Next-Generation Sequencing and Molecular Diagnostics PDF Download

Author: Dimitrios H. Roukos
Publisher:
ISBN: 9781780841885
Category : Medical
Languages : en
Pages :

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Author: Urszula Demkow
Publisher: Academic Press
ISBN: 0128018410
Category : Science
Languages : en
Pages : 336

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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

Author: Xinkun Wang
Publisher: CRC Press
ISBN: 1482217899
Category : Mathematics
Languages : en
Pages : 252

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Book Description
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: George P. Patrinos
Publisher: Academic Press
ISBN: 0128029889
Category : Medical
Languages : en
Pages : 520

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Book Description
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
Publisher: Springer Science & Business Media
ISBN: 1461490324
Category : Medical
Languages : en
Pages : 101

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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.​

Author: Wayne W. Grody
Publisher: Academic Press
ISBN: 0080919049
Category : Medical
Languages : en
Pages : 518

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Book Description
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 Science & Business Media
ISBN: 1461470013
Category : Medical
Languages : en
Pages : 302

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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. ​

Author: Lee-Jun C. Wong
Publisher: Springer
ISBN: 3319564188
Category : Science
Languages : en
Pages : 364

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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.

Author: M.M. Bui
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318065765
Category : Medical
Languages : en
Pages : 120

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Book Description
In the era of precision medicine, physicians are increasingly in need of more definitive diagnostic, prognostic, and predictive information derived from small biopsy specimens such as cytology samples in order to guide effective patient care. Cytopathology is well poised to meet this challenge. Whilst the traditional cytomorphologic component of cytology practice is still valid, enormous advances have been made in the field of cytopathology thanks to transformative technology and innovative individuals that have augmented the cytologists' ability to meet the demands of modern medicine. The purpose of this book is to describe, illustrate, and review many of the most recent developments regarding modern techniques employed in cytopathology. This latest monograph is intended for all cytologists including cytopathologists, cytotechnologists, cytology lab assistants, trainees, research scientists, and anyone who is interested in the field of cytopathology. We have invited pioneering experts in their respective fields to author these chapters. This book is not only the culmination of their groundbreaking work and effort but also presents a critical review of the current literature. We have attempted to provide readers with an informative and comprehensive aid so that they may better appreciate how emerging technology has been applied to cytology. Each chapter in this book presents a stand-alone contemporary review of emerging topics in cytopathology. We hope that you will find this monograph thought-provoking and a valuable reference for your practice.

Author: Noam Shomron
Publisher: Humana Press
ISBN: 9781627035132
Category : Science
Languages : en
Pages : 0

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Book Description
The new genetic revolution is fuelled by Deep Sequencing (or Next Generation Sequencing) apparatuses which, in essence, read billions of nucleotides per reaction. Effectively, when carefully planned, any experimental question which can be translated into reading nucleic acids can be applied.In Deep Sequencing Data Analysis, expert researchers in the field detail methods which are now commonly used to study the multi-facet deep sequencing data field. These included techniques for compressing of data generated, Chromatin Immunoprecipitation (ChIP-seq), and various approaches for the identification of sequence variants. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of necessary materials and reagents, step-by-step, readily reproducible protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Deep Sequencing Data Analysis seeks to aid scientists in the further understanding of key data analysis procedures for deep sequencing data interpretation.