Article
Disease risk of missense mutations using structural inference from predicted function.
Current protein & peptide science - 1 Nov 2010
Horst Jeremy A, Wang Kai, Horst Orapin V, Cunningham Michael L, Samudrala Ram
Abstract excerpt
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...
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