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Author: Eleftheria Zeggini
Publisher: Academic Press
ISBN: 0123751438
Category : Medical
Languages : en
Pages : 353
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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
Author: Eleftheria Zeggini
Publisher: Academic Press
ISBN: 0123751438
Category : Medical
Languages : en
Pages : 353
Get Book Here
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
Author: D.C. Rao
Publisher: Academic Press
ISBN: 0080569110
Category : Medical
Languages : en
Pages : 788
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Book Description
The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Five sections on the latest advances in complex traits Methods for testing with ethical, legal, and social implications Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more
Author: Bruce S. Weir
Publisher: Sinauer
ISBN:
Category : Medical
Languages : en
Pages : 466
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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.
Author: Benjamin Neale
Publisher: Garland Science
ISBN: 1134129335
Category : Science
Languages : en
Pages : 608
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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.
Author: Rongling Wu
Publisher: Springer Science & Business Media
ISBN: 038768154X
Category : Science
Languages : en
Pages : 371
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Book Description
This book introduces the basic concepts and methods that are useful in the statistical analysis and modeling of the DNA-based marker and phenotypic data that arise in agriculture, forestry, experimental biology, and other fields. It concentrates on the linkage analysis of markers, map construction and quantitative trait locus (QTL) mapping, and assumes a background in regression analysis and maximum likelihood approaches. The strength of this book lies in the construction of general models and algorithms for linkage analysis, as well as in QTL mapping in any kind of crossed pedigrees initiated with inbred lines of crops.
Author: Geoffrey McLachlan
Publisher: John Wiley & Sons
ISBN: 047165406X
Category : Mathematics
Languages : en
Pages : 419
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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.
Author: David J. Balding
Publisher: John Wiley & Sons
ISBN: 1119429250
Category : Science
Languages : en
Pages : 1740
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Book Description
A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.
Author: Catherine Feuillet
Publisher: Springer Science & Business Media
ISBN: 0387774890
Category : Science
Languages : en
Pages : 774
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Book Description
Sequencing of the model plant genomes such as those of A. thaliana and rice has revolutionized our understanding of plant biology but it has yet to translate into the improvement of major crop species such as maize, wheat, or barley. Moreover, the comparative genomic studies in cereals that have been performed in the past decade have revealed the limits of conservation between rice and the other cereal genomes. This has necessitated the development of genomic resources and programs for maize, sorghum, wheat, and barley to serve as the foundation for future genome sequencing and the acceleration of genomic based improvement of these critically important crops. Cereals constitute over 50% of total crop production worldwide (http://www.fao.org/) and cereal seeds are one of the most important renewable resources for food, feed, and industrial raw materials. Crop species of the Triticeae tribe that comprise wheat, barley, and rye are essential components of human and domestic animal nutrition. With 17% of all crop area, wheat is the staple food for 40% of the world’s population, while barley ranks fifth in the world production. Their domestication in the Fertile Crescent 10,000 years ago ushered in the beginning of agriculture and signified an important breakthrough in the advancement of civilization. Rye is second after wheat among grains most commonly used in the production of bread and is also very important for mixed animal feeds. It can be cultivated in poor soils and climates that are generally not suitable for other cereals. Extensive genetics and cytogenetics studies performed in the Triticeae species over the last 50 years have led to the characterization of their chromosomal composition and origins and have supported intensive work to create new genetic resources. Cytogenetic studies in wheat have allowed the identification and characterization of the different homoeologous genomes and have demonstrated the utility of studying wheat genome evolution as a model for the analysis of polyploidization, a major force in the evolution of the eukaryotic genomes. Barley with its diploid genome shows high collinearity with the other Triticeae genomes and therefore serves as a good template for supporting genomic analyses in the wheat and rye genomes. The knowledge gained from genetic studies in the Triticeae has also been used to produce Triticale, the first human made hybrid crop that results from a cross between wheat and rye and combines the nutrition quality and productivity of wheat with the ruggedness of rye. Despite the economic importance of the Triticeae species and the need for accelerated crop improvement based on genomics studies, the size (1.7 Gb for the bread wheat genome, i.e., 5x the human genome and 40 times the rice genome), high repeat content (>80%), and complexity (polyploidy in wheat) of their genomes often have been considered too challenging for efficient molecular analysis and genetic improvement in these species. Consequently, Triticeae genomics has lagged behind the genomic advances of other cereal