Author :
Publisher :
Page : 234 pages
File Size : 46,88 MB
Release : 2014
Category :
ISBN : 9781321223958
Our study provides unique insights into the genetic susceptibility to melanoma and colonic diseases and demonstrates the successful incorporation of context in GWAS to elucidate complex disease genetics and biology. These findings will guide future studies aimed at identifying susceptibility genes for complex diseases.
Author : D.C. Rao
Publisher : Academic Press
Page : 788 pages
File Size : 25,56 MB
Release : 2008-04-23
Category : Medical
ISBN : 0080569110
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 : Florian Markowetz
Publisher : Cambridge University Press
Page : 287 pages
File Size : 23,46 MB
Release : 2015-07-02
Category : Science
ISBN : 131638098X
Whereas genetic studies have traditionally focused on explaining heritance of single traits and their phenotypes, recent technological advances have made it possible to comprehensively dissect the genetic architecture of complex traits and quantify how genes interact to shape phenotypes. This exciting new area has been termed systems genetics and is born out of a synthesis of multiple fields, integrating a range of approaches and exploiting our increased ability to obtain quantitative and detailed measurements on a broad spectrum of phenotypes. Gathering the contributions of leading scientists, both computational and experimental, this book shows how experimental perturbations can help us to understand the link between genotype and phenotype. A snapshot of current research activity and state-of-the-art approaches to systems genetics are provided, including work from model organisms such as Saccharomyces cerevisiae and Drosophila melanogaster, as well as from human studies.
Author : William K. Scott
Publisher : John Wiley & Sons
Page : 340 pages
File Size : 14,68 MB
Release : 2021-12-06
Category : Science
ISBN : 1118123913
Genetic Analysis of Complex Diseases An up-to-date and complete treatment of the strategies, designs and analysis methods for studying complex genetic disease in human beings In the newly revised Third Edition of Genetic Analysis of Complex Diseases, a team of distinguished geneticists delivers a comprehensive introduction to the most relevant strategies, designs and methods of analysis for the study of complex genetic disease in humans. The book focuses on concepts and designs, thereby offering readers a broad understanding of common problems and solutions in the field based on successful applications in the design and execution of genetic studies. This edited volume contains contributions from some of the leading voices in the area and presents new chapters on high-throughput genomic sequencing, copy-number variant analysis and epigenetic studies. Providing clear and easily referenced overviews of the considerations involved in genetic analysis of complex human genetic disease, including sampling, design, data collection, linkage and association studies and social, legal and ethical issues. Genetic Analysis of Complex Diseases also provides: A thorough introduction to study design for the identification of genes in complex traits Comprehensive explorations of basic concepts in genetics, disease phenotype definition and the determination of the genetic components of disease Practical discussions of modern bioinformatics tools for analysis of genetic data Reflecting on responsible conduct of research in genetic studies, as well as linkage analysis and data management New expanded chapter on complex genetic interactions This latest edition of Genetic Analysis of Complex Diseases is a must-read resource for molecular biologists, human geneticists, genetic epidemiologists and pharmaceutical researchers. It is also invaluable for graduate students taking courses in statistical genetics or genetic epidemiology.
Author : Sudheer Doss
Publisher :
Page : 252 pages
File Size : 17,2 MB
Release : 2006
Category :
ISBN :
Author : Eleftheria Zeggini
Publisher : Academic Press
Page : 353 pages
File Size : 12,23 MB
Release : 2010-11-17
Category : Medical
ISBN : 0123751438
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 : Hilary Kiyo Finucane
Publisher :
Page : 245 pages
File Size : 41,18 MB
Release : 2017
Category :
ISBN :
In this thesis, I introduce new methods for learning about diseases and traits from genetic data. First, I introduce a method for partitioning heritability by functional annotation from genome-wide association summary statistics, and I apply it to 17 diseases and traits and many different functional annotations. Next, I show how to apply this method to use gene expression data to identify diseaserelevant tissues and cell types. I next introduce a method for estimating genetic correlation from genome-wide association summary statistics and apply it to estimate genetic correlations between all pairs of 24 diseases and traits. Finally, I consider a model of disease subtypes and I show how to determine a lower bound on the sample size required to distinguish between two disease subtypes as a function of several parameters.
Author : Diana Chang
Publisher :
Page : 368 pages
File Size : 45,84 MB
Release : 2014
Category :
ISBN :
Over the past decade, the number of genome-wide association studies (GWAS) carried out has increased exponentially. These studies, mostly by investigating single nucleotide polymorphisms (SNPs), have discovered thousands of new loci associated to numerous complex diseases and traits, such as Crohn's Disease, Type-1 and Type-2 diabetes, height and body mass index. Unfortunately, there are several limitations to current GWAS. Firstly these newly discovered associations fail to explain all of the observed phenotypic variability attributed to genetic sources. This issue of missing heritability can be attributed to multiple sources such as rare variants, epigenetics and gene-gene interactions. Secondly, the majority of GWAS have not investigated the contribution of the sex chromosomes to complex disease. And thirdly, though comorbidity studies have well-established the overlap between some diseases, many initial GWAS focused on single phenotypes, and are only recently investigating the genetic overlap between various complex diseases (and traits). Here, we investigate and extend various aspects of GWAS to address these issues. First, we investigate the implication of rare or low frequency causal variants (SNPs with a minor allele frequency
Author : David J. Balding
Publisher : John Wiley & Sons
Page : 1828 pages
File Size : 44,59 MB
Release : 2019-07-09
Category : Science
ISBN : 1119429250
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 : Robert E. Page Jr.
Publisher : Harvard University Press
Page : 239 pages
File Size : 29,93 MB
Release : 2013-06-17
Category : Science
ISBN : 0674075560
Charles Darwin struggled to explain how forty thousand bees working in the dark, seemingly by instinct alone, could organize themselves to construct something as perfect as a honey comb. How do bees accomplish such incredible tasks? Synthesizing the findings of decades of experiments, The Spirit of the Hive presents a comprehensive picture of the genetic and physiological mechanisms underlying the division of labor in honey bee colonies and explains how bees’ complex social behavior has evolved over millions of years. Robert Page, one of the foremost honey bee geneticists in the world, sheds light on how the coordinated activity of hives arises naturally when worker bees respond to stimuli in their environment. The actions they take in turn alter the environment and so change the stimuli for their nestmates. For example, a bee detecting ample stores of pollen in the hive is inhibited from foraging for more, whereas detecting the presence of hungry young larvae will stimulate pollen gathering. Division of labor, Page shows, is an inevitable product of group living, because individual bees vary genetically and physiologically in their sensitivities to stimuli and have different probabilities of encountering and responding to them. A fascinating window into self-organizing regulatory networks of honey bees, The Spirit of the Hive applies genomics, evolution, and behavior to elucidate the details of social structure and advance our understanding of complex adaptive systems in nature.
