Clinical applications of bioinformatics, genomics, and pharmacogenomics

Methods Mol Biol. 2006:316:159-77. doi: 10.1385/1-59259-964-8:159.

Abstract

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 micro-arrays 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.

Publication types

  • Review

MeSH terms

  • Computational Biology / methods*
  • Genomics*
  • Humans
  • Pharmacogenetics*