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 http://www.taylorfrancis.com under a Creative Commons [Attribution-Non Commercial-No Derivatives (CC BY-NC-ND)] 4.0 license.