Copy Number Variations

Copy Number Variations (CNVs) are gaining popularity in genetic studies as methods are emerging for extracting CNV data from standard SNP genotyping arrays, and some new chips contain non-polymorphic probes specifically intended for CNV detection.

BC|CNV Module

The BC|CNV Module is an additional module to our BC|SNPmax solutions, designed for the Data Management and Analysis of Copy-number variation data

The module allows for storing and handling of two different CNV data types: raw probe data containing signal intensities from which the actual copy numbers can be inferred, and segmental CNV calls. The module includes an interface for PennCNV (1) for making CNV calls from raw signal intensity files, and PLINK (2) for summarizing the segmental data and performing case-control analysis. Additionally, the results can be visualized in the UCSC Genome Browser (3).

For more information, download the BC|CNV brochure.

References

(1) PennCNV
(2) Purcell S. et al. 2007, PLINK: a tool set for whole-genome association and population-based linkage analysis, American Journal of Human Genetics 81:559-75
(3) UCSC Genome Browser