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Global Health Informatics: How Information Technology Can Change Our Lives in a Globalized World discusses the critical role of information and communication technologies in health practice, health systems management and research in increasingly interconnected societies. In a global interconnected world the old standalone institutional information systems have proved to be inadequate for patient-centered care provided by multiple providers, for the early detection and response to emerging and re-emerging diseases, and to guide population-oriented public health interventions. The book reviews pertinent aspects and successful current experiences related to standards for health information systems; digital systems as a support for decision making, diagnosis and therapy; professional and client education and training; health systems operation; and intergovernmental collaboration. - Discusses how standalone systems can compromise health care in globalized world - Provides information on how information and communication technologies (ICT) can support diagnose, treatment, and prevention of emerging and re-emerging diseases - Presents case studies about integrated information and how and why to share data can facilitate governance and strategies to improve life conditions
Full four-color book. Some of the editors created the Bioconductor project and Robert Gentleman is one of the two originators of R. All methods are illustrated with publicly available data, and a major section of the book is devoted to fully worked case studies. Code underlying all of the computations that are shown is made available on a companion website, and readers can reproduce every number, figure, and table on their own computers.
Data driven Artificial Intelligence (AI) and Machine Learning (ML) in digital pathology, radiology, and dermatology is very promising. In specific cases, for example, Deep Learning (DL), even exceeding human performance. However, in the context of medicine it is important for a human expert to verify the outcome. Consequently, there is a need for transparency and re-traceability of state-of-the-art solutions to make them usable for ethical responsible medical decision support. Moreover, big data is required for training, covering a wide spectrum of a variety of human diseases in different organ systems. These data sets must meet top-quality and regulatory criteria and must be well annotated for ML at patient-, sample-, and image-level. Here biobanks play a central and future role in providing large collections of high-quality, well-annotated samples and data. The main challenges are finding biobanks containing ‘‘fit-for-purpose’’ samples, providing quality related meta-data, gaining access to standardized medical data and annotations, and mass scanning of whole slides including efficient data management solutions.
Probabilistic models are becoming increasingly important in analysing the huge amount of data being produced by large-scale DNA-sequencing efforts such as the Human Genome Project. For example, hidden Markov models are used for analysing biological sequences, linguistic-grammar-based probabilistic models for identifying RNA secondary structure, and probabilistic evolutionary models for inferring phylogenies of sequences from different organisms. This book gives a unified, up-to-date and self-contained account, with a Bayesian slant, of such methods, and more generally to probabilistic methods of sequence analysis. Written by an interdisciplinary team of authors, it aims to be accessible to molecular biologists, computer scientists, and mathematicians with no formal knowledge of the other fields, and at the same time present the state-of-the-art in this new and highly important field.
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.
This volume provides a comprehensive review of established and novel biomarkers across the continuum of breast cancer. The volume covers topics related to breast cancer risk and prevention, prediction of response to today’s standard therapies, and markers capable of influencing treatment decisions in the near future. Chapter authors combine their wide-ranging expertise to review the current status of the biomarker and to offer their individual perspectives on how biomarkers may be used in future treatments and research. Breast cancer continues to be the most common malignancy diagnosed in women in the Western world. While there are multiple treatment approaches for breast cancer, today more than ever we recognize that each tumor is unique. The challenge ahead is to consider how to best use validated and novel biomarkers to select the most appropriate treatment(s) for individual patients.
Next generation sequencing (NGS) has surpassed the traditional Sanger sequencing method to become the main choice for large-scale, genome-wide sequencing studies with ultra-high-throughput production and a huge reduction in costs. The NGS technologies have had enormous impact on the studies of structural and functional genomics in all the life sciences. In this book, Next Generation Sequencing Advances, Applications and Challenges, the sixteen chapters written by experts cover various aspects of NGS including genomics, transcriptomics and methylomics, the sequencing platforms, and the bioinformatics challenges in processing and analysing huge amounts of sequencing data. Following an overview of the evolution of NGS in the brave new world of omics, the book examines the advances and challenges of NGS applications in basic and applied research on microorganisms, agricultural plants and humans. This book is of value to all who are interested in DNA sequencing and bioinformatics across all fields of the life sciences.
“Diagnostics in Plant Breeding” is systematically organizing cutting-edge research reviews on the development and application of molecular tools for the prediction of plant performance. Given its significance for mankind and the available research resources, medical sciences are leading the area of molecular diagnostics, where DNA-based risk assessments for various diseases and biomarkers to determine their onset become increasingly available. So far, most research in plant genomics has been directed towards understanding the molecular basis of biological processes or phenotypic traits. From a plant breeding perspective, however, the main interest is in predicting optimal genotypes based on molecular information for more time- and cost-efficient breeding schemes. It is anticipated that progress in plant genomics and in particular sequence technology made recently will shift the focus from “explanatory” to “predictive” in crop science. This book assembles chapters on all areas relevant to development and application of predictive molecular tools in plant breeding by leading authorties in the respective areas.
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.