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This Research Topic is part of a series with, "Bioinformatics Analysis of Omics Data for Biomarker Identification in Clinical Research - Volume I" (https://www.frontiersin.org/research-topics/13816/bioinformatics-analysis-of-omics-data-for-biomarker-identification-in-clinical-research) The advances and the decreasing cost of omics data enable profiling of disease molecular features at different levels, including bulk tissues, animal models, and single cells. Large volumes of omics data enhance the ability to search for information for preclinical study and provide the opportunity to leverage them to understand disease mechanisms, identify molecular targets for therapy, and detect biomarkers of treatment response. Identification of stable, predictive, and interpretable biomarkers is a significant step towards personalized medicine and therapy. Omics data from genomics, transcriptomics, proteomics, epigenomics, metagenomics, and metabolomics help to determine biomarkers for prognostic and diagnostic applications. Preprocessing of omics data is of vital importance as it aims to eliminate systematic experimental bias and technical variation while preserving biological variation. Dozens of normalization methods for correcting experimental variation and bias in omics data have been developed during the last two decades, while only a few consider the skewness between different sample states, such as the extensive over-repression of genes in cancers. The choice of normalization methods determines the fate of identified biomarkers or molecular signatures. From these considerations, the development of appropriate normalization methods or preprocessing strategies may promote biomarker identification and facilitate clinical decision-making.
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 book is designed to introduce biologists, clinicians and computational researchers to fundamental data analysis principles, techniques and tools for supporting the discovery of biomarkers and the implementation of diagnostic/prognostic systems. The focus of the book is on how fundamental statistical and data mining approaches can support biomarker discovery and evaluation, emphasising applications based on different types of "omic" data. The book also discusses design factors, requirements and techniques for disease screening, diagnostic and prognostic applications. Readers are provided with the knowledge needed to assess the requirements, computational approaches and outputs in disease biomarker research. Commentaries from guest experts are also included, containing detailed discussions of methodologies and applications based on specific types of "omic" data, as well as their integration. Covers the main range of data sources currently used for biomarker discovery Covers the main range of data sources currently used for biomarker discovery Puts emphasis on concepts, design principles and methodologies that can be extended or tailored to more specific applications Offers principles and methods for assessing the bioinformatic/biostatistic limitations, strengths and challenges in biomarker discovery studies Discusses systems biology approaches and applications Includes expert chapter commentaries to further discuss relevance of techniques, summarize biological/clinical implications and provide alternative interpretations
The book introduces the bioinformatics tools, databases and strategies for the translational research, focuses on the biomarker discovery based on integrative data analysis and systems biological network reconstruction. With the coming of personal genomics era, the biomedical data will be accumulated fast and then it will become reality for the personalized and accurate diagnosis, prognosis and treatment of complex diseases. The book covers both state of the art of bioinformatics methodologies and the examples for the identification of simple or network biomarkers. In addition, bioinformatics software tools and scripts are provided to the practical application in the study of complex diseases. The present state, the future challenges and perspectives were discussed. The book is written for biologists, biomedical informatics scientists and clinicians, etc. Dr. Bairong Shen is Professor and Director of Center for Systems Biology, Soochow University; he is also Director of Taicang Center for Translational Bioinformatics.
Presenting an area of research that intersects with and integrates diverse disciplines, including molecular biology, applied informatics, and statistics, among others, Bioinformatics for Omics Data: Methods and Protocols collects contributions from expert researchers in order to provide practical guidelines to this complex study. Divided into three convenient sections, this detailed volume covers central analysis strategies, standardization and data-management guidelines, and fundamental statistics for analyzing Omics profiles, followed by a section on bioinformatics approaches for specific Omics tracks, spanning genome, transcriptome, proteome, and metabolome levels, as well as an assortment of examples of integrated Omics bioinformatics applications, complemented by case studies on biomarker and target identification in the context of human disease. Written in the highly successful Methods in Molecular BiologyTM series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and accessible, Bioinformatics for Omics Data: Methods and Protocols serves as an ideal guide to scientists of all backgrounds and aims to convey the appropriate sense of fascination associated with this research field.
