Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:software
|
| gptkbp:alternativeTo |
gptkb:SIFT
gptkb:CADD gptkb:PolyPhen PROVEAN |
| gptkbp:citation |
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010 Aug;7(8):575-6.
|
| gptkbp:developedBy |
gptkb:Charité_–_Universitätsmedizin_Berlin
|
| gptkbp:firstReleased |
2009
|
| gptkbp:freeFrom |
academic use
|
| https://www.w3.org/2000/01/rdf-schema#label |
MutationTaster
|
| gptkbp:input |
DNA sequence variants
|
| gptkbp:language |
English
|
| gptkbp:maintainedBy |
Institute of Medical Genetics and Human Genetics, Charité
|
| gptkbp:output |
prediction of pathogenicity
|
| gptkbp:relatedTo |
clinical genetics
next-generation sequencing genetic diagnostics |
| gptkbp:supportsAlgorithm |
gptkb:machine_learning
|
| gptkbp:usedFor |
variant effect prediction
predicting disease-causing potential of DNA sequence variants |
| gptkbp:website |
https://www.mutationtaster.org/
|
| gptkbp:bfsParent |
gptkb:CADD_scores
gptkb:MutationTaster_scores |
| gptkbp:bfsLayer |
7
|