Phenomantics statistics

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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

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Documentation


Maintainer


  • person_outline Peter S. White <>

Publication for Phenomantics

Phenomantics in publication

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

[…] 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 […]


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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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