Download Full eBooks in PDF
Next Generation Sequencing And Molecular Diagnostics Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Next Generation Sequencing And Molecular Diagnostics book. This book definitely worth reading, it is an incredibly well-written.
Author : Dimitrios H. Roukos
Publisher : Unknown
Page : 128 pages
File Size : 55,9 Mb
Release : 2013-02-01
Category : Medical
ISBN : 1780841884
Author : George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Publisher : Academic Press
Page : 520 pages
File Size : 48,6 Mb
Release : 2016-10-27
Category : Medical
ISBN : 9780128029886
Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field
Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer Science & Business Media
Page : 101 pages
File Size : 52,9 Mb
Release : 2013-10-16
Category : Medical
ISBN : 9781461490326
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.
Author : Xinkun Wang
Publisher : CRC Press
Page : 258 pages
File Size : 55,5 Mb
Release : 2016-04-06
Category : Mathematics
ISBN : 9781482217896
A Practical Guide to the Highly Dynamic Area of Massively Parallel SequencingThe development of genome and transcriptome sequencing technologies has led to a paradigm shift in life science research and disease diagnosis and prevention. Scientists are now able to see how human diseases and phenotypic changes are connected to DNA mutation, polymorphi
Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Page : 302 pages
File Size : 40,6 Mb
Release : 2013-05-31
Category : Medical
ISBN : 9781461470014
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.
Author : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Page : 334 pages
File Size : 43,5 Mb
Release : 2015-09-10
Category : Science
ISBN : 9780128018415
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
Author : Wayne W. Grody,Robert M. Nakamura,Frederick L. Kiechle,Charles Strom
Publisher : Academic Press
Page : 736 pages
File Size : 43,7 Mb
Release : 2009-11-06
Category : Science
ISBN : 0080919049
Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. Molecular Diagnostics provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting. Serves as the definitivereference for molecular pathologists worldwide Covers a variety of molecular techniques including next generation sequencing, tumor somatic cell genotyping, infectious and genetic disease tecting, and pharmacogenetics Discusses in the detail issues concerning quality assurance, regulation, ethics, and future directions for the science
Author : Lee-Jun C. Wong
Publisher : Springer
Page : 364 pages
File Size : 41,8 Mb
Release : 2017-05-15
Category : Science
ISBN : 9783319564180
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.
Author : Anton A. Buzdin,Ira Ida Skvortsova,Xinmin Li,Ye Wang
Publisher : Frontiers Media SA
Page : 180 pages
File Size : 53,7 Mb
Release : 2021-03-09
Category : Science
ISBN : 9782889665754
Dr. Anton Buzdin (AB) is employed by Omicsway Corp. (USA). AB received grants from Amazon and Microsoft Azure to support cloud computations. Dr. Xinmin Li is director of JCCC Shared Genomics Resource, the University of California, Los Angeles, CA Dr. Ye Wang is Director of Gene testing Department (Core Lab) of Qingdao Central Hospital, the Second Affiliated Hospital of Qingdao University
Author : Jacob Moran-Gilad,Yael Yagel
Publisher : Springer Nature
Page : 240 pages
File Size : 45,6 Mb
Release : 2021-05-24
Category : Science
ISBN : 9783030621551
Various “omics” methods have recently revolutionized molecular diagnostics. Next-generation sequencing (NGS) makes it possible to sequence a human genome in just one day. Whole genome sequencing (WGS) greatly improves the ability to investigate the outbreaks of numerous pathogens. Metagenomics helps to analyze the microbiome, which aids greatly in identifying the pathogenesis of infectious diseases. Proteomic-based methods, namely matrix-assisted laser desorption-ionization time of flight mass spectrometry (MALDI-TOF-MS), have a promising role in identifying myctobacteria and fungi, and predicting antimicrobial resistance. While there are numerous scientific publications on “omics” applications for microbiology, there are relatively few books that review this topic from a clinical diagnostics perspective. This book looks at this field from a holistic viewpoint, instead of limiting by type of “omics” technology, in order to cover the body of knowledge needed for practitioners and academics interested in clinical and public health microbiology. Additionally, it addresses the management, economical, regulatory and operational aspects of integrating these technologies into routine diagnostics.
Author : Jerzy Kulski
Publisher : BoD – Books on Demand
Page : 466 pages
File Size : 41,8 Mb
Release : 2016-01-14
Category : Medical
ISBN : 9789535122401
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.
Author : Shiyang Pan,Jinhai Tang
Publisher : Springer Nature
Page : 889 pages
File Size : 45,7 Mb
Release : 2021-07-08
Category : Medical
ISBN : 9789811610370
This book covers the discovery of molecular biomarkers, the development of laboratory testing techniques and their clinical applications, focusing on basic research to clinical practice. It introduces new and crucial knowledge and ethics of clinical molecular diagnosis. This book emphasizes the applications of clinical molecular diagnostic test on health management, especially from different diseased organs. It lets readers to understand and realize precision healthcare.
Author : Nelson L.S. Tang,Terence Poon
Publisher : Springer
Page : 204 pages
File Size : 51,9 Mb
Release : 2013-12-06
Category : Science
ISBN : 9783642399428
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
Author : Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo
Publisher : BoD – Books on Demand
Page : 330 pages
File Size : 50,5 Mb
Release : 2017-09-13
Category : Medical
ISBN : 9789535135036
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.
Author : Kamla Kant Shukla,Praveen Sharma,Sanjeev Misra
Publisher : Springer
Page : 341 pages
File Size : 46,8 Mb
Release : 2019-03-15
Category : Medical
ISBN : 9789811358777
This book aims to bring together a broad variety of examples of the role of pharmacogenomics in current drug development, uncovering dynamic concentration-dependent drug responses on biological systems to understand pharmacodynamics responses in human cancer where genetic lesions serve as tumor markers and provide a basis for cancer diagnosis. The book describes methods and protocols applied in molecular diagnostics. It offers pathologists and researchers providing molecular diagnostic services an array of the most recent and readily accessible reference to compare methods and techniques. Highlights include the molecular diagnosis of genetic aberrations by quantitative polymerase reaction (qPCR), sequence-specific oligonucleotide arrays, next-generation sequencing (NGS), CGH arrays-and methodologies directed at the detection of epigenetic events, high-throughput nucleic acid and protein arrays, direct sequencing and FISH-based methodologies, currently used in the diagnosis of solid tumors. The book also includes an innovative line of treatment in relation to the molecular prognosis, diagnosis and pharmacogenomics in the actual practice of clinical findings at molecular levels. The book covers the applications of numerous genetic testing methodologies; in approximately the chronological order of discovery and high-throughput diagnosis using advanced genomic approaches to identify such genes, in the search for novel drug targets and/or key determinants of drug reactions. It also promotes a wider understanding of molecular diagnostics among physicians, medical students, and scientists in academics, industry and corporate world.