Next-generation DNA Sequencing Informatics

Next-generation DNA Sequencing Informatics

Author: Stuart M. Brown

Publisher:

Published: 2015

Total Pages: 0

ISBN-13: 9781621821236

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"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 Sequencing Data Analysis

Next-Generation Sequencing Data Analysis

Author: Xinkun Wang

Publisher: CRC Press

Published: 2016-04-06

Total Pages: 252

ISBN-13: 1482217899

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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


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.


Evaluation Methods in Medical Informatics

Evaluation Methods in Medical Informatics

Author: Charles P. Friedman

Publisher: Springer Science & Business Media

Published: 2013-03-14

Total Pages: 301

ISBN-13: 1475726856

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As director of a training program in medical informatics, I have found that one of the most frequent inquiries from graduate students is, "Although I am happy with my research focus and the work I have done, how can I design and carry out a practical evaluation that proves the value of my contribution?" Informatics is a multifaceted, interdisciplinary field with research that ranges from theoretical developments to projects that are highly applied and intended for near-term use in clinical settings. The implications of "proving" a research claim accordingly vary greatly depending on the details of an individual student's goals and thesis state ment. Furthermore, the dissertation work leading up to an evaluation plan is often so time-consuming and arduous that attempting the "perfect" evaluation is fre quently seen as impractical or as diverting students from central programming or implementation issues that are their primary areas of interest. They often ask what compromises are possible so they can provide persuasive data in support of their claims without adding another two to three years to their graduate student life. Our students clearly needed help in dealing more effectively with such dilem mas, and it was therefore fortuitous when, in the autumn of 1991, we welcomed two superb visiting professors to our laboratories.


Microbial Forensics

Microbial Forensics

Author: Bruce Budowle

Publisher: Academic Press

Published: 2010-10-27

Total Pages: 753

ISBN-13: 0123820073

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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


Genome Sequencing Technology and Algorithms

Genome Sequencing Technology and Algorithms

Author: Sun Kim

Publisher: Artech House Publishers

Published: 2008

Total Pages: 288

ISBN-13:

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The 2003 completion of the Human Genome Project was just one step in the evolution of DNA sequencing. This trailblazing work gives researchers unparalleled access to state-of-the-art DNA sequencing technologies, new algorithmic sequence assembly techniques, and emerging methods for both resequencing and genome analysis.


Big Data Analysis for Bioinformatics and Biomedical Discoveries

Big Data Analysis for Bioinformatics and Biomedical Discoveries

Author: Shui Qing Ye

Publisher: CRC Press

Published: 2016-01-13

Total Pages: 286

ISBN-13: 149872454X

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Demystifies Biomedical and Biological Big Data AnalysesBig Data Analysis for Bioinformatics and Biomedical Discoveries provides a practical guide to the nuts and bolts of Big Data, enabling you to quickly and effectively harness the power of Big Data to make groundbreaking biological discoveries, carry out translational medical research, and implem


Clinical Genomics

Clinical Genomics

Author: Shashikant Kulkarni

Publisher: Academic Press

Published: 2014-11-10

Total Pages: 489

ISBN-13: 0124051731

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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