Clinical Applications for Next-Generation Sequencing

Clinical Applications for Next-Generation Sequencing

Author: Urszula Demkow

Publisher: Academic Press

Published: 2015-09-10

Total Pages: 336

ISBN-13: 0128018410

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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


Next Generation Sequencing

Next Generation Sequencing

Author: Jerzy Kulski

Publisher: BoD – Books on Demand

Published: 2016-01-14

Total Pages: 466

ISBN-13: 9535122401

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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 Genome Sequencing

Next-Generation Genome Sequencing

Author: Michal Janitz

Publisher: John Wiley & Sons

Published: 2011-08-24

Total Pages: 281

ISBN-13: 3527644733

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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.


Evolutionary Conservation Genetics

Evolutionary Conservation Genetics

Author: Jacob Höglund

Publisher: Oxford University Press

Published: 2009-03-19

Total Pages:

ISBN-13: 0191550264

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Conservation genetics focuses on understanding the role and requirement of genetic variation for population persistence. However, considerable debate now surrounds the role of genetic factors (as opposed to non-genetic factors such as habitat destruction etc.) in population extinction, and a comprehensive synthesis is now timely. Can extinction be explained by habitat destruction alone or is lack of genetic variation a part of the explanation? The book thoroughly reviews the arguments for a role of genetics in the present biodiversity crisis. It describes the methods used to study genetic variation in endangered species and examines the influence of genetic variation in the extinction of species. To date, conservation genetics has predominantly utilized neutral genetic markers e.g. microsatellites. However, with the recent advances in molecular genetics and genomics it will soon be possible to study 'direct gene action', following the fate of genetic variation at the level of DNA, through expression, to proteins in order to determine how such phenotypes fare in populations of free living organisms. Evolutionary Conservation Genetics explores these exciting avenues of future research potential, integrating ecological quantitative genetics with the new genome science. It is now more important than ever that we ask relevant questions about the evolutionary fate of endangered populations throughout the globe and incorporate our knowledge of evolutionary processes and the distribution of genetic diversity into effective conservation planning and action.


Ancient DNA Typing

Ancient DNA Typing

Author: Susanne Hummel

Publisher: Springer Science & Business Media

Published: 2013-03-09

Total Pages: 320

ISBN-13: 3662050501

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This is the definitive source of information on techniques for the identification and sequencing of old DNA (pieces) and their use in biological and medical research and application. Application of aDNA techniques are useful tools for investigations reaching from evolutionary studies to law enforcement approaches. What brings them together is the interest in specific methods of handling aDNA, i.e. elaborated PCR and sequencing techniques and the interpretation of the results. This books serves as an ideal guideline for it demonstrates how problem-solving strategies can be applied in various areas.


Microbial Technology for the Welfare of Society

Microbial Technology for the Welfare of Society

Author: Pankaj Kumar Arora

Publisher: Springer Nature

Published: 2019-09-12

Total Pages: 341

ISBN-13: 981138844X

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This book describes various aspects of modern microbiology including microbial enzymes, secondary metabolites, next-generation sequencing, microbial-based biopesticides, microbial-based cancer therapies, biodiesel, and microbial products from fermentation, biodegradation, bioremediation and wastewater treatment. Further, it explains how and why microbes play an important role in preserving the welfare of living beings and the environment. Many bacteria play a significant part in cleaning our environment by detoxifying various xenobiotic compounds, while several microbes produce secondary metabolites that are useful to human beings. The book is divided into 15 chapters that cover various aspects of microorganism-based biotechnology, including recent methodologies such as advanced molecular techniques, as well developments in classical microbiological techniques. The authors also explain how the latest and classical techniques are being used in modern-day microbial biotechnology. All chapters were written by experts from prominent universities, research laboratories, and institutes around the globe. Above all, they focus on recent advances in microbial technology that promote the welfare of living beings and the environment.


Applications of DNA Capture in Ancient DNA Research

Applications of DNA Capture in Ancient DNA Research

Author: Alexander Immel

Publisher:

Published: 2020*

Total Pages: 0

ISBN-13:

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Ancient DNA has become an indispensable resource of fundamental research. Especially the combination of DNA capture methods and Next Generation Sequencing (NGS) has allowed to exploit the full potential of ancient DNA. In this dissertation I present three studies which involve capture of ancient DNA to answer different scientific questions. In my first study I bioinformatically reconstruct the mitochondrial genome of the extinct giant deer Megaloceros giganteus after applying mitochondrial DNA capture and sequencing. Using the giant deer's reconstructed mitochondrial genome I then apply phylogenetic analyses that allow to resolve the giant deer's placement within the cervid family tree and reaffirm the fallow deer being its closest extant relative. Mitochondrial DNA capture also provides the basis for the next study, in which I investigate the effects of X-rays on ancient DNA. Different radiation settings are explored including those commonly used in computed tomography (CT) of anthropological and palaeontological specimens. The results allow to define 200 Gray (Gy) as the maximum absorbed X-ray dose which can still be regarded harmless to ancient DNA molecules. No X-radiation induced effects can be observed below this threshold. In my third study I develop and apply capture of 488 human immunity genes in order to compare the immunogenetic makeup of Late Medieval plague (Yersinia pestis) victims and their modern day successors from Ellwangen, Southern Germany. Applying bioinformatic tools allows me to investigate kinship within both populations, determine genetic continuity between past and present, and reconstruct the Human Leukocyte Antigen (HLA) allelic profiles of both populations. While the majority of HLA alleles do not differ in their frequencies, HLA-B51:01 and HLA-DRB113 show significant frequency differences between both populations, potentially indicative of selective pressure through Yersinia pestis.


Next-Generation Sequencing and Sequence Data Analysis

Next-Generation Sequencing and Sequence Data Analysis

Author: Kuo Ping Chiu

Publisher: Bentham Science Publishers

Published: 2015-11-04

Total Pages: 160

ISBN-13: 1681080923

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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.