Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations PDF Download
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Author: Ali Samadikuchaksaraei
Publisher: BoD – Books on Demand
ISBN: 1789237998
Category : Medical
Languages : en
Pages : 102
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Book Description
Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular patterns and pattern biomarkers in cancer diagnosis and prognosis, and genotyping and profiling resistance-associated variants of hepatitis C. If your research or clinical practice involves handling of genomic sequencing data, this book is for you.
Author: Ali Samadikuchaksaraei
Publisher: BoD – Books on Demand
ISBN: 1789237998
Category : Medical
Languages : en
Pages : 102
Get Book
Book Description
Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular patterns and pattern biomarkers in cancer diagnosis and prognosis, and genotyping and profiling resistance-associated variants of hepatitis C. If your research or clinical practice involves handling of genomic sequencing data, this book is for you.
Author: Vinod Scaria
Publisher: Research in Genomics
ISBN:
Category : Computers
Languages : en
Pages : 124
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Book Description
A concise handbook on exome sequencing for clinicians and clinical geneticists.
Author: Christophe Lambert
Publisher: Academic Press
ISBN: 0128134313
Category : Medical
Languages : en
Pages : 314
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Book Description
Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine
Author: Geoffrey S. Ginsburg
Publisher: Academic Press
ISBN: 0123822270
Category : Science
Languages : en
Pages : 1343
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Book Description
Genomic and Personalized Medicine, Second Edition - winner of a 2013 Highly Commended BMA Medical Book Award for Medicine - is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis
Author: Conxi Lázaro
Publisher: Academic Press
ISBN: 0128205202
Category : Medical
Languages : en
Pages : 436
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Book Description
Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes
Author: Noor Ahmad Shaik
Publisher: Springer Nature
ISBN: 3030183750
Category : Science
Languages : en
Pages : 309
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Book Description
Bioinformatics is an integrative field of computer science, genetics, genomics, proteomics, and statistics, which has undoubtedly revolutionized the study of biology and medicine in past decades. It mainly assists in modeling, predicting and interpreting large multidimensional biological data by utilizing advanced computational methods. Despite its enormous potential, bioinformatics is not widely integrated into the academic curriculum as most life science students and researchers are still not equipped with the necessary knowledge to take advantage of this powerful tool. Hence, the primary purpose of our book is to supplement this unmet need by providing an easily accessible platform for students and researchers starting their career in life sciences. This book aims to avoid sophisticated computational algorithms and programming. Instead, it focuses on simple DIY analysis and interpretation of biological data with personal computers. Our belief is that once the beginners acquire these basic skillsets, they will be able to handle most of the bioinformatics tools for their research work and to better understand their experimental outcomes. Our second title of this volume set In Silico Life Sciences: Medicine provides hands-on experience in analyzing high throughput molecular data for the diagnosis, prognosis, and treatment of monogenic or polygenic human diseases. The key concepts in this volume include risk factor assessment, genetic tests and result interpretation, personalized medicine, and drug discovery. This volume is expected to train readers in both single and multi-dimensional biological analysis using open data sets, and provides a unique learning experience through clinical scenarios and case studies.
Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309224187
Category : Science
Languages : en
Pages : 354
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Book Description
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.
Author: Sepp Hochreiter
Publisher: Springer
ISBN: 354071233X
Category : Science
Languages : en
Pages : 482
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Book Description
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.
Author: Buwei Yu
Publisher: Springer
ISBN: 9789811544965
Category : Science
Languages : en
Pages : 247
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Book Description
With the rapid development of biotechnologies, single-cell sequencing has become an important tool for understanding the molecular mechanisms of diseases, defining cellular heterogeneities and characteristics, and identifying intercellular communications and single-cell-based biomarkers. Providing a clear overview of the clinical applications, the book presents state-of-the-art information on immune cell function, cancer progression, infection, and inflammation gained from single-cell DNA or RNA sequencing. Furthermore, it explores the role of target gene methylation in the pathogenesis of diseases, with a focus on respiratory cancer, infection and chronic diseases. As such it is a valuable resource for clinical researchers and physicians, allowing them to refresh their knowledge and improve early diagnosis and therapy for patients.
Author: Peter N. Robinson
Publisher: CRC Press
ISBN: 1351650815
Category : Computers
Languages : en
Pages : 518
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Book Description
Exome and genome sequencing are revolutionizing medical research and diagnostics, but the computational analysis of the data has become an extremely heterogeneous and often challenging area of bioinformatics. Computational Exome and Genome Analysis provides a practical introduction to all of the major areas in the field, enabling readers to develop a comprehensive understanding of the sequencing process and the entire computational analysis pipeline.
