Genomics

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.

Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

A unique exploration of the principles and methods underlying the Human Genome Project and modern molecular genetics and biotechnology-from two top researchers In Genomics, Charles R. Cantor, former director of the Human Genome Project, and Cassandra L. Smith give the first integral overview of the strategies and technologies behind the Human Genome Project and the field of molecular genetics and biotechnology. Written with a range of readers in mind-from chemists and biologists to computer scientists and engineers-the book begins with a review of the basic properties of DNA and the chromosomes that package it in cells. The authors describe the three main techniques used in DNA analysis-hybridization, polymerase chain reaction, and electrophoresis-and present a complete exploration of DNA mapping in its many different forms. By explaining both the theoretical principles and practical foundations of modern molecular genetics to a wide audience, the book brings the scientific community closer to the ultimate goal of understanding the biological function of DNA. Genomics features: * Topical organization within chapters for easy reference * A discussion of the developing methods of sequencing, such as sequencing by hybridization (SBH) in which data is read through words instead of letters * Detailed explanations and critical evaluations of the many different types of DNA maps that can be generated-including cytogenic and restriction maps as well as interspecies cell hybrids * Informed predictions for the future of DNA sequencing

Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications is the first book to address the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011. The work addresses fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system. Of particular interest to healthcare practitioners, bioethicists, and health economists, and of tangential interest to the gamut of applied social scientists investigating the societal impact of new medical paradigms, the work describes a myriad of issues around consent, confidentiality, rights, patenting, regulation, and legality in the new era of genomic medicine. Addresses the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011 Presents the core fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system Describes a myriad of issues around consent, including confidentiality, rights, patenting, regulation, and more

Population genomics has revolutionized various disciplines of biology including population, evolutionary, ecological and conservation genetics, plant and animal breeding, human health, medicine and pharmacology by allowing to address novel and long-standing questions with unprecedented power and accuracy. It employs large-scale or genome-wide genetic information and bioinformatics to address various fundamental and applied aspects in biology and related disciplines, and provides a comprehensive genome-wide perspective and new insights that were not possible before. These advances have become possible due to the development of new and low-cost sequencing and genotyping technologies and novel statistical approaches and software, bioinformatics tools, and models. Population genomics is tremendously advancing our understanding the roles of evolutionary processes, such as mutation, genetic drift, gene flow, and natural selection, in shaping up genetic variation at individual loci and across the genome and populations; improving the assessment of population genetic parameters or processes such as adaptive evolution, effective population size, gene flow, admixture, inbreeding and outbreeding depression, demography, and biogeography; resolving evolutionary histories and phylogenetic relationships of extant, ancient and extinct species; understanding the genomic basis of fitness, adaptation, speciation, complex ecological and economically important traits, and disease and insect resistance; facilitating forensics, genetic medicine and pharmacology; delineating conservation genetic units; and understanding the genetic effects of resource management practices, and assisting conservation and sustainable management of genetic resources. This Population Genomics book discusses the concepts, approaches, applications and promises of population genomics in addressing most of the above fundamental and applied crucial aspects in a variety of organisms from microorganisms to humans. The book provides insights into a range of emerging population genomics topics including population epigenomics, landscape genomics, seascape genomics, paleogenomics, ecological and evolutionary genomics, biogeography, demography, speciation, admixture, colonization and invasion, genomic selection, and plant and animal domestication. This book fills a vacuum in the field and is expected to become a primary reference in Population Genomics world-wide.

Bringing together the latest methodological and scientific progress in the various research areas in the field of Environmental Genomics, this book discusses the characterization of the structure and dynamics of life, the study of the evolution and adaptation of genes and genomes, the analysis of degraded and/or old DNA, and the functional and genomic ecology of populations and communities. It also considers access to the production and sharing of NGS data and the quality of this data. As the product of the collective discussion of the active French scientific community, the book presents not only the latest technologies in the development of new sequencing methods, but also the resulting issues, challenges and prospects, in order to identify those aspects with the greatest potential for modeling and exploring the function of ecosystems. Includes recent updates from the field of environmental genomics Provides details of advances of methods and perspectives of their use Contains a multidisciplinary overview of the environmental sciences including taxonomy, ecology, evolution, and diversity Focuses on the impact of recent technology advances in high-throughput sequencing

Researchers in the field of ecological genomics aim to determine how a genome or a population of genomes interacts with its environment across ecological and evolutionary timescales. Ecological genomics is trans-disciplinary by nature. Ecologists have turned to genomics to be able to elucidate the mechanistic bases of the biodiversity their research tries to understand. Genomicists have turned to ecology in order to better explain the functional cellular and molecular variation they observed in their model organisms. We provide an advanced-level book that covers this recent research and proposes future development for this field. A synthesis of the field of ecological genomics emerges from this volume. Ecological Genomics covers a wide array of organisms (microbes, plants and animals) in order to be able to identify central concepts that motivate and derive from recent investigations in different branches of the tree of life. Ecological Genomics covers 3 fields of research that have most benefited from the recent technological and conceptual developments in the field of ecological genomics: the study of life-history evolution and its impact of genome architectures; the study of the genomic bases of phenotypic plasticity and the study of the genomic bases of adaptation and speciation.