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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

• Posted: 12 years ago (Updated: 12 years ago)
• Author: Morris Swertz
• Categories: pathokb molgenis
• Comments (0)

PathoKB

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 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 open source software at ​http://www.molgenis.org/svn. Please contact m.a.swertz@… for instructions how to install and develop.