Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies.

@article{Chorley2008DiscoveryAV,
  title={Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies.},
  author={Brian N. Chorley and Xuting Wang and Michelle R. Campbell and Gary S. Pittman and Maher A. Noureddine and Douglas A. Bell},
  journal={Mutation research},
  year={2008},
  volume={659 1-2},
  pages={
          147-57
        }
}
The most common form of genetic variation, single nucleotide polymorphisms or SNPs, can affect the way an individual responds to the environment and modify disease risk. Although most of the millions of SNPs have little or no effect on gene regulation and protein activity, there are many circumstances where base changes can have deleterious effects. Non-synonymous SNPs that result in amino acid changes in proteins have been studied because of their obvious impact on protein activity. It is well… CONTINUE READING

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