Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.

ABSTRACT: The translation of personal genomics to precision medicine depends on the accurate interpretation of the multitude of genetic variants observed for each individual. However, even when genetic variants are predicted to modify a protein, their functional implications may be unclear. Many diseases are caused by genetic variants affecting important protein features, such as enzyme active sites or interaction interfaces. The scientific community has catalogued millions of genetic variants in genomic databases and thousands of protein structures in the Protein Data Bank. Mapping mutations onto three-dimensional (3D) structures enables atomic-level analyses of protein positions that may be important for the stability or formation of interactions; these may explain the effect of mutations and in s

SUBMITTER: Glusman G 

PROVIDER: S-EPMC5735928 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature