Phenomantics statistics

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Number of citations per year for the bioinformatics software tool Phenomantics
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Phenomantics specifications

Information


Unique identifier OMICS_11206
Name Phenomantics
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained Yes

Versioning


No version available

Documentation


Maintainer


  • person_outline Peter S. White

Publication for Phenomantics

Phenomantics citation

library_books

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome wide diagnostics

2016
Genome Med
PMCID: 4736244
PMID: 26838676
DOI: 10.1186/s13073-016-0261-8

[…] the gap between disease rankings and gene or variant rankings, extensions of this initial approach have been developed and applied to genome-wide diagnostic data. Two such tools are PhenIX [, , ] and Phenomantics [], which directly leverage the Phenomizer’s semantic similarity calculation to consider genome-wide genotypic data. Both PhenIX and Phenomantics match query phenotypes to genes by collap […]


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Phenomantics institution(s)
Center for Biomedical Informatics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany; Department of Pediatrics, Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH, USA; Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
Phenomantics funding source(s)
This work was supported by NIH grant 1U01HG006546.

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