Bioinformatics Tools For Detection And Clinical Interpretation Of Genomic Variations

Download Bioinformatics Tools For Detection And Clinical Interpretation Of Genomic Variations full books in PDF, epub, and Kindle. Read online Bioinformatics Tools For Detection And Clinical Interpretation Of Genomic Variations ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Author : Ali Samadikuchaksaraei
Publisher : BoD – Books on Demand
ISBN 13 : 1789237998
Total Pages : 102 pages
Book Rating : 4.7/5 (892 download)

DOWNLOAD NOW!

Book Synopsis Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations by : Ali Samadikuchaksaraei

Download or read book Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations written by Ali Samadikuchaksaraei and published by BoD – Books on Demand. This book was released on 2019-09-04 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Biological Sequence Analysis

Author : Richard Durbin
Publisher : Cambridge University Press
ISBN 13 : 113945739X
Total Pages : 372 pages
Book Rating : 4.1/5 (394 download)

DOWNLOAD NOW!

Book Synopsis Biological Sequence Analysis by : Richard Durbin

Download or read book Biological Sequence Analysis written by Richard Durbin and published by Cambridge University Press. This book was released on 1998-04-23 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Evolution of Translational Omics

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309224187
Total Pages : 354 pages
Book Rating : 4.3/5 (92 download)

DOWNLOAD NOW!

Book Synopsis Evolution of Translational Omics by : Institute of Medicine

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.

Handbook of Statistical Genomics

Author : David J. Balding
Publisher : John Wiley & Sons
ISBN 13 : 1119429250
Total Pages : 1740 pages
Book Rating : 4.1/5 (194 download)

DOWNLOAD NOW!

Book Synopsis Handbook of Statistical Genomics by : David J. Balding

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 1740 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.

Computational Exome and Genome Analysis

Author : Peter N. Robinson
Publisher : CRC Press
ISBN 13 : 1498775993
Total Pages : 575 pages
Book Rating : 4.4/5 (987 download)

DOWNLOAD NOW!

Book Synopsis Computational Exome and Genome Analysis by : Peter N. Robinson

Download or read book Computational Exome and Genome Analysis written by Peter N. Robinson and published by CRC Press. This book was released on 2017-09-13 with total page 575 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genomic Applications in Pathology

Author : George Jabboure Netto
Publisher : Springer
ISBN 13 : 3319968300
Total Pages : 631 pages
Book Rating : 4.3/5 (199 download)

DOWNLOAD NOW!

Book Synopsis Genomic Applications in Pathology by : George Jabboure Netto

Download or read book Genomic Applications in Pathology written by George Jabboure Netto and published by Springer. This book was released on 2018-12-10 with total page 631 pages. Available in PDF, EPUB and Kindle. Book excerpt: The recent advances in genomics are continuing to reshape our approach to diagnostics, prognostics and therapeutics in oncologic and other disorders. A paradigm shift in pharmacogenomics and in the diagnosis of genetic inherited diseases and infectious diseases is unfolding as the result of implementation of next generation genomic technologies. With rapidly growing knowledge and applications driving this revolution, along with significant technologic and cost changes, genomic approaches are becoming the primary methods in many laboratories and for many diseases. As a result, a plethora of clinical genomic applications have been implemented in diagnostic pathology laboratories, and the applications and demands continue to evolve rapidly. This has created a tremendous need for a comprehensive resource on genomic applications in clinical and anatomic pathology. We believe that our current textbook provides such a resource to practicing molecular pathologists, hematopathologists and other subspecialized pathologists, general pathologists, pathology and other trainees, oncologists, geneticists and a growing spectrum of other clinicians. With periodic updates and a sufficiently rapid time from submission to publication, this textbook will be the resource of choice for many professionals and teaching programs. Its focus on genomics parallels the evolution of these technologies as primary methods in the clinical lab. The rapid evolution of genomics and its applications in medicine necessitates the (frequent) updating of this publication. This text will provide a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays will be discussed together with issues related to reporting and the pathologist’s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms will be detailed. Genomic applications in pharmacogenomics, inherited genetic diseases and infectious diseases will also be discussed. The latest iteration of practice recommendations or guidelines in genomic testing put forth by stakeholder professional organizations such as the College of American Pathology and the Association for Molecular Pathology, will be discussed as well as regulatory issues and laboratory accreditation related to genomic testing. All chapters will be written by experts in their fields and will include the most up to date scientific and clinical information.

Single-cell Sequencing and Methylation

Author : Buwei Yu
Publisher : Springer
ISBN 13 : 9789811544934
Total Pages : 247 pages
Book Rating : 4.5/5 (449 download)

DOWNLOAD NOW!

Book Synopsis Single-cell Sequencing and Methylation by : Buwei Yu

Download or read book Single-cell Sequencing and Methylation written by Buwei Yu and published by Springer. This book was released on 2020-10-14 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Current Protocols in Bioinformatics

Author : Andreas D. Baxevanis
Publisher : Current Protocols
ISBN 13 : 9780471250937
Total Pages : 0 pages
Book Rating : 4.2/5 (59 download)

DOWNLOAD NOW!

