Genetics

Discover Var3PPred tool in our latest article, "Var3PPred: Variant Prediction Based on 3-D Structure and Sequence Analyses of Protein-Protein Interactions on Autoinflammatory Diseases," published in PeerJ. This tool advances the classification of pathogenic variants in systemic autoinflammatory diseases (SAIDs) by integrating sophisticated protein-protein interaction analysis with 3D structural data. Using the Infevers database, including 702 missense disease-associated variants and leveraging algorithms like the Synthetic Minority Over-sampling Technique (SMOTE) for balancing, Var3PPred employs machine learning techniques, achieving an exceptional AUROC of 99%. The article details our methodology and the significant implications of Var3PPred for enhancing genetic diagnostics and fostering personalized medicine approaches in treating SAIDs. Explore the complete study for an in-depth understanding of how Var3PPred sets a new standard in genetic variant analysis.