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Clinical Applications For Next Generation Sequencing

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Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing Book
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Release : 2015-09-10
ISBN : 0128018410
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Anonim
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Download Clinical Applications of Next Generation Sequencing Technology book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Clinical Applications of Next generation Sequencing

Clinical Applications of Next generation Sequencing Book
Author : Linda Koch
Publisher : Unknown
Release : 2014
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Clinical Applications of Next generation Sequencing book written by Linda Koch, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Molecular Diagnosis of Deafness

Molecular Diagnosis of Deafness Book
Author : Kunihiro Fukushima
Publisher : Unknown
Release : 2015
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Molecular Diagnosis of Deafness book written by Kunihiro Fukushima, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Next Generation Sequencing

Next Generation Sequencing Book
Author : BCC Research
Publisher : Unknown
Release : 2017-06
ISBN : 9781622965137
Language : En, Es, Fr & De

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Book Description :

Download Next Generation Sequencing book written by BCC Research, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Clinical Application of Next Generation Sequencing Data in Virology and Oncology

Clinical Application of Next Generation Sequencing Data in Virology and Oncology Book
Author : Kerstin Haase
Publisher : Unknown
Release : 2016
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Clinical Application of Next Generation Sequencing Data in Virology and Oncology book written by Kerstin Haase, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Chemical Diagnostics

Chemical Diagnostics Book
Author : Nelson L.S. Tang,Terence Poon
Publisher : Springer
Release : 2013-12-06
ISBN : 3642399428
Language : En, Es, Fr & De

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Book Description :

Next Generation Sequencing: Chemistry, Technology and Applications, by P. Hui Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases, by W. Zhang, H. Cui, L.-J.C. Wong Clinical Applications of the Latest Molecular Diagnostics in Noninvasive Prenatal Diagnosis, by K.C.A. Chan The Role of Protein Structural Analysis in the Next Generation Sequencing Era, by W.W. Yue, D.S. Froese, P.E. Brennan Emerging Applications of Single-Cell Diagnostics, by M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput Clinical Biomarker Assays: Multiple Reaction Monitoring, by C.E. Parker, D. Domanski, A.J. Percy, A.G. Chambers, A.G. Camenzind, D.S. Smith, C.H. Borchers Advances in MALDI Mass Spectrometry in Clinical Diagnostic Applications, by E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases, by W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu

Next Generation Sequencing Technologies in Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics Book
Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer
Release : 2013-10-29
ISBN : 9781461490319
Language : En, Es, Fr & De

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Book Description :

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 Technologies in Medical Genetics

Next Generation Sequencing Technologies in Medical Genetics Book
Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer Science & Business Media
Release : 2013-10-16
ISBN : 1461490324
Language : En, Es, Fr & De

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Book Description :

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 in Cancer Research

Next Generation Sequencing in Cancer Research Book
Author : Wei Wu,Hani Choudhry
Publisher : Springer Science & Business Media
Release : 2013-08-04
ISBN : 1461476453
Language : En, Es, Fr & De

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Book Description :

​​​​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.

Application of Next Generation Sequencing in the Era of Precision Medicine

Application of Next Generation Sequencing in the Era of Precision Medicine Book
Author : Michele Araújo Pereira
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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.

Umbilical Cord Blood Banking for Clinical Application and Regenerative Medicine

Umbilical Cord Blood Banking for Clinical Application and Regenerative Medicine Book
Author : Ana Colette Maurício
Publisher : BoD – Books on Demand
Release : 2017-01-11
ISBN : 9535128655
Language : En, Es, Fr & De

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Book Description :

Umbilical cord blood (UCB) and, more recently, umbilical cord tissue (UCT) have been stored cryopreserved in private and public cord blood and tissue banks worldwide, since the umbilical cord blood was used for the first time in a child with Fanconi anemia with his HLA-identical sibling, following strict guidelines that imply high-quality standards and total rastreability of these units. The hematopoietic stem cells (HSCs) are clinically used in hematopoietic treatments for blood disorders and hemato-oncological diseases. Also, the mesenchymal stem cells (MSCs) isolated from the UCT and UCB, nowadays, can be used as coadjuvants of hematopoietic transplants. In the near future, these stem cells will have a crucial role in regenerative medicine. For this reason, these cells have been tested in several clinical trials and compassive treatments in children and adults, concerning a wide range of pathologies and diseases, for instance, for the treatment of cerebral paralysis. Considering the worldwide availability of UCB and UCT units and the absence of ethical concerns will probably become the best sources for cell-based therapies for hematological and nonhematological pathologies. The UCB will also have a crucial role in neonatology-predictive analysis in the near future.

