Next Generation Sequencing Technologies In Medical Genetics

Author : C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang
Publisher : Springer Science & Business Media
Page : 94 pages
File Size : 54,5 Mb
Release : 2013-10-16
Category : Medical
ISBN : 9781461490326

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Next Generation Sequencing Technologies in Medical Genetics by C. Alexander Valencia,M. Ali Pervaiz,Ammar Husami,Yaping Qian,Kejian Zhang Pdf

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 : Urszula Demkow,Rafal Ploski
Publisher : Academic Press
Page : 334 pages
File Size : 40,9 Mb
Release : 2015-09-10
Category : Science
ISBN : 9780128018415

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Clinical Applications for Next-Generation Sequencing by Urszula Demkow,Rafal Ploski Pdf

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 : Jerzy Kulski
Publisher : BoD – Books on Demand
Page : 466 pages
File Size : 52,9 Mb
Release : 2016-01-14
Category : Medical
ISBN : 9789535122401

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Next Generation Sequencing by Jerzy Kulski Pdf

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 : Gabriella Pravettoni,Stefano Triberti
Publisher : Springer Nature
Page : 191 pages
File Size : 45,8 Mb
Release : 2019-11-29
Category : Psychology
ISBN : 9783030279943

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P5 eHealth: An Agenda for the Health Technologies of the Future by Gabriella Pravettoni,Stefano Triberti Pdf

This open access volume focuses on the development of a P5 eHealth, or better, a methodological resource for developing the health technologies of the future, based on patients’ personal characteristics and needs as the fundamental guidelines for design. It provides practical guidelines and evidence based examples on how to design, implement, use and elevate new technologies for healthcare to support the management of incurable, chronic conditions. The volume further discusses the criticalities of eHealth, why it is difficult to employ eHealth from an organizational point of view or why patients do not always accept the technology, and how eHealth interventions can be improved in the future. By dealing with the state-of-the-art in eHealth technologies, this volume is of great interest to researchers in the field of physical and mental healthcare, psychologists, stakeholders and policymakers as well as technology developers working in the healthcare sector.

Author : Xinkun Wang
Publisher : CRC Press
Page : 258 pages
File Size : 50,6 Mb
Release : 2016-04-06
Category : Mathematics
ISBN : 9781482217896

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Next-Generation Sequencing Data Analysis by Xinkun Wang Pdf

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 : Sara El-Metwally,Osama M. Ouda,Mohamed Helmy
Publisher : Springer Science & Business
Page : 123 pages
File Size : 54,5 Mb
Release : 2014-04-19
Category : Science
ISBN : 9781493907151

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Next Generation Sequencing Technologies and Challenges in Sequence Assembly by Sara El-Metwally,Osama M. Ouda,Mohamed Helmy Pdf

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.

Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Page : 302 pages
File Size : 46,8 Mb
Release : 2013-05-31
Category : Medical
ISBN : 9781461470014

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Next Generation Sequencing by Lee-Jun C. Wong Pdf

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 : Ali Masoudi-Nejad,Zahra Narimani,Nazanin Hosseinkhan
Publisher : Springer Science & Business Media
Page : 92 pages
File Size : 46,6 Mb
Release : 2013-07-09
Category : Medical
ISBN : 9781461477266

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Next Generation Sequencing and Sequence Assembly by Ali Masoudi-Nejad,Zahra Narimani,Nazanin Hosseinkhan Pdf

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. ​

Author : Michal Janitz
Publisher : John Wiley & Sons
Page : 281 pages
File Size : 44,8 Mb
Release : 2011-08-24
Category : Science
ISBN : 9783527644735

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Next-Generation Genome Sequencing by Michal Janitz Pdf

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.

Author : Kuo Ping Chiu
Publisher : Bentham Science Publishers
Page : 160 pages
File Size : 46,6 Mb
Release : 2015-11-04
Category : Science
ISBN : 9781681080925

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Next-Generation Sequencing and Sequence Data Analysis by Kuo Ping Chiu Pdf

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.

Author : M. Sc Sara El-Metwally,Osama M. Ouda,Mohamed Helmy
Publisher : Unknown
Page : 132 pages
File Size : 54,8 Mb
Release : 2014-05-31
Category : Electronic
ISBN : 1493907166

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Next Generation Sequencing Technologies and Challenges in Sequence Assembly by M. Sc Sara El-Metwally,Osama M. Ouda,Mohamed Helmy Pdf

Author : Sameek Roychowdhury,Eliezer M. Van Allen
Publisher : Springer Nature
Page : 196 pages
File Size : 42,9 Mb
Release : 2020-01-02
Category : Medical
ISBN : 9783030236373

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Precision Cancer Medicine by Sameek Roychowdhury,Eliezer M. Van Allen Pdf

Genomic sequencing technologies have augmented the classification of cancer beyond tissue of origin and towards a molecular taxonomy of cancer. This has created opportunities to guide treatment decisions for individual patients with cancer based on their cancer’s unique molecular characteristics, also known as precision cancer medicine. The purpose of this text will be to describe the contribution and need for multiple disciplines working together to deliver precision cancer medicine. This entails a multi-disciplinary approach across fields including molecular pathology, computational biology, clinical oncology, cancer biology, drug development, genetics, immunology, and bioethics. Thus, we have outlined a current text on each of these fields as they work together to overcome various challenges and create opportunities to deliver precision cancer medicine. As trainees and junior faculty enter their respective fields, this text will provide a framework for understanding the role and responsibility for each specialist to contribute to this team science approach.

Author : Lee-Jun C. Wong
Publisher : Springer
Page : 364 pages
File Size : 54,6 Mb
Release : 2017-05-15
Category : Science
ISBN : 9783319564180

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

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 : Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo
Publisher : BoD – Books on Demand
Page : 330 pages
File Size : 54,7 Mb
Release : 2017-09-13
Category : Medical
ISBN : 9789535135036

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Applications of RNA-Seq and Omics Strategies by Fabio Marchi,Priscila Cirillo,Elvis Cueva Mateo Pdf

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 : Preethi Kartan
Publisher : Delve Publishing
Page : 0 pages
File Size : 49,9 Mb
Release : 2017-11
Category : Bioinformatics
ISBN : 1773611100

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Next Generation Sequencing and Applications by Preethi Kartan Pdf

Billions of spots of tiny genetic code comprise the human genome. It was DNA sequencing technology that had revolutionized genomic research by decoding the valuable genetic information by giving the picture of an exact order of occurrence of nucleotides in a DNA. The inception of first-generation sequencing method, also called Sanger sequencing took place in 1975. The first major breakthrough of first-generation sequencing comes, when the 13 year log Human Genome Project (HGP) was completed in 2003 at a cost $3 million. With ever increasing demands of researchers and clinicians, complex genomic research require a depth of information which is however beyond the capacity of traditional DNA sequencing technologies. These research questions gaps are very well addressed by Next-generation sequencing (NGS) has filled that gap of cheaper as well as faster sequencing technology. It is just a decade old technology, but it has popularize the next-generation sequencing to high-throughput sequencing hat allow millions to trillions of observations to be made in parallel during a single instrument run. Since the introduction of these technologies, the number of applications and methods that influence the power of genome-scale sequencing has increased exponentially. Although in genome research NGS has mostly superseded conventional Sanger sequencing, it has not yet translated into routine clinical practice. The following chapter will highlight the concepts, technologies, and methods of next-generation sequencing to illustrate the breadth and depth of the applications and research areas that are driving progress in genomics.