CNV-WebStore: Online CNV Analysis, Storage and Interpretation

BMC Bioinformatics

Software

Liesbeth Rooms¹  Geert Vandeweyer¹  R Frank Kooy¹  Edwin Reyniers²  Wim Wuyts³ 

[1] Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium;Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium;University Hospital Antwerp, Antwerp, Belgium;University Hospital Antwerp, Antwerp, Belgium;

关键词: Hide Markov Model;    Copy Number Variation;    Uniparental Disomy;    Copy Number Variation Region;    HapMap Sample;   

DOI  :  10.1186/1471-2105-12-4

 received in 2010-08-18, accepted in 2011-01-05,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundMicroarray 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.ResultsWe 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.ConclusionCNV-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.

【 授权许可】

Unknown   
© Vandeweyer et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.