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

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

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


Methods in Statistical Genomics

Methods in Statistical Genomics

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 Some of the material is unpublished and contains commentary and unpublished research; other chapters (Chapters 4 through 7) have been published in other journals.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

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  • 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

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  • 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

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  • Author: Daniel O. Stram
  • Publisher:
  • ISBN: 9781461494447
  • Category :
  • Languages : en
  • Pages : 352


Analysis of Genetic Association Studies

Analysis of Genetic Association Studies

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  • 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.


Phenotypes and Genotypes

Phenotypes and Genotypes

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  • 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.


Statistical Methods for Genome-wide Association Studies and Personalized Medicine

Statistical Methods for Genome-wide Association Studies and Personalized Medicine

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  • Author:
  • Publisher:
  • ISBN:
  • Category :
  • Languages : en
  • Pages : 0

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.


Statistical Methods in Genetic Epidemiology

Statistical Methods in Genetic Epidemiology

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  • Author: Duncan C. Thomas
  • Publisher: Oxford University Press
  • ISBN: 0199748055
  • Category : Medical
  • Languages : en
  • Pages : 458

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.


Handbook of Statistical Genomics

Handbook of Statistical Genomics

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  • 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.