Statistical Methods, Computing, and Resources for Genome-Wide Association Studies

Statistical Methods, Computing, and Resources for Genome-Wide Association Studies

PDF Statistical Methods, Computing, and Resources for Genome-Wide Association Studies Download

  • Author: Riyan Cheng
  • Publisher: Frontiers Media SA
  • ISBN: 2889712125
  • Category : Science
  • Languages : en
  • Pages : 148


Methods in Statistical Genomics

Methods in Statistical Genomics

PDF Methods in Statistical Genomics Download

  • Author: Philip Chester Cooley
  • Publisher: RTI Press
  • ISBN: 1934831166
  • Category : Medical
  • Languages : en
  • Pages : 163

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 Some of the material is unpublished and contains commentary and unpublished research; other chapters (Chapters 4 through 7) have been published in other journals.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.


The Fundamentals of Modern Statistical Genetics

The Fundamentals of Modern Statistical Genetics

PDF The Fundamentals of Modern Statistical Genetics Download

  • Author: Nan M. Laird
  • Publisher: Springer Science & Business Media
  • ISBN: 1441973389
  • Category : Medical
  • Languages : en
  • Pages : 226

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.


Applied Statistical Genetics with R

Applied Statistical Genetics with R

PDF Applied Statistical Genetics with R Download

  • Author: Andrea S. Foulkes
  • Publisher: Springer Science & Business Media
  • ISBN: 038789554X
  • Category : Science
  • Languages : en
  • Pages : 264

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.


Design, Analysis, and Interpretation of Genome-Wide Association Scans

Design, Analysis, and Interpretation of Genome-Wide Association Scans

PDF Design, Analysis, and Interpretation of Genome-Wide Association Scans Download

  • Author: Daniel O. Stram
  • Publisher: Springer Science & Business Media
  • ISBN: 1461494435
  • Category : Medical
  • Languages : en
  • Pages : 334

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.


Phenotypes and Genotypes

Phenotypes and Genotypes

PDF Phenotypes and Genotypes Download

  • Author: Florian Frommlet
  • Publisher: Springer
  • ISBN: 1447153103
  • Category : Computers
  • Languages : en
  • Pages : 222

This timely text presents a comprehensive guide to genetic association, a new and rapidly expanding field that aims to elucidate how our genetic code (genotypes) influences the traits we possess (phenotypes). The book provides a detailed review of methods of gene mapping used in association with experimental crosses, as well as genome-wide association studies. Emphasis is placed on model selection procedures for analyzing data from large-scale genome scans based on specifically designed modifications of the Bayesian information criterion. Features: presents a thorough introduction to the theoretical background to studies of genetic association (both genetic and statistical); reviews the latest advances in the field; illustrates the properties of methods for mapping quantitative trait loci using computer simulations and the analysis of real data; discusses open challenges; includes an extensive statistical appendix as a reference for those who are not totally familiar with the fundamentals of statistics.


Analysis of Genetic Association Studies

Analysis of Genetic Association Studies

PDF Analysis of Genetic Association Studies Download

  • Author: Gang Zheng
  • Publisher: Springer Science & Business Media
  • ISBN: 1461422450
  • Category : Medical
  • Languages : en
  • Pages : 414

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.


Handbook of Statistical Genomics

Handbook of Statistical Genomics

PDF Handbook of Statistical Genomics Download

  • Author: David J. Balding
  • Publisher: John Wiley & Sons
  • ISBN: 1119429145
  • Category : Science
  • Languages : en
  • Pages : 1223

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.


Omic Association Studies with R and Bioconductor

Omic Association Studies with R and Bioconductor

PDF Omic Association Studies with R and Bioconductor Download

  • Author: Juan R. González
  • Publisher: CRC Press
  • ISBN: 0429803362
  • Category : Mathematics
  • Languages : en
  • Pages : 348

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


Assessing Gene-Environment Interactions in Genome-Wide Association Studies: Statistical Approaches

Assessing Gene-Environment Interactions in Genome-Wide Association Studies: Statistical Approaches

PDF Assessing Gene-Environment Interactions in Genome-Wide Association Studies: Statistical Approaches Download

  • Author: Philip C. Cooley
  • Publisher: RTI Press
  • ISBN:
  • Category : Science
  • Languages : en
  • Pages : 24

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