What is next generation sequencing?
Next-generation sequencing (NGS), massively parallel, or deep sequencing are related terms that describe DNA sequencing technologies that have revolutionized genomic research. The entire human genome can be sequenced in one day using NGS. By contrast, the Sanger sequencing technique previously used to decipher the human genome took more than a decade to provide a final draft. Although NGS has largely replaced traditional Sanger sequencing in genomic research, it has not yet been 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 sequence millions of small fragments of DNA in parallel. Bioinformatics analysis was used to piece together these fragments 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 to provide accurate data and insight into unexpected DNA variations, and NGS can be used to sequence the entire genome or limit it to specific senses. Regions of interest, including all 22 000 coding genes (whole exome) or a small number of individual genes.
Limit
The main disadvantage of NGS in the clinical setting is the establishment of the required infrastructure, such as computer capacity and storage, and the human expertise required to fully 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 150000000 readings at a cost of around £1000, 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. Following the initial capital investment, the ability of NGS facilities to provide services across the country may provide economic benefits in addition to improved patient care.
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