Author:
Vandeweyer Geert,Reyniers Edwin,Wuyts Wim,Rooms Liesbeth,Kooy R Frank
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology
Reference48 articles.
1. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C: Detection of large-scale variation in the human genome. Nat Genet 2004, 36(9):949–951. 10.1038/ng1416
2. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al.: Global variation in copy number in the human genome. Nature 2006, 444(7118):444–454. 10.1038/nature05329
3. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, et al.: Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40(10):1166–1174. 10.1038/ng.238
4. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, et al.: Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (New York, NY 2008, 320(5875):539–543. 10.1126/science.1155174
5. Yoo SM, Choi JH, Lee SY, Yoo NC: Applications of DNA microarray in disease diagnostics. Journal of microbiology and biotechnology 2009, 19(7):635–742.
Cited by
50 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献