GEN2PHEN Phenotype file format reference

Posted Mon, 08/02/2010 - 18:37 by Tomasz Adamusiak

Brief decription of this documentThis document describes what file types and columns are defined for the 'GEN2PHEN Phenotype Model reference implementation' system. GEN2PHEN Phenotype Model is a minimal data model to represent a data set of phenotypic observations resulting from one or more investigations. Objective is to harmonize the exchange of phenotype descriptions between various repositories and to host phenotype information ranging annotations in locus specific databases to rich clinical reports from cohort studies. The initial version of this model was compiled at the GEN2PHEN phenotype workshop, May 8-9, Geneva, building on previous modeling efforts from the XGAP, METABASE, PaGE, FuGE, and MAGE-TAB projects. This document was created by: Morris Swertz, Tomasz Adamusiak, Juha Muilu, Gudmundur Thorisson, Isabel Fortier, Paul Burton, John Hancock, Illke Lappalainen, Anthony Brookes, other members of the EU-GEN2PHEN, EU-CASIMIR, NBIC/BioAssist collaborations and Helen Parkinson.

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GEN2PHEN Phenotype file format reference

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