VarWatch

VarWatch matches and monitors genetic variants, especially variants of unknown significance (VUS) identified by high-throughput sequencing, to support variant interpretation and case aggregation.

Key Features:

• Variant matching and registration: Registers VUS and identifies potential matches to other case descriptions by comparing entries within its register and against external databases.
• Continuous monitoring: Continuously monitors registered variants to detect new matches or additional evidence relevant to variant interpretation.
• Cross-referencing: Cross-references case descriptions with external databases and an internal register to facilitate discovery of comparable cases.
• Programmatic tools: Provides programmatic tools to perform internal case matching and automated comparison workflows.
• Scalability: Designed to scale to large consortia of diagnostic laboratories and collaborative data producers.

Scientific Applications:

• Gene-based diagnosis: Enables genome-wide detection and evaluation of putatively causative mutations from high-throughput sequencing for inherited human diseases.
• Case aggregation: Facilitates discovery of comparable case reports to support individual patient diagnoses.
• Clinical interpretation of VUS: Supports assessment and re-evaluation of the clinical relevance of variants of unknown significance.

Methodology:

Registers and continuously monitors VUS, cross-references cases against external databases and an internal register, and performs internal case matching while accommodating privacy and legal constraints such as the General Data Protection Regulation (EU-2016/679).