossary, a large number of practice questions, and over 40 color photographs, Medical Cytogenetics is a pragmatic, hands-on reference for pathologists, geneticists, cytogenetic technologists, molecular and cell biologists, clinical and medical oncologists, hematologists, neurologists, pediatricians, endocrinologists, obstetricians, gynecologists, and primary care physicians, and an exceptionaltext for upper-level undergraduate, graduate, and medical students in these disciplines.

High-throughput measurements of gene expression and genetic marker data facilitate systems biologic and systems genetic data analysis strategies. Gene co-expression networks have been used to study a variety of biological systems, bridging the gap from individual genes to biologically or clinically important emergent phenotypes.

"Mouse Genetics: Methods and Protocols" provide selected mouse genetic techniques and their application in modeling varieties of human diseases. The chapters are mainly focused on the generation of different transgenic mice to accomplish" "the manipulation of genes of interest, tracing cell lineages and modeling human diseases. Composed in the highly successful "Methods in Molecular Biology "series format, each chapter contains a brief introduction, a list of necessary materials, systematic, readily reproducible methods and a notes section, which shares tips on troubleshooting in order to avoid known pitfalls.

Comprehensive and authoritative, "Mouse Genetics: Methods and Protocols" promises to deliver fundamental techniques and protocols to geneticists, molecular biologists, cell and developmental biologists, students and postdoctoral fellows working in the various disciplines of mouse biology and modeling human disease.

After volume 33, this book series was replaced by the journal "Evolutionary Biology." Please visit www.springer.com/11692 for further information.

The nature of science is to work on the boundaries between the known and the unknown. These boundaries shift as new methods are developed and as new concepts are elaborated (e.g., the theory of the gene, or more recently, the coalescence framework in population genetics). These tools allow us to address questions that were previously outside the realm of science, and, as a consequence, the boundary between the knowable and unknowable has shifted. A study of limits should reveal and clarify the boundaries and make sharper the set of questions. This book examines and analyzes these new limits as they are applied to evolutionary biology and population genetics. It does this by framing the analysis within four major classes of problems - establishing the fact of evolution; understanding the evolutionary pathways that led to today's biological world; mechanisms of evolutionary change (e.g., models of social behavior, sexual selection, macro evolution); and, finally, prediction.

Despite the many milestones in cystic fibrosis (CF) research, progress towards curing the disease has been slow, and it is increasingly difficult to grasp and use the already wide and still growing range of diverse methods currently employed to study CF so as to understand it in its multidisciplinary nature. Cystic Fibrosis: Diagnosis and Protocols aims to provide the CF research community and related researchers with a very wide range of high-quality experimental tools, as an easy way to grasp and use classical and novel methods applied to cystic fibrosis. Volume I: Approaches to Study and Correct CFTR Defects focuses on the cystic fibrosis transmembrane conductance regulator (CFTR) and its expression, biogenesis, structure, and function in terms of the defects causing CF. Written in the highly successful Methods in Molecular Biology (TM) 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. Comprehensive and practical, Cystic Fibrosis: Diagnosis and Protocols will provide readers with optimal working tools to address pressing questions in the best technical way, while helping all of us, as a research and clinical community, to move faster hand-in-hand toward unravelling the secrets of this challenging disorder and cure it.

