Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

ABSTRACT: Clinical genomics sequencing is rapidly expanding the number of variants that need to be functionally elucidated. Interpreting genetic variants (i.e., mutations) usually begins by identifying how they affect protein-coding sequences. Still, the three-dimensional (3D) protein molecule is rarely considered for large-scale variant analysis, nor in analyses of how proteins interact with each other and their environment. We propose a standardized approach to scoring protein surface property changes as a new dimension for functionally and mechanistically interpreting genomic variants. Further, it directs hypothesis generation for functional genomics research to learn more about the encoded protein's function. We developed a novel method leveraging 3D structures and time-dependent simulations to

SUBMITTER: Dsouza NR 

PROVIDER: S-EPMC11594063 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature