The Hitchhiker S Guide To Whole Exome Analysis

A handbook on computational analysis of whole exome sequence data

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

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.

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

Population genomics has provided unprecedented opportunities to unravel the mysteries of marine organisms in the oceans' depths. The world's oceans, which make up 70% of our planet, encompass diverse habitats and host numerous unexplored populations and species. Population genomics studies of marine organisms are rapidly emerging and have the potential to transform our understanding of marine populations, species, and ecosystems, providing insights into how these organisms are evolving and how they respond to different stimuli and environments. This knowledge is critical for understanding the fundamental aspects of marine life, how marine organisms will respond to environmental changes, and how we can better protect and preserve marine biodiversity and resources. This book brings together leading experts in the field to address critical aspects of fundamental and applied research in marine species and share their research and insights crucial for understanding marine ecosystem diversity and function. It also discusses the challenges, opportunities and future perspectives of marine population genomics.

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.