next generation sequencing translation to clinical diagnostics

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Next Generation Sequencing

Author : Lee-Jun C. Wong
ISBN : 9781461470014
Genre : Medical
File Size : 67. 1 MB
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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 Based Clinical Molecular Diagnosis Of Human Genetic Disorders

Author : Lee-Jun C. Wong
ISBN : 9783319564180
Genre : Science
File Size : 85. 15 MB
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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.

Clinical Genomics

Author : Shashikant Kulkarni
ISBN : 9780124051737
Genre : Science
File Size : 87. 30 MB
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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

Advances In Clinical Chemistry

Author :
ISBN : 9780128153994
Genre : Science
File Size : 57. 58 MB
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Advances in Clinical Chemistry, Volume 83, the latest installment in this internationally acclaimed series, contains chapters authored by world-renowned clinical laboratory scientists, physicians and research scientists. The serial discusses the latest, most up-to-date technologies related to the field of clinical chemistry, with this release presenting comprehensive updates on Urinary Nucleosides and Deoxynucleosides, Locked Nucleic Acid Technology for Highly Sensitive Detection of Somatic Mutations in Cancer, Liquid Biopsy: From Basic Research to Clinical Practice, Circulating Tumor Cells and Implications of the Epithelial-to-Mesenchymal Transition, and more. Provides the most up-to-date technologies in clinical chemistry and clinical laboratory science Authored by world renowned clinical laboratory scientists, physicians and research scientists Presents the international benchmark for novel analytical approaches in the clinical laboratory

Translating Molecular Biomarkers Into Clinical Assays

Author : Russell Weiner
ISBN : 9783319407937
Genre : Medical
File Size : 22. 72 MB
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This handbook covers established and advanced techniques for biomarker analysis, such as guidelines and strategies for assay validation methods; different mathematical models that are necessary in contemporary drug discovery and development; and evaluation of new cytometry methods. Expertly curated by two practicing professionals in drug development and biotherapeutics, individual chapters are selected for novel and sound research; information is chosen based on its relevance to lab applications and clinical trials, such as the topic of selecting animal models for their relevancy to humans. The book is multifaceted, discussing the ethics and issues with biospecimens and providing an in-depth analysis to the differences between pre-clinical and clinical assay development. The book is an essential read for general readers who need an introduction to the history and background of biomarkers, and it also provides critical analyses of various new validation methods for practitioners and researchers.

Clinical Applications For Next Generation Sequencing

Author : Urszula Demkow
ISBN : 9780128018415
Genre : Science
File Size : 35. 88 MB
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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

Targeted Next Generation Sequencing In Monogenic Dyslipidemias

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ISBN : OCLC:1016957232
Genre :
File Size : 77. 60 MB
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Abstract : Purpose of review: To evaluate the potential clinical translation of high-throughput next-generation sequencing (NGS) methods in diagnosis and management of dyslipidemia. Recent findings: Recent NGS experiments indicate that most causative genes for monogenic dyslipidemias are already known. Thus, monogenic dyslipidemias can now be diagnosed using targeted NGS. Targeting of dyslipidemia genes can be achieved by either: designing custom reagents for a dyslipidemia-specific NGS panel; or performing genome-wide NGS and focusing on genes of interest. Advantages of the former approach are lower cost and limited potential to detect incidental pathogenic variants unrelated to dyslipidemia. However, the latter approach is more flexible because masking criteria can be altered as knowledge advances, with no need for re-design of reagents or follow-up sequencing runs. Also, the cost of genome-wide analysis is decreasing and ethical concerns can likely be mitigated. DNA-based diagnosis is already part of the clinical diagnostic algorithms for familial hypercholesterolemia. Furthermore, DNA-based diagnosis is supplanting traditional biochemical methods to diagnose chylomicronemia caused by deficiency of lipoprotein lipase or its co-factors. Summary: The increasing availability and decreasing cost of clinical NGS for dyslipidemia means that its potential benefits can now be evaluated on a larger scale.

Next Generation Sequencing And Molecular Diagnostics

Author : Dimitrios H. Roukos
ISBN : 1780841884
Genre : Medical
File Size : 27. 53 MB
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Next Generation Sequencing Technologies In Medical Genetics

Author : C. Alexander Valencia
ISBN : 9781461490326
Genre : Medical
File Size : 83. 61 MB
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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 In Cancer Research

Author : Wei Wu
ISBN : 9781461476450
Genre : Medical
File Size : 39. 34 MB
Format : PDF
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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.

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