Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii

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Clinical Applications for Next-Generation Sequencing

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Author : Urszula Demkow
Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 336 pages
Book Rating : 4.1/5 (28 download)

Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies

Next generation sequencing (NGS) for rare diseases diagnosis - volume II

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Author : Xiu-An Yang
Publisher : Frontiers Media SA
ISBN 13 : 2832530729
Total Pages : 165 pages
Book Rating : 4.8/5 (325 download)

Book Synopsis Next generation sequencing (NGS) for rare diseases diagnosis - volume II by : Xiu-An Yang

Download or read book Next generation sequencing (NGS) for rare diseases diagnosis - volume II written by Xiu-An Yang and published by Frontiers Media SA. This book was released on 2023-07-31 with total page 165 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Genomics of Rare Diseases

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Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 318 pages
Book Rating : 4.1/5 (282 download)

Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Essentials of Bioinformatics, Volume II

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Author : Noor Ahmad Shaik
Publisher : Springer Nature
ISBN 13 : 3030183750
Total Pages : 316 pages
Book Rating : 4.0/5 (31 download)

Book Synopsis Essentials of Bioinformatics, Volume II by : Noor Ahmad Shaik

Download or read book Essentials of Bioinformatics, Volume II written by Noor Ahmad Shaik and published by Springer Nature. This book was released on 2019-10-18 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Childhood Acute Lymphoblastic Leukemia

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Author : Ajay Vora
Publisher : Springer
ISBN 13 : 3319397087
Total Pages : 345 pages
Book Rating : 4.3/5 (193 download)

Book Synopsis Childhood Acute Lymphoblastic Leukemia by : Ajay Vora

Download or read book Childhood Acute Lymphoblastic Leukemia written by Ajay Vora and published by Springer. This book was released on 2017-04-21 with total page 345 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.

Next Generation Sequencing (NGS) for Rare Diseases Diagnosis

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Author : Xiu-An Yang
Publisher : Frontiers Media SA
ISBN 13 : 2889742032
Total Pages : 104 pages
Book Rating : 4.8/5 (897 download)

Book Synopsis Next Generation Sequencing (NGS) for Rare Diseases Diagnosis by : Xiu-An Yang

Download or read book Next Generation Sequencing (NGS) for Rare Diseases Diagnosis written by Xiu-An Yang and published by Frontiers Media SA. This book was released on 2022-01-28 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Next Generation Sequencing

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Author : Jerzy Kulski
Publisher : BoD – Books on Demand
ISBN 13 : 9535122401
Total Pages : 466 pages
Book Rating : 4.5/5 (351 download)

Book Synopsis Next Generation Sequencing by : Jerzy Kulski

Download or read book Next Generation Sequencing written by Jerzy Kulski and published by BoD – Books on Demand. This book was released on 2016-01-14 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: Next generation sequencing (NGS) has surpassed the traditional Sanger sequencing method to become the main choice for large-scale, genome-wide sequencing studies with ultra-high-throughput production and a huge reduction in costs. The NGS technologies have had enormous impact on the studies of structural and functional genomics in all the life sciences. In this book, Next Generation Sequencing Advances, Applications and Challenges, the sixteen chapters written by experts cover various aspects of NGS including genomics, transcriptomics and methylomics, the sequencing platforms, and the bioinformatics challenges in processing and analysing huge amounts of sequencing data. Following an overview of the evolution of NGS in the brave new world of omics, the book examines the advances and challenges of NGS applications in basic and applied research on microorganisms, agricultural plants and humans. This book is of value to all who are interested in DNA sequencing and bioinformatics across all fields of the life sciences.

Microbial Forensics

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Author : Bruce Budowle
Publisher : Academic Press
ISBN 13 : 0123820073
Total Pages : 753 pages
Book Rating : 4.1/5 (238 download)

Book Synopsis Microbial Forensics by : Bruce Budowle

Download or read book Microbial Forensics written by Bruce Budowle and published by Academic Press. This book was released on 2010-10-27 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. - A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference - New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few - Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

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Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Advancing genomics for rare disease diagnosis and therapy development vol II

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Author : Weida Tong
Publisher : Frontiers Media SA
ISBN 13 : 283253323X
Total Pages : 400 pages
Book Rating : 4.8/5 (325 download)

Book Synopsis Advancing genomics for rare disease diagnosis and therapy development vol II by : Weida Tong

Download or read book Advancing genomics for rare disease diagnosis and therapy development vol II written by Weida Tong and published by Frontiers Media SA. This book was released on 2023-09-07 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt:

SEER, Surveillance, Epidemiology, and End Results Program

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Author : SEER Program (National Cancer Institute (U.S.))
Publisher :
ISBN 13 :
Total Pages : 16 pages
Book Rating : 4.3/5 (91 download)

Book Synopsis SEER, Surveillance, Epidemiology, and End Results Program by : SEER Program (National Cancer Institute (U.S.))

Download or read book SEER, Surveillance, Epidemiology, and End Results Program written by SEER Program (National Cancer Institute (U.S.)) and published by . This book was released on 2000 with total page 16 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Rare Diseases Epidemiology: Update and Overview

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Author : Manuel Posada de la Paz
Publisher : Springer
ISBN 13 : 3319671448
Total Pages : 675 pages
Book Rating : 4.3/5 (196 download)

Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz

Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Evolution of Translational Omics

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

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.

Genomic Disorders

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

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.

Computational Exome and Genome Analysis

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

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.

Human Gene Mutation

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

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.

NGS Technologies of Rare Diseases Diagnosis

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Author : María L. Couce
Publisher : Frontiers Media SA
ISBN 13 : 2832508766
Total Pages : 257 pages
Book Rating : 4.8/5 (325 download)

Book Synopsis NGS Technologies of Rare Diseases Diagnosis by : María L. Couce

Download or read book NGS Technologies of Rare Diseases Diagnosis written by María L. Couce and published by Frontiers Media SA. This book was released on 2022-12-05 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: