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Genomic Beacon API

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The Genomic Beacon API is a standard of the Global Alliance for Genomics and Health (GA4GH).[1] The "Beacon" protocol was originally proposed as a simple standard for the discovery of genomic sequence variants using federated queries against a potentially large number of genomic databases with implicit security provided through the use of limited query parameters and restriction to Boolean responses.

In the version 2 of the protocol the API supports "phenoclinical" queries (e.g. combining parameters for genomic variant discovery with diagnostic or technical parameters) as well as responses containing versions of the matched records (Beacon documentation).

References

  1. ^ Rambla, Jordi; Michael Baudis; Roberto Ariosa; Tim Beck; Lauren A. Fromont; Arcadi Navarro; Rahel Paloots; Manuel Rueda; Gary Saunders; Babita Singh; John D. Spalding; Juha Törnroos; Claudia Vasallo; Colin D. Veal; Anthony J. Brookes (17 March 2022). "Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond". Human Mutation. 43 (6): 791.