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PathoKB poster at HVP 2012
First public announcement of PathoKB as poster at the 4th Human Variome Project meeting, Paris. Download as pdf
PathoKB
PathoKB is a pathogenicity-focused mutation knowledge base providing clinical utility. It is build on a simple observation model that can 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 variants to enable disease consortia to collate, integrate and deliver the clinically useful knowledge required in healthcare.
For clinicians
Please contact us for a test drive at m.a.swertz@…
For more information download the flyer:
- PathoKB flyer pdf
For developers
All software is developed as open source as part of the MOLGENIS biological software suite at http://www.molgenis.org/svn. Please contact m.a.swertz@… for instructions how to install and develop.
About us
PathoKB is developed as part of GEN2PHEN in collaboration with several clinician consortia.
Attachments (1)
- PathoKB_HVP_2012.pdf (707.5 KB) - added by 12 years ago.
Download all attachments as: .zip