crops for many years. Recently, however, the situation has changed dramatically and robust genomic programs can be established in the Triticeae as a result of the convergence of several technology developments that have led to new, more efficient scientific capabilities and resources such as whole-genome and chromosome-specific BAC libraries, extensive EST collections, transformation systems, wild germplasm and mutant collections, as well as DNA chips. Currently, the Triticeae genomics "toolbox" is comprised of: - 9 publicly available BAC libraries from diploid (5), tetraploid (1) and hexaploid (3) wheat; 3 publicly available BAC libraries from barley and one BAC library from rye; - 3 wheat chromosome specific BAC libraries; - DNA chips including commercially available first generation chips from AFFYMETRIX containing 55’000 wheat and 22,000 barley genes; - A large number of wheat and barley genetic maps that are saturated by a significant number of markers; - The largest plant EST collection with 870’000 wheat ESTs, 440’000 barley ESTs and about 10’000 rye ESTs; - Established protocols for stable transformation by biolistic and agrobacterium as well as a transient expression system using VIGS in wheat and barley; and - Large collections of well characterized cultivated and wild genetic resources. International consortia, such as the International Triticeae Mapping Initiative (ITMI), have advanced synergies in the Triticeae genetics community in the development of additional mapping populations and markers that have led to a dramatic improvement in the resolution of the genetic maps and the amount of molecular markers in the three species resulting in the accelerated utilization of molecular markers in selection programs. Together, with the development of the genomic resources, the isolation of the first genes of agronomic interest by map-based cloning has been enabled and has proven the feasibility of forging the link between genotype and phenotype in the Triticeae species. Moreover, the first analyses of BAC sequences from wheat and barley have allowed preliminary characterizations of their genome organization and composition as well as the first inter- and intra-specific comparative genomic studies. These later have revealed important evolutionary mechanisms (e.g. unequal crossing over, illegitimate recombination) that have shaped the wheat and barley genomes during their evolution. These breakthroughs have demonstrated the feasibility of developing efficient genomic studies in the Triticeae and have led to the recent establishment of the International Wheat Genome Sequencing Consortium (IWGSC) (http//:www.wheatgenome.org) and the International Barley Sequencing Consortium (www.isbc.org) that aim to sequence, respectively, the hexaploid wheat and barley genomes to accelerate gene discovery and crop improvement in the next decade. Large projects aiming at the establishment of the physical maps as well as a better characterization of their composition and organization through large scale random sequencing projects have been initiated already. Concurrently, a number of projects have been launched to develop high throughput functional genomics in wheat and barley. Transcriptomics, proteomics, and metabolomics analyses of traits of agronomic importance, such as quality, disease resistance, drought, and salt tolerance, are underway in both species. Combined with the development of physical maps, efficient gene isolation will be enabled and improved sequencing technologies and reduced sequencing costs will permit ultimately genome sequencing and access to the entire wheat and barley gene regulatory elements repertoire. Because rye is closely related to wheat and barley in Triticeae evolution, the latest developments in wheat and barley genomics will be of great use for developing rye genomics and for providing tools for rye improvement. Finally, a new model for temperate grasses has emerged in the past year with the development of the genetics and genomics (including a 8x whole genome shotgun sequencing project) of Brachypodium, a member of the Poeae family that is more closely related to the Triticeae than rice and can provide valuable information for supporting Triticeae genomics in the near future. These recent breakthroughs have yet to be reviewed in a single source of literature and current handbooks on wheat, barley, or rye are dedicated mainly to progress in genetics. In "Genetics and Genomics of the Triticeae", we will aim to comprehensively review the recent progress in the development of structural and functional genomics tools in the Triticeae species and review the understanding of wheat, barley, and rye biology that has resulted from these new resources as well as to illuminate how this new found knowledge can be applied for the improvement of these essential species. The book will be the seventh volume in the ambitious series of books, Plant Genetics and Genomics (Richard A. Jorgensen, series editor) that will attempt to bring the field up-to-date on the genetics and genomics of important crop plants and genetic models. It is our hope that the publication will be a useful and timely tool for researchers and students alike working with the Triticeae.
Author: Nan M. Laird
Publisher: Springer Science & Business Media
ISBN: 1441973389
Category : Medical
Languages : en
Pages : 226
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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.
Author: Krishnarao Appasani
Publisher: Cambridge University Press
ISBN: 1107042763
Category : Medical
Languages : en
Pages : 449
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Book Description
Experts from academia and industry highlight the potential of genome-wide association studies from basic science to clinical and biotechnological/pharmaceutical applications.
