December 5, 2020

Download Ebook Free Clinical Applications For Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release Date : 2015-09-10
Category : Science
Total pages :334
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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

Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release Date : 2015-10-13
Category : Science
Total pages :334
GET BOOK

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

Clinical Applications of Next Generation Sequencing Technology

Clinical Applications of Next Generation Sequencing Technology
Author : Anonim
Publisher : Unknown
Release Date : 2018
Category :
Total pages :178
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Clinical Genomics

Clinical Genomics
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release Date : 2014-11-10
Category : Science
Total pages :488
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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

Applications of RNA-Seq and Omics Strategies

Applications of RNA-Seq and Omics Strategies
Author : Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo
Publisher : BoD – Books on Demand
Release Date : 2017-09-13
Category : Medical
Total pages :328
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The large potential of RNA sequencing and other "omics" techniques has contributed to the production of a huge amount of data pursuing to answer many different questions that surround the science's great unknowns. This book presents an overview about powerful and cost-efficient methods for a comprehensive analysis of RNA-Seq data, introducing and revising advanced concepts in data analysis using the most current algorithms. A holistic view about the entire context where transcriptome is inserted is also discussed here encompassing biological areas with remarkable technological advances in the study of systems biology, from microorganisms to precision medicine.

Next Generation Sequencing

Next Generation Sequencing
Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Release Date : 2013-05-31
Category : Medical
Total pages :302
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In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

Next Generation Sequencing in Cancer Research, Volume 2

Next Generation Sequencing in Cancer Research, Volume 2
Author : Wei Wu,Hani Choudhry
Publisher : Springer
Release Date : 2015-04-25
Category : Medical
Total pages :493
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Latest generation sequencing revolutionizes the fields of cancer research and oncology. This follow-up volume focuses more extensively on single cell sequencing of cancer and trials in drug resistance. Another exciting feature is the bioinformatics tools given, that can be used on cancer genome studies. Scientists around the world are attempting to find the root cause of cancer. A reasonable cancer treatment plan and potential cure is more optimistic now with the unfolding of the cancer genome. The collective knowledge of how to leverage next generation sequencing in cancer research is paving the way. The important information provided in this volume will move the field forward in developing novel targeted cancer therapies.

Next Generation Sequencing in Cancer Research

Next Generation Sequencing in Cancer Research
Author : Wei Wu,Hani Choudhry
Publisher : Springer Science & Business Media
Release Date : 2013-08-04
Category : Medical
Total pages :383
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​​​​This volume provides an interdisciplinary perspective of applying Next Generation Sequencing (NGS) technology to cancer research. It aims to systematically introduce the concept of NGS, a variety of NGS platforms and their practical implications in cancer biology.This unique and comprehensive text will integrate the unprecedented NGS technology into various cancer research projects as opposed to most books which offer a detailed description of the technology. This volume will present true experimental results with concrete data processing pipelines, discuss the bottleneck of each platform for real project in cancer research. In additional, single cancer cell sequencing as the proof of concept will be introduced in this book, along with cutting-edge information provided will help the intended audience to develop a comprehensive understanding of the NGS technology and practical whole genome sequencing data analysis and rapidly translate into their own research, specifically in the field of cancer biology.

Next Generation Sequencing Technologies in Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics
Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer Science & Business Media
Release Date : 2013-10-16
Category : Medical
Total pages :94
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This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.​

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
Author : Lee-Jun C. Wong
Publisher : Springer
Release Date : 2017-05-15
Category : Science
Total pages :364
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Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.

Computational Methods for Next Generation Sequencing Data Analysis

Computational Methods for Next Generation Sequencing Data Analysis
Author : Ion Mandoiu,Alexander Zelikovsky
Publisher : John Wiley & Sons
Release Date : 2016-09-12
Category : Computers
Total pages :464
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Introduces readers to core algorithmic techniques for next-generation sequencing (NGS) data analysis and discusses a wide range of computational techniques and applications This book provides an in-depth survey of some of the recent developments in NGS and discusses mathematical and computational challenges in various application areas of NGS technologies. The 18 chapters featured in this book have been authored by bioinformatics experts and represent the latest work in leading labs actively contributing to the fast-growing field of NGS. The book is divided into four parts: Part I focuses on computing and experimental infrastructure for NGS analysis, including chapters on cloud computing, modular pipelines for metabolic pathway reconstruction, pooling strategies for massive viral sequencing, and high-fidelity sequencing protocols. Part II concentrates on analysis of DNA sequencing data, covering the classic scaffolding problem, detection of genomic variants, including insertions and deletions, and analysis of DNA methylation sequencing data. Part III is devoted to analysis of RNA-seq data. This part discusses algorithms and compares software tools for transcriptome assembly along with methods for detection of alternative splicing and tools for transcriptome quantification and differential expression analysis. Part IV explores computational tools for NGS applications in microbiomics, including a discussion on error correction of NGS reads from viral populations, methods for viral quasispecies reconstruction, and a survey of state-of-the-art methods and future trends in microbiome analysis. Computational Methods for Next Generation Sequencing Data Analysis: Reviews computational techniques such as new combinatorial optimization methods, data structures, high performance computing, machine learning, and inference algorithms Discusses the mathematical and computational challenges in NGS technologies Covers NGS error correction, de novo genome transcriptome assembly, variant detection from NGS reads, and more This text is a reference for biomedical professionals interested in expanding their knowledge of computational techniques for NGS data analysis. The book is also useful for graduate and post-graduate students in bioinformatics.

