Examining the living genome in health and disease with DNA microarrays.

Within a year we will know virtually the entire sequence of the human genome—the genetic instructions that specify the molecular components, the design, and the operating software for the human body. This knowledge will transform medicine, giving us the means to see and to understand human anatomy, specialization, physiology, and pathophysiology in molecular detail. The genomes of more than 30 frequently studied organisms, including many human pathogens, have already been fully sequenced, and almost half of the sequence of the human genome is currently available in fragmentary form in public databases (NCBI GeneMap at http://www.ncbi.nlm.nih.gov/genemap). Not only will this new knowledge open a molecular window on a largely unexplored world of human biology, but it will also provide a way to see and to understand the molecular scripts that guide normal physiology and development and their alterations in disease. Here we focus on the use of DNA microarrays, or DNA chips as "microscopes," to observe the physiology of the living genome.

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