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Author : Holly K. Tabor
Publisher :
ISBN 13 :
Total Pages : 248 pages
Book Rating : 4.:/5 (245 download)
Download or read book Candidate Gene Approaches for Studying the Genetics of Complex Traits written by Holly K. Tabor and published by . This book was released on 2002 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : D. C. Rao
Publisher : Academic Press
ISBN 13 :
Total Pages : 632 pages
Book Rating : 4.X/5 (4 download)
Download or read book Genetic Dissection of Complex Traits written by D. C. Rao and published by Academic Press. This book was released on 2001 with total page 632 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Dissection of Complex Traits will present the full range of methodologies that are essential for understanding the basis of human genetic disorders, the origin of such diseases, and theories on how to determine one's genetic predisposition to certain genetic diseases.
Author : D.C. Rao
Publisher : Academic Press
ISBN 13 : 0080569110
Total Pages : 788 pages
Book Rating : 4.0/5 (85 download)
Download or read book Genetic Dissection of Complex Traits written by D.C. Rao and published by Academic Press. This book was released on 2008-04-23 with total page 788 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Joseph B. Dube
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (16 download)
Download or read book Genetic Approaches to Studying Complex Human Disease written by Joseph B. Dube and published by . This book was released on 2013 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Common, complex diseases such as cardiovascular disease (CVD) represent an intricate interaction between environmental and genetic factors and now account for the leading causes of mortality in western society. By investigating the genetic component of complex disease etiology, we have gained a better understanding of the biological pathways underlying complex disease and the heterogeneity of complex disease risk. However, the development of high throughput genomic technologies and large well-phenotyped multi-ethnic cohorts has opened the door towards more in-depth and trans-disciplinary approaches to studying the genetics of complex disease pathogenesis. Accordingly, we sought to investigate select complex traits and diseases using both established and novel genomic technologies, including candidate gene resequencing, high-throughput targeted microarray genotyping and candidate variant genotyping. We demonstrate that a private and common variant, p.G116S, within the low-density lipoprotein receptor (LDLR) gene among Inuit descendants has a large effect on plasma cholesterol; that variation in cardio-metabolic and Alzheimer disease (AD) loci is not associated with susceptibility to the pre-dementia phenotype known as cognitive impairment, no dementia; and that established type 2 diabetes (T2D) variants are not associated with T2D susceptibility among select aboriginal Canadian and Greenland cohorts. Together, these studies represent a selection of established and novel genomic strategies for the investigation of complex disease genetics which are likely to remain fundamental in the continued investigation of complex disease pathogenesis.
Author : Theodore P. Beauchaine
Publisher : Oxford University Press, USA
ISBN 13 : 0199324670
Total Pages : 545 pages
Book Rating : 4.1/5 (993 download)
Download or read book The Oxford Handbook of Externalizing Spectrum Disorders written by Theodore P. Beauchaine and published by Oxford University Press, USA. This book was released on 2015-10-29 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Oxford Handbook of Externalizing Spectrum Disorders is the first book of its kind to capture the developmental psychopathology of externalizing spectrum disorders by examining causal factors across levels of analysis and developmental epochs, while departing from the categorical perspective.
Author : Yuan-Ming Zhang
Publisher : Frontiers Media SA
ISBN 13 : 2889458342
Total Pages : 236 pages
Book Rating : 4.8/5 (894 download)
Download or read book The Applications of New Multi-Locus GWAS Methodologies in the Genetic Dissection of Complex Traits written by Yuan-Ming Zhang and published by Frontiers Media SA. This book was released on 2019-06-19 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome-Wide Association Studies (GWAS) are widely used in the genetic dissection of complex traits. Most existing methods are based on single-marker association in genome-wide scans with population structure and polygenic background controls. To control the false positive rate, the Bonferroni correction for multiple tests is frequently adopted. This stringent correction results in the exclusion of important loci, especially for GWAS in crop genetics. To address this issue, multi-locus GWAS methodologies have been recommended, i.e., FASTmrEMMA, ISIS EM-BLASSO, mrMLM, FASTmrMLM, pLARmEB, pKWmEB and FarmCPU. In this Research Topic, our purpose is to clarify some important issues in the application of multi-locus GWAS methods. Here we discuss the following subjects: First, we discuss the advantages of new multi-locus GWAS methods over the widely-used single-locus GWAS methods in the genetic dissection of complex traits, metabolites and gene expression levels. Secondly, large experiment error in the field measurement of phenotypic values for complex traits in crop genetics results in relatively large P-values in GWAS, indicating the existence of small number of significantly associated SNPs. To solve this issue, a less stringent P-value critical value is often adopted, i.e., 0.001, 0.0001 and 1/m (m is the number of markers). Although lowering the stringency with which an association is made could identify more hits, confidence in these hits would significantly drop. In this Research Topic we propose a new threshold of significant QTN (LOD=3.0 or P-value=2.0e-4) in multi-locus GWAS to balance high power and low false positive rate. Thirdly, heritability missing in GWAS is a common phenomenon, and a series of scientists have explained the reasons why the heritability is missing. In this Research Topic, we also add one additional reason and propose the joint use of several GWAS methodologies to capture more QTNs. Thus, overall estimated heritability would be increased. Finally, we discuss how to select and use these multi-locus GWAS methods.
