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. 2011 Jan 5:12:4.
doi: 10.1186/1471-2105-12-4.

CNV-WebStore: online CNV analysis, storage and interpretation

Geert Vandeweyer  1 , Edwin Reyniers, Wim Wuyts, Liesbeth Rooms, R Frank Kooy
Affiliations

CNV-WebStore: online CNV analysis, storage and interpretation

Geert Vandeweyer et al. BMC Bioinformatics. .

Abstract

Background: Microarray technology allows the analysis of genomic aberrations at an ever increasing resolution, making functional interpretation of these vast amounts of data the main bottleneck in routine implementation of high resolution array platforms, and emphasising the need for a centralised and easy to use CNV data management and interpretation system.

Results: We present CNV-WebStore, an online platform to streamline the processing and downstream interpretation of microarray data in a clinical context, tailored towards but not limited to the Illumina BeadArray platform. Provided analysis tools include CNV analsyis, parent of origin and uniparental disomy detection. Interpretation tools include data visualisation, gene prioritisation, automated PubMed searching, linking data to several genome browsers and annotation of CNVs based on several public databases. Finally a module is provided for uniform reporting of results.

Conclusion: CNV-WebStore is able to present copy number data in an intuitive way to both lab technicians and clinicians, making it a useful tool in daily clinical practice.

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Figures

Figure 1
Figure 1
Platform structure overview of CNV-WebStore.
Figure 2
Figure 2
Analysis pipeline implemented in CNV-WebStore for Illumina BeadArray data.
Figure 3
Figure 3
Overview of 8779 copy number variations detected in 192 HapMap Samples. On the left axis, the number of deletions per sample are shown as light bars, duplications as dark bars. On the right axis the percentage of aberrations in the bin, containing genes is shown. A) Classified by coverage. B) Classified by aberration size.
Figure 4
Figure 4
Graphical representation of CNV-annotation by CNV-WebStore. General color codes are green for duplication and purple for deletion events. OMIM information for genes is indicated by blue or red (MORBID) color.
Figure 5
Figure 5
Context Information presentation. A single tooltip allows access to parental data (on top), clinical information and public resources (middle) and visual examination plots (bottom).
See this image and copyright information in PMC

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