Download or read book Analysis of Genomic Variants Via Gene Networks written by Matan Hofree and published by . This book was released on 2014 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome-wide measurements of genomic state offer unprecedented opportunities for biological discovery, with potential to make dramatic impact on medicine and life. One fundamental challenge is associating complex phenotypes with genetic cause. Here, I will describe efforts to advance solutions to this challenge via analysis of gene networks. Genome-wide association studies are designed link between a phenotype and genomic loci anywhere in the genome; however, applying standard statistics to such data has fallen far short of building accurate predictive models for disease. We use Adaboost, a large-margin classification algorithm, to predict disease status in two cohorts of diabetes and suggest a method for overcoming limitations arising from correlation between genetic variants. We uncover a novel set of 163 disease-associations, missed by `classic' statistics. Classification of cancer remains predominantly organ based and fails to account for considerable heterogeneity of outcomes. Tumor genomes provide a new source of data for uncovering subtypes, but are difficult to compare, as tumors share few mutations in common. We introduce network-based stratification (NBS), a method for integrating somatic genomes with networks encoding biological knowledge. This allows for identification of cancer subtypes by clustering tumors with mutations in similar network regions. We demonstrate NBS in multiple cancer cohorts, identifying subtypes predictive of clinical features and outcomes, and highlighting sub-networks characteristic of each. Current approaches for identifying cancer genes rely on the idea that particular perturbations, occurring in a subset of genes unique to each cancer type, are selected for by conferring a survival advantage to tumor cells. Such genes are expected to be enriched for mutations when examined across a population. Here we show that 30-50% of well-known cancer genes are not significantly elevated in mutation frequency. Despite this lack of enrichment, known cancer genes are enriched for mutations causing changes in amino-acid composition, protein structure properties and conservation. Furthermore, we observe 15-30% of cancer genes have altered mutation rates conditioned on other genes, each individually spanning the range of single-gene mutation frequencies, implicating a large genetic interaction network underlying human cancer. This suggests a substantial number of cancer genes will never be identified by frequency alone.
Download or read book Evolutionary Genomics written by Maria Anisimova and published by Humana Press. This book was released on 2012-03-08 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt: Together with early theoretical work in population genetics, the debate on sources of genetic makeup initiated by proponents of the neutral theory made a solid contribution to the spectacular growth in statistical methodologies for molecular evolution. Evolutionary Genomics: Statistical and Computational Methods is intended to bring together the more recent developments in the statistical methodology and the challenges that followed as a result of rapidly improving sequencing technologies. Presented by top scientists from a variety of disciplines, the collection includes a wide spectrum of articles encompassing theoretical works and hands-on tutorials, as well as many reviews with key biological insight. Volume 2 begins with phylogenomics and continues with in-depth coverage of natural selection, recombination, and genomic innovation. The remaining chapters treat topics of more recent interest, including population genomics, -omics studies, and computational issues related to the handling of large-scale genomic data. Written in the highly successful Methods in Molecular BiologyTM series format, this work provides the kind of advice on methodology and implementation that is crucial for getting ahead in genomic data analyses. Comprehensive and cutting-edge, Evolutionary Genomics: Statistical and Computational Methods is a treasure chest of state-of the-art methods to study genomic and omics data, certain to inspire both young and experienced readers to join the interdisciplinary field of evolutionary genomics.
Download or read book Plant Genetic Resources of Ethiopia written by Jan Engels and published by Cambridge University Press. This book was released on 1991-03-21 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the world centers of crop evolution and origin, Ethiopia has long been recognized as an important area of diversity for several major and various minor crops. Based on an international conference held in Addis Ababa, this book describes how plant genetic diversity in Ethiopia is of vital importance in breeding new varieties of crops with desirable characteristics, such as increased resistance to pests and diseases and greater adaptation to heat and drought. The three main sections in the book consider the Ethiopian center of diversity, germ plasm or genetic material collection and conservation in Ethiopia, and the evaluation and utilization of Ethiopian genetic resources. A broad range of food and feed crops and plants of medicinal and industrial importance are discussed, both at a national and international level. A brief account of conservation strategies and gene bank problems unique to Ethiopia is also given. The importance of Ethiopia's plant genetic resources to world agriculture has been demonstrated on more than one occasion. Plant breeders, geneticists, and botanists throughout the world will, therefore, find this unique book a valuable source of information and an essential reference work.
