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Comparison of Methods for Detecting and Quantifying Variation in Copy Numbers of Duplicated Genes
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  • Comparison of Methods for Detecting and Quantifying Variation in Copy Numbers of Duplicated Genes
  • Comparison of Methods for Detecting and Quantifying Variation in Copy Numbers of Duplicated Genes
저자명
Jeon. Jin-Tae,Ahn. Sung-Jin
간행물명
한국통계학회 논문집
권/호정보
2009년|16권 6호|pp.1037-1046 (10 pages)
발행정보
한국통계학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

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.