Next-generation Sequencing (NGS) is a technology for determining the sequence of DNA (or RNA converted to cDNA) to study genetic variation associated with biological function or diseases. This technology, introduced for commercial use in 2005, is also called Massively-Parallel Sequencing (MPS), because it enables the sequencing of many DNA strands at the same time, while the Sanger Sequencing method by Capillary Electrophoresis (CE) can only sequence a single DNA fragment at a time. Additional advantages of NGS compared with the Sanger method include lower sample input requirements, higher accuracy, and ability to detect variants at lower allele frequencies.
An NGS workflow typically comprises three major steps, regardless of the instrument technology used:
- Library preparation
- Data analysis