chapter  16
36 Pages


WithMartin Beaulieu, Dirk van den Boom, Paul Oeth, Mathias Ehrich, Guy del Mistro, Christiane Honisch, and Charles Cantor

For the past two decades, dideoxy DNA sequencing has been the method of choice for DNA sequence analysis (1). This invention has revolutionized the field of biological sciences and greatly facilitates applications like pharmacogenomics. A fluorescence-based version of the method allowed the completion of the human genome and the genomes of many other organisms. The availability of these reference sequences offers new opportunities to investigate genetic diversity within and between species. For example, it is now possible to extract information of human medical value by studying inter-individual variations. Genome-wide individual re-sequencing efforts have spurred the demand for novel high-throughput DNA analysis tools. In recent years, the discovery of single nucleotide polymorphisms (SNPs) as the prevailing type of sequence variation, have allowed the conduction of elaborate genome-wide genetic associations analyses at a fraction of the prior cost. It is believed that SNP genotyping will help reveal disease susceptibility genes and predict adverse reactions to drugs.