Download or read book Statistical Methods Computing and Resources for Genome Wide Association Studies written by Riyan Cheng and published by Frontiers Media SA. This book was released on 2021-08-24 with total page 148 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Methods in Statistical Genomics written by Philip Chester Cooley and published by RTI Press. This book was released on 2016-08-29 with total page 163 pages. Available in PDF, EPUB and Kindle. Book excerpt: The objective of this book is to describe procedures for analyzing genome-wide association studies (GWAS). Some of the material is unpublished and contains commentary and unpublished research; other chapters (Chapters 4 through 7) have been published in other journals. Each previously published chapter investigates a different genomics model, but all focus on identifying the strengths and limitations of various statistical procedures that have been applied to different GWAS scenarios.
Download or read book The Fundamentals of Modern Statistical Genetics written by Nan M. Laird and published by Springer Science & Business Media. This book was released on 2010-12-13 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Statistical Methods for Genome Wide Association Studies on Biobank Data written by Christopher Austin German and published by . This book was released on 2021 with total page 162 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome-Wide Association Studies (GWAS) encompass an important area of statistical genetics. They seek to identify single-nucleotide polymorphisms (SNPs) that are associated with a trait of interest. It is becoming more common for large-scale resources of patient data such as biobanks to become available to researchers that include both genetic data and phenotype data from electronic health records (EHR). New techniques for GWAS are necessary to handle both the large sample sizes and the types of complex data generated from these resources. The first chapter aims to tackle both of these issues by establishing an efficient method of conducting a genome-wide scan of SNPs associated with ordinal traits, which commonly occur from phenotyping algorithms for complex diseases. Chapter two focuses on estimating the effects of covariates on intra-individual variances in a framework that can scale to big longitudinal data. Within-subject variances of traits such as blood pressure have been found to be risk factors, independent of mean levels, for a variety of conditions such as cardiovascular disease. We develop a weighted method of moments (MoM) framework for fitting a mixed effects location-scale model that is robust to distributional assumptions and is computationally tractable for biobank-sized data sets. The third chapter uses the framework from the second chapter to develop and conduct large-scale GWAS, identifying variants associated with intra-individual variability of longitudinal traits. In all of these projects, a main focus is ensuring that the methods can scale to the large sample sizes common in biobank data sets.
Download or read book Design Analysis and Interpretation of Genome Wide Association Scans written by Daniel O. Stram and published by Springer Science & Business Media. This book was released on 2013-11-23 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the statistical aspects of designing, analyzing and interpreting the results of genome-wide association scans (GWAS studies) for genetic causes of disease using unrelated subjects. Particular detail is given to the practical aspects of employing the bioinformatics and data handling methods necessary to prepare data for statistical analysis. The goal in writing this book is to give statisticians, epidemiologists, and students in these fields the tools to design a powerful genome-wide study based on current technology. The other part of this is showing readers how to conduct analysis of the created study. Design and Analysis of Genome-Wide Association Studies provides a compendium of well-established statistical methods based upon single SNP associations. It also provides an introduction to more advanced statistical methods and issues. Knowing that technology, for instance large scale SNP arrays, is quickly changing, this text has significant lessons for future use with sequencing data. Emphasis on statistical concepts that apply to the problem of finding disease associations irrespective of the technology ensures its future applications. The author includes current bioinformatics tools while outlining the tools that will be required for use with extensive databases from future large scale sequencing projects. The author includes current bioinformatics tools while outlining additional issues and needs arising from the extensive databases from future large scale sequencing projects.
Download or read book Statistical Methods for Genome Wide Association Studies written by Malin Östensson and published by . This book was released on 2012 with total page 181 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Analysis of Genetic Association Studies written by Gang Zheng and published by Springer Science & Business Media. This book was released on 2012-01-11 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: Analysis of Genetic Association Studies is both a graduate level textbook in statistical genetics and genetic epidemiology, and a reference book for the analysis of genetic association studies. Students, researchers, and professionals will find the topics introduced in Analysis of Genetic Association Studies particularly relevant. The book is applicable to the study of statistics, biostatistics, genetics and genetic epidemiology. In addition to providing derivations, the book uses real examples and simulations to illustrate step-by-step applications. Introductory chapters on probability and genetic epidemiology terminology provide the reader with necessary background knowledge. The organization of this work allows for both casual reference and close study.
