With the continuing advances in sequencing technologies and the availability of thousands of distinct human genomes, we are fast approaching the day when ´´personal genomes´´ become a standard study measure and a routine component of personal health records. In Genetic Variation: Methods and Protocols , expert researchers address the rising importance of genome variation, both at the level of the individual and in population-based studies of disease, with a collection of detailed protocols reflecting the nature and impact of genetic variation on human phenotypes. The contributions cover a majority of the most important forms of genetic variation studied today, including single nucleotide polymorphisms (SNPs), insertions/deletion (indels), copy number variation (CNVs), variable number tandem repeats (VNTRs), mitochondrial variation, mobile elements, and epigenetic variation. As a volume in the highly successful Methods in Molecular Biology (TM) series, chapters include 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. Convenient and cutting-edge, Genetic Variation: Methods and Protocols aims to bring bench scientists, clinicians, and bioinformaticians together in order to aid progress toward a greater understanding of the full impact of variation on human health and disease. ´´Your genome is an email attachment´´ What a difference a few years can make? In 2001, to a global fanfare, the completion of the frst draft sequence of the human genome was announced. This had been a Herculean effort, involving thousands of researchers and millions of dollars. Today, a project to re-sequence 1,000 genomes is well underway, and within a year or two, your own ´´personal genome´´ is likely to be available for a few thousand pounds, a price that will undoubtedly decrease further. We are fast approaching the day when your genome will be available as an email attachment (about 4 Mb). The key to this feat is the fact that any two human genomes are more than 99% identical, so rather than representing every base, there is really only a requirement to store the 1% of variable sequence judged against a common reference genome. This brings us directly to the focus of this edition of Methods in Molecular Biology, Genetic Variation. The human genome was once the focus of biology, but now individual genome var- tion is taking the center stage. This new focus on individual variation ultimately democ- tizes biology, offering individuals insight into their own phenotype. But these advances also raise huge concerns of data misuse, misinterpretation, and misunderstanding. The immediacy of individual genomes also serves to highlight our relative ignorance of human genetic variation, underlining the need for more studies of the nature and impact of genetic variation on human phenotypes.
The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson´s disease. Dementias, including Alzheimer´s disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.
Like its preceding editions, this atlas is an indispensable guide to the field of neurology, featuring the most clinically essential images and figures. Chapters offer insight and research written by deeply practiced, knowledgeable neurologists that is supplemented with detailed imagery, tables, algorithms, and delineative drawings. Topics covered include developmental and genetic diseases, neuroendocrine disorders, critical care neurology, cerebrovascular disease, dementias, behavioral neurology, neuro-oncology, movement disorders, epilepsy, neuromuscular diseases, infectious diseases, neuroimmunology, neurotoxic disorders, and headache. The authors also delve into specific issues currently prevalent in neuroscientific research, including Alzheimer´s disease, dementia, Machado-Joseph disease, Huntington´s disease, and brain scanning with PET and fMRI. The Atlas of Clinical Neurology, 4th Edition serves as a comprehensive and premier visual resource for neurologists.
This grammar is a first detailed description of Qaqet, a non-Austronesian language spoken in the mountainous interior of East New Britain Province, Papua New Guinea. Qaqet belongs to the small Baining language family (comprising six languages), but its wider genetic affiliations remain unclear. It is included among the geographically-defined East Papuan languages. The grammar presents a synchronic description of the language. From a language family perspective, the Baining languages are structurally fairly similar, but there are considerable differences in detail that point to different language-internal developments and grammaticalization paths. From an East Papuan and areal perspective, Qaqet exhibits both typical East Papuan features (e.g., nominal classification, possessor/possessed order, highly compositional lexicon) as well as areal features (e.g., AVO ~ SV constituent order, articles and determiners, prepositions). The description is based on primary data collected during fieldwork (from 2011 onwards), including both natural and elicited data. The description thereby provides new analyses and insights that are relevant to our understanding of the genetic and areal relationships in this region.
Predicting the future for financial gain is a difficult, sometimes profitable activity. The focus of this book is the application of biologically inspired algorithms (BIAs) to financial modelling.In a detailed introduction, the authors explain computer trading on financial markets and the difficulties faced in financial market modelling. Then Part I provides a thorough guide to the various bioinspired methodologies neural networks, evolutionary computing (particularly genetic algorithms and grammatical evolution), particle swarm and ant colony optimization, and immune systems. Part II brings the reader through the development of market trading systems. Finally, Part III examines real-world case studies where BIA methodologies are employed to construct trading systems in equity and foreign exchange markets, and for the prediction of corporate bond ratings and corporate failures.The book was written for those in the finance community who want toapply BIAs in financial modelling, and for computer scientists who want an introduction to this growing application domain.
