RevUP

RevUP computes an RVE-score by integrating public databases and user-provided data to evaluate regulatory variants using a 24-criteria framework that quantifies functional, population, and genetic evidence for disease involvement.

Key Features:

• Hybrid Data Integration: Integrates public databases and user-provided data to support variant evaluation.
• 24-Criteria Framework: Applies a 24-criteria scoring scheme that assesses functional, population, and disease-related dimensions of regulatory variants.

Scientific Applications:

• Rare Disease Research: Prioritizes regulatory variants for investigation in rare disease studies using RVE-scores.
• Disease Mechanism Elucidation: Assesses the potential roles of regulatory variants in rare disease pathogenesis by quantifying diverse evidence types.
• Collaborative Research: Provides a standardized scoring metric (RVE-score) to harmonize variant interpretation across studies.

Methodology:

RevUP integrates public databases and user-provided data and applies a 24-criteria scoring framework that combines functional, population, and genetic evidence to compute the RVE-score.