Clinical Applications for Next Generation Sequencing

Author: Urszula Demkow
Publisher: Academic Press
ISBN: 0128018410
Format: PDF, ePub
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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

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Author: Lee-Jun C. Wong
Publisher: Springer
ISBN: 3319564188
Format: PDF, ePub, Mobi
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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.

Next Generation Sequencing in Cancer Research

Author: Wei Wu
Publisher: Springer Science & Business Media
ISBN: 1461476453
Format: PDF, Mobi
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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

Author: Lee-Jun C. Wong
Publisher: Springer Science & Business Media
ISBN: 1461470013
Format: PDF, ePub, Docs
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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. ​

Chemical Diagnostics

Author: Nelson L.S. Tang
Publisher: Springer
ISBN: 3642399428
Format: PDF, ePub, Mobi
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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

Der Experimentator Molekularbiologie Genomics

Author: Cornel Mülhardt
Publisher: Springer-Verlag
ISBN: 3642346367
Format: PDF, ePub
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Dieses Buch enthält das Grundlagenwissen sowie Tipps und Tricks für den Umgang mit Nucleinsäuren. Der Autor kennt Lust und Frust der täglichen Laborroutine ganz genau. Präparieren, Fällen, Konzentrieren und Reinigen von Nucleinsäuren Restriktionsenzyme, Gele, Blotten Polymerase-Kettenreaktion RNA-Isolierung, -Transkription Klonierung von DNA-Fragmenten Markierung von Sonden, Hybridisierung, Screening, Sequenzierung Mutagenese, In-vitro-Translation, transgene Mäuse, Transgenexpression, Gentherapie, Genomik Dieses Buch richtet sich an alle Experimentatoren, die molekularbiologische Versuche durchführen wollen und gern nachvollziehen möchten, was sich in ihrem Reaktionsgefäß abspielt. Das ganze Spektrum der üblichen molekularbiologischen Methoden wird vorgestellt, kommentiert und Alternativen aufgezeigt. Der lockere Ton wendet sich gleichermaßen an Studenten wie an BTAs und Laboranten, aber auch der alte Hase wird hier und dort noch etwas Neues entdecken. Die 7. Auflage wurde überarbeitet und aktualisiert.

Integration of Omics Approaches and Systems Biology for Clinical Applications

Author: Antonia Vlahou
Publisher: John Wiley & Sons
ISBN: 1119183960
Format: PDF, Mobi
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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 in Cancer Research Volume 2

Author: Wei Wu
Publisher: Springer
ISBN: 3319158112
Format: PDF, Docs
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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 Technologies in Medical Genetics

Author: C. Alexander Valencia
Publisher: Springer Science & Business Media
ISBN: 1461490324
Format: PDF, Docs
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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.​