Book Synopsis Current Protocols in Bioinformatics by : Andreas D. Baxevanis

Download or read book Current Protocols in Bioinformatics written by Andreas D. Baxevanis and published by Current Protocols. This book was released on 2003 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Current Protocols in Bioinformatics is the only publication that responds to the need for both a current and updateable source of bioinformatics methodology. This unique publication assures that you have access to a full range of bioinformatics protocols written by globally-recognized experts in the field, and that these proto-cols are updated and revised as new developments and innovations occur.

Preventive and Predictive Genetics: Towards Personalised Medicine

Author : Godfrey Grech
Publisher : Springer
ISBN 13 : 3319153447
Total Pages : 388 pages
Book Rating : 4.3/5 (191 download)

DOWNLOAD NOW!

Book Synopsis Preventive and Predictive Genetics: Towards Personalised Medicine by : Godfrey Grech

Download or read book Preventive and Predictive Genetics: Towards Personalised Medicine written by Godfrey Grech and published by Springer. This book was released on 2015-06-24 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacogenomics supports personalized medicine by translating genome-based knowledge into clinical practice, offering enhanced benefit for patients and health-care systems at large. Current routine practice for diagnosing and treating patients is conducted by correlating parameters such as age, gender and weight with risks and expected treatment outcomes. In the new era of personalized medicine the healthcare provider is equipped with improved ability to prevent, diagnose, treat and predict outcomes on the basis of complex information sources, including genetic and genomic data. Targeted therapy and reliable prediction of expected outcomes offer patients access to better healthcare management, by way of identifying the therapies effective for the relevant patient group, avoiding prescription of unnecessary treatment and reducing the likelihood of developing adverse drug reactions.

Clinical Genomics

Author : Shashikant Kulkarni
Publisher : Academic Press
ISBN 13 : 0124051731
Total Pages : 489 pages
Book Rating : 4.1/5 (24 download)

DOWNLOAD NOW!

Book Synopsis Clinical Genomics by : Shashikant Kulkarni

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. - Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm - Tried and tested practice-based analysis for precision diagnosis and treatment plans - Specific pipelines and meta-analysis for full range of clinically important variants

Kernel Methods for Pattern Analysis

Author : John Shawe-Taylor
Publisher : Cambridge University Press
ISBN 13 : 9780521813976
Total Pages : 520 pages
Book Rating : 4.8/5 (139 download)

DOWNLOAD NOW!

Book Synopsis Kernel Methods for Pattern Analysis by : John Shawe-Taylor

Download or read book Kernel Methods for Pattern Analysis written by John Shawe-Taylor and published by Cambridge University Press. This book was released on 2004-06-28 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher Description

Practical Guide to Life Science Databases

Author : Imad Abugessaisa
Publisher : Springer Nature
ISBN 13 : 9811658129
Total Pages : 228 pages
Book Rating : 4.8/5 (116 download)

DOWNLOAD NOW!

Book Synopsis Practical Guide to Life Science Databases by : Imad Abugessaisa

Download or read book Practical Guide to Life Science Databases written by Imad Abugessaisa and published by Springer Nature. This book was released on 2022-01-06 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Molecular Genetic Pathology

Author : Liang Cheng
Publisher : Springer
ISBN 13 : 9781461447993
Total Pages : 1136 pages
Book Rating : 4.4/5 (479 download)

DOWNLOAD NOW!

Book Synopsis Molecular Genetic Pathology by : Liang Cheng

Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.

Clinical Bioinformatics

Author : Ronald Trent
Publisher : Humana
ISBN 13 : 9781493947003
Total Pages : 0 pages
Book Rating : 4.9/5 (47 download)

DOWNLOAD NOW!

Book Synopsis Clinical Bioinformatics by : Ronald Trent

Download or read book Clinical Bioinformatics written by Ronald Trent and published by Humana. This book was released on 2016-08-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In Clinical Bioinformatics, Second Edition, leading experts in the field provide a series of articles focusing on software applications used to translate information into outcomes of clinical relevance. Recent developments in omics, such as increasingly sophisticated analytic platforms allowing changes in diagnostic strategies from the traditional focus on single or small number of analytes to what might be possible when large numbers or all analytes are measured, are now impacting patient care. Covering such topics as gene discovery, gene function (microarrays), DNA sequencing, online approaches and resources, and informatics in clinical practice, this volume concisely yet thoroughly explores this cutting-edge subject. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Clinical Bioinformatics, Second Edition serves as an ideal guide for scientists and health professionals working in genetics and genomics.

Precision Cancer Medicine

Author : Sameek Roychowdhury
Publisher : Springer Nature
ISBN 13 : 3030236374
Total Pages : 196 pages
Book Rating : 4.0/5 (32 download)

DOWNLOAD NOW!

Book Synopsis Precision Cancer Medicine by : Sameek Roychowdhury

Download or read book Precision Cancer Medicine written by Sameek Roychowdhury and published by Springer Nature. This book was released on 2020-01-02 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

Human Gene Mutation

Author : David N. Cooper
Publisher : Taylor & Francis
ISBN 13 : 9781859960554
Total Pages : 412 pages
Book Rating : 4.9/5 (65 download)

DOWNLOAD NOW!

Book Synopsis Human Gene Mutation by : David N. Cooper

Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

Genomic Disorders

Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

DOWNLOAD NOW!

Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.