PhenogramViz statistics

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Citations per year

Number of citations per year for the bioinformatics software tool PhenogramViz

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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


No version available


  • person_outline Sebastian Köhler

Publication for PhenogramViz

PhenogramViz citations


Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

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

[…] In order to identify gene or genes located in CNV regions that could potentially act as genetic modifiers of heart anatomy, the PhenogramViz plugin of CytoScape was used. This plugin facilitates a phenotype guided interpretation of CNVs by using the integrated cross-species phenotype ontology Uberpheno. The results were visual […]


Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

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

[…] 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 ontol […]


Disease insights through cross species phenotype comparisons

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

[…] can 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. ). […]

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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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