The role of bioinformatics in genomic medicine

For more than a century vast progress has been made in genetics and molecular biology. During the last decade newhigh-throughput experimental techniques have rapidly emerged. The automation of DNA sequencing has set the stage for the Human Genome Project in 1990 (Collins et al., 1998), which has led to genomics (the branch of genetics that studies organisms in terms of their full DNA sequences) and a range of related disciplines such as transcriptomics (the study of the complete gene expression state), proteomics (the study of the full set of proteins encoded by a genome), and metabolomics (the study of comprehensive metabolite profiles). In the remainder of this chapter these domains will all be referred to as genomics. Genomics has greatly accelerated fundamental research in molecular biology as it enables the measurement of molecular processes globally and from different points of view. This led to a range of applications in the biomedical sector and increasingly affects patient care (Collins et al., 2003; Subramanian et al., 2001; van Ommen, 2002).