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

[en] 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.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.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.Supplementary data are available at Bioinformatics online.

Research center :

- Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

Disciplines :

Genetics & genetic processes

Author, co-author :

Macnee, Marie

Pérez-Palma, Eduardo

Brünger, Tobias

Klöckner, Chiara

Platzer, Konrad

Stefanski, Arthur

Montanucci, Ludovica

Bayat, Allan

Radtke, Maximilian

Collins, Ryan L.

More authors (7 more)

External co-authors :

yes

Language :

English

Title :

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

Publication date :

27 April 2023

Journal title :

Bioinformatics

ISSN :

1367-4803

eISSN :

1367-4811

Publisher :

Oxford University Press, Oxford, United Kingdom

Peer reviewed :

Peer reviewed

Focus Area :

Systems Biomedicine

Additional URL :

https://doi.org/10.1093/bioinformatics/btad290

FnR Project :

FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-...) - Alexander Skupin

Funders :

FNR - Fonds National de la Recherche [LU]
DFG - Deutsche Forschungsgemeinschaft [DE]
BMBF - Bundesministerium für Bildung und Forschung [DE]

Available on ORBilu :

since 29 April 2023

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