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Original article
CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts
  1. Ellen Knierim1,2,
  2. Jana Marie Schwarz1,2,
  3. Markus Schuelke1,2,
  4. Dominik Seelow1,2
  1. 1NeuroCure Clinical Research Center, Berlin, Germany
  2. 2Department of Neuropediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany
  1. Correspondence to Professor Markus Schuelke, Department of Neuropediatrics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin D-13353, Germany, markus.schuelke{at}charite.de

Abstract

Objectives 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.

Methods 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.

Results 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.

Conclusions 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.

  • Genetic screening/counselling
  • Diagnostics
  • Clinical genetics

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