What is next generation sequencing?

Abstract

Next generation sequencing (NGS), massively parallel or deep sequencing are related terms that describe a DNA sequencing technology which has revolutionised genomic research. Using NGS an entire human genome can be sequenced within a single day. In contrast, the previous Sanger sequencing technology, used to decipher the human genome, required over a decade to deliver the final draft. Although in genome research NGS has mostly superseded conventional Sanger sequencing, it has not yet translated into routine clinical practice. The aim of this article is to review the potential applications of NGS in paediatrics.

Keywords: Basic Science; Technology.

Figure 1

Example of next generation sequencing (NGS) raw data-BRAF V600E mutation in melanoma. The mutation was found by our group in 2002 as part of several year-long efforts to define somatic mutations in human cancer using Sanger sequencing, prior to the advent of NGS.