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.
Genomics, the mapping of the entire genetic complement of an organism, is the new frontier in biology. This handbook on the statistical issues of genomics covers current methods and the tried-and-true classical approaches.
Statistical genomics is a rapidly developing field, with more and more people involved in this area. However, a lack of synthetic reference books and textbooks in statistical genomics has become a major hurdle on the development of the field. Although many books have been published recently in bioinformatics, most of them emphasize DNA sequence analysis under a deterministic approach. Principles of Statistical Genomics synthesizes the state-of-the-art statistical methodologies (stochastic approaches) applied to genome study. It facilitates understanding of the statistical models and methods behind the major bioinformatics software packages, which will help researchers choose the optimal algorithm to analyze their data and better interpret the results of their analyses. Understanding existing statistical models and algorithms assists researchers to develop improved statistical methods to extract maximum information from their data. Resourceful and easy to use, Principles of Statistical Genomics is a comprehensive reference for researchers and graduate students studying statistical genomics.
Continues to provide unparalleled and comprehensive coverage of statistical genomics from both a practical and theoretical view Utilizes a new and more modern approach to genomics, with emphasis on bioinformatics and mathematical models Features several new chapters covering topics in sequence-based analysis, biochip data analysis, and generalized bioinformatics Includes SAS codes to assist with more difficult problems Serves molecular biologists, geneticists, statisticians, and computer programmers This second edition of a bestseller, Statistical Genomics and Bioinformatics, Second Edition presents unique and complete coverage of broad topics in statistical genomics. It features several new sections and chapters discussing areas such as sequence-based analysis, biochip data analysis, and generalized bioinformatics. The author also provides updated lists of statistical and linkage analysis software and their Web links, as well as SAS codes to help with difficult problems. Other chapters are revised or consolidated to present updated information. Statistical Genomics and Bioinformatics continues to serve molecular biologists, geneticists, biostatisticians, students, and computer programmers.
The principal goal of this book is to introduce a series of high-dimensional statistical methods that have been developed to map and estimate the genetic architecture of complex traits, with a hope that statistical mapping approaches can be immediately useful to proactical genetic and genomic research in agriculture, evolutionary biology and health sciences.
In the field of molecular evolution, inferences about past evolutionary events are made using molecular data from currently living species. With the availability of genomic data from multiple related species, molecular evolution has become one of the most active and fastest growing fields of study in genomics and bioinformatics. Most studies in molecular evolution rely heavily on statistical procedures based on stochastic process modelling and advanced computational methods including high-dimensional numerical optimization and Markov Chain Monte Carlo. This book provides an overview of the statistical theory and methods used in studies of molecular evolution. It includes an introductory section suitable for readers that are new to the field, a section discussing practical methods for data analysis, and more specialized sections discussing specific models and addressing statistical issues relating to estimation and model choice. The chapters are written by the leaders of field and they will take the reader from basic introductory material to the state-of-the-art statistical methods. This book is suitable for statisticians seeking to learn more about applications in molecular evolution and molecular evolutionary biologists with an interest in learning more about the theory behind the statistical methods applied in the field. The chapters of the book assume no advanced mathematical skills beyond basic calculus, although familiarity with basic probability theory will help the reader. Most relevant statistical concepts are introduced in the book in the context of their application in molecular evolution, and the book should be accessible for most biology graduate students with an interest in quantitative methods and theory. Rasmus Nielsen received his Ph.D. form the University of California at Berkeley in 1998 and after a postdoc at Harvard University, he assumed a faculty position in Statistical Genomics at Cornell University. He is currently an Ole Rømer Fellow at the University of Copenhagen and holds a Sloan Research Fellowship. His is an associate editor of the Journal of Molecular Evolution and has published more than fifty original papers in peer-reviewed journals on the topic of this book. From the reviews: "...Overall this is a very useful book in an area of increasing importance." Journal of the Royal Statistical Society "I find Statistical Methods in Molecular Evolution very interesting and useful. It delves into problems that were considered very difficult just several years ago...the book is likely to stimulate the interest of statisticians that are unaware of this exciting field of applications. It is my hope that it will also help the 'wet lab' molecular evolutionist to better understand mathematical and statistical methods." Marek Kimmel for the Journal of the American Statistical Association, September 2006 "Who should read this book? We suggest that anyone who deals with molecular data (who does not?) and anyone who asks evolutionary questions (who should not?) ought to consult the relevant chapters in this book." Dan Graur and Dror Berel for Biometrics, September 2006 "Coalescence theory facilitates the merger of population genetics theory with phylogenetic approaches, but still, there are mostly two camps: phylogeneticists and population geneticists. Only a few people are moving freely between them. Rasmus Nielsen is certainly one of these researchers, and his work so far has merged many population genetic and phylogenetic aspects of biological research under the umbrella of molecular evolution. Although Nielsen did not contribute a chapter to his book, his work permeates all its chapters. This book gives an overview of his interests and current achievements in molecular evolution. In short, this book should be on your bookshelf." Peter Beerli for Evolution, 60(2), 2006
The second edition of this book adds eight new contributors to reflect a modern cutting edge approach to genomics. It contains the newest research results on genomic analysis and modeling using state-of-the-art methods from engineering, statistics, and genomics. These tools and models are then applied to real biological and clinical problems. The book’s original seventeen chapters are also updated to provide new initiatives and directions.
