Cutevariant

Cutevariant enables manipulation and filtration of genetic variations stored in annotated Variant Calling Format (VCF) files by importing VCF data into a local relational database and supporting complex filter queries via a Domain Specific Language (DSL).

Key Features:

• Annotated VCF support: Manipulation and filtration of genetic variations stored in annotated Variant Calling Format (VCF) files.
• Local relational database import: Import VCF data into a local relational database for structured storage and querying.
• Domain Specific Language (DSL) for queries: Construction of complex filter-queries using a Domain Specific Language (DSL).
• Plugin-based architecture: Extensible architecture allowing customization and addition of analytical components via plugins.

Scientific Applications:

• Genomic variant analysis: Analysis of genetic variation from annotated VCF files for genomic research.
• Variant filtering and prioritization: Construction of complex filters to prioritize and select variants for downstream interpretation.

Methodology:

Import annotated VCF files into a local relational database and enable construction of complex filter queries using a Domain Specific Language (DSL); extensibility is provided via a plugin-based architecture.