BIOR

BIOR annotates genetic variants with comprehensive genomic annotations to support interpretation of genes, diseases, conditions, genetic tests, and drugs.

Key Features:

• Indexed JSON-encoded Catalogs: Stores public and user-specific annotation sources in indexed JSON-encoded flat files for structured data organization.
• Annotation Retrieval and Combination: Retrieves and combines annotations from multiple catalogs to produce aggregated variant annotations.
• Customizable Pipelines: Supports development of custom annotation pipelines tailored to specific research needs.
• Implementation Languages: Implemented primarily in Java with components written in Perl.

Scientific Applications:

• Variant annotation in genomics: Enables precise annotation of genetic variants for genomic research and interpretation.
• Genetic disease research: Supports analysis of variant associations with genetic diseases and conditions.
• Personalized medicine: Facilitates variant-level evidence used in personalized medicine approaches.
• Pharmacogenomics: Provides annotations relevant to drug–gene interactions and pharmacogenomic analyses.
• Genetic test development: Assists in assembling annotations required for development and interpretation of genetic tests.

Methodology:

Annotation data are stored in structured JSON-encoded flat files that are indexed for rapid access; annotations from multiple catalogs can be combined, and user-specific catalogs and custom annotation pipelines can be created.