Download or read book Applied Statistical Genetics with R written by Andrea S. Foulkes and published by Springer Science & Business Media. This book was released on 2009-04-28 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt: Statistical genetics has become a core course in many graduate programs in public health and medicine. This book presents fundamental concepts and principles in this emerging field at a level that is accessible to students and researchers with a first course in biostatistics. Extensive examples are provided using publicly available data and the open source, statistical computing environment, R.
Download or read book Omic Association Studies with R and Bioconductor written by Juan R. González and published by CRC Press. This book was released on 2019-06-14 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: After the great expansion of genome-wide association studies, their scientific methodology and, notably, their data analysis has matured in recent years, and they are a keystone in large epidemiological studies. Newcomers to the field are confronted with a wealth of data, resources and methods. This book presents current methods to perform informative analyses using real and illustrative data with established bioinformatics tools and guides the reader through the use of publicly available data. Includes clear, readable programming codes for readers to reproduce and adapt to their own data. Emphasises extracting biologically meaningful associations between traits of interest and genomic, transcriptomic and epigenomic data Uses up-to-date methods to exploit omic data Presents methods through specific examples and computing sessions Supplemented by a website, including code, datasets, and solutions
Download or read book Phenotypes and Genotypes written by Florian Frommlet and published by Springer. This book was released on 2016-01-06 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the methodology of association mapping in experimental populations and genome-wide association studies (GWAS). The main emphasis is placed on methods based on modifications of the Bayesian information criterion, designed specifically to handle multiple testing problems in large-scale genome scans for trait loci (TL). The book is written at the level of a graduate course for bioinformatics students. The first chapter introduces the major concepts of quantitative trait loci (QTL) mapping. The second chapter discusses the methodology of QTL mapping in experimental populations, with the main emphasis on the related issues of model selection in linear models. The approach is then extended to TL via generalized linear models. Chapter three describes the methods for GWAS and related multiple testing and model selection problems. In both chapters two and three the properties of QTL mapping methods are illustrated with computer simulations and real data analysis.
Download or read book Statistical Methods for Genome wide Association Studies and Personalized Medicine written by and published by . This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In genome-wide association studies (GWAS), researchers analyze the genetic variation across the entire human genome, searching for variations that are associated with observable traits or certain diseases. There are several inference challenges, including the huge number of genetic markers to test, the weak association between truly associated markers and the traits, and the correlation structure between the genetic markers. We discuss the problem of high dimensional statistical inference, especially capturing the dependence among multiple hypotheses. Chapter 3 proposes a feature selection approach based on a unique graphical model which can leverage correlation structure among the markers. This graphical model-based feature selection approach significantly outperforms the conventional feature selection methods used in GWAS. Chapter 4 reformulates this feature selection approach as a multiple testing procedure that has many elegant properties, including controlling false discovery rate at a specified level and significantly improving the power of the tests. In order to relax the parametric assumption within the model, Chapter 5 further proposes a semiparametric graphical model which estimates f1 adaptively. These statistical methods are based on graphical models, and their parameter learning is difficult due to the intractable normalization constant. Capturing the hidden patterns and heterogeneity within the parameters is even harder. Chapters 6 and 7 discuss the problem of learning large-scale graphical models, especially dealing with issues of heterogeneous parameters and latently-grouped parameters. Chapter 6 proposes a nonparametric approach which can adaptively integrate background knowledge about how the different parts of the graph can vary. For learning latently-grouped parameters in undirected graphical models, Chapter 7 imposes Dirichlet process priors over the parameters and estimates the parameters in a Bayesian framework. Chapter 8 explores the potential translation of GWAS discoveries to clinical breast cancer diagnosis. We discovered that, using SNPs known to be associated with breast cancer, we can better stratify patients and thereby significantly reduce false positives during breast cancer diagnosis, alleviating the risk of overdiagnosis. This result suggests that when radiologists are making medical decisions from mammograms (such as suggesting follow-up biopsies), they can consider these risky SNPs for more accurate decisions if the patients' genotype data are available.
