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Article

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

International journal of molecular sciences - 8 Nov 2024

Dsouza Nikita R, Haque Neshatul, Tripathi Swarnendu, Zimmermann Michael T

Abstract excerpt

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...

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Identifiers

PMID: 39596086
DOI: 10.3390/ijms252212018
PMCID: PMC11594063

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