Introduction:

The term Next-Generation Sequencing (NGS) represents the technologies designed to analyze great amounts of DNA in a massive and parallel fashion. In this review we present the basic concepts of NGS technologies, the considerations for its current use and future perspectives.

Development:

NGS-based tests has revolutionized the study of the genomes as it allows the read of millions of DNA sequences massively and parallelly, in a shorter span of time and at a lesser cost per base. These tests include gene panel sequencing, whole exome sequencing and whole genome sequencing. Result analysis can be complex and requires an exhaustive clinical and bioinformatic process for an adequate interpretation. Among the limitations of NGS testing are the errors in technical aspects such as coverage, depth and read length, as well as its limited usefulness for the detection of structural alterations. These limitations can be approached implementing good laboratory practices.

Conclusions:

NGS tests are diagnostic tools that must be supported by an adequate clinical approach for its reasoned use, correct interpretation and appropriate decision-making. It is of great importance that physicians acquire the basic information to be able to order and interpret these tests given their current relevance.

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