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.

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

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 (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 in Forensic Science: A Primer addresses next generation sequencing (NGS) specific to its application to forensic science. The first part of the book offers a history of human identity approaches, including VNTR, RFLP, STR, and SNP DNA typing. It discusses the history of sequencing for human DNA typing, including Sanger sequencing, SNaPshot, pyrosequencing, and principles of next generation sequencing. The chapters present an overview of the forensically focused AmpliSeq, ForenSeq, Precision ID, PowerSeq, and QIAseq panels for human DNA typing using autosomal, Y and X chromosome STRs and SNPs using the MiSeq FGx and Ion Torrent System. The authors outline the steps included in DNA extraction and DNA quantitation that are performed prior to preparing libraries with the NGS kits. The second half of the book details the implementation of ForenSeq and Precision ID to amplify and tag targets to create the library, enrich targets to attach indexes and adaptors, perform library purification and normalization, pool the libraries, and load samples to the cartridge to perform the sequencing on the instrument. Coverage addresses the operation of the MiSeq FGx and Ion Chef, including creating a sample list, executing wash steps, performing NGS, understanding the run feedback files from the instrument, and troubleshooting. ForenSeq and Precision ID panel data analysis are explained, including how to analyze and interpret NGS data and output graphs and charts. The book concludes with mitochondrial DNA (mtDNA) sequencing and SNPs analysis, including the issue of heteroplasmy. The final chapters review forensic applications of microbial DNA, NGS in body fluid analysis, and challenges and considerations for future applications. FEATURES Focuses on human identification using traditional and NGS DNA typing methods targeting short tandem repeats (STRs) Applies the technology and its application to law enforcement investigations and identity and ancestry single nucleotide polymorphisms (SNPs) for investigational leads, mass disaster, and ancestry cases Presents the underlying principles of NGS in a clear, easy-to-understand format for practitioners and students studying DNA in forensic programs This is the first book to prepare practitioners to utilize and implement this new technology in their lab for casework, highlighting early applications of how NGS results have been used in court. The book can be utilized for upper-level undergraduate and graduate students taking courses focused on NGS concepts. Readers are expected to have a basic understanding of molecular and cellular biology and DNA typing.

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.

"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"