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Comparison of Normalization Methods for Defining Copy Number Variation Using Whole-genome SNP Genotyping Data
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  • Comparison of Normalization Methods for Defining Copy Number Variation Using Whole-genome SNP Genotyping Data
  • Comparison of Normalization Methods for Defining Copy Number Variation Using Whole-genome SNP Genotyping Data
저자명
Kim. Ji-Hong,Yim. Seon-Hee,Jeong. Yong-Bok,Jung. Seong-Hyun,Xu. Hai-Dong,Shin. Seung-Hun,Chung. Yeun-Jun
간행물명
Genomics & informatics
권/호정보
2008년|6권 4호|pp.231-234 (4 pages)
발행정보
한국유전체학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Precise and reliable identification of CNV is still important to fully understand the effect of CNV on genetic diversity and background of complex diseases. SNP marker has been used frequently to detect CNVs, but the analysis of SNP chip data for identifying CNV has not been well established. We compared various normalization methods for CNV analysis and suggest optimal normalization procedure for reliable CNV call. Four normal Koreans and NA10851 HapMap male samples were genotyped using Affymetrix Genome-Wide Human SNP array 5.0. We evaluated the effect of median and quantile normalization to find the optimal normalization for CNV detection based on SNP array data. We also explored the effect of Robust Multichip Average (RMA) background correction for each normalization process. In total, the following 4 combinations of normalization were tried: 1) Median normalization without RMA background correction, 2) Quantile normalization without RMA background correction, 3) Median normalization with RMA background correction, and 4) Quantile normalization with RMA background correction. CNV was called using SW-ARRAY algorithm. We applied 4 different combinations of normalization and compared the effect using intensity ratio profile, box plot, and MA plot. When we applied median and quantile normalizations without RMA background correction, both methods showed similar normalization effect and the final CNV calls were also similar in terms of number and size. In both median and quantile normalizations, RMA backgroundcorrection resulted in widening the range of intensity ratio distribution, which may suggest that RMA background correction may help to detect more CNVs compared to no correction.