Clinical Applications of Bioinformatics, Genomics, and Pharmacogenomics

Elucidation of the entire human genomic sequence is one of the greatest achievements of science. Understanding the functional role of 30,000 human genes and more than 2 million polymorphisms was possible through a multidisciplinary approach using microarrays and bioinformatics. Polymorphisms, variations in DNA sequences, occur in 1% of the population, and a vast majority of them are single nucleotide polymorphisms. Genotype analysis has identified genes important in thrombosis, cardiac defects, and risk of cardiac disease. Many of the genes show a significant correlation with polymorphisms and the incidence of coronary artery disease and heart failure. In this chapter, the application of current state-of-the-art genomic analysis to a variety of these disorders is reviewed.