Download or read book Assessing Gene Environment Interactions in Genome Wide Association Studies Statistical Approaches written by Philip C. Cooley and published by RTI Press. This book was released on 2014-05-14 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this report, we address a scenario that uses synthetic genotype case-control data that is influenced by environmental factors in a genome-wide association study (GWAS) context. The precise way the environmental influence contributes to a given phenotype is typically unknown. Therefore, our study evaluates how to approach a GWAS that may have an environmental component. Specifically, we assess different statistical models in the context of a GWAS to make association predictions when the form of the environmental influence is questionable. We used a simulation approach to generate synthetic data corresponding to a variety of possible environmental-genetic models, including a “main effects only” model as well as a “main effects with interactions” model. Our method takes into account the strength of the association between phenotype and both genotype and environmental factors, but we focus on low-risk genetic and environmental risks that necessitate using large sample sizes (N = 10,000 and 200,000) to predict associations with high levels of confidence. We also simulated different Mendelian gene models, and we analyzed how the collection of factors influences statistical power in the context of a GWAS. Using simulated data provides a “truth set” of known outcomes such that the association-affecting factors can be unambiguously determined. We also test different statistical methods to determine their performance properties. Our results suggest that the chances of predicting an association in a GWAS is reduced if an environmental effect is present and the statistical model does not adjust for that effect. This is especially true if the environmental effect and genetic marker do not have an interaction effect. The functional form of the statistical model also matters. The more accurately the form of the environmental influence is portrayed by the statistical model, the more accurate the prediction will be. Finally, even with very large samples sizes, association predictions involving recessive markers with low risk can be poor
Download or read book Statistical Genetics written by Benjamin Neale and published by Garland Science. This book was released on 2007-11-30 with total page 608 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Integrative Analysis of Genome Wide Association Studies and Single Cell Sequencing Studies written by Sheng Yang and published by Frontiers Media SA. This book was released on 2021-09-09 with total page 113 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Statistical Methods for Detecting Genetic Risk Factors of a Disease with Applications to Genome wide Association Studies written by Fadhaa Ali and published by . This book was released on 2015 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Statistical Methods in Genetic Epidemiology written by Duncan C. Thomas and published by Oxford University Press. This book was released on 2004-01-29 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: This well-organized and clearly written text has a unique focus on methods of identifying the joint effects of genes and environment on disease patterns. It follows the natural sequence of research, taking readers through the study designs and statistical analysis techniques for determining whether a trait runs in families, testing hypotheses about whether a familial tendency is due to genetic or environmental factors or both, estimating the parameters of a genetic model, localizing and ultimately isolating the responsible genes, and finally characterizing their effects in the population. Examples from the literature on the genetic epidemiology of breast and colorectal cancer, among other diseases, illustrate this process. Although the book is oriented primarily towards graduate students in epidemiology, biostatistics and human genetics, it will also serve as a comprehensive reference work for researchers. Introductory chapters on molecular biology, Mendelian genetics, epidemiology, statistics, and population genetics will help make the book accessible to those coming from one of these fields without a background in the others. It strikes a good balance between epidemiologic study designs and statistical methods of data analysis.
Download or read book Statistical Methods for Transcriptome wide Association Studies in Ancestrally Diverse Populations written by Anna V. Mikhaylova and published by . This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Transcriptome-wide association studies (TWAS) have become more commonly used in recent years. TWAS integrate genome-wide association studies (GWAS) with gene expression mapping studies in order to identify genes whose gene expression is associated with the phenotype. The main goals of TWAS are in providing insights into biological mechanisms underlying disease etiology and in helping interpret the results of GWAS. TWAS conducted in large-scale ancestrally diverse cohorts face multiple challenges, including the presence of population structure, known or cryptic relatedness and heterogeneity in phenotypic distributions across subgroups. There is a dearth of statistical methodology available to researchers that addresses the aforementioned issues. In this dissertation, we evaluate the performance of existing TWAS methods in ancestrally diverse populations and identify their limitations. We then develop new statistical methodology that addresses these limitations. We validate the performance of the novel methods in extensive series of simulations as well as in applications to large cohorts of ancestrally diverse populations from the Trans-Omics for Precision Medicine (TOPMed) program.
