Article
VarioML framework for comprehensive variation data representation and exchange.
BMC bioinformatics - 3 Oct 2012
Byrne Myles, Fokkema Ivo Fac, Lancaster Owen, Adamusiak Tomasz, Ahonen-Bishopp Anni, Atlan David, Béroud Christophe, Cornell Michael, Dalgleish Raymond, Devereau Andrew, Patrinos George P, Swertz Morris A, Taschner Peter Em, Thorisson Gudmundur A, Vihinen Mauno, Brookes Anthony J, Muilu Juha
Abstract excerpt
BACKGROUND: Sharing of data about variation and the associated phenotypes is a critical need, yet variant information can be arbitrarily complex, making a single standard vocabulary elusive and re-formatting difficult. Complex standards have proven too time-consuming to implement. RESULTS: The GEN2PHEN project addressed these difficulties by developing a comprehensive data model for capturing biomedical...
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