Download or read book Computational and Experimental Protein Variant Interpretation in the Era of Precision Medicine written by Daniele Dell'Orco and published by Frontiers Media SA. This book was released on 2024-01-26 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: One of the key goals in the postgenomic era is the elucidation of the mechanisms underlying the relationship between genotype and phenotype. In particular, understanding how human genetic and somatic variations are associated with diseases is still an open problem and its solution is a crucial issue for exploiting the possibilities offered by the modern sequencing techniques in the framework of precision and personalized medicine. The increasing amount of data generated by the sequencing initiatives calls for accurate and reliable computational approaches to predict the impact of mutations on the phenotype, and possibly for methods to correlate them with diseases. From the experimental point of view, disease-causing variants are supposed to directly affect protein function, protein stability as well as the kinetics and thermodynamics of protein-protein recognition, and robust validation at the molecular scale is necessary. This approach can be of invaluable help in facing new challenges such as the fast development of effective vaccines.
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 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 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 Sequence Evolution Function written by Eugene V. Koonin and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sequence - Evolution - Function is an introduction to the computational approaches that play a critical role in the emerging new branch of biology known as functional genomics. The book provides the reader with an understanding of the principles and approaches of functional genomics and of the potential and limitations of computational and experimental approaches to genome analysis. Sequence - Evolution - Function should help bridge the "digital divide" between biologists and computer scientists, allowing biologists to better grasp the peculiarities of the emerging field of Genome Biology and to learn how to benefit from the enormous amount of sequence data available in the public databases. The book is non-technical with respect to the computer methods for genome analysis and discusses these methods from the user's viewpoint, without addressing mathematical and algorithmic details. Prior practical familiarity with the basic methods for sequence analysis is a major advantage, but a reader without such experience will be able to use the book as an introduction to these methods. This book is perfect for introductory level courses in computational methods for comparative and functional genomics.
Download or read book Precision Medicine and Artificial Intelligence written by Michael Mahler and published by Academic Press. This book was released on 2021-03-12 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision Medicine and Artificial Intelligence: The Perfect Fit for Autoimmunity covers background on artificial intelligence (AI), its link to precision medicine (PM), and examples of AI in healthcare, especially autoimmunity. The book highlights future perspectives and potential directions as AI has gained significant attention during the past decade. Autoimmune diseases are complex and heterogeneous conditions, but exciting new developments and implementation tactics surrounding automated systems have enabled the generation of large datasets, making autoimmunity an ideal target for AI and precision medicine. More and more diagnostic products utilize AI, which is also starting to be supported by regulatory agencies such as the Food and Drug Administration (FDA). Knowledge generation by leveraging large datasets including demographic, environmental, clinical and biomarker data has the potential to not only impact the diagnosis of patients, but also disease prediction, prognosis and treatment options. - Allows the readers to gain an overview on precision medicine for autoimmune diseases leveraging AI solutions - Provides background, milestone and examples of precision medicine - Outlines the paradigm shift towards precision medicine driven by value-based systems - Discusses future applications of precision medicine research using AI - Other aspects covered in the book include regulatory insights, data analytics and visualization, types of biomarkers as well as the role of the patient in precision medicine
Download or read book Translational Biomedical Informatics written by Bairong Shen and published by Springer. This book was released on 2016-10-31 with total page 331 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book introduces readers to essential methods and applications in translational biomedical informatics, which include biomedical big data, cloud computing and algorithms for understanding omics data, imaging data, electronic health records and public health data. The storage, retrieval, mining and knowledge discovery of biomedical big data will be among the key challenges for future translational research. The paradigm for precision medicine and healthcare needs to integratively analyze not only the data at the same level – e.g. different omics data at the molecular level – but also data from different levels – the molecular, cellular, tissue, clinical and public health level. This book discusses the following major aspects: the structure of cross-level data; clinical patient information and its shareability; and standardization and privacy. It offers a valuable guide for all biologists, biomedical informaticians and clinicians with an interest in Precision Medicine Informatics.
