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.

About the Author

Prashanth N Suravajhala is a Professor in the Systems Genomics Lab of the Department of Biosciences at Manipal University Jaipur. He has a PhD in Systems Biology from Aalborg University, Denmark. His group has benchmarked pipelines and developed methods for systems genomic integration. He is an Associate Editor of Frontiers in Genetics/Systems Biology, Bio-Protocol, Biomolecules, and BMC Medical Genomics.

Jeff W Bizzaro has been involved in the field of bioinformatics for more than 25 years and has made significant contributions to the development of bioinformatics software. He is a co-founder of Bioinformatics.org, a professional network that advocates for open science and provides various resources to students and professionals.

"About this title" may belong to another edition of this title.

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