CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

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. CNV pathogenicity classification, genotype–phenotype analyses, and therapeutic target identifi...

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Bibliographic Details
Published in:Bioinformatics (Oxford, England) England), 2023-05, Vol.39 (5)
Main Authors: 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, Lal, Dennis
Format: Article
Language:English
Subjects:
DNA Copy Number Variations
Genome, Human
Genomics
Humans
Original Paper
Phenotype
Software
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Summary: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. 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.
ISSN:1367-4811
1367-4803
1367-4811
DOI:10.1093/bioinformatics/btad290