Fundamentos y aplicaciones biomédicas de las principales tecnologías de secuenciación: una revisión de literatura
Biomedical Foundations and Applications of Major Sequencing Technologies: A Literature Review
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Introducción. La secuenciación tiene como finalidad determinar la composición de los nucleótidos presentes en el ADN o ARN. Desde la finalización del proyecto genoma humano, surgieron diversas tecnologías de secuenciación como Roche 454, SOLID, Illumina, Ion torrent, Pacbio y Oxford nanopore como herramientas para secuenciar rápidamente, con mayor precisión y costo-eficiencia, permitiendo el desarrollo de proyectos a gran escala y el estudio de genes y genomas, la composición de microbiomas, enfermedades metabólicas y enfermedades genéticas que afectan la población. Objetivo. Describir los fundamentos de los métodos de secuenciación de ADN y sus aplicaciones en las ciencias biomédicas. Métodos. Revisión descriptiva de las principales estrategias de secuenciación de ADN de primera, segunda y tercera generación y su aplicación en el entorno biomédico. Esta revisión se realizó a partir de la búsqueda de artículos en bases de datos electrónicas especializadas en investigación científica. Se encontraron 118 documentos, de los cuales se excluyeron 6 por no cumplir con los criterios de inclusión y se seleccionaron 112 por cumplir con todos los requisitos. Conclusiones. La secuenciación de ADN y ARN ha permitido avances en los estudios de organismos biológicos, el surgimiento de los métodos de secuenciación de siguiente generación arroja una gran cantidad de datos, incluidos genomas secuenciados completamente de varias especies, con un rendimiento extenso, tiempos reducidos y costo-eficiencia que lleva a la transformación por completo de las ciencias de la vida, logrando un progreso sin precedentes en el análisis de genomas, la evaluación de ecología microbiana y el diagnóstico de enfermedades.
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