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 E. Talkowski, Daniel J Blankenberg, Rikke Steensbjerre Møller, Johannes R. Lemke, Michael Nothnagel, , Dennis Lal
CNV-ClinViewer provides a web tool for clinical interpretation of large copy-number variants by integrating patient and population data with biomedical annotations.
medRxiv · Mar 23, 2022 · PreprintGenetic & Genomic Medicine