Reference : CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/54940
CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online
English
Macnee, Marie [> >]
Pérez-Palma, Eduardo [> >]
Brünger, Tobias [> >]
Klöckner, Chiara [> >]
Platzer, Konrad [> >]
Stefanski, Arthur [> >]
Montanucci, Ludovica [> >]
Bayat, Allan [> >]
Radtke, Maximilian [> >]
Collins, Ryan L. [> >]
Talkowski, Michael [> >]
Blankenberg, Daniel [> >]
Møller, Rikke S. [> >]
Lemke, Johannes R. [> >]
Nothnagel, Michael [> >]
May, Patrick mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core]
Lal, Dennis [> >]
27-Apr-2023
Bioinformatics
Oxford University Press
Yes
International
1367-4803
1367-4811
Oxford
United Kingdom
[en] CNV ; ACMG ; Variant classification
[en] 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.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.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.Supplementary data are available at Bioinformatics online.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Fonds National de la Recherche - FnR ; DFG ; BMBF
Researchers ; Professionals
http://hdl.handle.net/10993/54940
10.1093/bioinformatics/btad290
https://doi.org/10.1093/bioinformatics/btad290
FnR ; FNR16394868 > Alexander Skupin > MechEpi-2 > Epileptogenesis Of Genetic Epilepsies > 01/10/2021 > > 2021

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