Focusing on the roles of different segments of DNA, Statistics in Human Genetics and Molecular Biology provides a basic understanding of problems arising in the analysis of genetics and genomics. It presents statistical applications in genetic mapping, DNA/protein sequence alignment, and analyses of gene expression data from microarray experiments. The text introduces a diverse set of problems and a number of approaches that have been used to address these problems. It discusses basic molecular biology and likelihood-based statistics, along with physical mapping, markers, linkage analysis, parametric and nonparametric linkage, sequence alignment, and feature recognition. The text illustrates the use of methods that are widespread among researchers who analyze genomic data, such as hidden Markov models and the extreme value distribution. It also covers differential gene expression detection as well as classification and cluster analysis using gene expression data sets. Ideal for graduate students in statistics, biostatistics, computer science, and related fields in applied mathematics, this text presents various approaches to help students solve problems at the interface of these areas.
"Applied Computational Genomics" focuses on an in-depth review of statistical development and application in the area of human genomics including candidate gene mapping, linkage analysis, population-based, genome-wide association, exon sequencing and whole genome sequencing analysis. The authors are extremely experienced in the area of statistical genomics and will give a detailed introduction of the evolution in the field and critical evaluations of the advantages and disadvantages of the statistical models proposed. They will also share their views on a future shift toward translational biology. The book will be of value to human geneticists, medical doctors, health educators, policy makers, and graduate students majoring in biology, biostatistics, and bioinformatics. Dr. Yin Yao Shugart is investigator in the Intramural Research Program at the National Institute of Mental Health, Bethesda, Maryland USA.
Recent advances in genomic studies have stimulated synergetic research and development in many cross-disciplinary areas. Processing the vast genomic data, especially the recent large-scale microarray gene expression data, to reveal the complex biological functionality, represents enormous challenges to signal processing and statistics. This perspective naturally leads to a new field, genomic signal processing (GSP), which studies the processing of genomic signals by integrating the theory of signal processing and statistics. Written by an international, interdisciplinary team of authors, this invaluable edited volume is accessible to students just entering this emergent field, and to researchers, both in academia and in industry, in the fields of molecular biology, engineering, statistics, and signal processing. The book provides tutorial-level overviews and addresses the specific needs of genomic signal processing students and researchers as a reference book. The book aims to address current genomic challenges by exploiting potential synergies between genomics, signal processing, and statistics, with special emphasis on signal processing and statistical tools for structural and functional understanding of genomic data. The first part of this book provides a brief history of genomic research and a background introduction from both biological and signal-processing/statistical perspectives, so that readers can easily follow the material presented in the rest of the book. In what follows, overviews of state-of-the-art techniques are provided. We start with a chapter on sequence analysis, and follow with chapters on feature selection, classification, and clustering of microarray data. We then discuss the modeling, analysis, and simulation of biological regulatory networks, especially gene regulatory networks based on Boolean and Bayesian approaches. Visualization and compression of gene data, and supercomputer implementation of genomic signal processing systems are also treated. Finally, we discuss systems biology and medical applications of genomic research as well as the future trends in genomic signal processing and statistics research.
“Cereal Genomics” published in 2004 served the purpose of collecting all information on cereal genomics at one place and was well received by the cereal workers through-out the world. The last eight years have witnessed significant advancement in the field of cereal genomics. For instance, high-density genetic maps, physical maps, QTL maps and even draft genome sequence have become available for several cereal species. Furthermore, the next generation sequencing (NGS) technologies have revolutionized genomics research, so that it is possible now to sequence genomes of hundreds or thousands of accessions of an individual cereal crop. Significant amounts of data generated using these NGS technologies created a demand for computational tools to analyse this massive data. In view of these developments, the Editors realised that there was a need to have an updated volume on the present status and future prospects of cereal genomics. These developments related to technology and the tools have been documented in this volume, thus supplementing our earlier edited volume “Cereal Genomics”. “Cereal Genomics II” discusses advances in cereal genomics research made during the last eight years, and presents state-of-art cereal genomics and its utilization involving both basic research such as comparative genomics and functional genomics, and applied research like QTL mapping and molecular breeding.
Nowadays bioinformaticians and geneticists are faced with myriad high-throughput data usually presenting the characteristics of uncertainty, high dimensionality and large complexity. These data will only allow insights into this wealth of so-called 'omics' data if represented by flexible and scalable models, prior to any further analysis. At the interface between statistics and machine learning, probabilistic graphical models (PGMs) represent a powerful formalism to discover complex networks of relations. These models are also amenable to incorporating a priori biological information. Network reconstruction from gene expression data represents perhaps the most emblematic area of research where PGMs have been successfully applied. However these models have also created renewed interest in genetics in the broad sense, in particular regarding association genetics, causality discovery, prediction of outcomes, detection of copy number variations, and epigenetics. This book provides an overview of the applications of PGMs to genetics, genomics and postgenomics to meet this increased interest. A salient feature of bioinformatics, interdisciplinarity, reaches its limit when an intricate cooperation between domain specialists is requested. Currently, few people are specialists in the design of advanced methods using probabilistic graphical models for postgenomics or genetics. This book deciphers such models so that their perceived difficulty no longer hinders their use and focuses on fifteen illustrations showing the mechanisms behind the models. Probabilistic Graphical Models for Genetics, Genomics and Postgenomics covers six main themes: (1) Gene network inference (2) Causality discovery (3) Association genetics (4) Epigenetics (5) Detection of copy number variations (6) Prediction of outcomes from high-dimensional genomic data. Written by leading international experts, this is a collection of the most advanced work at the crossroads of probabilistic graphical models and genetics, genomics, and postgenomics. The self-contained chapters provide an enlightened account of the pros and cons of applying these powerful techniques.
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.
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Numerous fascinating breakthroughs in biotechnology have generated large volumes and diverse types of high throughput data that demand the development of efficient and appropriate tools in computational statistics integrated with biological knowledge and computational algorithms. This volume collects contributed chapters from leading researchers to survey the many active research topics and promote the visibility of this research area. This volume is intended to provide an introductory and reference book for students and researchers who are interested in the recent developments of computational statistics in computational biology.
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling