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Allele frequency determination of publicly available cSNPs in the Korean population
Seong-Gene Lee1, Yongsook Yoon, Sunghee Hong
1Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea.
Purpose:
As a first step toward the construction of a single-nucleotide polymorphism (SNP) database of the Korean population, the authors determined the allele frequencies of 406 cSNPs selected from the public database.
Methods:
A pooled DNA sequencing approach was used to determine the allele frequencies of 406 cSNPs selected from 120 genes in 24 individuals.
Results:
Of 406 cSNPs, 53% were monomorphic in the Korean samples. Among tested SNPs, 292 SNPs (72%) were uncommon (minor allele < 20%) and 114 SNPs (28%) were common (minor allele > or = 20%) in our population.
Conclusion:
An extensive SNP characterization would be necessary, and the ethnic and population-based differences should be considered in the selection of SNPs for the study of complex diseases with association mapping methods.
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Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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