Bioinformatics, pharmacogenomics,

As pharmacogenetics and pharmacogenomics are not mutually exclusive, but even sometimes display overlapping features, both disciplines are aimed at better tailoring medical therapy for a given complex disease such as essential hypertension or other CVD. In the wake of new technologies to identify candidate region for whatever phenotype, more robust and complex bioinformatic analyses are necessary to... 

Information flowing from the Human Genome Project is having major influences in fields such as proteomics, bioinformatics, biotechnology, and pharmacogenomics as well as all areas of biology and medicine. 

Yan Q (2008) The integration of personalized and systems medicine bioinformatics support for pharmacogenomics and drug discovery. Methods Mol Biol 448 1-19... 

Another application of bioinformatics is the use of pharmacogenomics. There are some diseases, such as sickle cell anemia (Exhibit 2.3), in which the difference of one amino acid group can have drastic consequences. These differences in nucleotides are termed single nucleotide polymorphisms (SNPs). SNPs, whether due to genetic origins or environmental factors, translate to individual differences. By understanding these SNPs using bioinformatics, more individualized medicines with better efficacy and less adverse effects can be prescribed. 

Keywords Bioinformatics database disease dmg function genotype interaction pathway pharmacogenomics phenotype single-nucleotide polymorphism (SNP) software stmcture systems biology. 

Handling such interwoven networks and complex feedback loops is beyond the capability of common laboratory methods, not to mention that just the complexity of scientific literature itself is already beyond measure. Help from computers and bioinformatics has become a must in today s biomedical research. In fact, bioinformatics methods have become indispensable for each step in biomedical research, from high-throughput data collection to clinical decision support. This chapter focuses on the application of bioinformatics methods in the study of pharmacogenomics, drug discovery, and systems biology. 

As shown in Fig. 1.1, bioinformatics approaches in pharmacogenomics are conducted systematically. The lowest level in the system is at the molecular level. At this level, it is necessary to understand the detailed features of a gene and the relationship between genetic structure and function (see Subheading 1.2.1). These detailed features include sequence analytic information such as sequence retrieval and comparison, sequence variation information such as about single-nucleotide polymorphisms (SNPs), and sequence patterns that can correlate sequence structure to functional motifs. 

In the following, the application of bioinformatics methods in pharmacogenomics studies is described at different levels of study to enable a relatively holistic understanding. 

Table 1.1 Bioinformatics sources for pharmacogenomics research at the molecular level... 

Fig. 1.2 The workflow of commonly used bioinformatics analyses in pharmacogenomics and systems biology... 

Table 1.5 Bioinformatics sources for pharmacogenomics research of protein-drug interactions... 

With the advancement of pharmacogenomics and systems biology research, more databases and tools should be available for various diseases. The application of these bioinformatics methods should assist us in having a more profound understanding of diseases at different levels and lead us to both individualized and systems medicine. 

Schmitz, G. et al. (2001). Pharmacogenomics implications for laboratory medicine. Clin. Chim. Acta 308(1-2), 43-53. Searls, D. (2000). Using bioinformatics in gene and drug discovery. Drug Discovery Today 5(4), 135-143. 

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