Download or read book Encyclopedia of Bioinformatics and Computational Biology written by and published by Elsevier. This book was released on 2018-08-21 with total page 3421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Encyclopedia of Bioinformatics and Computational Biology: ABC of Bioinformatics, Three Volume Set combines elements of computer science, information technology, mathematics, statistics and biotechnology, providing the methodology and in silico solutions to mine biological data and processes. The book covers Theory, Topics and Applications, with a special focus on Integrative –omics and Systems Biology. The theoretical, methodological underpinnings of BCB, including phylogeny are covered, as are more current areas of focus, such as translational bioinformatics, cheminformatics, and environmental informatics. Finally, Applications provide guidance for commonly asked questions. This major reference work spans basic and cutting-edge methodologies authored by leaders in the field, providing an invaluable resource for students, scientists, professionals in research institutes, and a broad swath of researchers in biotechnology and the biomedical and pharmaceutical industries. Brings together information from computer science, information technology, mathematics, statistics and biotechnology Written and reviewed by leading experts in the field, providing a unique and authoritative resource Focuses on the main theoretical and methodological concepts before expanding on specific topics and applications Includes interactive images, multimedia tools and crosslinking to further resources and databases
Download or read book Translational Bioinformatics in Healthcare and Medicine written by and published by Academic Press. This book was released on 2021-05-13 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: Translational Bioinformatics in Healthcare and Medicine offers an overview of main principles of bioinformatics, biological databases, clinical informatics, health informatics, viroinformatics and real-case applications of translational bioinformatics in healthcare. Written by experts from both technology and clinical sides, the content brings together essential knowledge to make the best of recent advancements of the field. The book discusses topics such as next generation sequence analysis, genomics in clinical care, IoT applications, blockchain technology, patient centered interoperability of EHR, health data mining, and translational bioinformatics methods for drug discovery and drug repurposing. In addition, it discusses the role of bioinformatics in cancer research and viroinformatics approaches to counter viral diseases through informatics. This is a valuable resource for bioinformaticians, clinicians, healthcare professionals, graduate students and several members of biomedical field who are interested in learning more about how bioinformatics can impact in their research and practice. - Covers recent advancements in translational bioinformatics and its healthcare applications - Discusses integrative and multidisciplinary approaches to U-healthcare systems development and management - Bridges the gap among various knowledge domains in the field, integrating both technological and clinical knowledge into practical content
Download or read book Personalized Medicine in Oncology written by Ari VanderWalde and published by . This book was released on 2022 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowhere is the explosion in comprehensive genomic testing more evident than in oncology. Multiple consensus guidelines now recommend molecular testing as the standard of care for most metastatic tumors. To aid in the advancement of this rapidly changing field, we intend this Special Issue of JPM to focus on technical developments in the genomic profiling of cancer, detail promising somatic alterations that either are, or have a high likelihood of being, relevant in the near future, and to address issues related to the pricing and value of these tests.The last few years have seen the cost of molecular testing decrease by orders of magnitude. In 2018, we saw the first “site-agnostic” drug approvals in cancer (for microsatellite unstable cancer (PD-1 inhibitors) and NTRK-fusions (TRK inhibitors)). Research on targetable mutations, determination of genetic “signatures” that can use multiple individual genes/pathways, development of targeted therapy, and insight into the value of new technology remains at the cutting edge of research in this field. We are soliciting papers that present new technologies to assess predictive biomarkers in cancer, original research (pre-clinical or clinical) that demonstrates promise for particular targeted therapies in cancer, and articles that explore the clinical and financial impacts of this paradigmatic shift in cancer diagnostics and treatment.
Download or read book Data Mining for Genomics and Proteomics written by Darius M. Dziuda and published by John Wiley & Sons. This book was released on 2010-07-16 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: Data Mining for Genomics and Proteomics uses pragmatic examples and a complete case study to demonstrate step-by-step how biomedical studies can be used to maximize the chance of extracting new and useful biomedical knowledge from data. It is an excellent resource for students and professionals involved with gene or protein expression data in a variety of settings.
Download or read book Statistical Genomics written by Ewy Mathé and published by Humana. This book was released on 2016-03-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume expands on statistical analysis of genomic data by discussing cross-cutting groundwork material, public data repositories, common applications, and representative tools for operating on genomic data. Statistical Genomics: Methods and Protocols is divided into four sections. The first section discusses overview material and resources that can be applied across topics mentioned throughout the book. The second section covers prominent public repositories for genomic data. The third section presents several different biological applications of statistical genomics, and the fourth section highlights software tools that can be used to facilitate ad-hoc analysis and data integration. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, step-by-step, readily reproducible analysis protocols, and tips on troubleshooting and avoiding known pitfalls. Through and practical, Statistical Genomics: Methods and Protocols, explores a range of both applications and tools and is ideal for anyone interested in the statistical analysis of genomic data.
