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Predictors

Variant prediction tools help assess the potential impact of genetic changes. Gene Inspector Pro integrates multiple prediction algorithms to provide comprehensive variant assessment.

Available Predictors

  • DANN Score - Deep learning-based pathogenicity prediction
  • AlphaMissense Score - Structure-based missense variant prediction
  • REVEL Score - Predicts pathogenicity of missense variants based on a combination of scores from 13 individual tools.

Understanding Prediction Scores

Different predictors use various approaches:

  • Machine Learning: DANN uses deep neural networks
  • Structural Analysis: AlphaMissense leverages protein structure data
  • Evolutionary Conservation: Many tools consider cross-species conservation
  • Clinical Data: Some incorporate existing clinical annotations

Best Practices

  • Use multiple predictors for comprehensive assessment
  • Consider prediction confidence levels
  • Validate high-impact predictions with additional evidence
  • Understand each predictor's strengths and limitations