Author : Eleftheria Zeggini
Publisher : Academic Press
ISBN 13 : 0123751438
Total Pages : 353 pages
Book Rating : 4.1/5 (237 download)
Download or read book Analysis of Complex Disease Association Studies written by Eleftheria Zeggini and published by Academic Press. This book was released on 2010-11-17 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309171431
Total Pages : 388 pages
Book Rating : 4.3/5 (91 download)
Download or read book Cells and Surveys written by National Research Council and published by National Academies Press. This book was released on 2001-01-19 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.
Author : Andrew Robert Wood
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (855 download)
Download or read book Next Generation Genome-wide Association Studies in Complex Human Quantitative Traits written by Andrew Robert Wood and published by . This book was released on 2012 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 2005, genome-wide association (GWA) studies have dominated the field of complex traits. Genetic and environmental factors play a role in causing disease and influencing the variance of a quantitative trait. GWA is a hypothesis-free approach that follows on from candidate gene and linkage studies and has markedly increased the number of loci associated with complex traits. Despite the relative success of GWA studies in identifying several hundreds of phenotypic associations, the genetic component of most complex traits remains largely unaccounted for. The field has now begun to focus its, efforts on the "missing heritability" to enhance the understanding of genetics and the associated biological pathways that underlie the aetiology of complex phenotypes. This thesis presents a series of studies that attempt to address this issue by exploring other sources of variation and statistical models that have not been extensively addressed in GWA studies to date. Chapter 1 is an introduction to genome-wide association studies. In particular it describes the origins of these studies, what we have learnt from them as well as their limitations. Chapter 2 describes a study that shows how multiple signals within a single locus can explain more of the genetic component of a complex trait, using gene expression as a model trait. 2 Chapter 3 describes a study that tests for deviation from additivity (additivity is an assumption of most GWA studies to date) through dominant, recessive and gene-gene interaction analyses using height, body mass index, and waist-hip ratio (adjusted for BMI) as model phenotypes. Chapter 4 describes a study that examines how more signals may be identified by increasing the density of variants through 1000 Genomes based imputation compared to HapMap based imputation. I use 93 phenotypes, all circulating factors, including proteins, ions and vitamins. Chapter 5 describes a study that tests whether more association signals can be discovered through low-coverage whole-genome sequencing. In particular, I compare association testing based on 1000 Genomes based imputation and sequencing. I use gene expression as a model trait. Chapter 6 discusses the research findings from the previous chapters, presents conclusions, and describes future research plans in the field of complex traits for a fuller understanding of the role of genetics. 3.
Author : Ying Liu
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (133 download)
Download or read book A Unified Framework for TDT Analysis of Complex Traits in Families written by Ying Liu and published by . This book was released on 2001 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Statistical methods provide a means to draw inferences from genetic data, which can be done by looking at the association between a person's genetic makeup and their disease status. Many disease genes have been identified via statistical methods such as linkage analysis and transmission disequilibrium testing. The majority of these genes are involved in monogenic disease with simple patterns of inheritance. Now human genetics is beginning to study the genetics of complex diseases, such as hypertension, diabetes, cancers, and obesity. As their search for human disease genes progresses, investigators of complex traits are often interested in particular candidate genes and in the possibility that it is genes and environment in combination that determine the expression of discrete and continuous traits. This thesis presents a unified statistical approach to the evaluation of candidate genes in this context. A new transmission disequilibrium test (TDT) for the analysis of complex traits is developed in this thesis. A general score test is derived which applies to any member of the exponential family of distributions, which includes the Normal, Poisson, Binomial, Gamma, and Inverse Gaussian distributions. We can thus model normally distributed, positive-valued skewed, and binary traits. The genetic and environmental effects are modeled using a generalized linear model. Generalized estimation equations and random effect models are used to extend the method to arbitrary sibships and multiple traits. The approach provides great flexibility; in addition to handling both discrete and continuous traits, it can test alternative models which include dominance effects, gene-gene interaction, and gene-environment interaction. This provides the potential to detect complex genetic influences on a phenotype. A real dataset on Cystic Fibrosis disease is used to illustrate different applications of the new TDT method. A simulation study was performed to examine the power and the false positive rates of the new methods under various circumstances.
Author : Tony Frudakis Ph.D.
