Publication: CNV-ClinViewer: enhancing the clinical interpretation oflarge copy-number variants online
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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. CN...
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Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D. CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online. Bioinformatics. 2023 May 4;39(5):btad290. doi: 10.1093/bioinformatics/btad290
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