Download or read book Free Energy Calculations written by Christophe Chipot and published by Springer Science & Business Media. This book was released on 2007-01-08 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt: Free energy constitutes the most important thermodynamic quantity to understand how chemical species recognize each other, associate or react. Examples of problems in which knowledge of the underlying free energy behaviour is required, include conformational equilibria and molecular association, partitioning between immiscible liquids, receptor-drug interaction, protein-protein and protein-DNA association, and protein stability. This volume sets out to present a coherent and comprehensive account of the concepts that underlie different approaches devised for the determination of free energies. The reader will gain the necessary insight into the theoretical and computational foundations of the subject and will be presented with relevant applications from molecular-level modelling and simulations of chemical and biological systems. Both formally accurate and approximate methods are covered using both classical and quantum mechanical descriptions. A central theme of the book is that the wide variety of free energy calculation techniques available today can be understood as different implementations of a few basic principles. The book is aimed at a broad readership of graduate students and researchers having a background in chemistry, physics, engineering and physical biology.
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Download or read book New Horizons in Osteoporosis Management written by Yasser El Miedany and published by Springer Nature. This book was released on 2022-01-03 with total page 903 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a review of the most recent data on osteoporosis and bone health, presenting a vision of diagnosis and management for the year 2021 and beyond. It covers all pertinent aspects of bone health including diagnosis, fracture prevention, optimized practice, impaired orthostasis, and falls. The book examines recent developments in therapeutics, including goal-directed therapy, individualizing therapy, sequential and combined therapies, pharmaceuticals, and anabolic vs. antiresorptive therapy. In addition, it provides an in-depth overview of osteoporosis and bone health in complex patients, covering Duchene dystrophy, renal failure, periodontal diseases, and steroid-induced osteoporosis as well as considerations for pediatric populations and men. New Horizons in Osteoporosis Management is an essential resource for physicians and related professionals, residents, fellows, graduate students and nurses in rheumatology, endocrinology, radiology, pediatrics, primary care, and internal medicine.
Download or read book Colorectal Cancer Liver Metastases written by Mauro Monteiro Correia and published by Springer Nature. This book was released on 2019-12-28 with total page 597 pages. Available in PDF, EPUB and Kindle. Book excerpt: Colorectal cancer is the third most commonly diagnosed condition in oncology, affecting around 1.23 million individuals per year, according to recent statistics. Of these patients, about 50% will develop liver metastases and approximately 20% will present a stage IV disease at diagnosis. These statistics make colorectal liver metastases (CLM) an issue of major importance in current oncology. The area of CLM is subject to great and continuous advances, as its pathophysiologic mechanisms are better understood and more therapeutic and surgical options are developed. Consequently, all professionals involved with the diagnosis, treatment and follow up of CLM should be kept up to date with the latest advances on the field, to provide high standard medical care to their patients. This book is designed to present the state-of-the-art in CLM management and, in doing so, to review the current evidence on CLM, discussing all important topics in the field. Coverage is broad and comprehensive, encompassing introductory topics (history, definitions, epidemiology, etc.), basic science subjects (molecular biology, genetics, dissemination process, etc.) and practical clinical topics (tumor behavior, diagnosis, drug therapy, radiation therapy, surgery, ablation, multidisciplinary teams, etc.). Although comprehensive on the coverage and selection of topics, each chapter is concise and objective, dissecting topics in a practical and direct format. Evidences and recommendations are included. Chapters display a brief introduction of the common knowledge, go straight to the detailed revision of the most recent years of the literature, and end with practical closing observations. This book is a tool for professionals (general and cancer surgeons, HPB surgeons, clinical oncologists, gastroenterologists and medical residents) and interns who search for a qualified and reader friendly revision on topics concerning Colorectal Cancer Liver Metastases.
Download or read book Sex Specific Analysis of Cardiovascular Function written by Peter L. M. Kerkhof and published by Springer. This book was released on 2018-07-26 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book gathers together contributions from internationally renowned authors in the field of cardiovascular systems and provides crucial insight into the importance of sex- and gender-concepts during the analysis of patient data. This innovative title is the first to offer the elements necessary to consider sex-related properties in both clinical and basic studies regarding the heart and circulation on multiscale levels (i.e. molecular, cellular, electrophysiologically, neuroendocrine, immunoregulatory, organ, allometric, and modeling). Observed differences at (ultra)cellular and organ level are quantified, with focus on clinical relevance and implications for diagnosis and patient management. Since the cardiovascular system is of vital importance for all tissues, Sex-Specific Analysis of Cardiovascular Function is an essential source of information for clinicians, biologists, and biomedical investigators. The wide spectrum of differences described in this book will also act as an eye-opener and serve as a handbook for students, teachers, scientists and practitioners.
