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Aplicaciones de la bioinformática en la medicina: el genoma humano. ¿Cómo podemos ver tanto detalle?
Bioinformatics Applications in Medicine: The Human Genome. How Can We See Such Detail?
DOI:
https://doi.org/10.15446/abc.v21n1Supl.51233Palabras clave:
e, bioinformática, genoma humano, genómica personalizada, secuenciamiento. (es)bioinformatics, human genome, personalized genomics, sequencing (en)
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La bioinformática es un campo novedoso que soporta parte de la investigación biológica dirigida a la identificación de variantes génicas que pueden ser descubiertas desde los estudios de genomas completos. Basados en esta motivación se presenta el panorama general de los aportes principales de la bioinformática en el desarrollo del secuenciamiento del primer genoma humano. Adicionalmente se resumen los principales avances en cómputo desarrollados para responder a las demandas requeridas por los métodos de secuenciamiento de última generación para lograr re-secuenciar un genoma humano. Finalmente se introducen algunos de los nuevos retos que deben asumirse para aplicar la genómica personalizada en el desarrollo de la medicina.
Bioinformatics is a new field that supports part of the biological research aimed at identifying gene variants that can be discovered from studies of whole genomes. Based on this motivation the overview of the main contributions of bioinformatics in the development of sequencing the first human genome is presented. Additionally it is summarized the main advances in computing developed to meet the demands to re-sequence a human genome by using the next generation sequencing technologies. Finally some new challenges that must be faced to apply the personalized genomics into the medicine development are introduced.
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