Next Generation Sequencing

This cutting-edge reference book compiles standard operating procedures, protocols, and applications of next-generation sequencing (NGS). It discusses genomic testing applications through NGS. It pays special focus on the protocols for cataloguing variants of uncertain significance. Over the years, NGS and advanced bioinformatics approaches have allowed the transition of genomic assays into translational practices. The book covers visualisation of NGS datasets, investigation of early development impairment, and metagenome protocols. It also discusses the challenges in NGS methods. Key Points: Includes case studies of application of NGS in different taxa like humans, rodents, plants, and bacteria Compiles protocols from various reputed companies like Illumina, PacBio, and ThermoFisher Discusses the translational applications of NGS methods Reviews machine learning heuristics for NGS data interpretation Discusses emerging genomic assay technologies and characterising mechanisms of disease prevalence The book is meant for researchers and industry experts in genomics, computational biology, and bioinformatics. Chapter 7 and 9 of this book is freely available as a downloadable Open Access PDF at under a Creative Commons [Attribution-Non Commercial-No Derivatives (CC BY-NC-ND)] 4.0 license.

High-throughput, next generation sequencing (NGS) technologies are capable of producing a huge amount of sequence data in a relatively short time and have revolutionized genome research in recent years. The powerful and flexible nature of NGS has made it an indispensable tool for a broad spectrum of biological sciences, and NGS technologies have transformed scientific research in many fields. Written by experts from around the world, this book explores the most recent advances in NGS instrumentation and data analysis. The book begins with a comprehensive description of current NGS platforms, their sequencing chemistries, instrument specifications, and general workflows and procedures. A separate chapter is dedicated to low-quantity, single molecule sequencing technology. Further chapters explore the application of NGS technologies in various fields, including polymorphism detection, sRNA research, rare variant detection, large variant detection, exome sequencing, plant development studies, microbial metagenomics, and studies on the human microbiome. Practical and cutting-edge, this volume will assist all scientists who wish to apply these innovative research tools.