Integration of Omics Approaches and Systems Biology for Clinical Applications

Integration of Omics Approaches and Systems Biology for Clinical Applications Book
Author : Antonia Vlahou,Fulvio Magni,Harald Mischak,Jerome Zoidakis
Publisher : John Wiley & Sons
Release : 2018-01-24
ISBN : 1119183979
Language : En, Es, Fr & De

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Book Description :

Introduces readers to the state of the art of omics platforms and all aspects of omics approaches for clinical applications This book presents different high throughput omics platforms used to analyze tissue, plasma, and urine. The reader is introduced to state of the art analytical approaches (sample preparation and instrumentation) related to proteomics, peptidomics, transcriptomics, and metabolomics. In addition, the book highlights innovative approaches using bioinformatics, urine miRNAs, and MALDI tissue imaging in the context of clinical applications. Particular emphasis is put on integration of data generated from these different platforms in order to uncover the molecular landscape of diseases. The relevance of each approach to the clinical setting is explained and future applications for patient monitoring or treatment are discussed. Integration of omics Approaches and Systems Biology for Clinical Applications presents an overview of state of the art omics techniques. These methods are employed in order to obtain the comprehensive molecular profile of biological specimens. In addition, computational tools are used for organizing and integrating these multi-source data towards developing molecular models that reflect the pathophysiology of diseases. Investigation of chronic kidney disease (CKD) and bladder cancer are used as test cases. These represent multi-factorial, highly heterogeneous diseases, and are among the most significant health issues in developed countries with a rapidly aging population. The book presents novel insights on CKD and bladder cancer obtained by omics data integration as an example of the application of systems biology in the clinical setting. Describes a range of state of the art omics analytical platforms Covers all aspects of the systems biology approach—from sample preparation to data integration and bioinformatics analysis Contains specific examples of omics methods applied in the investigation of human diseases (Chronic Kidney Disease, Bladder Cancer) Integration of omics Approaches and Systems Biology for Clinical Applications will appeal to a wide spectrum of scientists including biologists, biotechnologists, biochemists, biophysicists, and bioinformaticians working on the different molecular platforms. It is also an excellent text for students interested in these fields.

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders Book
Author : Lee-Jun C. Wong
Publisher : Springer
Release : 2017-05-15
ISBN : 3319564188
Language : En, Es, Fr & De

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Book Description :

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.

Next Generation Sequencing

Next Generation Sequencing Book
Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Release : 2013-05-31
ISBN : 1461470013
Language : En, Es, Fr & De

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Book Description :

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. ​

Game Changer Next Generation Sequencing and Its Impact on Food Microbiology

Game Changer Next Generation Sequencing and Its Impact on Food Microbiology Book
Author : Jennifer Ronholm,Sabah Bidawid,Sandra Torriani
Publisher : Frontiers Media SA
Release : 2018-04-26
ISBN : 2889454630
Language : En, Es, Fr & De

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Book Description :

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.

Chemical Diagnostics

Chemical Diagnostics Book
Author : Nelson L.S. Tang,Terence Poon
Publisher : Springer
Release : 2013-12-17
ISBN : 9783642399411
Language : En, Es, Fr & De

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Book Description :

Next Generation Sequencing: Chemistry, Technology and Applications, by P. Hui Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases, by W. Zhang, H. Cui, L.-J.C. Wong Clinical Applications of the Latest Molecular Diagnostics in Noninvasive Prenatal Diagnosis, by K.C.A. Chan The Role of Protein Structural Analysis in the Next Generation Sequencing Era, by W.W. Yue, D.S. Froese, P.E. Brennan Emerging Applications of Single-Cell Diagnostics, by M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput Clinical Biomarker Assays: Multiple Reaction Monitoring, by C.E. Parker, D. Domanski, A.J. Percy, A.G. Chambers, A.G. Camenzind, D.S. Smith, C.H. Borchers Advances in MALDI Mass Spectrometry in Clinical Diagnostic Applications, by E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases, by W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu

Application of Clinical Bioinformatics

Application of Clinical Bioinformatics Book
Author : Xiangdong Wang,Christian Baumgartner,Denis C. Shields,Hong-Wen Deng,Jacques S Beckmann
Publisher : Springer
Release : 2016-03-31
ISBN : 9401775435
Language : En, Es, Fr & De

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Book Description :

