NeuroCure Clinical Research Center, Berlin, Germany.
J Med Genet. 2013 Aug;50(8):529-33. doi: 10.1136/jmedgenet-2012-101497. Epub 2013 May 31.
Many genetic disorders are caused by copy number variations (CNVs) in the human genome. However, the large number of benign CNV polymorphisms makes it difficult to delineate causative variants for a certain disease phenotype. Hence, we set out to create software that accumulates and visualises locus-specific knowledge and enables clinicians to study their own CNVs in the context of known polymorphisms and disease variants.
CNV data from healthy cohorts (Database of Genomic Variants) and from disease-related databases (DECIPHER) were integrated into a joint resource. Data are presented in an interactive web-based application that allows inspection, evaluation and filtering of CNVs in single individuals or in entire cohorts.
CNVinspector provides simple interfaces to upload CNV data, compare them with own or published control data and visualise the results in graphical interfaces. Beyond choosing control data from different public studies, platforms and methods, dedicated filter options allow the detection of CNVs that are either enriched in patients or depleted in controls. Alternatively, a search can be restricted to those CNVs that appear in individuals of similar clinical phenotype. For each gene of interest within a CNV, we provide a link to NCBI, ENSEMBL and the GeneDistiller search engine to browse for potential disease-associated genes.
With its user-friendly handling, the integration of control data and the filtering options, CNVinspector will facilitate the daily work of clinical geneticists and accelerate the delineation of new syndromes and gene functions. CNVinspector is freely accessible under http://www.cnvinspector.org.
许多遗传疾病是由人类基因组中的拷贝数变异（CNV）引起的。然而，大量良性 CNV 多态性使得难以确定导致特定疾病表型的变异。因此，我们着手创建一种软件，该软件可以积累和可视化特定基因座的知识，并使临床医生能够在已知多态性和疾病变异的背景下研究自己的 CNV。
将来自健康队列（基因组变异数据库）和疾病相关数据库（DECIPHER）的 CNV 数据整合到一个联合资源中。数据以交互式网络应用程序的形式呈现，允许在单个个体或整个队列中检查、评估和过滤 CNV。
CNVinspector 提供了简单的接口来上传 CNV 数据，将其与自己或已发表的对照数据进行比较，并在图形界面中可视化结果。除了从不同的公共研究、平台和方法中选择对照数据外，专用过滤选项还允许检测到在患者中富集或在对照中耗尽的 CNV。或者，可以将搜索范围限制在具有相似临床表型的个体中出现的那些 CNV。对于 CNV 内的每个感兴趣基因，我们提供了到 NCBI、ENSEMBL 和 GeneDistiller 搜索引擎的链接，以浏览潜在的与疾病相关的基因。
CNVinspector 的用户友好处理、对照数据的集成和过滤选项将有助于临床遗传学家的日常工作，并加速新综合征和基因功能的划定。CNVinspector 可在 http://www.cnvinspector.org 免费访问。
