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

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dc.contributor.authorMacnee, Marie
dc.contributor.authorPérez Palma, Eduardo
dc.contributor.authorBrünger, Tobias
dc.contributor.authorKlöckner, Chiara
dc.contributor.authorPlatzer, Konrad
dc.contributor.authorStefansk, Arthur
dc.contributor.authorMontanucci, Ludovica
dc.contributor.authorBayat, Allan
dc.contributor.authorRadtke, Maximilian
dc.contributor.authorCollins, Ryan
dc.contributor.authorTalkowski, Michael
dc.contributor.authorBlankenberg, Daniel
dc.contributor.authorMøller, Rikke
dc.contributor.authorLemke, Johannes
dc.contributor.authorNothnagel, Michael
dc.contributor.authorMay, Patrick
dc.contributor.authorLal, Dennis
dc.date.accessioned2024-05-10T19:13:50Z
dc.date.available2024-05-10T19:13:50Z
dc.date.issued2023
dc.description.abstractMotivation: 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.
dc.description.versionAceptada
dc.identifier.citationMacnee 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
dc.identifier.doihttps://doi.org/10.1093/bioinformatics/btad290
dc.identifier.urihttps://hdl.handle.net/11447/8732
dc.language.isoen
dc.subjectCNV
dc.subjectVariantes patógenas
dc.titleCNV-ClinViewer: enhancing the clinical interpretation oflarge copy-number variants online
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceBioinformatics
dspace.entity.typePublication
relation.isAuthorOfPublication31623ebd-7791-4ceb-b04c-c69d7496b40f
relation.isAuthorOfPublication.latestForDiscovery31623ebd-7791-4ceb-b04c-c69d7496b40f

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