HEREAT Human Molecular
Genetics and Epigenetics
Research Laboratory

Tools

CpG Island Search

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A tool designed to investigate the role of DNA methylation in gene regulation, particularly CpG islands, which are key to understanding epigenetic mechanisms in health and disease. The platform enables users to explore, visualize, and analyze CpG methylation data with a user-friendly interface, supporting researchers in conducting in-depth methylation studies across various genomes and species.

Var3PPred: A Novel Tool to Predict Pathogenic Variants in Autoinflammatory Disorders

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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.