Download or read book Analysis of Genomic Variants for Investigating the Genetic Etiology of Disease written by Daniel Edmund Newburger and published by . This book was released on 2015 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The study of genomic variation within human populations is critical for elucidating the genetic factors that contribute to disease. Identifying and characterizing the genetic architecture of disease advances clinical care by facilitating the development of novel diagnostic tools, the identification of new therapeutic targets, and the practice of personalized treatment for genetic syndromes. The massive volume of genetic data generated by modern genotyping technologies, combined with the informatics challenges of filtering and interpreting these noisy measurements, represent significant obstacles to genomic research. These technical issues necessitate the development of computationally efficient methodologies that leverage raw genotype data for the comparative genomic analysis of complex phenotypes across human subpopulations. In this dissertation, I describe my contributions towards the biomedical study of genetic syndromes using high-throughput genotyping technologies. First, I discuss methods for studying the genome evolution of pre-malignant cancer lesions during progression to breast cancer. Second, I describe algorithms for performing highly accurate variant validation in genomic studies using next generation sequencing. Finally, I present methods for identifying novel disease susceptibility loci in complex diseases using identity by descent mapping in large case-control cohorts.
Download or read book Bioinformatics Research and Development written by Sepp Hochreiter and published by Springer. This book was released on 2007-05-21 with total page 497 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book constitutes the refereed proceedings of the First International Bioinformatics Research and Development Conference, BIRD 2007, held in Berlin, Germany in March 2007. The 36 revised full papers are organized in topical sections on microarray and systems biology and networks, medical, SNPs, genomics, systems biology, sequence analysis and coding, proteomics and structure, databases, Web and text analysis.
Download or read book Handbook of Statistical Genomics written by David J. Balding and published by John Wiley & Sons. This book was released on 2019-07-09 with total page 1828 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Computational Genomics with R written by Altuna Akalin and published by CRC Press. This book was released on 2020-12-16 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: Computational Genomics with R provides a starting point for beginners in genomic data analysis and also guides more advanced practitioners to sophisticated data analysis techniques in genomics. The book covers topics from R programming, to machine learning and statistics, to the latest genomic data analysis techniques. The text provides accessible information and explanations, always with the genomics context in the background. This also contains practical and well-documented examples in R so readers can analyze their data by simply reusing the code presented. As the field of computational genomics is interdisciplinary, it requires different starting points for people with different backgrounds. For example, a biologist might skip sections on basic genome biology and start with R programming, whereas a computer scientist might want to start with genome biology. After reading: You will have the basics of R and be able to dive right into specialized uses of R for computational genomics such as using Bioconductor packages. You will be familiar with statistics, supervised and unsupervised learning techniques that are important in data modeling, and exploratory analysis of high-dimensional data. You will understand genomic intervals and operations on them that are used for tasks such as aligned read counting and genomic feature annotation. You will know the basics of processing and quality checking high-throughput sequencing data. You will be able to do sequence analysis, such as calculating GC content for parts of a genome or finding transcription factor binding sites. You will know about visualization techniques used in genomics, such as heatmaps, meta-gene plots, and genomic track visualization. You will be familiar with analysis of different high-throughput sequencing data sets, such as RNA-seq, ChIP-seq, and BS-seq. You will know basic techniques for integrating and interpreting multi-omics datasets. Altuna Akalin is a group leader and head of the Bioinformatics and Omics Data Science Platform at the Berlin Institute of Medical Systems Biology, Max Delbrück Center, Berlin. He has been developing computational methods for analyzing and integrating large-scale genomics data sets since 2002. He has published an extensive body of work in this area. The framework for this book grew out of the yearly computational genomics courses he has been organizing and teaching since 2015.
Download or read book Evaluating Human Genetic Diversity written by National Research Council and published by National Academies Press. This book was released on 1998-01-19 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.
Download or read book Systems Genetics written by Klaus Schughart and published by Humana. This book was released on 2016-12-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume focuses on the use of system genetic methods and the use of murine models to study the role of gene variants and environmental factors on human health and disease—what is now often called personalized or precision health care. The protocols in this book will help readers analyze genetic causes of heritable variation across a wide range of systems and traits using rodent models. The chapters in this book are separated into three sections that cover: 1) resources for systems genetics; 2) tools for analysis and integration in systems genetics; and 3) systems genetics use cases. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and tools, step-by-step, readily reproducible protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Systems Genetics: Methods and Protocols is a valuable resource for anyone who is interested in this diverse field.
Download or read book Bacterial Pangenomics written by Alessio Mengoni and published by . This book was released on 2015 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genome Data Analysis written by Ju Han Kim and published by Springer. This book was released on 2019-04-30 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook describes recent advances in genomics and bioinformatics and provides numerous examples of genome data analysis that illustrate its relevance to real world problems and will improve the reader’s bioinformatics skills. Basic data preprocessing with normalization and filtering, primary pattern analysis, and machine learning algorithms using R and Python are demonstrated for gene-expression microarrays, genotyping microarrays, next-generation sequencing data, epigenomic data, and biological network and semantic analyses. In addition, detailed attention is devoted to integrative genomic data analysis, including multivariate data projection, gene-metabolic pathway mapping, automated biomolecular annotation, text mining of factual and literature databases, and integrated management of biomolecular databases. The textbook is primarily intended for life scientists, medical scientists, statisticians, data processing researchers, engineers, and other beginners in bioinformatics who are experiencing difficulty in approaching the field. However, it will also serve as a simple guideline for experts unfamiliar with the new, developing subfield of genomic analysis within bioinformatics.
