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Visualization of genomic aberrations using Affymetrix SNP arrays

机译:使用Affymetrix SNP阵列可视化基因组畸变

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Motivation: DNA copy number aberrations are frequently found in different types of cancer. Recent developments of microarray-based approaches have broadened the knowledge on number and structure of such aberrations. High-density single nucleotide polymorphism (SNP) microarrays provide an extremely high resolution with up to 500 000 SNPs per genome. Owing to the enormous amount of data the detection of common aberrations in large datasets is a great challenge. We describe a novel open source software tool-IdeogramBrowser-which was specifically designed for use with the Affymetrix SNP arrays. It provides an interactive karyotypic visualization of multiple aberration profiles and direct links to GeneCards. Visualization of consensus regions together with gene representation allows the explorative assessment of the data. Availability: IdeogramBrowser and its source code are freely available under a creative commons license and can be obtained from ttp://www.informatik.uni-ulm.dei/staff/HKestler/ideo/. IdeogramBrowser is a platform independent Java application. Contact: hans.kestler@uni-ulm.de
机译:动机:在不同类型的癌症中经常发现DNA拷贝数异常。基于微阵列方法的最新发展拓宽了这种像差的数量和结构的知识。高密度单核苷酸多态性(SNP)微阵列提供了极高的分辨率,每个基因组多达500 000个SNP。由于数据量巨大,因此在大型数据集中检测常见像差是一个巨大的挑战。我们描述了一种新颖的开源软件工具IdeogramBrowser,它是专门为与Affymetrix SNP阵列一起使用而设计的。它提供了多个像差图的交互式核型可视化,并直接链接到GeneCard。共有区域的可视化以及基因表示允许对数据进行探索性评估。可用性:IdeogramBrowser及其源代码在创用CC许可下免费提供,可以从ttp://www.informatik.uni-ulm.dei/staff/HKestler/ideo/获得。 IdeogramBrowser是与平台无关的Java应用程序。联系人:hans.kestler@uni-ulm.de

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