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Comparison of the Affymetrix SNP Array 5.0 and Oligoarray Platforms for Defining CNV
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  • Comparison of the Affymetrix SNP Array 5.0 and Oligoarray Platforms for Defining CNV
  • Comparison of the Affymetrix SNP Array 5.0 and Oligoarray Platforms for Defining CNV
저자명
Kim. Ji-Hong,Jung. Seung-Hyun,Hu. Hae-Jin,Yim. Seon-Hee,Chung. Yeun-Jun
간행물명
Genomics & informatics
권/호정보
2010년|8권 3호|pp.138-141 (4 pages)
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한국유전체학회
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정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Together with single nucleotide polymorphism (SNP), copy number variations (CNV) are recognized to be the major component of human genetic diversity and used as a genetic marker in many disease association studies. Affymetrix Genome-wide SNP 5.0 is one of the commonly used SNP array platforms for SNP-GWAS as well as CNV analysis. However, there has been no report that validated the accuracy and reproducibility of CNVs identified by Affymetrix SNP array 5.0. In this study, we compared the characteristics of CNVs from the same set of genomic DNAs detected by three different array platforms; Affymetrix SNP array 5.0, Agilent 2X244K CNV array and NimbleGen 2.1M CNV array. In our analysis, Affymetrix SNP array 5.0 seems to detect CNVs in a reliable manner, which can be applied for association studies. However, for the purpose of defining CNVs in detail, Affymetrix Genome-wide SNP 5.0 might be relatively less ideal than NimbleGen 2.1M CNV array and Agilent 2X244K CNV array, which outperform Affymetrix array for defining the small-sized single copy variants. This result will help researchers to select a suitable array platform for CNV analysis.