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PhenogramViz specifications


Unique identifier OMICS_10362
Name PhenogramViz
Software type Package/Module
Interface Graphical user interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Java
Computer skills Medium
Version 0.1.3
Stability Stable
Maintained Yes


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  • person_outline Sebastian Köhler <>

Publication for PhenogramViz

PhenogramViz in publications

PMCID: 5431949
PMID: 28496102
DOI: 10.1038/s41598-017-01896-w

[…] with chd is shown., to prioritize a candidate cnv region, a network analysis of genes located in the top-ranked 11 deletions and three duplications with phenotype information was performed using the phenogramviz app available as a plugin for cytoscape. to establish a relationship with the phenotype of interest, we used human phenotype ontology (hpo) terms associated with structural heart […]

PMCID: 5082909
PMID: 27788187
DOI: 10.1371/journal.pone.0165174

[…] gene list). sanger sequencing was used to validate potentially pathogenic variants called in haloplex data. for detailed information see sequencing in and ., to validate our cnv selection criteria, phenogramviz (v0.1.2), a tool for clinical interpretation of cnvs [], was used to rank the cnvs of all subjects. phenogramviz utilizes phenotypes and leverages integrated cross-species phenotype […]

PMCID: 4602072
PMID: 26092691
DOI: 10.1007/s00335-015-9577-8

[…] be seen where the whole cnv syndrome can be explained by the disruption of only one of the affected genes, as well as others where different aspects of the syndrome are linked to different genes. phenogramviz is a cytoscape plug-in that allows clinicians to explore their own cnv patients by entering the deleted or duplicated region along with patient phenotypes (köhler et al. )., elsewhere […]

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PhenogramViz institution(s)
Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
PhenogramViz funding source(s)
The project was funded by grants of the Bundesministerium fuer Bildung und Forschung (BMBF project number 0313911) and the European Community's Seventh Framework Programme (Grant Agreement 602300; SYBIL). Further support was provided by the National Institutes of Health (NIH Office of the Director Grant #5R24OD011883)

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