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Data in the genomics field is booming. In just a few years, organizations such as the National Institutes of Health (NIH) will host 50+ petabytes—or over 50 million gigabytes—of genomic data, and they're turning to cloud infrastructure to make that data available to the research community. How do you adapt analysis tools and protocols to access and analyze that volume of data in the cloud?With this practical book, researchers will learn how to work with genomics algorithms using open source tools including the Genome Analysis Toolkit (GATK), Docker, WDL, and Terra. Geraldine Van der Auwera, longtime custodian of the GATK user community, and Brian O'Connor of the UC Santa Cruz Genomics Institute, guide you through the process. You'll learn by working with real data and genomics algorithms from the field.This book covers:Essential genomics and computing technology backgroundBasic cloud computing operationsGetting started with GATK, plus three major GATK Best Practices pipelinesAutomating analysis with scripted workflows using WDL and CromwellScaling up workflow execution in the cloud, including parallelization and cost optimizationInteractive analysis in the cloud using Jupyter notebooksSecure collaboration and computational reproducibility using Terra

This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.

Get a quick, expert overview of the many key facets of adult congenital heart disease (ACHD) with this concise, practical resource by Drs. Seshadri Balaji, Ravi Mandapati, and Gary Webb. This easy-to-read reference presents a case-based approach to this fascinating and complex field. - Presents cases provided by ACHD specialists of patients with arrhythmia issues, which are evaluated by an international panel of arrhythmia experts. - Provides commentary and practical guidance on management of complex cases by today's leaders in the field. - Consolidates today's available information and experience in this emerging area into one convenient resource.

This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.

This reference resource represents the consensus opinion a team of international specialists on the diagnosis and treatment of infective endocarditis (IE), many of whom have been co-authors of American or European guidelines on the topic. It is therefore a useful tool for many practitioners: cardiologists and cardiac imagers, cardiac surgeons, echocardiographers, specialists of internal medicine, neurologists, and infectiologists.​​​Infective endocarditis (IE) is defined as an infection of the endocardial surface of the heart, which may include one or more heart valves, the mural endocardium, or a septal defect. Its intracardiac effects include severe valvular insufficiency, which may lead to intractable congestive heart failure and myocardial abscesses. If left untreated, IE is generally fatal. IE is a changing disease with new diagnostic techniques, new therapeutic strategies, more frequent elderly people and patients with prosthetic valves of intravenous drug users.

International Review of Research in Developmental Disabilities provides an ongoing scholarly look at research into the causes, effects, classification systems, and syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. - Provides the most recent scholarly research in the study of developmental disabilities - A vast range of perspectives is offered, with many topics covered - Presents an excellent resource for academic researchers

International Review of Research in Developmental Disabilities provides an ongoing scholarly look at research into the causes, effects, classification systems, and syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. - Provides the most recent scholarly research in the study of developmental disabilities - Contains a vast range of perspectives, with many topics covered - Presents an excellent resource for academic researchers

Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

International Review of Research in Developmental Disabilities is an ongoing scholarly look at the latest research on the causes, effects, classification systems, syndromes, etc. of developmental disabilities. Contributors from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences make this book a must have for both researchers, practitioners, and those interested in the science behind developmental disabilities. - Provides the most recent scholarly research in the study of developmental disabilities. - A vast range of perspectives is offered, and many topics are covered. - An excellent resource for academic researchers.

International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, and syndromes of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. - Provides the most recent scholarly research in the study of developmental disabilities - A vast range of perspectives is offered, and many topics are covered - An excellent resource for academic researchers

International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. - Provides the most recent scholarly research in the study of developmental disabilities - A vast range of perspectives is offered, and many topics are covered - An excellent resource for academic researchers

International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, and syndromes of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. The current volume, number 46, addresses current issues in the education of students with visual impairments. Topics covered include the expanded core curriculum for students with visual impairment; assistive technology; Braille reading comprehension; communication development; orientation and mobility issues, and more. - Provides the most recent scholarly research in the study of developmental disabilities - A vast range of perspectives is offered, and many topics are covered - An excellent resource for academic researchers

In this book the authors review the surgical management of patients with aortic disease. This often controversial area of management reveals many options open to cardiovascular specialist. This reference reviews each controversy and provides practical answers to the cardiac surgeon and will help them reveal the spectrum of disorders and their management.

International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. - Provides the most recent scholarly research in the study of developmental disabilities - A vast range of perspectives is offered, and many topics are covered - An excellent resource for academic researchers

Książka zawiera unikalny opis kilkudziesięciu scenariuszy historii naturalnej dorosłych z wrodzoną wadą serca pozostających pod opieką wyspecjalizowanych ośrodków dedykowanych wszechstronnej opiece tej grupy chorych. Przygotowane pod kierunkiem wybitnych autorytetów stanowią znakomity materiał edukacyjny, pomocny każdemu kardiologowi. Każde opracowanie bardzo szczegółowo analizuje przeszłość chorego, stan obecny, wyczerpująco opisuje wykonane badania dodatkowe, szczegółowo przedstawia wskazania do wykonania kolejnych badań obrazowych oraz ich opis. Całość składa się na ostateczne rozpoznanie, terapię i jej wynik bezpośredni i odległy. Pozycja stanowi doskonały materiał dydaktyczny skierowany do kardiologów i lekarzy innych specjalności opiekujących się dorosłymi z wrodzonymi wadami serca.

