Reference : CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online
E-prints/Working papers : Already available on another site
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/50658
CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online
English
Macnee, Marie []
Perez-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 mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core >]
Lal, Dennis []
23-Mar-2022
Cold Spring Harbor Laboratory Press
medRxiv
No
[en] Copy number variation ; Web browser ; Genomics
[en] Purpose Large 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. Methods We developed a web-application combining >250,000 patient and population CNVs together with a large set of biomedical annotations and provide tools for CNV classification based on ACMG/ClinGen guidelines and gene-set enrichment analyses. Results Here, we introduce the CNV-ClinViewer (https://cnv-ClinViewer.broadinstitute.org), 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. Conclusion Overall, this resource facilitates semi-automated clinical CNV interpretation and genomic loci exploration and, in combination with clinical judgment, 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.
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
Fonds National de la Recherche - FnR; BMBF
Treat-Ion
Researchers ; Professionals
http://hdl.handle.net/10993/50658
10.1101/2022.03.23.22272818
https://www.medrxiv.org/content/early/2022/03/23/2022.03.23.22272818
https://www.medrxiv.org/content/10.1101/2022.03.23.22272818v1?%253fcollection=
FnR ; FNR11583046 > Roland Krause > MechEPI > Epileptogenesis Of Genetic Epilepsies > 01/04/2018 > 30/06/2021 > 2017

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