Recent progress in high-throughput technologies and genome wide transcriptome studies have lead to a significant scientific milestone of discovering non-coding RNAs (ncRNAs) which spans through a major portion of the genome. These RNAs most often act as riboregulators, and actively participate in the regulation of important cellular functions at the transcriptional and/or post-transcriptional levels rather than simply being an intermediated messenger between DNA and proteins. As the appreciation for the importance of ncRNAs continues to emerge, it is also increasingly clear that these play critical roles in gene regulatory processes during development and differentiation. Further, regulatory RNAs are useful biomarkers for diagnosis of diseases. Hence these RNA regulators are essential to the development of therapeutics. This book on "Regulatory RNAs" offers a comprehensive view on our current understanding of these regulatory RNAs viz. siRNA, miRNA, piRNA, snoRNA, long non-coding RNA, small RNA etc. It addresses both the biogenesis and mechanism of action of regulatory RNAs with a primary focus on their annotation, experimental methodologies (microarray, next-gen sequencing etc.) for their discovery, computational tools for their prediction, and above all, applications of these revolutionary regulatory molecules in understanding biological systems and diseases, including therapeutics. This comprehensive volume is intended for readers with research or teaching interests in ncRNA biology and will provide a major information resource on current research in the fast-moving fields of RNA and gene expression regulation. Cutting-edge and concise, "Regulatory RNAs: Basics, Methods and Applications" promises to support vital research in the field of regulatory RNAs, ever-continuing to grow rapidly and gain increasing importance in basic and translational biology.

The field of epigenetics has played a major role at the forefront not only of molecular biology, but also of medical genetics and clinical medicine. Few disciplines have experienced growth comparable to that which we have witnessed for epigenetics in the past decade. The goal of "Epigenetics Protocols, Second Edition "is to highlight select techniques that have been mainstays in the field as well as to cover methods that are especially relevant to extant discoveries in epigenetics. This volume focuses on the two broad areas of epigenetics: DNA methylation and chromatin modifications, and also covers the complex topic of computational methods for epigenetic analyses which is essential to a complete understanding of the vast body of information that is being derived with the use of these newly-developed tools. Written in the highly successful "Methods in Molecular Biology " series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls.

Authoritative and accessible, "Epigenetics Protocols, Second Edition" serves as an ideal guide to advanced students, basic scientists and clinical researchers as well as clinicians and biotechnology investigators who wish to continue exploring this exciting and progressive research field."

DNA testing and its forensic analysis are recognized as the "gold standard" in forensic identification science methods. However, there is a great need for a hands-on step-by-step guide to teach the forensic DNA community how to interpret DNA mixtures, how to assign a likelihood ratio, and how to use the subsequent likelihood ratio when reporting interpretation conclusions. Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios will provide a roadmap for labs all over the world and the next generation of analysts who need this foundational understanding. The techniques used in forensic DNA analysis are based upon the accepted principles of molecular biology. The interpretation of a good-quality DNA profile generated from a crime scene stain from a single-source donor provides an unambiguous result when using the most modern forensic DNA methods. Unfortunately, many crime scene profiles are not single source. They are described as mixed since they contain DNA from two or more individuals. Interpretation of DNA mixtures represents one of the greatest challenges to the forensic DNA analyst. As such, the book introduces terms used to describe DNA profiles and profile interpretation. Chapters explain DNA extraction methods, the polymerase chain reaction (PCR), capillary electrophoresis (CE), likelihood ratios (LRs) and their interpretation, and population genetic models-including Mendelian inheritance and Hardy-Weinberg equilibrium. It is important that analysts understand how LRs are generated in a probabilistic framework, ideally with an appreciation of both semicontinuous and fully continuous probabilistic approaches. KEY FEATURES: * The first book to focus entirely on DNA mixtures and the complexities involved with interpreting the results * Takes a hands-on approach offering theory with worked examples and exercises to be easily understood and implementable by laboratory personnel * New methods, heretofore unpublished previously, provide a means to innovate deconvoluting a mixed DNA profile, assign an LR, and appropriately report the weight of evidence * Includes a chapter on assigning LRs for close relatives (i.e., "It's not me, it was my brother"), and discusses strategies for the validation of probabilistic genotyping software Forensic DNA Profiling fills the void for labs unfamiliar with LRs, and moving to probabilistic solutions, and for labs already familiar with LRs, but wishing to understand how they are calculated in more detail. The book will be a welcome read for lab professionals and technicians, students, and legal professionals seeking to understand and apply the techniques covered.

