Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:software
|
| gptkbp:application |
rare disease diagnosis
variant prioritization |
| gptkbp:citation |
Smedley D, et al. Exomiser: automated phenome-based prioritization of disease genes for rare Mendelian disorders. Genome Biol. 2015.
|
| gptkbp:developer |
gptkb:Charité_–_Universitätsmedizin_Berlin
gptkb:Sanger_Institute |
| gptkbp:firstReleased |
2014
|
| gptkbp:input |
phenotype data
genomic variant data |
| gptkbp:latestReleaseVersion |
v13.2.0
|
| gptkbp:license |
gptkb:GPLv3
|
| gptkbp:output |
ranked list of candidate genes
|
| gptkbp:platform |
cross-platform
|
| gptkbp:repository |
https://github.com/exomiser/Exomiser
|
| gptkbp:supports |
HPO terms
VCF format |
| gptkbp:usedBy |
diagnostic laboratories
clinical genomics researchers |
| gptkbp:uses |
gptkb:Human_Phenotype_Ontology
disease gene databases variant pathogenicity prediction |
| gptkbp:website |
https://exomiser.github.io/
|
| gptkbp:writtenBy |
gptkb:Java
|
| gptkbp:bfsParent |
gptkb:Human_Phenotype_Ontology
gptkb:Human_Phenotype_Ontology_Database |
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
Exomiser
|