Article
Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A Tissue-Specific In Silico Tool for Discriminating Pathogenicity of Variants of Unknown Significance in Cardiovascular Disease Genes.
Circulation. Genomic and precision medicine - 1 Dec 2024
Ramaker Megan E, Abdulrahim Jawan W, Corey Kristin M, Ramaker Ryne C, Kwee Lydia Coulter, Kraus William E, Shah Svati H
Abstract excerpt
BACKGROUND: Interpretation of variants of uncertain significance (VUSs) remains a challenge in the care of patients with inherited cardiovascular diseases (CVDs); 56% of variants within CVD risk genes are VUS, and machine learning algorithms trained upon large data resources can stratify VUS into higher versus lower probability of contributing to a CVD phenotype. METHODS: We used ClinVar pathogenic/likely...
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