Article

Integration of Multi-level Molecular Scoring for the Interpretation of RAS-Family Genetic Variation

2019-10-07

Abstract excerpt

Protein-coding genetic variants are the first considered in most studies and Precision Medicine workflows, but their interpretation is primarily driven by DNA sequence-based analytical tools and annotations. Thus, more specific and mechanistic interpretations should be attainable by integrating DNA-based scores with scores from the protein 3D structure. However, reliable and reproducible standardization of methods...

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Literature Corpus work: 95694e04-b0dd-5667-8e79-8d92659b6495
DOI: 10.1101/794131

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