wiki:PathoKB

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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:

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.

Last modified 12 years ago Last modified on 2012-06-12T12:07:46+02:00

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