Statistical issues in the analysis of DNA Copy Number Variations.
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.
Wineinger
Nathan E
NE
Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA. nwineing@uab.edu
Kennedy
Richard E
RE
Erickson
Stephen W
SW
Wojczynski
Mary K
MK
Bruder
Carl E
CE
Tiwari
Hemant K
HK
D000465:Algorithms; D000818:Animals; D056808:Biostatistics / Q000379:methods; D055028:Comparative Genomic Hybridization / Q000379:methods; D004247:DNA / Q000737:chemistry / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D016045:Human Genome Project; D006801:Humans; D008957:Models, Genetic; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D012016:Reference Values; D014714:Vertebrates / Q000235:genetics
D004247:DNA