The Hitchhiker's Guide to Whole Exome Analysis


Book Description

A handbook on computational analysis of whole exome sequence data




Landscape of Next Generation Sequencing Using Pattern Recognition


Book Description

This book focuses on an eminent technology called next generation sequencing (NGS) which has entirely changed the procedure of examining organisms and will have a great impact on biomedical research and disease diagnosis. Numerous computational challenges have been brought on by the rapid advancement of large-scale next-generation sequencing (NGS) technologies and their application. The term ""biomedical imaging"" refers to the use of a variety of imaging techniques (such as X-rays, CT scans, MRIs, ultrasounds, etc.) to get images of the interior organs of a human being for potential diagnostic, treatment planning, follow-up, and surgical purposes. In these circumstances, deep learning, a new learning method that uses multi-layered artificial neural networks (ANNs) for unsupervised, supervised, and semi-supervised learning, has attracted a lot of interest for applications to NGS and imaging, even when both of these data are used for the same group of patients. The three main research phenomena in biomedical research are disease classification, feature dimension reduction, and heterogeneity. AI approaches are used by clinical researchers to efficiently analyse extremely complicated biomedical datasets (e.g., multi-omic datasets. With the use of NGS data and biomedical imaging of various human organs, researchers may predict diseases using a variety of deep learning models. Unparalleled prospects to improve the work of radiologists, clinicians, and biomedical researchers, speed up disease detection and diagnosis, reduce treatment costs, and improve public health are presented by using deep learning models in disease prediction using NGS and biomedical imaging. This book influences a variety of critical disease data and medical images.




Molecular Ecology and Genetic Diversity of the Roseobacter Clade


Book Description

Marine bacteria and archaea are key players in the biogeochemical cycling of nitrogen, carbon, and other elements. One important lineage of marine bacteria is the Roseobacter group. Members of this clade are the most abundant bacteria in marine ecosystems constituting up to 25% of the marine bacterioplankton. They have been detected in various marine habitats from coastal regions to deep-sea sediments and from polar regions to tropical latitudes. These bacteria are physiologically and genetically very versatile. Utilization of several organic and inorganic compounds, sulfur oxidation, aerobic anoxygenic photosynthesis, carbon monoxide oxidation, DMSP demethylation, and production of secondary metabolites are some of the important functional traits found in this clade. Moreover, several isolates are available allowing in-depth analysis of physiological and genetic characteristics. Although the Roseobacter group has been intensively studied in recent years, our understanding of its ecological contributions and the evolutionary processes shaping the genomes of this clade is still rather limited.




Translational Neuroscience


Book Description

Experts from academia and industry discuss how to create a new, more effective translational neuroscience drawing on novel technology and recent discoveries. Today, translational neuroscience faces significant challenges. Available therapies to treat brain and nervous system disorders are extremely limited and dated, and further development has effectively ceased. Disinvestment by the private sector occurred just as promising new technologies in genomics, stem cell biology, and neuroscience emerged to offer new possibilities. In this volume, experts from both academia and industry discuss how novel technologies and reworked translation concepts can create a more effective translational neuroscience. The contributors consider such topics as using genomics and neuroscience for better diagnostics and biomarker identification; new approaches to disease based on stem cell technology and more careful use of animal models; and greater attention to human biology and what it will take to make new therapies available for clinical use. They conclude with a conceptual roadmap for an effective and credible translational neuroscience—one informed by a disease-focused knowledge base and clinical experience. Contributors Tobias M. Böckers, Thomas Bourgeron, Karl Broich, Nils Brose, Bruce N. Cuthbert, Ilka Diester, Gül Dölen, Guoping Feng, Richard Frackowiak, Raquel E. Gur, Stephan Heckers, Franz Hefti, David M. Holtzman, Steven E. Hyman, Nancy Ip, Cynthia Joyce, Tobias Kaiser, Edward H. Koo, Walter J. Koroshetz, Katja S. Kroker, Robert C. Malenka, Isabelle Mansuy, Eliezer, Masliah, Yuan Mei, Andreas Meyer-Lindenberg, Lennart Mucke, Pierluigi Nicotera, Karoly Nikolich, Michael J. Owen, Menelas N. Pangalos, Alvaro Pascual-Leone, Joel S. Perlmutter, Trevor W. Robbins, Lee L. Rubin, Akira Sawa, Mareike Schnaars, Bernd Sommer, Maria Grazia Spillantini, Laura Spinney, Matthew W. State, Marius Wernig




The Neuronal Ceroid Lipofuscinoses (Batten Disease)


Book Description

The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.




Genetics and Genomics in Medicine


Book Description

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti




The Spruce Genome


Book Description

This book offers comprehensive information on the genomics of spruces (Picea spp.), naturally abundant conifer tree species that are widely distributed in the Northern Hemisphere. Due to their tremendous ecological and economic importance, the management of forest genetic resources has chiefly focused on conservation and tree improvement. A draft genome sequence of the 20-gigabase Norway spruce genome was published in the journal Nature in 2013. Continuous efforts to improve the spruce genome assembly are underway, but are hindered by the inherent characteristics of conifer genomes: high amounts of repetitive sequences (introns and transposable elements) in the genome and large gene family expansions with regards to abiotic stress, secondary metabolism and spruces' defense responses to pathogens and herbivory. This book presents the latest information on the status of genome assemblies, provides detailed insights into transposable elements and methylation patterns, and highlights the extensive genomic resources available for inferring population genomics and climate adaptation, as well as emerging genomics tools for tree improvement programs. In addition, this volume features whole-genome comparisons among conifer species, and demonstrates how functional genomics can be used to improve gene function annotations. The book closes with an outlook on emerging fields of research in spruce genomics.




Biology and Culture of Asian Seabass Lates Calcarifer


Book Description

This book covers the biology, ecology, genetics and aquaculture of the Asian Seabass or barramundi (Lates calcarifer), a commercially and recreationally valuable species. It brings together in the one place reviews written by world experts in Asian seabass taxonomy, genetics, nutrition, ecology, aquaculture, reproductive and developmental biology, climate change impacts, harvest quality and health management.




Plant Chromatin Dynamics


Book Description

This volume provides a comprehensive collection of protocols that can be used to study plant chromatin structure and composition. Chapters divided into three sections detail the profiling of chromatin features in relation to epigenetic regulation, investigate the interaction between chromatin modifications and gene regulation, and explore the 3D spatial organization of the chromatin inside the nucleus. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Plant Chromatin Dynamics: Methods and Protocols aims to ensure successful results in the further study of this vital field.




Molecular and Cell Biology of Cancer


Book Description

This textbook takes you on a journey to the basic concepts of cancer biology. It combines developmental, evolutionary and cell biology perspectives, to then wrap-up with an integrated clinical approach. The book starts with an introductory chapter, looking at cancer in a nut shell. The subsequent chapters are detailed and the idea of cancer as a mass of somatic cells undergoing a micro-evolutionary Darwinian process is explored. Further, the main Hanahan and Weinberg “Hallmarks of Cancer” are revisited. In most chapters, the fundamental experiments that led to key concepts, connecting basic biology and biomedicine are highlighted. In the book’s closing section all of these concepts are integrated in clinical studies, where molecular diagnosis as well as the various classical and modern therapeutic strategies are addressed. The book is written in an easy-to-read language, like a one-on-one conversation between the writer and the reader, without compromising the scientific accuracy. Therefore, this book is suited not only for advanced undergraduates and master students but also for patients or curious lay people looking for a further understanding of this shattering disease