Data derived from Affymetrix and Illumina SNP genotyping arrays is being analysed for CNVs. The primary analysis is conducted using vendor-provided software, third-party software and software coded in-house.
Affymetrix Power Tools
Illumina Genome Studio
Datasets of several hundred Gigabyte are converted to a custom binary format to allow for a dramatic increase in the efficacy of data processing. For visualization of the results an institute-specific screening tool, the R package CNVineta, has been developed. Taqman CNV assays are used to technically replicate the results of the previous analyses.