This book elucidates how genetic, biological and medical information can be applied to the development of personalized healthcare, medication and therapies. Focusing on aspects of the development of evidence-based approaches in bioinformatics and computational medicine, including data integration, methodologies, tools and models for clinical and translational medicine, it offers an essential introduction to clinical bioinformatics for clinical researchers and physicians, medical students and teachers, and scientists working with human disease-based omics and bioinformatics. Dr. Xiangdong Wang is a distinguished Professor of Medicine. He is Director of Shanghai Institute of Clinical Bioinformatics, Director of Fudan University Center for Clinical Bioinformatics, Deputy Director of Shanghai Respiratory Research Institute, Director of Biomedical Research Center, Fudan University Zhongshan Hospital, Shanghai, China; Dr. Christian Baumgartner is a Professor of Health Care and Biomedical Engineering at Institute of Health Care Engineering with European Notified Body of Medical Devices, Graz University of Technology, Graz, Austria; Dr. Denis Shields is a Professor of Clinical Bioinformatics at Conway Institute, Belfield, Dublin, Ireland; Dr. Hong-Wen Deng is a Professor at Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, USA; Dr. Jacques S Beckmann is a Professor and Director of Section of Clinical Bioinformatics, Swiss Institute of Bioinformatics, Switzerland.

Next Generation Sequencing in Cancer Research Volume 2

Next Generation Sequencing in Cancer Research  Volume 2 Book
Author : Wei Wu,Hani Choudhry
Publisher : Springer
Release : 2015-04-25
ISBN : 3319158112
Language : En, Es, Fr & De

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Book Description :

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.

HLA TYPING FROM NEXT GENERATIO

HLA TYPING FROM NEXT GENERATIO Book
Author : Yazhi Huang,黄亚志
Publisher : Open Dissertation Press
Release : 2017-01-26
ISBN : 9781361041321
Language : En, Es, Fr & De

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Book Description :

This dissertation, "HLA Typing From Next Generation Sequencing Data: Strategies, Methods, and Applications" by Yazhi, Huang, 黄亚志, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: HLA genes play a key role in the human immune system. As a result, HLA typing is very important for both clinical laboratories and biomedical research. However, HLA typing has always been challenging due to the complexity of this group of genes, including existence of large number of alleles for most HLA genes, major sequence difference between these alleles, sequence similarity among the paralogous HLA genes, and long range linkage disequilibrium (LD) in this region. With the development of NGS, large amount of sequencing data are becoming widely available. Although most of them were not generated for this purpose, they still provide valuable resources for HLA typing. NGS data might be useful in many aspects such as preliminary screening for potential organ donors, for individuals that are potentially susceptible to adverse drug responses, risk prediction for complex diseases, and population genetic studies. However, due to the complexity of the HLA loci, the large amount of NGS data has not been made informative on HLA genotypes. Many efforts have been made on HLA typing by mining NGS data, including the alignment-based method that relies on counting the number of short reads aligned to each specific allele, the assembly- and scoring-based method that takes into account of good quality contigs and their scores for each candidate HLA allele. These methods capitalize on the increasing accessibility and affordability of NGS sequencing and have greatly reduced the time and cost required to make an HLA call comparing to traditional standard PCR-based solutions. Unfortunately, these methods are only capable of achieving low-digit resolution and perform poorly at higher-digit resolution, which is required for clinical applications. In this study, I introduce a novel approach for accurate HLA typing at high-digit resolution based on a strategy of comparing sequence reads to a comprehensive reference panel containing all the known HLA alleles for high efficiency mapping, followed by assembly of the mapped reads to contigs, stepwise matching and designation of the contigs to HLA alleles and decision on HLA allele calling. Testing of the method on a set of public and internal whole exome sequencing (WES) data demonstrated that this new method is capable of reporting HLA alleles at a high-digit resolution with great accuracy. I also conducted a preliminary analysis of WES data from a set of NGS samples generated in-house. HLA calling results demonstrated consistent allele frequencies to those recorded in the Allele Frequency Net Database (AFND) of the same population. In addition, I also used the typing results from the NGS samples to design population-specific primers and probes. Finally, two set of samples with Crohn's disease and tuberculosis were studied using this method. Results showed that the previous findings related to HLA and these diseases were effectively replicated in our dataset using the proposed method. Certain interesting results that were not yet reported were also observed in our dataset. These preliminary results highlighted the potential applications of this method for HLA calling from NGS data. DOI: 10.5353/th_b5736651 Subjects: HLA histocompatibility antigens Nucleotide sequence