Next Generation Sequencing Technologies In Medical Genetics

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Clinical Applications for Next-Generation Sequencing

Author : Urszula Demkow
Publisher : Academic Press
ISBN 13 : 0128018410
Total Pages : 336 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-10 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 for Next-Generation Sequencing

Author : Urszula Demkow
Publisher : Academic Press
ISBN 13 : 9780128017395
Total Pages : 0 pages
Book Rating : 4.0/5 (173 download)

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Book Synopsis Clinical Applications for Next-Generation Sequencing by : Urszula Demkow

Download or read book Clinical Applications for Next-Generation Sequencing written by Urszula Demkow and published by Academic Press. This book was released on 2015-09-29 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Next Generation Sequencing Technologies in Medical Genetics

Author : C. Alexander Valencia
Publisher : Springer Science & Business Media
ISBN 13 : 1461490324
Total Pages : 101 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Next Generation Sequencing Technologies in Medical Genetics by : C. Alexander Valencia

Download or read book Next Generation Sequencing Technologies in Medical Genetics written by C. Alexander Valencia and published by Springer Science & Business Media. This book was released on 2013-10-16 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Jerzy Kulski
Publisher : BoD – Books on Demand
ISBN 13 : 9535122401
Total Pages : 466 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Next Generation Sequencing by : Jerzy Kulski

Download or read book Next Generation Sequencing written by Jerzy Kulski and published by BoD – Books on Demand. This book was released on 2016-01-14 with total page 466 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Next-Generation Sequencing Data Analysis

Author : Xinkun Wang
Publisher : CRC Press
ISBN 13 : 1482217899
Total Pages : 252 pages
Book Rating : 4.4/5 (822 download)

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Book Synopsis Next-Generation Sequencing Data Analysis by : Xinkun Wang

Download or read book Next-Generation Sequencing Data Analysis written by Xinkun Wang and published by CRC Press. This book was released on 2016-04-06 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Next Generation Sequencing

Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
ISBN 13 : 1461470013
Total Pages : 302 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Next Generation Sequencing by : Lee-Jun C. Wong

Download or read book Next Generation Sequencing written by Lee-Jun C. Wong and published by Springer Science & Business Media. This book was released on 2013-05-31 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 Technologies and Challenges in Sequence Assembly

Author : Sara El-Metwally
Publisher : Springer Science & Business
ISBN 13 : 1493907158
Total Pages : 123 pages
Book Rating : 4.4/5 (939 download)

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Book Synopsis Next Generation Sequencing Technologies and Challenges in Sequence Assembly by : Sara El-Metwally

Download or read book Next Generation Sequencing Technologies and Challenges in Sequence Assembly written by Sara El-Metwally and published by Springer Science & Business. This book was released on 2014-04-19 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt: The introduction of Next Generation Sequencing (NGS) technologies resulted in a major transformation in the way scientists extract genetic information from biological systems, revealing limitless insight about the genome, transcriptome and epigenome of any species. However, with NGS, came its own challenges that require continuous development in the sequencing technologies and bioinformatics analysis of the resultant raw data and assembly of the full length genome and transcriptome. Such developments lead to outstanding improvements of the performance and coverage of sequencing and improved quality for the assembled sequences, nevertheless, challenges such as sequencing errors, expensive processing and memory usage for assembly and sequencer specific errors remains major challenges in the field. This book aims to provide brief overviews the NGS field with special focus on the challenges facing the NGS field, including information on different experimental platforms, assembly algorithms and software tools, assembly error correction approaches and the correlated challenges.

Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Author : Lee-Jun C. Wong
Publisher : Springer
ISBN 13 : 3319564188
Total Pages : 366 pages
Book Rating : 4.3/5 (195 download)

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Book Synopsis Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders by : Lee-Jun C. Wong

Download or read book Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders written by Lee-Jun C. Wong and published by Springer. This book was released on 2017-05-15 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Applications of RNA-Seq and Omics Strategies

Author : Fabio Marchi
Publisher : BoD – Books on Demand
ISBN 13 : 9535135031
Total Pages : 330 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Applications of RNA-Seq and Omics Strategies by : Fabio Marchi

Download or read book Applications of RNA-Seq and Omics Strategies written by Fabio Marchi and published by BoD – Books on Demand. This book was released on 2017-09-13 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Clinical Genomics, Second Edition

Author : Shashikant Kulkarni
Publisher : Academic Press
ISBN 13 : 0323915639
Total Pages : 0 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Clinical Genomics, Second Edition by : Shashikant Kulkarni

Download or read book Clinical Genomics, Second Edition written by Shashikant Kulkarni and published by Academic Press. This book was released on 2023-03-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Genomics, Second Edition provides a full overview of next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. The book presents key bioinformatic challenges and 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. It focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting, with later sections devoted to emerging regulatory issues governing the clinical use of NGS and reimbursement paradigms that will affect the way in which laboratory professionals get compensated for testing. Following the wide use of the current edition by clinicians and researchers alike, this fully revised, new edition addresses the evolving landscape of genomics medicine, along with recent advances in our understanding of molecular mechanisms of human diseases and developmental biology. In addition, the book updates on sequencing chemistry and platforms, bioinformatics algorithms, clinical informatics, IT infrastructure and emerging applications of artificial intelligence in genomics. Simplifies the complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists Instructs in tested practice-based analysis for precision diagnosis and treatment plans, as well as pipelines and meta-analysis for a full range of clinically important variants Provides technical consideration for the validation and implementation of bioinformatics pipelines and related resources in the clinical molecular laboratory Addresses novel sequencing technologies, including long-read sequencing for detecting structural variants and haplotypes Covers cloud computing and Modern IT infrastructure (data storage, security, analytics) for scalable and secure genomics medicine