Download or read book Microbial Evolution written by Howard Ochman and published by . This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bacteria have been the dominant forms of life on Earth for the past 3.5 billion years. They rapidly evolve, constantly changing their genetic architecture through horizontal DNA transfer and other mechanisms. Consequently, it can be difficult to define individual species and determine how they are related. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Biology examines how bacteria and other microbes evolve, focusing on insights from genomics-based studies. Contributors discuss the origins of new microbial populations, the evolutionary and ecological mechanisms that keep species separate once they have diverged, and the challenges of constructing phylogenetic trees that accurately reflect their relationships. They describe the organization of microbial genomes, the various mutations that occur, including the birth of new genes de novo and by duplication, and how natural selection acts on those changes. The role of horizontal gene transfer as a strong driver of microbial evolution is emphasized throughout. The authors also explore the geologic evidence for early microbial evolution and describe the use of microbial evolution experiments to examine phenomena like natural selection. This volume will thus be essential reading for all microbial ecologists, population geneticists, and evolutionary biologists.
Download or read book Agricultural Bioinformatics written by Kavi Kishor P.B. and published by Springer. This book was released on 2014-07-14 with total page 296 pages. Available in PDF, EPUB and Kindle. Book excerpt: A common approach to understanding the functional repertoire of a genome is through functional genomics. With systems biology burgeoning, bioinformatics has grown to a larger extent for plant genomes where several applications in the form of protein-protein interactions (PPI) are used to predict the function of proteins. With plant genes evolutionarily conserved, the science of bioinformatics in agriculture has caught interest with myriad of applications taken from bench side to in silico studies. A multitude of technologies in the form of gene analysis, biochemical pathways and molecular techniques have been exploited to an extent that they consume less time and have been cost-effective to use. As genomes are being sequenced, there is an increased amount of expression data being generated from time to time matching the need to link the expression profiles and phenotypic variation to the underlying genomic variation. This would allow us to identify candidate genes and understand the molecular basis/phenotypic variation of traits. While many bioinformatics methods like expression and whole genome sequence data of organisms in biological databases have been used in plants, we felt a common reference showcasing the reviews for such analysis is wanting. We envisage that this dearth would be facilitated in the form of this Springer book on Agricultural Bioinformatics. We thank all the authors and the publishers Springer, Germany for providing us an opportunity to review the bioinformatics works that the authors have carried in the recent past and hope the readers would find this book attention grabbing.
Download or read book Review of the Department of Energy s Genomics GTL Program written by National Research Council and published by National Academies Press. This book was released on 2006-04-19 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: The U.S. Department of Energy (DOE) promotes scientific and technological innovation to advance the national, economic, and energy security of the United States. Recognizing the potential of microorganisms to offer new energy alternatives and remediate environmental contamination, DOE initiated the Genomes to Life program, now called Genomics: GTL, in 2000. The program aims to develop a predictive understanding of microbial systems that can be used to engineer systems for bioenergy production and environmental remediation, and to understand carbon cycling and sequestration. This report provides an evaluation of the program and its infrastructure plan. Overall, the report finds that GTL's research has resulted in and promises to deliver many more scientific advancements that contribute to the achievement of DOE's goals. However, the DOE's current plan for building four independent facilities for protein production, molecular imaging, proteome analysis, and systems biology sequentially may not be the most cost-effective, efficient, and scientifically optimal way to provide this infrastructure. As an alternative, the report suggests constructing up to four institute-like facilities, each of which integrates the capabilities of all four of the originally planned facility types and focuses on one or two of DOE's mission goals. The alternative infrastructure plan could have an especially high ratio of scientific benefit to cost because the need for technology will be directly tied to the biology goals of the program.
Download or read book Evolution of Translational Omics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-09-13 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
Download or read book Kernel Methods for Pattern Analysis written by John Shawe-Taylor and published by Cambridge University Press. This book was released on 2004-06-28 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher Description
Download or read book The Barley Genome written by Nils Stein and published by Springer. This book was released on 2018-08-18 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents an overview of the state-of-the-art in barley genome analysis, covering all aspects of sequencing the genome and translating this important information into new knowledge in basic and applied crop plant biology and new tools for research and crop improvement. Unlimited access to a high-quality reference sequence is removing one of the major constraints in basic and applied research. This book summarizes the advanced knowledge of the composition of the barley genome, its genes and the much larger non-coding part of the genome, and how this information facilitates studying the specific characteristics of barley. One of the oldest domesticated crops, barley is the small grain cereal species that is best adapted to the highest altitudes and latitudes, and it exhibits the greatest tolerance to most abiotic stresses. With comprehensive access to the genome sequence, barley’s importance as a genetic model in comparative studies on crop species like wheat, rye, oats and even rice is likely to increase.
