| 1 | | PathoKB: |
| 2 | | a pathogenicity-focused mutation knowledge base |
| 3 | | providing clinical utility |
| | 1 | = PathoKB = |
| | 2 | |
| | 3 | PathoKB is a pathogenicity-focused mutation knowledge base providing clinical utility. It is build on a simple phenotype model to capture all generic and individual level evidence for pathogenicity using only four concepts: 'observations, targets, features, protocols'. Currently we are developing the user interface with pathogenicity-focused knowledge displays relevant to assigning and recording pathogenicity of DNA sequence |
| | 4 | variants to enable disease consortia to collate, integrate and deliver the clinically useful knowledge required in healthcare. |
| | 5 | |
| | 6 | == For clinicians == |
| | 7 | |
| | 8 | Please contact us for a test drive at m.a.swertz@rug.nl |
| | 9 | |
| | 10 | For more information download the flyer: |
| | 11 | * PathoKB flyer [pdf] |
| | 12 | |
| | 13 | == For developers == |
| | 14 | |
| | 15 | All software is developed as open source as part of the molgenis open source software at http://www.molgenis.org/svn. |
| | 16 | Please contact m.a.swertz@rug.nl for instructions how to install and develop. |
| | 17 | |
| | 18 | |