Publisher : Elsevier
ISBN 13 : 0080551378
Total Pages : 711 pages
Book Rating : 4.0/5 (85 download)
Download or read book Molecular Photofitting written by Tony Frudakis Ph.D. and published by Elsevier. This book was released on 2010-07-19 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the field of forensics, there is a critical need for genetic tests that can function in a predictive or inferential sense, before suspects have been identified, and/or for crimes for which DNA evidence exists but eye-witnesses do not. Molecular Photofitting fills this need by describing the process of generating a physical description of an individual from the analysis of his or her DNA. The molecular photofitting process has been used to assist with the identification of remains and to guide criminal investigations toward certain individuals within the sphere of prior suspects. Molecular Photofitting provides an accessible roadmap for both the forensic scientist hoping to make use of the new tests becoming available, and for the human genetic researcher working to discover the panels of markers that comprise these tests. By implementing population structure as a practical forensics and clinical genomics tool, Molecular Photofitting serves to redefine the way science and history look at ancestry and genetics, and shows how these tools can be used to maximize the efficacy of our criminal justice system. Explains how physical descriptions of individuals can be generated using only their DNA Contains case studies that show how this new forensic technology is used in practical application Includes over 100 diagrams, tables, and photos to illustrate and outline complex concepts
Author : Yixuan Chen
Publisher :
ISBN 13 :
Total Pages : 151 pages
Book Rating : 4.:/5 (74 download)
Download or read book Dissecting Genetic Basis of Complex Traits by Haplotype-based Association Studies and Integrated Information from Multiple Data Sources written by Yixuan Chen and published by . This book was released on 2010 with total page 151 pages. Available in PDF, EPUB and Kindle. Book excerpt: Characterization of genetic variation and dissection of genetic architectures of complex diseases is critical in understanding their intrinsic mechanisms. Haplotype methods have shown improved power and more consistent results comparing to single-locus based approaches. We propose a new haplotype-based association method for family data. Our approach (termed F_HapMiner) first infers diplotype pairs of each individual in each pedigree assuming no recombination within a family. A phenotype score is then defined for each founder haplotype. Finally, F_HapMiner applies a clustering algorithm on founder haplotypes based on their similarities and identifies haplotype clusters that show significant associations with diseases/traits. Comparisons with single-locus and haplotype-based Transmission Disequilibrium Test (TDT) methods demonstrate that our approach consistently outperforms the TDT-based approaches regardless of disease models, local Linkage Disequilibrium (LD) structures or allele/haplotype frequencies. Traditional linkage analysis and association study may result in hundreds of candidate genes. We propose an expandable framework for gene prioritization that can integrate multiple heterogenous data sources by taking advantage of a unified graphic representation. Gene-gene relationships and gene-disease relationships are then defined based on the overall topology of each network using the diffusion kernel measure. These relationship measures are in turn normalized to derive an overall measure across all networks, which is utilized to rank all candidate genes. Based on the informativeness of available data sources with respect to each specific disease, we also propose an adaptive threshold score to select a small subset of candidate genes for further validation studies. We performed large scale cross-validation analysis using three data sources based on protein interactions, gene expressions and pathway information. Results have shown that our approach consistently outperforms other two state-of-the-art programs. A web tool has been implemented to assist scientists in their genetic studies. Researchers commonly rely on simulated data to evaluate their approaches for detecting high-order interactions in disease gene mapping. A publicly available simulation program is of great interests. We have developed a computer program gs to quickly generate a large number of samples based on real data. Two approaches have been implemented to generate dense SNP haplotype/genotype data that share similar local LD patterns as those in human populations. The first approach takes haplotype pairs from samples as inputs, and the second approach takes patterns of haplotype block structures as inputs. The improved version of gs provides great functionalities and flexibilities to simulate various interaction models. Data generated can serve as a common ground to compare different approaches in detecting interactions.
Author : Sudheer Doss
Publisher :
ISBN 13 :
Total Pages : 252 pages
Book Rating : 4.:/5 ( download)
Download or read book The Dissection of Complex Disease written by Sudheer Doss and published by . This book was released on 2006 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309108675
Total Pages : 429 pages
Book Rating : 4.3/5 (91 download)
Download or read book Biosocial Surveys written by National Research Council and published by National Academies Press. This book was released on 2008-01-06 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.
Author : Reed E. Pyeritz
Publisher : Academic Press
ISBN 13 : 0128126809
Total Pages : 594 pages
Book Rating : 4.1/5 (281 download)
Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2019-09-04 with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Offers pathways for diagnosis, prevention and disease management Includes color images supporting identification, concept illustration and method processing Features contributions by leading international researchers and practitioners of medical genetics
Author : Gustavo Maroni
Publisher : Wiley-Blackwell
ISBN 13 : 9780632043699
Total Pages : 288 pages
Book Rating : 4.0/5 (436 download)
Download or read book Molecular and Genetic Analysis of Human Traits written by Gustavo Maroni and published by Wiley-Blackwell. This book was released on 2000-10-11 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular and Genetic Analysis of Human Traits will address the science student human genetics market. Although incorporating two basic themes: how do we establish that a trait is hereditary, and how is the human genome organized, it will also address relevant clinical examples and key related ethical issues. New attractive features have been added, including a chapter project, and end of chapter exercises which rely on real data. Each chapter includes end of chapter exercises, and references. In-text examples and internet references are cited. Most figures will be 2 color, with some 4 color inserts.
Author : William K. Scott
Publisher : John Wiley & Sons
ISBN 13 : 1118123913
Total Pages : 340 pages
Book Rating : 4.1/5 (181 download)
Download or read book Genetic Analysis of Complex Disease written by William K. Scott and published by John Wiley & Sons. This book was released on 2021-12-06 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
