Pharmacogenomics polymorphism genotyping

Chen, X. and Sullivan, P. F. Single nucleotide polymorphism genotyping Biochemistry, protocol, cost and throughput. Pharmacogenomics Journal 3, 77-96 (2003). 

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

Cancer pharmacogenomics inclndes stndies on biomarkers snch as thiopnrine methyltransferase (TPMT) and epidermal growth factor receptor (EGFR). Research methods snch as germline and tnmor DNA stndies, polymorphism selection, and biomarker screening as well as genotyping systems are described. 

Gunderson KL, Kuhn KM, Steemers FJ et al. Whole-genome genotyping of haplotype tag single nucleotide polymorphisms. Pharmacogenomics 2006 7 641-648. 

The analysis of the predictive role of TS polymorphisms may be more complex if the 6-bp deletion/insertion (del/ins) polymorphism in the 3 UTR is added for consideration. The 6-bp deletion allele may cause mRNA instability and reduce intratumoral TS mRNA levels (32). The improved study design on the pharmacogenetic effect of TS polymorphisms should include a global evaluation of the combined VNTR, G/C, and 6-bp del/ins polymorphisms (33). The same global analysis applies to other genes, especially when the functional polymorphism is unclear. Haplotypes may be more informative than individual genotypes. Haplotype tag SNPs (htSNPs) based on the international HapMap project may represent the next wave of pharmacogenomic studies. 

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