Disease risk of missense mutations using structural inference from predicted function.

ABSTRACT: Advancements in sequencing techniques place personalized genomic medicine upon the horizon, bringing along the responsibility of clinicians to understand the likelihood for a mutation to cause disease, and of scientists to separate etiology from nonpathologic variability. Pathogenicity is discernable from patterns of interactions between a missense mutation, the surrounding protein structure, and intermolecular interactions. Physicochemical stability calculations are not accessible without structures, as is the case for the vast majority of human proteins, so diagnostic accuracy remains in infancy. To model the effects of missense mutations on functional stability without structure, we combine novel protein sequence analysis algorithms to discern spatial distributions of sequence, evolutio

SUBMITTER: Horst JA 

PROVIDER: S-EPMC3095817 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature