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A probabilistic method to identify compensatory substitutions for pathogenic mutations

Easton, Brett; Isaev, Alexander; Huttley, Gavin Austin; Maxwell, Peter

Description

Complex systems of interactions govern the structure and function of biomolecules. Mutations that substantially disrupt these interactions are deleterious and should not persist under selection. Yet, several instances have been reported where a variant confirmed as pathogenic in one species is fixed in the orthologs of other species. Here we introduce a novel method for detecting compensatory substitutions for these so-called compensated pathogenic deviations (CPDs), incorporating knowledge of...[Show more]

CollectionsANU Research Publications
Date published: 2007
Type: Conference paper
URI: http://hdl.handle.net/1885/27271
Source: Proceedings of the 5th Asia-Pacific Bioinformatics Conference (APBC 2007)

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