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A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.

Publication ,  Journal Article
Lin, C-H; Lin, Y-C; Wu, J-Y; Pan, W-H; Chen, Y-T; Fann, CSJ
Published in: Genomics
October 2009

Copy number variation (CNV) is a form of DNA sequence variation in the human genome. CNVs can affect expression of nearby and distant genes, and some of them might cause certain phenotypic differences. CNVs vary slightly in location and frequency among different populations. Because currently-available CNV information from Asian population was limited to fewer small-scale studies with only dozens of subjects, a high-resolution CNV survey was conducted using a large number of Han Chinese in this study. The Illumina HumanMap550K single-nucleotide polymorphism array was used to identify CNVs from 813 unrelated Han Chinese residing in Taiwan. A total of 365 CNV regions were identified in this population, and the average size of the CNV regions was 235 kb (covering a total of 2.86% of the human genome), and 67 (18.4%) were newly-discovered CNV regions. Two hundred and seventy-nine CNV regions (76%) were verified from 304 randomly-selected samples by Affymetrix 500K GeneChip and qPCR experiments. These regions contain 1029 genes, some of which are associated with diseases. Consistent with previous studies, most CNVs were rare structural variations in the human genome, and only 64 regions (17.5%) had a CNV allele frequency greater than 1%. Our discovery of 67 new CNV regions indicates that previous CNV coverage of the human genome is incomplete and there is diversity among different ethnic populations. The comprehensive knowledge of CNVs in the human genome is very important and useful in further genetic studies.

Duke Scholars

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Published In

Genomics

DOI

EISSN

1089-8646

Publication Date

October 2009

Volume

94

Issue

4

Start / End Page

241 / 246

Location

United States

Related Subject Headings

  • Taiwan
  • Polymorphism, Single Nucleotide
  • Phylogeny
  • Oligonucleotide Array Sequence Analysis
  • MicroRNAs
  • Humans
  • Genome-Wide Association Study
  • Genome, Human
  • Genetics, Population
  • Genetics & Heredity
 

Citation

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Lin, C.-H., Lin, Y.-C., Wu, J.-Y., Pan, W.-H., Chen, Y.-T., & Fann, C. S. J. (2009). A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Genomics, 94(4), 241–246. https://doi.org/10.1016/j.ygeno.2009.06.004
Lin, Chien-Hsing, Ying-Chao Lin, Jer-Yuarn Wu, Wen-Harn Pan, Yuan-Tsong Chen, and Cathy S. J. Fann. “A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.Genomics 94, no. 4 (October 2009): 241–46. https://doi.org/10.1016/j.ygeno.2009.06.004.
Lin C-H, Lin Y-C, Wu J-Y, Pan W-H, Chen Y-T, Fann CSJ. A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Genomics. 2009 Oct;94(4):241–6.
Lin, Chien-Hsing, et al. “A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.Genomics, vol. 94, no. 4, Oct. 2009, pp. 241–46. Pubmed, doi:10.1016/j.ygeno.2009.06.004.
Lin C-H, Lin Y-C, Wu J-Y, Pan W-H, Chen Y-T, Fann CSJ. A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Genomics. 2009 Oct;94(4):241–246.
Journal cover image

Published In

Genomics

DOI

EISSN

1089-8646

Publication Date

October 2009

Volume

94

Issue

4

Start / End Page

241 / 246

Location

United States

Related Subject Headings

  • Taiwan
  • Polymorphism, Single Nucleotide
  • Phylogeny
  • Oligonucleotide Array Sequence Analysis
  • MicroRNAs
  • Humans
  • Genome-Wide Association Study
  • Genome, Human
  • Genetics, Population
  • Genetics & Heredity