This book explores mental disorders from a uniquely evolutionary perspective. Although there have been many attempts to mathematically model neural processes and, to some extent, their dysfunction, there is very little literature that models mental function within a sociocultural, socioeconomic, and environmental context. Addressing this gap in the extant literature, this book explores essential aspects of mental disorders, recognizing the ubiquitous role played by the exaptation of crosstalk between cognitive modules at many different scales and levels of organization, the missing heritability of complex diseases, and cultural epigenetics. Further, it introduces readers to valuable control theory tools that permit the exploration of the environmental induction of neurodevelopmental disorders, as well as the study of the synergism between culture, psychopathology and sleep disorders, offering a distinctively unique resource.

Genetic counselors translate the findings of scientific investigation into meaningful accounts that enable individuals and families to make decisions about their lives. This collection of original papers explores the history, values, and norms of that process, with some focus on the value of nondirectiveness in counseling practice. The contributors; examination of genetic counseling issues serves as a foundation from which to address other ethical, legal, and policy considerations in the expanding universe of clinical genetics.

A TIMES ENVIRONMENT AND SCIENCE BOOK OF THE YEAR 2022 'Brilliant .. I cannot recommend this book strongly enough' - Henry Marsh, New Statesman (about The Idea of the Brain) A new gene editing technology, invented just seven years ago, has turned humanity into gods. Enabling us to manipulate the genes in virtually any organism with exquisite precision, CRISPR has given scientists a degree of control that was undreamt of even in science fiction. But CRISPR is just the latest, giant leap in a long journey to master genetics. The Genetic Age shows the astonishing, world-changing potential of the new genetics and the possible threats it poses, sifting between fantasy and the reality when it comes to both benefits and dangers. By placing each phase of discovery, anticipation and fear in the context of over fifty years of attempts to master the natural world, Matthew Cobb, the Baillie-Gifford-shortlisted author of The Idea of the Brain, weaves the stories of science, history and culture to shed new light on our future. With the powers now at our disposal, it is a future that is almost impossible to imagine - but it is one we will create ourselves.

Arising from firm foundations laid by mathematical population genetics, clinical genetics, and statistical epidemiology, genetic epidemiology attempts to identify the many components of risk

attributable to genes, environments, and interactions, and the course of its research can follow many diverse paths. In "Genetic Epidemiology," the success of genome-wide association studies in their identification of hundreds of disease susceptibility loci has inspired renowned experts to contribute thorough methodologies, which aim to bring together bioinformaticians, geneticists, clinicians, statisticians, and epidemiologists in the study of this vital field. The volume opens with chapters covering the basics; however, it quickly moves on to coverage of more specialist topics such as twin studies, Mendelian randomization, genetic association studies, more advanced areas, as well as case studies. As a part of the highly successful "Methods in Molecular Biology " series, this work provides the detailed description of the application and analysis of the most commonly employed methods that are necessary for a firm grounding in the field.

Authoritative and cutting-edge, "Genetic Epidemiology" aims to provide a basic framework for crucial interdisciplinary communication and understanding suited to newcomers to the field as well as experienced researchers and graduate level students."

Pocket Guide to Gene Level Diagnostics in Clinical Practice is an abbreviated, pocket-size, quick-reference guide that provides a point-by-point synopsis of the vast wealth of information contained in CRC Handbook of Gene Level Diagnostics in Clinical Practice. All sections and subsections in the Pocket Guide are cross-referenced to corresponding pages in the Handbook. The book works well on its own as a quick reference, but also can be used in conjunction with the larger Handbook for detailed coverage and references to specific information. Pocket Guide to Gene Level Diagnostics in Clinical Practice also includes extensive supplements featuring material not included in the Handbook. These are intended to provide an up-dated, practical source of information useful to anyone involved in molecular diagnostic research and/or service. Supplements are cross-referenced to the main text of the Pocket Guide, that complement and enhance the material covered. Pocket Guide to Gene Level Diagnostics in Clinical Practice will be a handy reference for professionals and students in pathology, biotechnology, biology, and medicine.

