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A Penalized Spline Based Method for Detecting the DNA Copy Number Alteration in an Array-CGH Experiment
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  • A Penalized Spline Based Method for Detecting the DNA Copy Number Alteration in an Array-CGH Experiment
  • A Penalized Spline Based Method for Detecting the DNA Copy Number Alteration in an Array-CGH Experiment
저자명
Kim. Byung-Soo,Kim. Sang-Cheol
간행물명
응용통계연구
권/호정보
2009년|22권 1호|pp.115-127 (13 pages)
발행정보
한국통계학회
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정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

The purpose of statistical analyses of array-CGH experiment data is to divide the whole genome into regions of equal copy number, to quantify the copy number in each region and finally to evaluate its significance of being different from two. Several statistical procedures have been proposed which include the circular binary segmentation, and a Gaussian based local regression for detecting break points (GLAD) by estimating a piecewise constant function. We propose in this note a penalized spline regression and its simultaneous confidence band(SCB) approach to evaluate the statistical significance of regions of genetic gain/loss. The region of which the simultaneous confidence band stays above 0 or below 0 can be considered as a region of genetic gain or loss. We compare the performance of the SCB procedure with GLAD and hidden Markov model approaches through a simulation study in which the data were generated from AR(1) and AR(2) models to reflect spatial dependence of the array-CGH data in addition to the independence model. We found that the SCB method is more sensitive in detecting the low level copy number alterations.