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gptkbp:instanceOf
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gptkb:software
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gptkbp:application
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rare disease diagnosis
variant prioritization
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gptkbp:citation
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Smedley D, et al. Exomiser: automated phenome-based prioritization of disease genes for rare Mendelian disorders. Genome Biol. 2015.
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gptkbp:developer
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gptkb:Charité_–_Universitätsmedizin_Berlin
gptkb:Sanger_Institute
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gptkbp:firstReleased
|
2014
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|
https://www.w3.org/2000/01/rdf-schema#label
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Exomiser
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gptkbp:input
|
phenotype data
genomic variant data
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gptkbp:latestReleaseVersion
|
v13.2.0
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gptkbp:license
|
gptkb:GPLv3
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gptkbp:output
|
ranked list of candidate genes
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gptkbp:platform
|
cross-platform
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gptkbp:repository
|
https://github.com/exomiser/Exomiser
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gptkbp:supports
|
HPO terms
VCF format
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gptkbp:usedBy
|
diagnostic laboratories
clinical genomics researchers
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gptkbp:uses
|
gptkb:Human_Phenotype_Ontology
disease gene databases
variant pathogenicity prediction
|
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gptkbp:website
|
https://exomiser.github.io/
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gptkbp:writtenBy
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gptkb:Java
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gptkbp:bfsParent
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gptkb:Human_Phenotype_Ontology
gptkb:Human_Phenotype_Ontology_Database
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gptkbp:bfsLayer
|
7
|