This volume provides researchers with up-to-date protocols and takes a close look at current research and promising applications. Optogenetics: Methods and Protocols contains a collection of recently developed technical protocols on optogenetic applications in neuroscience, brain mapping, treatment of neurological disorders, and restoration of visual function. Several introductory and discussion chapters offer a wide overview about sources and diversity of optogenetic tools, design strategies, and potential applications in other fields like plant research. 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, Optogenetic: Methods and Protocols, delivers an interdisciplinary view of optogenetic applications and its potential to develop as a valuable tool for basic research, as well as biomedical and biotechnological applications.

With very few exceptions, eukaryotic cells possess two interdependent genomes, chromosomal and extra-chromosomal. Over the past several decades, cancer - search has focused primarily on deciphering the intricate alterations in the chro- somal genome, with until recently, very little attention to its cytoplasmic counterpart. In spite of the enormous complexity of the nuclear genome, which we now fully appreciate after completion of the human genome project, the efforts of cancer researchers are commendable in terms of the tremendous gains made in unraveling the numerous genetic changes in cancer. These changes include d- coveries of tumor suppressor genes, oncogenes, and caretaker genes that are often mutated in cancer. Recent studies of genomic pro?les are uncovering even more altered and mutated genes in cancer. Besides these ?ndings, several therapeutic targets for chemotherapy are currently made from studies of altered nuclear genetic pathways. Inspite of all these positive efforts, the war on cancer, declared in 1971 by Richard Nixon, is far from being worn. Indeed, the failure of chemotherapy is obvious to clinicians, oncologists, and their patients alike. Moreover, the global incidence and prevalence of cancer continue to rise. What are we missing? Which direction should we be taking? Of course, modern integrated nuclear genomics, proteomics, and metabolomics should provide important clues to carcinogenesis, but the contribution of cytoplasmic genetic alterations to carcinogenesis cannot be neglected.

Next Generation Sequencing (NGS) is the latest high throughput technology to revolutionize genomic research. NGS generates massive genomic datasets that play a key role in the big data phenomenon that surrounds us today. To extract signals from high-dimensional NGS data and make valid statistical inferences and predictions, novel data analytic and statistical techniques are needed. This book contains 20 chapters written by prominent statisticians working with NGS data. The topics range from basic preprocessing and analysis with NGS data to more complex genomic applications such as copy number variation and isoform expression detection. Research statisticians who want to learn about this growing and exciting area will find this book useful. In addition, many chapters from this book could be included in graduate-level classes in statistical bioinformatics for training future biostatisticians who will be expected to deal with genomic data in basic biomedical research, genomic clinical trials and personalized medicine.

About the editors:

Somnath Datta is Professor and Vice Chair of Bioinformatics and Biostatistics at the University of Louisville. He is Fellow of the American Statistical Association, Fellow of the Institute of Mathematical Statistics and Elected Member of the International Statistical Institute. He has contributed to numerous research areas in Statistics, Biostatistics and Bioinformatics.

Dan Nettleton is Professor and Laurence H. Baker Endowed Chair of Biological Statistics in the Department of Statistics at Iowa State University. He is Fellow of the American Statistical Association and has published research on a variety of topics in statistics, biology and bioinformatics."

The Direction of Medical Ethics The direction bioethics, and specifically medical ethics, will take in the next few years will be crucial. It is an emerging specialty that has attempted a great deal, that has many differing agendas, and that has its own identity crisis. Is it a subspecialty of clinical medicine? Is it a medical reform movement? Is it a consumer pro tection movement? Is it a branch of professional ethics? Is it a ra tionale for legal decisions and agency regulations? Is it something physicians and ethical theorists do constructively together? Or is it a morally concentrated attack on high technology, with the prac titioners of scientific medicine and the medical ethicists in an adversarial role? Is it a conservative endeavor, exhibiting a Frankenstein syn drome in Medical Genetics ("this time, they have gone too far"), or a Clockwork Orange syndrome in Psychotherapy ("we have met hods to make you talk-walk-cry-kill")? Or does it suffer the afflic tion of overdependency on the informal fallacy of the Slippery Slope ("one step down this hill and we will never be able to stop") that remains an informal fallacy no matter how frequently it's used? Is it a restricted endeavor of analytic philosophy: what is the meaning of "disease," how is "justice" used in the allocation of medical resources, what constitutes "informed" or "consent?" Is it applied ethics, leading in clinical practice to some recommenda tion for therapeutic or preventive action? This incomplete list of questions indicates just how complex,"

