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Computational And Experimental Protein Variant Interpretation In The Era Of Precision Medicine


Computational And Experimental Protein Variant Interpretation In The Era Of Precision Medicine
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Computational And Experimental Protein Variant Interpretation In The Era Of Precision Medicine


Computational And Experimental Protein Variant Interpretation In The Era Of Precision Medicine
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Author : Daniele Dell'Orco
language : en
Publisher: Frontiers Media SA
Release Date : 2024-01-26

Computational And Experimental Protein Variant Interpretation In The Era Of Precision Medicine written by Daniele Dell'Orco and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-01-26 with Science categories.


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.



Handbook Of Statistical Genomics


Handbook Of Statistical Genomics
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Author : David J. Balding
language : en
Publisher: John Wiley & Sons
Release Date : 2019-07-09

Handbook Of Statistical Genomics written by David J. Balding and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-07-09 with Science categories.


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.



P5 Ehealth An Agenda For The Health Technologies Of The Future


P5 Ehealth An Agenda For The Health Technologies Of The Future
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Author : Gabriella Pravettoni
language : en
Publisher: Springer Nature
Release Date : 2019-11-29

P5 Ehealth An Agenda For The Health Technologies Of The Future written by Gabriella Pravettoni and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-11-29 with Psychology categories.


This open access volume focuses on the development of a P5 eHealth, or better, a methodological resource for developing the health technologies of the future, based on patients’ personal characteristics and needs as the fundamental guidelines for design. It provides practical guidelines and evidence based examples on how to design, implement, use and elevate new technologies for healthcare to support the management of incurable, chronic conditions. The volume further discusses the criticalities of eHealth, why it is difficult to employ eHealth from an organizational point of view or why patients do not always accept the technology, and how eHealth interventions can be improved in the future. By dealing with the state-of-the-art in eHealth technologies, this volume is of great interest to researchers in the field of physical and mental healthcare, psychologists, stakeholders and policymakers as well as technology developers working in the healthcare sector.



Bioinformatics Research And Development


Bioinformatics Research And Development
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Author : Sepp Hochreiter
language : en
Publisher: Springer
Release Date : 2007-05-21

Bioinformatics Research And Development written by Sepp Hochreiter and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-05-21 with Science categories.


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.



Encyclopedia Of Bioinformatics And Computational Biology


Encyclopedia Of Bioinformatics And Computational Biology
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Author :
language : en
Publisher: Elsevier
Release Date : 2018-08-21

Encyclopedia Of Bioinformatics And Computational Biology written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-08-21 with Medical categories.


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



Personalized Medicine


Personalized Medicine
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Author :
language : en
Publisher: Academic Press
Release Date : 2016-01-28

Personalized Medicine written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-01-28 with Science categories.


The Advances in Protein Chemistry and Structural Biology series is an essential resource for protein chemists. Each volume brings forth new information about protocols and analysis of proteins, with each thematically organized volume guest edited by leading experts in a broad range of protein-related topics. Provides cutting-edge developments in protein chemistry and structural biology Chapters are written by authorities in their field Targeted to a wide audience of researchers, specialists, and students



Evolution Of Translational Omics


Evolution Of Translational Omics
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2012-09-13

Evolution Of Translational Omics written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-13 with Science categories.


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.



Precision Medicine And Artificial Intelligence


Precision Medicine And Artificial Intelligence
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Author : Michael Mahler
language : en
Publisher: Academic Press
Release Date : 2021-03-12

Precision Medicine And Artificial Intelligence written by Michael Mahler and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-03-12 with Science categories.


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



Translational Biomedical Informatics


Translational Biomedical Informatics
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Author : Bairong Shen
language : en
Publisher: Springer
Release Date : 2016-10-31

Translational Biomedical Informatics written by Bairong Shen and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-31 with Science categories.


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.



Applying Machine Learning Techniques To Bioinformatics Few Shot And Zero Shot Methods


Applying Machine Learning Techniques To Bioinformatics Few Shot And Zero Shot Methods
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Author : Lilhore, Umesh Kumar
language : en
Publisher: IGI Global
Release Date : 2024-03-22

Applying Machine Learning Techniques To Bioinformatics Few Shot And Zero Shot Methods written by Lilhore, Umesh Kumar and has been published by IGI Global this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-03-22 with Computers categories.


Why are cutting-edge data science techniques such as bioinformatics, few-shot learning, and zero-shot learning underutilized in the world of biological sciences?. In a rapidly advancing field, the failure to harness the full potential of these disciplines limits scientists’ ability to unlock critical insights into biological systems, personalized medicine, and biomarker identification. This untapped potential hinders progress and limits our capacity to tackle complex biological challenges. The solution to this issue lies within the pages of Applying Machine Learning Techniques to Bioinformatics. This book serves as a powerful resource, offering a comprehensive analysis of how these emerging disciplines can be effectively applied to the realm of biological research. By addressing these challenges and providing in-depth case studies and practical implementations, the book equips researchers, scientists, and curious minds with the knowledge and techniques needed to navigate the ever-changing landscape of bioinformatics and machine learning within the biological sciences.