What is Next Generation Sequencing?

What is Next Generation Sequencing?

Next-generation sequencing (NGS), massively parallel sequencing, or deep sequencing are related terms to describe DNA sequencing technologies that have revolutionized genomic research. Using NGS, the entire human genome can be sequenced in one day. By contrast, the Sanger sequencing technique previously used to decipher the human genome took more than a decade to produce the final sketch. Although NGS has largely replaced traditional Sanger sequencing in genomic research, it has not yet translated into routine clinical practice. The purpose of this article is to review the potential applications of NGS in pediatrics.

Introduce

There are many different NGS platforms using different sequencing technologies, and a detailed discussion of this is beyond the scope of this article. However, all NGS platforms line up millions of small DNA fragments in parallel. Bioinformatics analysis was used to piece these fragments together by mapping individual reads to the human reference genome. Each of the 3 billion bases in the human genome has been sequenced multiple times, providing high depth for precise data and insight into unexpected DNA variations, while NGS can be used to sequence the entire genome or It is limited in a specific sense. Regions of interest, including all 22 000 coding genes (whole exome) or a few individual genes.

Limit

The main disadvantage of NGS in the clinical setting is the establishment of the required infrastructure, such as computer power and storage, and the human expertise required to adequately analyze and interpret subsequent data. In addition, the volume of data needs to be managed cleverly in order to extract clinically important information in a clear, robust interface. The actual sequencing cost of NGS is negligible. For example, a state-of-the-art NGS platform can generate around 1.5 billion readings at a cost of around £1,000, while a single Sanger reading typically costs less than £1. However, for NGS to be cost-effective, a large number of samples must be run, which may require concentration across regions. After the initial capital investment, the ability of NGS facilities to provide services across the country may bring economic benefits in addition to improving patient care.

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