Communications for Statistical Applications and Methods

The Korean Statistical Society (한국통계학회)
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Comparison of Methods for Detecting and Quantifying Variation in Copy Numbers of Duplicated Genes

  • Jeon, Jin-Tae (Division of Animal Life Science, Gyeongsang National University) ;
  • Ahn, Sung-Jin (Department of Information Statistics, RICIC and RINS, Gyeongsang National University)
  • Received : 20090800
  • Accepted : 20091000
  • Published : 2009.11.30
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Abstract

Copy number variations(CNVs) are known as one of the most important factors in susceptibility to genetic disorders because they affect expression levels of genes. In previous studies, pyrosequencing, mini-sequencing real-time polymerase chain reaction(PCR), invader assays and other techniques have been used to detect CNVs. However, the higher the copy number in a genome, the more difficult it is to resolve the copies, so a more accurate method for measuring CNVs and assigning genotype is needed. PCR followed by a quantitative oligonucleotide ligation assay(qOLA) was developed for quantifying CNVs. The aim of this study was to compare the two methods for detecting and quantifying the CNVs of duplicated gene: the published pyrosequencing assay(pyro_CNV) and the newly developed qOLA_CNV. The accuracy and precision of the assay were evaluated for porcine KIT, which was selected as a model locus. Overall, the root mean squares(RMSs) of bias and standard deviation of qOLA_CNV were 2.09 and 0.45, respectively. These values are less than half of those of pyro CNV.

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