P5 eHealth: An Agenda for the Health Technologies of the Future

P5 eHealth: An Agenda for the Health Technologies of the Future
Author : Gabriella Pravettoni,Stefano Triberti
Publisher : Springer Nature
Release Date : 2019-11-29
Category : Medical
Total pages :189
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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.

Game Changer-Next Generation Sequencing and Its Impact on Food Microbiology

Game Changer-Next Generation Sequencing and Its Impact on Food Microbiology
Author : Jennifer Ronholm,Sabah Bidawid,Sandra Torriani
Publisher : Frontiers Media SA
Release Date : 2018-04-26
Category :
Total pages :129
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Advances in next-generation sequencing technologies (NGS) are revolutionizing the field of food microbiology. Microbial whole genome sequencing (WGS) can provide identification, characterization, and subtyping of pathogens for epidemiological investigations at a level of precision previously not possible. This allows for connections and source attribution to be inferred between related isolates that may be overlooked by traditional techniques. The archiving and global sharing of genome sequences allow for retrospective analysis of virulence genes, antimicrobial resistance markers, mobile genetic elements and other novel genes. The advent of high-throughput 16S rRNA amplicon sequencing, in combination with the advantages offered by massively parallel second-generation sequencing for metagenomics, enable intensive studies on the microbiomes of food products and the impact of foods on the human microbiome. These studies may one day lead to the development of reliable culture-independent methods for food monitoring and surveillance. Similarly, RNA-seq has provided insights into the transcriptomes and hence the behaviour of bacterial pathogens in food, food processing environments, and in interaction with the host at a resolution previously not achieved through the use of microarrays and/or RT-PCR. The vast un-tapped potential applications of NGS along with its rapidly declining costs, give this technology the ability to contribute significantly to consumer protection, global trade facilitation, and increased food safety and security. Despite the rapid advances, challenges remain. How will NGS data be incorporated into our existing global food safety infrastructure? How will massive NGS data be stored and shared globally? What bioinformatics solutions will be used to analyse and optimise these large data sets? This Research Topic discusses recent advances in the field of food microbiology made possible through the use of NGS.

Next-Generation Sequencing in Medicine

Next-Generation Sequencing in Medicine
Author : W. Richard McCombie,Elaine Mardis,John D. Mcpherson,James A. Knowles
Publisher : Perspectives Cshl
Release Date : 2019-01-31
Category : Medical
Total pages :350
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Next-generation sequencing technologies have the capacity to generate large numbers of DNA sequence reads at relatively high speed and low cost. These technologies have revolutionized biomedical research and are increasingly employed in clinical settings, where they can be used to detect inherited disorders, predict disease risk, and personalize therapies. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine examines next-generation sequencing technologies and their use, particularly in translational research. The contributors discuss the various sequencing platforms, their capabilities, and their applications in both research and clinical practice. The roles of next-generation sequencing in diagnosing autism and intellectual disabilities, monitoring cancers during disease progression, and determining the most appropriate drug treatments for patients are also covered. In addition, the authors consider the practical challenges (e.g., data storage) and ethical implications of using next-generation sequencing technologies. This volume is therefore an essential read for all scientists and physicians interested in these technologies and how they are impacting biomedicine.

Application of Next-Generation Sequencing in the Era of Precision Medicine

Application of Next-Generation Sequencing in the Era of Precision Medicine
Author : Michele Araújo Pereira
Publisher : Unknown
Release Date : 2017
Category : Medicine
Total pages :129
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Next-generation sequencing (NGS) technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. The relatively fast emergence and success of NGS in research revolutionized the field of genomics and medical diagnosis. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. This chapter attempts to review the main features of NGS technique (concepts, data analysis, applications, advances and challenges), starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-exome sequencing (WES), whole-genome sequencing (WGS), custom panels (multi-gene), RNA-seq and epigenetic. The potential use of NGS in precision medicine is vast and a better knowledge of this technique is necessary for an efficacious implementation in the clinical workplace. A centralized chapter describing the main NGS aspects in the clinic could help beginners, scientists, researchers and health care professionals, as they will be responsible for translating genomic data into genomic medicine.