Title: Statistical issues in the analysis of DNA Copy Number Variations

Authors: Nathan E. Wineinger, Richard E. Kennedy, Stephen W. Erickson, Mary K. Wojczynski, Carl E. Bruder, Hemant K. Tiwari

Addresses: Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. ' Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. ' Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. ' Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. ' Viral Biochemistry, Division of Drug Discovery, Southern Research Institute, Birmingham, Alabama 35205, USA. ' Section on Statistical Genetics, Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA

Abstract: Approaches to assess copy number variation have advanced rapidly and are being incorporated into genetic studies. While the technology exists for CNV genotyping, a further understanding and discussion of how to use the CNV data for association analyses is warranted. We present the options available for processing and analysing CNV data. We break these steps down into choice of genotyping platform, normalisation of the array data, calling algorithm, and statistical analysis.

Keywords: DNA copy number; copy number variations; CNV genotyping; normalisation; array CGH; calling algorithm; CBS; circular binary segmentation; hidden Markov model; whole genome amplification; microarrays; GWAS; genome-wide association study; complex disorders; association analysis; statistical analysis.

DOI: 10.1504/IJCBDD.2008.022208

International Journal of Computational Biology and Drug Design, 2008 Vol.1 No.4, pp.368 - 395

Published online: 22 Dec 2008 *

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