Workshop 2: AIMM

Annotation, Interpretation and Management of Mutations (AIMM)


Organizers: Christopher Baker, University of New Brunswick, Canada;
Dietrich Rebholz-Schuhmann, EMBL-EBI
Date: Sunday, 9 September 2012
Venue: Room "Osaka"
Congress Center Basel, Messeplatz 21


Annotation of mutations with their impact on phenotypic expression is crucial to understanding genetic mechanisms involved in phenotypic processes and ultimately in complex diseases. This knowledge is Key to generating novel hypotheses. Despite the existence of literature, databases and metadata describing impacts of mutations, association studies fail to deliver linkage to phenotypes. Methodology and technologies for extraction, integration and reuse of such information from distributed resources, including scientific literature, is a high priority research theme. This workshop presents the state of the art in extraction and reuse of genotype-phenotype information.