Copy number variations (CNVs) identified in Korean individuals = 한국인에서 발굴한 DNA copy 수 변이

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Title
Copy number variations (CNVs) identified in Korean individuals = 한국인에서 발굴한 DNA copy 수 변이
Author(s)
Tae Wook Kang; Yeo-Jin Jeon; E Jang; Hee Jin Kim; Jeong Hwan KimJong Lyul Park; S Lee; Yong Sung Kim; J Y Kim; Seon-Young Kim
Bibliographic Citation
BMC Genomics, vol. 9, pp. 492-492
Publication Year
2008
Abstract
Background: Copy number variations (CNVs) are deletions, insertions, duplications, and more complex variations ranging from 1 kb to sub-microscopic sizes. Recent advances in array technologies have enabled researchers to identify a number of CNVs from normal individuals. However, the identification of new CNVs has not yet reached saturation, and more CNVs from diverse populations remain to be discovered. Results: We identified 65 copy number variation regions (CNVRs) in 116 normal Korean individuals by analyzing Affymetrix 250 K Nsp whole-genome SNP data. Ten of these CNVRs were novel and not present in the Database of Genomic Variants (DGV). To increase the specificity of CNV detection, three algorithms, CNAG, dChip and GEMCA, were applied to the data set, and only those regions recognized at least by two algorithms were identified as CNVs. Most CNVRs identified in the Korean population were rare (<1%), occurring just once among the 116 individuals. When CNVs from the Korean population were compared with CNVs from the three HapMap ethnic groups, African, European, and Asian; our Korean population showed the highest degree of overlap with the Asian population, as expected. However, the overlap was less than 40%, implying that more CNVs remain to be discovered from the Asian population as well as from other populations. Genes in the novel CNVRs from the Korean population were enriched for genes involved in regulation and development processes. Conclusion: CNVs are recently-recognized structural variations among individuals, and more CNVs need to be identified from diverse populations. Until now, CNVs from Asian populations have been studied less than those from European or American populations. In this regard, our study of CNVs from the Korean population will contribute to the full cataloguing of structural variation among diverse human populations.
ISSN
1471-2164
Publisher
Springer-BMC
DOI
http://dx.doi.org/10.1186/1471-2164-9-492
Type
Article
Appears in Collections:
Aging Convergence Research Center > 1. Journal Articles
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