Part of the highly regarded Diagnostic Pathology series, this updated volume is a visually stunning, easy-to-use reference covering all aspects of common and rare renal diseases and their variants. Outstanding images-including gross and microscopic pathology, a wide range of stains, and detailed medical illustrations-make this an invaluable diagnostic aid for every practicing pathologist, resident, or fellow. Written by leading pathologists, this second edition presents an up-to-date , concise presentation of major pathological, clinical, pathophysiological, and genetic information for over 240 diagnoses .
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 dialect Continues in the style of Forensic DNA Typing, 2e, with high-profile cases addressed in D.N.A.Boxes-- ´´Data, Notes & Applications´´ sections throughout Ancillaries 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
The Mouse Nervous System provides a comprehensive account of the central nervous system of the mouse. The book is aimed at molecular biologists who need a book that introduces them to the anatomy of the mouse brain and spinal cord, but also takes them into the relevant details of development and organization of the area they have chosen to study. The Mouse Nervous System offers a wealth of new information for experienced anatomists who work on mice. The book serves as a valuable resource for researchers and graduate students in neuroscience. Systematic consideration of the anatomy and connections of all regions of the brain and spinal cord by the authors of the most cited rodent brain atlases A major section (12 chapters) on functional systems related to motor control, sensation, and behavioral and emotional states A detailed analysis of gene expression during development of the forebrain by Luis Puelles, the leading researcher in this area Full coverage of the role of gene expression during development and the new field of genetic neuroanatomy using site-specific recombinases Examples of the use of mouse models in the study of neurological illness The Mouse Nervous System provides a comprehensive account of the central nervous system of the mouse. The book is aimed at molecular biologists who need a book that introduces them to the anatomy of the mouse brain and spinal cord, but also takes them into the relevant details of development and organization of the area they have chosen to study. The Mouse Nervous System offers a wealth of new information for experienced anatomists who work on mice. The book serves as a valuable resource for researchers and graduate students in neuroscience. Systematic consideration of the anatomy and connections of all regions of the brain and spinal cord by the authors of the most cited rodent brain atlases A major section (12 chapters) on functional systems related to motor control, sensation, and behavioral and emotional states A detailed analysis of gene expression during development of the forebrain by Luis Puelles, the leading researcher in this area Full coverage of the role of gene expression during development and the new field of genetic neuroanatomy using site-specific recombinases Examples of the use of mouse models in the study of neurological illness
This book provides up-to-date descriptions of the various areas of applied bioinformatics, from the analysis of sequence, literature, and functional data to the function and evolution of organisms. Bioinformatics is a relatively new field of research. It evolved from the requirement to process, characterize, and apply the information being produced by DNA sequencing technology. The production of DNA sequence data continues to grow exponentially. At the same time, improved bioinformatics such as faster DNA sequence search methods have been combined with increasingly powerful computer systems to process this information. Methods are being developed for the ever more detailed quantification of gene expression, providing an insight into the function of the newly discovered genes, while molecular genetic tools provide a link between these genes and heritable traits. Genetic tests are now available to determine the likelihood of suffering specific ailments and can predict how plant cultivars may respond to the environment. The steps in the translation of the genetic blueprint to the observed phenotype is being increasingly understood through proteome, metabolome and phenome analysis, all underpinned by advances in bioinformatics. Bioinformatics is becoming increasingly central to the study of biology, and a day at a computer can often save a year or more in the laboratory. The volume is intended for graduate-level biology students as well as researchers who wish to gain a better understanding of applied bioinformatics and who wish to use bioinformatics technologies to assist in their research. The volume would also be of value to bioinformatics developers, particularly those from a computing background, who would like to understand the application of computational tools for biological research. Each chapter would include a comprehensive introduction giving an overview of the fundamentals, aimed at introducing graduate students and researchers from diverse backgrounds to the field and bring them up-to-date on the current state of knowledge. To accommodate the broad range of topics in applied bioinformatics, chapters have been grouped into themes: gene and genome analysis, molecular genetic analysis, gene expression analysis, protein and proteome analysis, metabolome analysis, phenome data analysis, literature mining and bioinformatics tool development. Each chapter and theme provides an introduction to the biology behind the data describes the requirements for data processing and details some of the methods applied to the data to enhance biological understanding.
This detailed volume guides readers through strategic planning and user-friendly guidelines in order to select the most suitable CRISPR-Cas system and target sites with high activity and specificity. Methods covering CRISPR gRNA design, CRISPR delivery, CRISPR activity quantification (indel quantification), and examples of applying CRISPR gene editing in human pluripotent stem cells, primary cells, gene therapy, and genetic screening are included. Written for the highly successful Methods in Molecular Biology series, 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 invaluable, CRISPR Gene Editing: Methods and Protocols will assist undergraduates, graduates, and researchers with detailed guidelines and methods for the vitally important CRISPR gene editing field. Chapter 3 is available open access under a CC BY 4.0 license via link.springer.com.