weijiang99/acmg-evidence-prediction

ACMG Evidence Prediction Lookup

Search and visualize ACMG evidence predictions (computational, functional, population) for ClinVar variants.

Features

• —View All Evidence Types: See computational, functional, and population evidence simultaneously
• —Multi-criteria Search: Search by gene, ClinVar identifiers, or genomic coordinates
• —Confidence Scores: Two-stage prediction with evidence detection and P/B classification scores
• —Interactive Results: Explore predictions and submission comments with ACMG evidence codes

Usage

1. 1.Enter search criteria (gene name, ClinVar IDs, or genomic coordinates)
2. 2.View predictions for all three evidence types at once
3. 3.Each evidence column shows detection confidence and P/B classification with ACMG codes

Model Information

Two-stage ACMG evidence classification framework:

• —Stage 1: Evidence type detection
• —Stage 2: Pathogenic vs. Benign classification

Citation

If you use this tool, please cite the associated publication.