CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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Abstract

MOTIVATION: Pathogenic copy-number variants (CNVs) can cause a heterogeneous spectrum of rare and severe disorders. However, most CNVs are benign and are part of natural variation in human genomes. CNV pathogenicity classification, genotype-phenotype analyses, and therapeutic target identification are challenging and time-consuming tasks that require the integration and analysis of information from multiple scattered sources by experts.

RESULTS: Here, we introduce the CNV-ClinViewer, an open-source web application for clinical evaluation and visual exploration of CNVs. The application enables real-time interactive exploration of large CNV datasets in a user-friendly designed interface and facilitates semi-automated clinical CNV interpretation following the ACMG guidelines by integrating the ClassifCNV tool. In combination with clinical judgment, the application enables clinicians and researchers to formulate novel hypotheses and guide their decision-making process. Subsequently, the CNV-ClinViewer enhances for clinical investigators' patient care and for basic scientists' translational genomic research.

AVAILABILITY AND IMPLEMENTATION: The web application is freely available at https://cnv-ClinViewer.broadinstitute.org and the open-source code can be found at https://github.com/LalResearchGroup/CNV-clinviewer.

Original languageEnglish
Article numberbtad290
JournalBioinformatics
Volume39
Issue number5
Number of pages6
ISSN1367-4811
DOIs
Publication statusPublished - 4. May 2023

Keywords

  • Humans
  • DNA Copy Number Variations
  • Software
  • Genomics
  • Phenotype
  • Genome, Human

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