Article

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants

2023-12-23

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 3D protein molecule is rarely considered for large-scale variant analysis, nor for their effects on how proteins interact with each other and their environment. We propose...

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Literature Corpus work: 1dc45f24-ba77-55bb-af6a-8eee05fcb4af
DOI: 10.1101/2023.12.22.573111

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