This book brings together leading experts to provide an introduction to genetic epidemiology that begins with a primer in human molecular genetics through all the standard methods in population genetics and genetic epidemiology required for an adequate grounding in the field.
This text integrates the principles, methods and approaches of epidemiology and genetics in the study of disease aetiology. The authors define the central theme of genetic epidemiology as the study of the role of genetic factors and their interaction with environmental factors in the occurrence of disease in populations.
Human Genetics concerns the study of genetic forces in man. By studying our genetic make-up we are able to understand more about our heritage and evolution. Some of the original, and most significant research in genetics centred around the study of the genetics of complex diseases - genetic epidemiology. This is the third in a highly successful series of books based on articles from the Encyclopedia of Biostatistics. This volume will be a timely and comprehensive reference, for a subject that has seen a recent explosion of interest following the completion of the first draft of the Human Genome Mapping Project. The editors have updated the articles from the Human Genetics section of the EoB, have adpated other articles to give them a genetic feel, and have included a number of newly commissioned articles to ensure the work is comprehensive and provides a self-contained reference.
A comprehensive introduction to modern applied statistical genetic data analysis, accessible to those without a background in molecular biology or genetics. Human genetic research is now relevant beyond biology, epidemiology, and the medical sciences, with applications in such fields as psychology, psychiatry, statistics, demography, sociology, and economics. With advances in computing power, the availability of data, and new techniques, it is now possible to integrate large-scale molecular genetic information into research across a broad range of topics. This book offers the first comprehensive introduction to modern applied statistical genetic data analysis that covers theory, data preparation, and analysis of molecular genetic data, with hands-on computer exercises. It is accessible to students and researchers in any empirically oriented medical, biological, or social science discipline; a background in molecular biology or genetics is not required. The book first provides foundations for statistical genetic data analysis, including a survey of fundamental concepts, primers on statistics and human evolution, and an introduction to polygenic scores. It then covers the practicalities of working with genetic data, discussing such topics as analytical challenges and data management. Finally, the book presents applications and advanced topics, including polygenic score and gene-environment interaction applications, Mendelian Randomization and instrumental variables, and ethical issues. The software and data used in the book are freely available and can be found on the book's website.
This volume details fast-moving research while providing in-depth descriptions of methods and analytical approaches that are helping to understand the genome and how it is related to complex diseases. Chapters guide the reader through common and rare variation, gene-gene and gene-environment interactions and state-of-the-art approaches for the synthesis of genome-wide and gene expression data. Novel approaches for associations in the HLA region, family-based designs, Mendelian Randomization and Copy Number Variation are also presented. The volume concludes with the challenges researchers face while moving from identifying variants to their functional role and potential drug targets. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, a thorough presentation of methods and approaches and tips on troubleshooting and avoiding known pitfalls.
Today, the public worries about emerging diseases and rapid changes of the frequency of well known diseases like autism, diabetes and obesity making the word epidemic part of the general discussion. Epidemiology should therefore be a basic component of medical training, yet often it is undertaught or even neglected. Concise and readable while also rigorous and thorough, An Introduction to Epidemiology for Health Professionals goes beyond standard textbook content to ground the reader in scientific methods most relevant to the current health landscape and the evolution of evidence-based medicine—valuable keys to better understanding of disease process, effective prevention, and targeted treatment.
Anyone who attempts to read genetics or epidemiology research literature needs to understand the essentials of biostatistics. This book, a revised new edition of the successful Essentials of Biostatistics has been written to provide such an understanding to those who have little or no statistical background and who need to keep abreast of new findings in this fast moving field. Unlike many other elementary books on biostatistics, the main focus of this book is to explain basic concepts needed to understand statistical procedures. This Book: Surveys basic statistical methods used in the genetics and epidemiology literature, including maximum likelihood and least squares. Introduces methods, such as permutation testing and bootstrapping, that are becoming more widely used in both genetic and epidemiological research. Is illustrated throughout with simple examples to clarify the statistical methodology. Explains Bayes’ theorem pictorially. Features exercises, with answers to alternate questions, enabling use as a course text. Written at an elementary mathematical level so that readers with high school mathematics will find the content accessible. Graduate students studying genetic epidemiology, researchers and practitioners from genetics, epidemiology, biology, medical research and statistics will find this an invaluable introduction to statistics.
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.
The book illustrates how biostatistics may numerically summarize human genetic epidemiology using R, and may be used successfully to solve problems in quantitative Genetic Epidemiology Biostatistics for Human Genetic Epidemiology provides statistical methodologies and R recipes for human genetic epidemiologic problems. It begins by introducing all the necessary probabilistic and statistical foundations, before moving on to topics related human genetic epidemiology, with R codes illustrations for various examples. This clear and concise book covers human genetic epidemiology, using R in data analysis, including multivariate data analysis. It examines probabilistic and statistical theories for modeling human genetic epidemiology – leading the readers through an effective epidemiologic model, from simple to advanced levels. Classical mathematical, probabilistic, and statistical theory are thoroughly discussed and presented. This book also presents R as a calculator and using R in data analysis. Additionally, it covers Advanced Human Genetic Data Concepts, the Study of Human Genetic Variation, Manhattan Plots, as well as the Procedures for Multiple Comparison. Numerous Worked Examples are provided for illustrations of concepts and real-life applications. Biostatistics for Human Genetic Epidemiology is an ideal reference for professionals and students in Medicine (particularly in Preventive Medicine and Public Health Medical Practices), as well as in Genetics, Epidemiology, and Biostatistics.
The Handbook for Statistical Genetics is widely regarded as the reference work in the field. However, the field has developed considerably over the past three years. In particular the modeling of genetic networks has advanced considerably via the evolution of microarray analysis. As a consequence the 3rd edition of the handbook contains a much expanded section on Network Modeling, including 5 new chapters covering metabolic networks, graphical modeling and inference and simulation of pedigrees and genealogies. Other chapters new to the 3rd edition include Human Population Genetics, Genome-wide Association Studies, Family-based Association Studies, Pharmacogenetics, Epigenetics, Ethic and Insurance. As with the second Edition, the Handbook includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between the chapters, tying the different areas together. With heavy use of up-to-date examples, real-life case studies and references to web-based resources, this continues to be must-have reference in a vital area of research. Edited by the leading international authorities in the field. David Balding - Department of Epidemiology & Public Health, Imperial College An advisor for our Probability & Statistics series, Professor Balding is also a previous Wiley author, having written Weight-of-Evidence for Forensic DNA Profiles, as well as having edited the two previous editions of HSG. With over 20 years teaching experience, he’s also had dozens of articles published in numerous international journals. Martin Bishop – Head of the Bioinformatics Division at the HGMP Resource Centre As well as the first two editions of HSG, Dr Bishop has edited a number of introductory books on the application of informatics to molecular biology and genetics. He is the Associate Editor of the journal Bioinformatics and Managing Editor of Briefings in Bioinformatics. Chris Cannings – Division of Genomic Medicine, University of Sheffield With over 40 years teaching in the area, Professor Cannings has published over 100 papers and is on the editorial board of many related journals. Co-editor of the two previous editions of HSG, he also authored a book on this topic.