Statistical Genetics


Book Description

Statistical Genetics is an advanced textbook focusing on conducting genome-wide linkage and association analysis in order to identify the genes responsible for complex behaviors and diseases. Starting with an introductory section on statistics and quantitative genetics, it covers both established and new methodologies, providing the genetic and statistical theory on which they are based. Each chapter is written by leading researchers, who give the reader the benefit of their experience with worked examples, study design, and sources of error. The text can be used in conjunction with an associated website (www.genemapping.org) that provides supplementary material and links to downloadable software.




The Statistics of Gene Mapping


Book Description

This book details the statistical concepts used in gene mapping, first in the experimental context of crosses of inbred lines and then in outbred populations, primarily humans. It presents elementary principles of probability and statistics, which are implemented by computational tools based on the R programming language to simulate genetic experiments and evaluate statistical analyses. Each chapter contains exercises, both theoretical and computational, some routine and others that are more challenging. The R programming language is developed in the text.




Genetic Data Analysis II


Book Description

Genetic Data Analysis II details the statistical methodology needed to draw inferences from discrete genetic data. An emphasis is given to permutation tests, and developments in phylogenetic tree construction are reviewed.







The Fundamentals of Modern Statistical Genetics


Book Description

This book covers the statistical models and methods that are used to understand human genetics, following the historical and recent developments of human genetics. Starting with Mendel’s first experiments to genome-wide association studies, the book describes how genetic information can be incorporated into statistical models to discover disease genes. All commonly used approaches in statistical genetics (e.g. aggregation analysis, segregation, linkage analysis, etc), are used, but the focus of the book is modern approaches to association analysis. Numerous examples illustrate key points throughout the text, both of Mendelian and complex genetic disorders. The intended audience is statisticians, biostatisticians, epidemiologists and quantitatively- oriented geneticists and health scientists wanting to learn about statistical methods for genetic analysis, whether to better analyze genetic data, or to pursue research in methodology. A background in intermediate level statistical methods is required. The authors include few mathematical derivations, and the exercises provide problems for students with a broad range of skill levels. No background in genetics is assumed.




Mapping and Sequencing the Human Genome


Book Description

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.




Finite Mixture Models


Book Description

An up-to-date, comprehensive account of major issues in finitemixture modeling This volume provides an up-to-date account of the theory andapplications of modeling via finite mixture distributions. With anemphasis on the applications of mixture models in both mainstreamanalysis and other areas such as unsupervised pattern recognition,speech recognition, and medical imaging, the book describes theformulations of the finite mixture approach, details itsmethodology, discusses aspects of its implementation, andillustrates its application in many common statisticalcontexts. Major issues discussed in this book include identifiabilityproblems, actual fitting of finite mixtures through use of the EMalgorithm, properties of the maximum likelihood estimators soobtained, assessment of the number of components to be used in themixture, and the applicability of asymptotic theory in providing abasis for the solutions to some of these problems. The author alsoconsiders how the EM algorithm can be scaled to handle the fittingof mixture models to very large databases, as in data miningapplications. This comprehensive, practical guide: * Provides more than 800 references-40% published since 1995 * Includes an appendix listing available mixture software * Links statistical literature with machine learning and patternrecognition literature * Contains more than 100 helpful graphs, charts, and tables Finite Mixture Models is an important resource for both applied andtheoretical statisticians as well as for researchers in the manyareas in which finite mixture models can be used to analyze data.







Biostatistical Genetics and Genetic Epidemiology


Book Description

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.




Analysis of Complex Disease Association Studies


Book Description

According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. - Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests - Extensive list of references including links to tutorial websites - Case studies and Tips and Tricks