Tecnologías de secuenciación de nueva generación: principios, aplicaciones y escenario en Costa Rica
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Solano Vargas, Mariela
Molina Mora, José Arturo
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Abstract
La secuenciación de nueva generación (NGS, por sus siglas en inglés) corresponde a un grupo de tecnologías originadas a mediados de la década del 2000 por la necesidad de mejorar la capacidad de procesamiento y reducción de costos de secuenciación del ADN, primordialmente demandada luego de la publicación del primer borrador del genoma humano. En las NGS, la paralelización de la secuenciación permitió mejorar los tiempos de corrida de forma drástica, a mucho menor costo y con mucha más información y generación de nuevas líneas de trabajo en diversidad de contextos médico-biológicos. Sin embargo, el desarrollo de esta tecnología trae inherente el conocimiento de la bioinformática como elemento clave para el procesamiento de la información, tanto a nivel de las secuencias como de la información que se extrae. Por tanto, diversidad de retos y oportunidades se han planteado con la introducción de las NGS, mismos que no son ajenos a la realidad de Costa Rica. El presente trabajo pretende mostrar los principales conceptos involucrados en la utilización de tecnologías de secuenciación de nueva generación, sus aplicaciones y plataformas disponibles en el mercado, así como los aspectos relacionados con la bioinformática y la gran cantidad de oportunidades y limitaciones vinculadas con estas tecnologías. Además, se detallan aspectos del escenario costarricense, el cual cuenta con la plataforma Ilumina en diversos centros académicos y de salud, todos involucrados en proyectos o servicios a disponer para la población.
New Generation Sequencing (NGS) involves a group of technologies originated in the mid-2000s due to the need to improve the processing capacity and cost reduction of DNA sequencing, mainly after the publication of the human genome. In the NGS, parallelization of the sequencing allows the laboratories to improve the run times drastically, at a much lower cost and with much more information and generation of new lines of work in diverse medical and biological contexts. However, the development of this technology brings inherent (comes hand in hand with the) knowledge of bionformatics as a key element for data processing, both at the level of the sequences and the information that is extracted from it. Therefore, a diversity of challenges and opportunities have arisen with the introduction of the NGS, which are also part of the context of Costa Rica.The aim of this work is to show the main concepts involved in the use of new generation sequencing technologies, their applications and available platforms, as well as the aspects related to bioinformatics and the great number of opportunities and limitations associated with these technologies. In addition, aspects of the Costa Rican scenario are detailed, which has the Illumina sequencing platforms in various academic and healthcare centers, all of them involved in research projects and patient testing services for the population.
New Generation Sequencing (NGS) involves a group of technologies originated in the mid-2000s due to the need to improve the processing capacity and cost reduction of DNA sequencing, mainly after the publication of the human genome. In the NGS, parallelization of the sequencing allows the laboratories to improve the run times drastically, at a much lower cost and with much more information and generation of new lines of work in diverse medical and biological contexts. However, the development of this technology brings inherent (comes hand in hand with the) knowledge of bionformatics as a key element for data processing, both at the level of the sequences and the information that is extracted from it. Therefore, a diversity of challenges and opportunities have arisen with the introduction of the NGS, which are also part of the context of Costa Rica.The aim of this work is to show the main concepts involved in the use of new generation sequencing technologies, their applications and available platforms, as well as the aspects related to bioinformatics and the great number of opportunities and limitations associated with these technologies. In addition, aspects of the Costa Rican scenario are detailed, which has the Illumina sequencing platforms in various academic and healthcare centers, all of them involved in research projects and patient testing services for the population.
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Keywords
Secuenciación de ADN, NGS, Bioinformática, DNA Sequencing, Bioinformatics
Citation
http://revista.microbiologos.cr/articulo-anterior/