view, showing that multiple molecular pathways must be affected for cancer to develop, but with different specific proteins in each pathway mutated or differentially expressed in a given tumor (The Cancer Genome Atlas Research Network 2008; Parsons et al. 2008). Different studies demonstrated that while widespread mutations exist in cancer, not all mutations drive cancer development (Lin et al. 2007). This suggests a need to target only a deleterious subset of aberrant proteins, since any tre- ment must aim to improve health to justify its potential side effects. Treatment for cancer must become highly individualized, focusing on the specific aberrant driver proteins in an individual. This drives a need for informatics in cancer far beyond the need in other diseases. For instance, routine treatment with statins has become widespread for minimizing heart disease, with most patients responding to standard doses (Wilt et al. 2004). In contrast, standard treatment for cancer must become tailored to the molecular phenotype of an individual tumor, with each patient receiving a different combination of therapeutics aimed at the specific aberrant proteins driving the cancer. Tracking the aberrations that drive cancers, identifying biomarkers unique to each individual for molecular-level di- nosis and treatment response, monitoring adverse events and complex dosing schedules, and providing annotated molecular data for ongoing research to improve treatments comprise a major biomedical informatics need.
Omics is an emerging and exciting area in the field of science and medicine. Numerous promising developments have been elucidated using omics (including genomics, transcriptomics, epigenomics, proteomics, metabolomics, interactomics, cytomics and bioinformatics) in cancer research. The development of high-throughput technologies that permit the solution of deciphering cancer from higher dimensionality will provide a knowledge base which changes the face of cancer understanding and therapeutics. This is the first book to provide such a comprehensive coverage of a rapidly evolving area written by leading experts in the field of omics. It complies and details cutting-edge cancer research that covers the broad advances in the field and its application from cancer-associated gene discovery to drug target validation. It also highlights the potential of using integration approach for cancer research. This unique and timely book provides a thorough overview of developing omics, which will appeal to anyone involved in cancer research. It will be a useful reference book for graduate students of different subjects (medicine, biology, engineering, etc) and senior scientists interested in the fascinating area of advanced technologies in cancer research. Readership: This is a precious book for all types of readers – cancer researchers, oncologists, pathologists, biologists, clinical chemists, pharmacologists, pharmaceutical specialists, biostatisticians, and bioinformaticists who want to expand their knowledge in cancer research.
Integrated bioinformatics solutions have become increasingly valuable in past years, as technological advances have allowed researchers to consider the potential of omics for clinical diagnosis, prognosis, and therapeutic purposes, and as the costs of such techniques have begun to lessen. In Bioinformatics Methods in Clinical Research, experts examine the latest developments impacting clinical omics, and describe in great detail the algorithms that are currently used in publicly available software tools. Chapters discuss statistics, algorithms, automated methods of data retrieval, and experimental consideration in genomics, transcriptomics, proteomics, and metabolomics. Composed in the highly successful Methods in Molecular BiologyTM series format, each chapter contains a brief introduction, provides practical examples illustrating methods, results, and conclusions from data mining strategies wherever possible, and includes a Notes section which shares tips on troubleshooting and avoiding known pitfalls. Informative and ground-breaking, Bioinformatics Methods in Clinical Research establishes a much-needed bridge between theory and practice, making it an indispensable resource for bioinformatics researchers.
Many hope that the promise that “omics” science holds for medicine will be realized through the development of better biomarkers for patient management. However, the development of omic technologies magnifies the issues and challenges of performing high quality biomarker studies. The complexity of these technologies and of the resulting high-dimensional data require rigorous technical, statistical, bioinformatics, laboratory, and clinical procedures to develop, evaluate and validate these tests. A number of considerations are key to the design and successful execution of genomic biomarker studies. These include the assessment of (1) the complexity and heterogeneity of cancer samples, (2) the quality and quantity of tumor specimens, (3) the potential bias inherent in the assays, (4) the availability of appropriatecontrols or standards, (5) technical validation of assays and bioinformatics analysis, and (6) the validity of the final interpretation of results. In this chapter, we review these key considerations required to design and conduct biomarker studies that will yield results that can confidently inform future clinical research and clinical practice.