Beacon v2 Reference Implementation: a toolkit to enable federated sharing of genomic and phenotypic data

Area of Science:

• Genomics
• Bioinformatics
• Data Science

Background:

• The Global Alliance for Genomics and Health (GA4GH) developed the Beacon v2 API specification.
• A standardized method for federated discovery of genomic and phenotypic data is needed.
• Existing implementations may lack ease of deployment for local instances.

Purpose of the Study:

• To present the Beacon v2 Reference Implementation (B2RI).
• To provide open-source software tools for deploying a local Beacon v2 instance.
• To offer comprehensive documentation for installation and deployment.

Main Methods:

• Development of a set of open-source software tools.
• Creation of detailed 'Read the Docs' documentation.
• Adherence to open-source licensing (GNU GPL v3.0, Apache License v2.0).

Main Results:

• The B2RI enables 'out-of-the-box' setup of a local Beacon instance.
• Accessible source code and documentation are available.
• Facilitates federated discovery of genomic and phenotypic data.

Conclusions:

• The B2RI lowers the barrier to entry for utilizing Beacon v2.
• It supports the GA4GH's goal of standardized genomic data discovery.
• The open-source nature promotes community adoption and development.