Delineating fundamental concepts of contemporary immunogenetics, this reference/text examines specific immunogenetic systems in terms of molecular biochemistry and immunophysiology. Covers material in diverse fields, including infectious diseases, cell biology, virology, molecular genetics. Comprise

This book presents the findings of a study into the social shaping of reproductive genetics in Germany and Israel, two exceptionally interesting social settings, which share a traumatic history. Based on a variety of empirical materials (including in-depth interviews with genetic counsellors and survey data on their practices and opinions, as well as analysis of legal, religious, professional and media texts), the study reveals dramatic differences between the way that the German and Israeli societies address the question of a life (un)worthy of living: while in Germany, social, cultural, religious and legal conditions restrict the selection of embryos based on prenatal diagnosis, in Israel they strongly encourage it.

This volume of Energy Balance and Cancer provides state-of-the-art descriptions of the rapidly evolving science of epigenetics and how it may explain mechanisms by which alterations in energy balance such as obesity and physical activity may impact cancer. In addition to chapters explaining the processes mediating epigenetic regulation, the volume contains a series of chapters explaining how environmental influences including early life events, nutrition, exercise and microbiota may induce epigenetic changes that can affect carcinogenesis. The following chapters describe epigenetic relations of energy balance to cancer in distinct organ systems including esophagus, colon, prostate and breast. Epigenetics, Energy Balance and Cancer provides a valuable resource for students, research investigators and clinicians seeking to better understand these processes as well as a basis for novel translational and transdisciplinary approaches to further elucidate these processes and develop preventive and therapeutic strategies.

The enormous and varied role of calcium in living systems is now widely appreciated by both cell biologists and clinicians. The identification and characterisation of new calcium binding proteins and regulatory pathways is matched by the recognition of the involvement of calcium binding proteins in a growing number of disease states. This book is intended to introduce clinicians to fundamental biological research, whilst at the same time attracting researchers to the clinical world. The publication of the book coincides with the elucidation of the complete Human Genomic Sequence. As a result of this, scientists now have access to an unprecedented array of data, from which new calcium binding proteins and hence new regulatory pathways will undoubtedly be discovered. It is a further aim of this book to provide a key' to open the door to the new postgenomic era. The book is in three parts. The first section introduces the reader to the role of calcium in cell biology, providing an appreciation of how this small, simple, non-metabolisable agent can move rapidly and silently through the different cellular compartments, thereby influencing and controlling the fate of the cell. This section also illustrates and dissects the often-complex interplay between calcium and numerous agents in muscle and endocrine cells, neurons, hepatocytes, and platelets. In the second section the reader will discover the role of calcium and its partners in common diseases such as migraine and drug dependence. New classes of diseases such as annexinopathies, channelopathies, calcium-sensing disorders, and citrullinemia are discussed, and the authors give many new insights into the molecular mechanisms of the diseases, thereby explaining how and why they occur. Such information is clearly of primary importance for the pharmaceutical industry. New ideas and concepts of neurodegenerative diseases are introduced, which should stimulate new approaches. Clinicians will also have access, in a comprehensive and authoritative yet highly readable chapter, to data from recent large-scale clinical studies on the numerous and widely prescribed calcium antagonists. The final section gives information on new methods and devices for calcium imaging, and illustrates how calcium movement and change can be monitored and ingeniously utilised as a fast, cheap, and accurate drug screening instrument.

This book helps transform the awareness of the anticipatory perspective into actionable methods for practitioners of medicine. It provides guidance for those who design new means and methods inspired by epigenetics, in particular to those who advance sustainable alternatives.