Genómica Funcional: En busca de la función de los genes

FERNÁNDEZ, ELMER ANDRÉS; ALVAREZ, MARIANO J.; PODHAJCER, OSVALDO LUIS; STOLOVITZKY, GUSTAVO

Actas de la academia nacional de ciencias

Pugliese siena SH

Lugar: Cordoba; Año: 2007 p. 63 - 76

0325-7533

The sequencing efforts of the past decade have not only allowed us to gain knowledge of the genomes of hundreds of organisms –including the human genome– but have also expanded the horizons of scientific research. The logical next step after having collected the list of genes from all those genomes is to discover how these genes work in their cellular environment. As a response to this challenge, new technologies such as DNA microarrays, mass-spectrometry and fluorescent microscopy, to name a few, have been developed to study gene activity under a variety of cellular conditions. The grand-total of these new technologies along with the information-technology methodology that makes possible the analysis and interpretation of the massive amount of data that ensued, has given rise to a new sub-discipline known as functional genomics. Perhaps the most mature among the technologies used in functional genomics is that of DNA microarrays, which allow us to simultaneously measure the activity of thousands of genes. In this tutorial article we discuss the design of these devices, the challenges associated to normalization and noise-reduction that render a more precise measurement of gene expression levels, and the most popular statistical methodologies used in the data analysis. As an outcome of these efforts in functional genomics, important medical applications such as disease diagnostics, stratification of clinical cohorts and drug toxicology, among others, are now foreseeable in the near future.