Open-access Caracterización de las tecnologías de secuenciación genética de segunda y tercera generación

Characterization of second- and third-generation genomic sequencing technologies

Abstract

The progress in genetic material sequencing enhanced diverse research opportunities related to genomics, transcriptomics and other -omics areas. A need in the development of more accessible and efficient techniques resulted in the second- (NGS) and third-generation technologies (TGS). In this paper we aimed to characterize the main sequencing methods of second- and third-generation. NGS technology is based on the sequencing by biosynthesis of short fragments with high quality and precision, while TGS are specialized in long fragment sequencing by nanopores and single-molecule, real-time technologies. Illumina and PacBio have more precise and high-quality data, compared to Oxford Nanopore Technologies (ONT). However, nanopores long reads address errors in genome assembly, commonly associated with small lectures. All analyzed technologies have production-scale sequencers, but only ONT and Illumina developed benchtop products. ONT also presents portable sequencers for small projects. Latinoamerican countries have less coverage and technical support of sequencing technologies, and only Illumina is sited in this region. Each sequencing technology have advantages and limitations regarding their techniques and their coupled use is promoted to make a deeper analysis of the data, therefore the development of new bioinformatics programs remain as one of the principal obstacles to overcome to enhance the application of these technologies.

Keywords Illumina; Oxford Nanopore; PacBio; sequencing platforms; bioinformatics

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Instituto Tecnológico de Costa Rica Cartago, Costa Rica, Cartago, Cartago, Costa Rica, CR, 159-7050 , 25502336, 25525354 - E-mail: alramirez@itcr.ac.cr
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