Browsing by Author "Stefansk, Arthur"
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Publication CNV-ClinViewer: enhancing the clinical interpretation oflarge copy-number variants online(2023) Macnee, Marie; Pérez Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefansk, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke; Lemke, Johannes; Nothnagel, Michael; May, Patrick; Lal, DennisMotivation: 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.