Genetic Analysis of Complex Disease
Genetic Analysis of Complex Disease

Author: Jonathan L. Haines

Publisher: Wiley-Liss

Published: 2006-05-05

Total Pages: 516

ISBN-13:

DOWNLOAD EBOOK

Provides a comprehensive introduction to the various strategies, designs, and methods of analysis for the study of human genetic disease. It offers a broad-based understanding of the problems and solutions based on successful applications in the design and execution of gene mapping projects. Chapters present clear and easily referenced overviews of the broad range of considerations involved in genetic analysis of human genetic disease, including design, sampling, data collection, linkage and association studies, and social, legal, and ethical issues. Incorporating all new discussion questions and practical examples within each chapter, the book significantly updates treatment of bioinformatics, multiple comparisons, sample size requirements, parametric linkage analysis, case-control and family based approaches, and genomic screening. It covers new methods for analysis of gene-gene and gene-environmental interactions, and features a complete rewrite of the chapter on determining genetic components of disease.

Analysis of Complex Disease Association Studies
Analysis of Complex Disease Association Studies

Author: Eleftheria Zeggini

Publisher: Academic Press

Published: 2010-11-17

Total Pages: 353

ISBN-13: 0123751438

DOWNLOAD EBOOK

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

Biostatistical Genetics and Genetic Epidemiology
Biostatistical Genetics and Genetic Epidemiology

Author: Robert C. Elston

Publisher: John Wiley & Sons

Published: 2002-04-22

Total Pages: 860

ISBN-13: 9780471486312

DOWNLOAD EBOOK

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.

Genetic Data Analysis II
Genetic Data Analysis II

Author: Bruce S. Weir

Publisher: Sinauer

Published: 1996

Total Pages: 466

ISBN-13:

DOWNLOAD EBOOK

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.

Assessing Genetic Risks
Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

DOWNLOAD EBOOK

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Finite Mixture Models
Finite Mixture Models

Author: Geoffrey McLachlan

Publisher: John Wiley & Sons

Published: 2004-03-22

Total Pages: 419

ISBN-13: 047165406X

DOWNLOAD EBOOK

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.

Genomics of Rare Diseases
Genomics of Rare Diseases

Author: Claudia Gonzaga-Jauregui

Publisher: Academic Press

Published: 2021-06-12

Total Pages: 318

ISBN-13: 0128204362

DOWNLOAD EBOOK

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

DNA Methylation and Complex Human Disease
DNA Methylation and Complex Human Disease

Author: Michel Neidhart

Publisher: Academic Press

Published: 2015-08-11

Total Pages: 546

ISBN-13: 0127999205

DOWNLOAD EBOOK

DNA Methylation and Complex Human Disease reviews the possibilities of methyl-group-based epigenetic biomarkers of major diseases, tailored epigenetic therapies, and the future uses of high-throughput methylome technologies. This volume includes many pertinent advances in disease-bearing research, including obesity, type II diabetes, schizophrenia, and autoimmunity. DNA methylation is also discussed as a plasma and serum test for non-invasive screening, diagnostic and prognostic tests, as compared to biopsy-driven gene expression analysis, factors which have led to the use of DNA methylation as a potential tool for determining cancer risk, and diagnosis between benign and malignant disease. Therapies are at the heart of this volume and the possibilities of DNA demethylation. In cancer, unlike genetic mutations, DNA methylation and histone modifications are reversible and thus have shown great potential in the race for effective treatments. In addition, the authors present the importance of high-throughput methylome analysis, not only in cancer, but also in non-neoplastic diseases such as rheumatoid arthritis. - Discusses breaking biomarker research in major disease families of current health concern and research interest, including obesity, type II diabetes, schizophrenia, and autoimmunity - Summarizes advances not only relevant to cancer, but also in non-neoplastic disease, currently an emerging field - Describes wholly new concepts, including the linking of metabolic pathways with epigenetics - Provides translational researchers with the knowledge of both basic research and clinic applications of DNA methylation in human diseases

Computational Epigenetics and Diseases
Computational Epigenetics and Diseases

Author:

Publisher: Academic Press

Published: 2019-02-06

Total Pages: 452

ISBN-13: 0128145145

DOWNLOAD EBOOK

Computational Epigenetics and Diseases, written by leading scientists in this evolving field, provides a comprehensive and cutting-edge knowledge of computational epigenetics in human diseases. In particular, the major computational tools, databases, and strategies for computational epigenetics analysis, for example, DNA methylation, histone modifications, microRNA, noncoding RNA, and ceRNA, are summarized, in the context of human diseases. This book discusses bioinformatics methods for epigenetic analysis specifically applied to human conditions such as aging, atherosclerosis, diabetes mellitus, schizophrenia, bipolar disorder, Alzheimer disease, Parkinson disease, liver and autoimmune disorders, and reproductive and respiratory diseases. Additionally, different organ cancers, such as breast, lung, and colon, are discussed. This book is a valuable source for graduate students and researchers in genetics and bioinformatics, and several biomedical field members interested in applying computational epigenetics in their research. - Provides a comprehensive and cutting-edge knowledge of computational epigenetics in human diseases - Summarizes the major computational tools, databases, and strategies for computational epigenetics analysis, such as DNA methylation, histone modifications, microRNA, noncoding RNA, and ceRNA - Covers the major milestones and future directions of computational epigenetics in various kinds of human diseases such as aging, atherosclerosis, diabetes, heart disease, neurological disorders, cancers, blood disorders, liver diseases, reproductive diseases, respiratory diseases, autoimmune diseases, human imprinting disorders, and infectious diseases

Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research
Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research

Author: Robert T. Gerlai

Publisher: Academic Press

Published: 2018-04-24

Total Pages: 710

ISBN-13: 0128041161

DOWNLOAD EBOOK

Molecular-Genetic and Statistical Techniques for Behavioral and Neural Research presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior, a critical piece of the puzzle for clinicians, scientists, course instructors and advanced undergraduate and graduate students. Chapters examine neuroinformatics, genetic and neurobehavioral databases and data mining, also providing an analysis of natural genetic variation and principles and applications of forward (mutagenesis) and reverse genetics (gene targeting). In addition, the book discusses gene expression and its role in brain function and behavior, along with ethical issues in the use of animals in genetics testing. Written and edited by leading international experts, this book provides a clear presentation of the frontiers of basic research as well as translationally relevant techniques that are used by neurobehavioral geneticists. - Focuses on new techniques, including electrocorticography, functional mapping, stereo EEG, motor evoked potentials, optical coherence tomography, magnetoencephalography, laser evoked potentials, transmagnetic stimulation, and motor evoked potentials - Presents the most exciting molecular and recombinant DNA techniques used in the analysis of brain function and behavior - Written and edited by leading international experts