Observ-OM, Human Mutation, 2013

The GCC was invited to join the EU-GEN2PHEN consortium on a mission to develop a data exchange model and format for complex phenotype and genotype data. The GCC led the development of the standard, and bridges teams from GEN2PHEN, EU-BIOSHARE, P3G, and BBMRI. This model was highly successful and is being adopted for other projects, including Vario-ML (published by J Muilu et al), BBMRI, CTMM, LifeLines, and BioMedBridges biobank catalogues. See: Adamusiak T, Parkinson H, Muilu J, … Swertz MA (2012)¬†Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.¬†Hum Mutat. 33(5):867-73.

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