GeneBe

GeneBe streamlines the automated application of ACMG, AMP, and CAP pathogenicity criteria for assessment of pathogenicity of genetic variants.

Key Features:

• Automated Criteria Evaluation: Evaluates 17 criteria from 28 total ACMG/AMP/CAP criteria through automated algorithms.
• Data Integration: Leverages data from diverse sources including ClinVar for variant assessment.
• Manual Refinement: Enables manual refinement of assignments for specific criteria based on site-collected data.
• API Access: Offers an Application Programming Interface for integration into existing workflows.

Scientific Applications:

• Variant Pathogenicity Classification: Assigns pathogenicity scores to genetic variants with high correlation (r = 0.90) to expert assessments from the ClinGen Evidence Repository.
• Clinical Variant Interpretation: Provides substantial concordance with ClinVar verdict assignments (kappa = 0.69) for clinical decision support.
• Comparative Tool Benchmarking: Performs similarly to VarSome and superior to TAPES and InterVar in comparative analysis of variant classification accuracy.

Methodology:

GeneBe utilizes automated algorithms that evaluate 17 criteria from 28 total ACMG/AMP/CAP criteria, closely aligning with current guidelines and leveraging data from diverse sources including ClinVar.