Abstract
DNA sequencing has led to the discovery of point mutations in DNA sequences that result in mutated, faulty proteins, problematic promoter signals, and genetic variations that have been determined to be the basis of genetic diseases and the basis for human identification. Traditional Sanger sequencing is limited to sequencing relatively short stretches of DNA (hundreds to approximately a thousand nucleotides) at a time. Pyrosequencing is a valuable tool for detecting point mutations and epigenetic patterns but also is limited in the length of sequence it can process in an experiment. In many ways, next-generation sequencing (NGS) has revolutionized DNA profiling. NGS methods have enabled the sequencing of whole genomes of organisms or large targeted portions of genomes in a single experiment. NGS has been employed for both human and non-human applications. This chapter will highlight examples of the breadth of DNA profiling applications including screening and identifying biological specimens for cases of human identification in forensic investigations, parentage testing, characterization of the microbiome of human body regions and body fluids, determining the molecular genetics of inherited and rare diseases for clinical diagnosis, determining sequence variants in cancer, plant biology, pathogen surveillance, infectious disease monitoring, enabling environmental studies of uncultured microbes using metagenomics, geolocation, archeology, studies of human genetic change and adaptation, and human genealogy research.
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Elkins, K.M., Berry, H.E., Reese, K.R. (2022). Applications of NGS in DNA Analysis. In: Dash, H.R., Shrivastava, P., Lorente, J.A. (eds) Handbook of DNA Profiling. Springer, Singapore. https://doi.org/10.1007/978-981-16-4318-7_19
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DOI: https://doi.org/10.1007/978-981-16-4318-7_19
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