Next Generation Sequencing and Sequence Assembly

Author : Ali Masoudi-Nejad
Publisher : Springer Science & Business Media
ISBN 13 : 1461477263
Total Pages : 92 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Next Generation Sequencing and Sequence Assembly by : Ali Masoudi-Nejad

Download or read book Next Generation Sequencing and Sequence Assembly written by Ali Masoudi-Nejad and published by Springer Science & Business Media. This book was released on 2013-07-09 with total page 92 pages. Available in PDF, EPUB and Kindle. Book excerpt: The goal of this book is to introduce the biological and technical aspects of next generation sequencing methods, as well as algorithms to assemble these sequences into whole genomes. The book is organized into two parts; part 1 introduces NGS methods and part 2 reviews assembly algorithms and gives a good insight to these methods for readers new to the field. Gathering information, about sequencing and assembly methods together, helps both biologists and computer scientists to get a clear idea about the field. Chapters will include information about new sequencing technologies such as ChIp-seq, ChIp-chip, and De Novo sequence assembly.

Medical and Health Genomics

Author : Dhavendra Kumar
Publisher : Academic Press
ISBN 13 : 0127999221
Total Pages : 360 pages
Book Rating : 4.1/5 (279 download)

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Book Synopsis Medical and Health Genomics by : Dhavendra Kumar

Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Next-Generation Sequencing and Sequence Data Analysis

Author : Kuo Ping Chiu
Publisher : Bentham Science Publishers
ISBN 13 : 1681080923
Total Pages : 160 pages
Book Rating : 4.6/5 (81 download)

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Book Synopsis Next-Generation Sequencing and Sequence Data Analysis by : Kuo Ping Chiu

Download or read book Next-Generation Sequencing and Sequence Data Analysis written by Kuo Ping Chiu and published by Bentham Science Publishers. This book was released on 2015-11-04 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nucleic acid sequencing techniques have enabled researchers to determine the exact order of base pairs - and by extension, the information present - in the genome of living organisms. Consequently, our understanding of this information and its link to genetic expression at molecular and cellular levels has lead to rapid advances in biology, genetics, biotechnology and medicine. Next-Generation Sequencing and Sequence Data Analysis is a brief primer on DNA sequencing techniques and methods used to analyze sequence data. Readers will learn about recent concepts and methods in genomics such as sequence library preparation, cluster generation for PCR technologies, PED sequencing, genome assembly, exome sequencing, transcriptomics and more. This book serves as a textbook for students undertaking courses in bioinformatics and laboratory methods in applied biology. General readers interested in learning about DNA sequencing techniques may also benefit from the simple format of information presented in the book.

Microbial Forensics

Author : Bruce Budowle
Publisher : Academic Press
ISBN 13 : 0123820073
Total Pages : 753 pages
Book Rating : 4.1/5 (238 download)

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Book Synopsis Microbial Forensics by : Bruce Budowle

Download or read book Microbial Forensics written by Bruce Budowle and published by Academic Press. This book was released on 2010-10-27 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. - A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference - New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few - Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease

Next-generation DNA Sequencing Informatics

Author : Stuart M. Brown
Publisher :
ISBN 13 : 9781621821236
Total Pages : 0 pages
Book Rating : 4.8/5 (212 download)

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Book Synopsis Next-generation DNA Sequencing Informatics by : Stuart M. Brown

Download or read book Next-generation DNA Sequencing Informatics written by Stuart M. Brown and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Next-generation DNA sequencing (NGS) technology has revolutionized biomedical research, making complete genome sequencing an affordable and frequently used tool for a wide variety of research applications. This book provides a thorough introduction to the necessary informatics methods and tools for operating NGS instruments and analyzing NGS data"

Next-Generation Genome Sequencing

Author : Michal Janitz
Publisher : John Wiley & Sons
ISBN 13 : 3527644733
Total Pages : 281 pages
Book Rating : 4.5/5 (276 download)

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Book Synopsis Next-Generation Genome Sequencing by : Michal Janitz

Download or read book Next-Generation Genome Sequencing written by Michal Janitz and published by John Wiley & Sons. This book was released on 2011-08-24 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by leading experts from industry and academia, this first single comprehensive resource addresses recent developments in next generation DNA sequencing technology and their impact on genome research, drug discovery and health care. As such, it presents a detailed comparative analysis of commercially available platforms as well as insights into alternative, emerging sequencing techniques. In addition, the book not only covers the principles of DNA sequencing techniques but also social, ethical and commercial aspects, the concept of personalized medicine and a five-year perspective of DNA sequencing.

Clinical Genomics

Author : Shashikant Kulkarni
Publisher : Academic Press
ISBN 13 : 0124051731
Total Pages : 489 pages
Book Rating : 4.1/5 (24 download)

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Book Synopsis Clinical Genomics by : Shashikant Kulkarni

Download or read book Clinical Genomics written by Shashikant Kulkarni and published by Academic Press. This book was released on 2014-11-10 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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