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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
Recent advances in genomics technology has dramatically reduced the cost of genome sequencing. Huge amounts of data is generated by next generation sequencing (NGS) technologies, posing substantial data analysis problems for many life scientists. There is a huge gap in this field for a book that gives practical guidance on these complex methods. This book does just that. It provides practical NGS data analysis techniques for an applied audience with guidance on software and algorithms. It includes lots of examples using real data to illustrate all the techniques. These features and more make it quite possibley the first pratical book on NGS data analysis with practical application.
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 (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.
This volume covers a wide range of various fields of research, with the common thread being Next Generation Sequencing (NGS) related methods and applications, as well as analysis and interpretation of the data obtained. Chapters guide readers through the highly dynamic processes of translational and transcriptional profiling of a cell, method to detect copy number alterations (CNAs), targeted sequencing applications, method called “Hi-Plex” to characterize known polymorphic loci, single-cell of DNA or RNA, identify and characterize rare circulating CD4 T cells, and computational pipeline for RNAseq analysis. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Next Generation Sequencing: Methods and Protocols aims to be useful and informative for further study into this vital field.
Next Generation Sequencing (NGS) Technology in DNA Analysis explains and summarizes next generation sequencing (NGS) technological applications in the field of forensic DNA analysis. The book covers the transition from capillary electrophoresis (CE)-based technique to NGS platforms and the fundamentals of NGS technologies, applications, and advances. Sections provide an overview of NGS technology and forensic science, including information on processing biological samples for forensic analysis, sequence analysis, and data analysis software as well as the analysis of NGS data. The book explores the valuable applications of NGS-based forensic DNA analysis and covers the validations and interpretation guidelines of NGS workflows. With chapter contributions from an international array of experts and the inclusion of practical case studies, this book is a useful reference for academicians and researchers in genetics, biotechnology, bioinformatics, biology, and medicine as well as forensic DNA scientists and practitioners who aim to learn, use, apply, and validate NGS-based technologies. Describes the fundamentals of NGS and its advances for forensic applications Explains the transition from CE-based technique to NGS technology Includes case studies related to NGS and DNA fingerprinting Explores the future use and applications of NGS technologies
"Genetic Genealogy in Practice covers the basic knowledge needed to apply DNA evidence to genealogical questions and then reinforces this foundation with practical applications. Each chapter ends with exercises that include real problems that researchers encounter. Answers allow complex concepts to be reviewed and mastered. As well as covering the basics of DNA testing for family history research problems, Genetic Genealogy in Practice includes discussions of ethical issues, genealogical standards, and tips on how to incorporate genetic evidence into a written conclusion. Researchers of all levels will gain a better understanding of genetic genealogy from this book."--Page [4] of cover.
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