Project
Beacon v2 CBI Tools is an open-source bioinformatics toolkit for preparing Beacon v2 data in Beacon Friendly Format. Its command-line interface is called bff-tools.
Beacon v2 CBI Tools is the actively developed continuation of the original beacon2-ri-tools codebase, now developed at CNAG Biomedical Informatics by its original developer.
The project brings together Beacon v2 metadata validation, genomic data conversion, deterministic BFF JSON generation, and standalone inspection for research data.
Project Scope
Beacon data preparation
Validate metadata and convert VCF or SNP-array input into portable BFF collections that remain independent of a particular Beacon backend.
Repository
The source code is available at CNAG-Biomedical-Informatics/beacon2-cbi-tools.
Docusaurus docs
The documentation is maintained with Docusaurus and organized around install paths, commands, workflows, outputs, and validation notes.
Contributors
Manuel Rueda, PhD
Original developer of beacon2-ri-tools and Beacon v2 CBI Tools.
Mauricio Moldes and Roberto Ariosa
Mauricio contributed containerization; Roberto contributed the MongoDB implementation.
Sabela de la Torre, Toshiaki Katayama, and Dietmar Fernandez-Orth, PhD
Earlier work by Sabela, Toshiaki, and Dietmar informed vcf2bff. Dietmar also contributed usability feedback and bcftools/SnpEff commands.
Publication and Use
How to cite
Use the project citation when referencing the toolkit in publications, reports, or derived deployments.
Disclaimer
The toolkit is intended for research data preparation. Generated annotations and outputs are not medical advice.
Validation and reproducibility
Understand what validation checks, what it cannot prove, and what to preserve when sharing a run.