International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of developmental disabilities. Contributors come from wide-ranging perspectives, including genetics, psychology, education, and other health and behavioral sciences. Volume 41 of the series offers chapters on a variety of themes. - Provides the most recent scholarly research in the study of developmental disabilities - A vast range of perspectives is offered, and many topics are covered - An excellent resource for academic researchers

Książka zawiera unikalny opis kilkudziesięciu scenariuszy historii naturalnej dorosłych z wrodzoną wadą serca pozostających pod opieką wyspecjalizowanych ośrodków dedykowanych wszechstronnej opiece tej grupy chorych. Przygotowane pod kierunkiem wybitnych autorytetów stanowią znakomity materiał edukacyjny, pomocny każdemu kardiologowi. Każde opracowanie bardzo szczegółowo analizuje przeszłość chorego, stan obecny, wyczerpująco opisuje wykonane badania dodatkowe, szczegółowo przedstawia wskazania do wykonania kolejnych badań obrazowych oraz ich opis. Całość składa się na ostateczne rozpoznanie, terapię i jej wynik bezpośredni i odległy. Pozycja stanowi doskonały materiał dydaktyczny skierowany do kardiologów i lekarzy innych specjalności opiekujących się dorosłymi z wrodzonymi wadami serca.

This special issue is among the first volumes to examine the topic of early development in children with neurogenetic disorders associated with intellectual disability. It includes discussions of theoretical issues regarding the emergence of behavioural profiles during early development, as well as comprehensive accounts of early development in specific disorders such as Down syndrome, fragile X syndrome, Williams syndrome, and sex chromosome disorders. In addition, several contributions examine the latest clinical applications of this work for diagnosis, treatment, and education. - The comprehensive nature of the reviews of early development in neurogenetic disorders provided by top researchers in the field of developmental disabilities research - Innovation in the application of new approaches to this population, such dynamic systems theory and the developmental trajectory approach to studying these populations place this volume on the cutting edge of theoretical work in this area - This volume also addresses the implications of emerging behavioural phenotypes in neurogenetic disorders from many angles—the biological issues related to diagnosis, psychiatric issues related to comorbid conditions such as autism and autism spectrum disorder, and educational issues related to targeted intervention

With your heavy case load, you can't afford to waste time searching for answers. Cardiology, 3rd Edition, by Drs. Crawford, DiMarco, and Paulus, offers you just the practical, problem-based guidance you need to quickly overcome any clinical challenge. 8 color-coded sections cover the 8 major clinical syndromes of cardiovascular disease—each section a virtual'mini textbook'on its topic! 40 new chapters keep you up to date with the latest advances in the field, while more than 2,000 lavish, high-quality illustrations, color photographs, tables, and ECGs capture clinical manifestations as they present in practice. It's current, actionable information that you can put to work immediately for your patients!Offers a problem-based approach that integrates basic science, diagnostic investigations, and therapeutic management in one place for each cardiovascular disease so you can quickly find all of the actionable knowledge you need without flipping from one section to another. Features introductory bulleted highlights in each chapter that present the most pertinent information at a glance. Presents abundant algorithms to expedite clinical decision making. Includes more than 2,000 lavish, high-quality illustrations, color photographs, tables, and ECGs that capture clinical manifestations as they present in practice, and promote readability and retention.Includes 40 new chapters including Inherited Arrhythmia Syndromes, Implantable Cardioverter-Defibrillators and Cardiac Resynchronization Therapy in CHD, Management of the Cyanotic Patient with CHD, Special Problems for the Cardiology Consultant Dealing with Bariatric/Gastric Bypass — and many more — that equip you with all of the latest knowledge. Presents'Special Problem'sections—many new to this edition—that provide practical advice on problems that can be difficult to treat.

International Review of Research in Developmental Disabilities is an ongoing scholarly look at research into the causes, effects, classification systems, syndromes, etc. of mental retardation. This thematic volume,'Health Issues in Down Syndrome,'will cover health issues for individuals across the life span. With the life expectancy of individuals now reaching 60 years or more, it has transformed from an acute condition with a short life span to a chronic condition that needs to be managed over a close to normal life span. The extra chromosome 21 that defines most cases of Down syndrome affects the functioning of many biological processes and organ systems. The cascade of events triggered by the extra chromosome 21 creates a complex set of medical conditions needing to managed over the life span. The ability to manage these conditions has led to an improvement in longevity and quality of life for individuals with Down syndrome. - Provides the most recent scholarly research in the study of health issues in Down syndrome - A vast range of perspectives is offered, and many topics are covered - An excellent resource for academic researchers