Introduction: Fundamentals of Next-Generation Sequencing, Pattern Recognition, and Biomedical Images
Saurav Mallik, Loveleen Gaur, Soumita Seth, Tapas Bhadra, Mingqiang Wang · River Publishers eBooks · 2024
Next-generation sequencing (NGS) is a technology that identifies the DNA or RNA sequence in order to explore genetic variation linked to diseases or other biological phenomena. This technique, which became initially available for commercial use in 2005, was initially referred to as “massively parallel sequencing” because it enabled many DNA strands to be sequenced simultaneously rather than one at a time as with conventional Sanger sequencing by capillary electrophoresis (CE). In the context of genetic analysis today, each of these tools is useful. Sanger sequencing can be completed in a single day and is excellent for examining small amounts of gene targets and samples. Sanger sequencing is also regarded as the industry-standard sequencing technology; therefore, NGS results are usually validated using it. In addition to allowing for simultaneous investigation of hundreds to thousands of genes across many samples, NGS also allows for the identification and study of a variety of genomic features in a single sequencing run, including single nucleotide variations (SNVs), copy number and structural variants, and even RNA fusions. NGS offers optimal throughput per run, enabling speedy and economical study execution. Additional benefits of NGS over Sanger sequencing include the ability to detect mutations at lower allele frequencies, higher precision, and lesser sample input requirements. Genetic analysis has been transformed by the speed, throughput, and accuracy of NGS, which has also opened up new applications in forensic science, reproductive health, and environmental, agricultural, and clinical research [ 1 ].