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
Author Information
Marie Macnee: Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. ORCID
Eduardo Pérez-Palma: Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile. ORCID
Tobias Brünger: Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Chiara Klöckner: Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Konrad Platzer: Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. ORCID
Arthur Stefanski: Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Ludovica Montanucci: Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
Allan Bayat: Department of Epilepsy Genetics and Personalized Medicine, Member of ERN Epicare, Danish Epilepsy Centre, Dianalund, Denmark.
Maximilian Radtke: Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Ryan L Collins: Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA. ORCID
Michael Talkowski: Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Daniel Blankenberg: Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA. ORCID
Rikke S Møller: Department of Epilepsy Genetics and Personalized Medicine, Member of ERN Epicare, Danish Epilepsy Centre, Dianalund, Denmark.
Johannes R Lemke: Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. ORCID
Michael Nothnagel: Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Patrick May: Luxembourg Centre for Systems Biomedicine, University Luxembourg, Esch-sur-Alzette, Luxembourg. ORCID
Dennis Lal: Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. ORCID
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.
