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= PathoKB =

PathoKB is a pathogenicity-­focused mutation knowledge base providing clinical utility. It is build on a simple [http://www.ncbi.nlm.nih.gov/pubmed/22416047 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@rug.nl

For more information download the flyer:
* PathoKB flyer [http://www.molgenis.org/attachment/wiki/PathoKB/PathoKB_HVP_2012.pdf pdf]
== For developers ==

All software is developed as open source as part of the [http://www.molgenis.org MOLGENIS] biological software suite at http://www.molgenis.org/svn. 
Please contact m.a.swertz@rug.nl for instructions how to install and develop.

== About us ==

PathoKB is developed as part of [http://www.gen2phen.org GEN2PHEN] in collaboration with several clinician consortia.