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What is SNPs
        A Single Nucleotide Polymorphism is a source variance in a genome. A SNP (βnip") is a single base mutation in DNA. SNPs are the most simple form and most common source of genetic polymorphism in the human genome (90% of all human DNA polymorphisms).
There are two types of nucleotide base substitutions resulting in SNPs:
  • A transition substitution occurs between purines (A, G) or between pyrimidines (C, T). This type of substitution constitutes two thirds of all SNPs.
  • A transversion substitution occurs between a purine and a pyrimidine.
Sequence Variation
        Sequence variation caused by SNPs can be measured in terms of nucleotide diversity, the ratio of the number of base differences between two genomes over the number of bases compared. This is approximately 1/1000 (1/1350) base pairs between two equivalent chromosomes.

Application:

pharmacogenomics
        All aspects of pharmacogenomics require data from high-throughput genotyping, specifically the target population for a drug or the population of people who react poorly with the drug. Also, this type of research may lead to population specific treatments. The high cost of drug recalls have provided an initiative for advanced drug design involving drug-target validation studies as well as studies to predict adverse events and lack of efficacy.
 
A sample pharmacogenomic experiment may proceed as follows:
  • Define the drug response (phenotype) of interest
  • Accumulate patients/DNA/families
  • Identify candidate genes that might explain significant response variations
  • Identify polymorphisms in candidate genes
  • Relate the identified polymorphism to the phenotype
SNP Diagnostics
        An individual's genotype can be determined and then analysed according to a haplotype map to determine the patient's disease risk or reception to different treatments.
 
SNPs in Functional Proteomics and Gene Therapy
        SNP related functional proteomics involve the identification of functional SNPs that modify proteins and protein active sites structure and function. Functional proteomics is closely tied to modern (post-genomic) drug design and function SNP information helps to discover new therapeutic targets. Most interestingly, by developing a database of the modifications generated by functional (coding) SNPs in disease related proteins, "new compounds can be designed for correcting or enhancing the effects of those mutations in the population." [Source: Genodyssee]
        What are these compounds and how can knowledge of SNP effects be used to correct populations with undesirable SNPs or enhance populations by introducing the advantages of a desirable SNP? Aside from drugs, here are some interesting genomic therapies that may become more feasible as SNP information in the form of trees and maps become more detailed.
 
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Generay’s SnpScan geotyping Service
1. Flexibility of SNP loci
        We can genotype almost all SNPs located in the region which can be successfully PCRed.
2. Promising high callrate of genotyping
        We can promise callrate of each locus be higher than 90%, otherwise, we will not charge any cost on related locus.
3. Low cost benefits all kinds of customers
        We are trying to be the SNP genotyping workshop and provide our customers the best service with a low price based on the resources of China, though we are providing a high-tech service.
        For those customers with small sample sizes (lower than 200 in total), we will charge 3,000RMB on each succeeded locus. However, for customers with larger than 200 samples, we will charge 15RMB for each succeeded reaction.
        Favourable offs will be given to those customers with large sample size.
4. Fast response on demands
        Normally, we can give the results back to you within 3 weeks after your samples and SNP information come to our company. For urgent affairs, we can even provide a super-fast reaction, with a special charge.
5. Rigid secret keeping policy
        Without any permission, no information related to our customer’s demands will be leaked out to a third party.
SnpScan geotying Flow Chat:
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Comparision between Generay’s SnpScan service and other method:
  General method Generay’s method
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