Global network of Beacons lighting up the world of genomic data

The Beacon Project has released new Beacon API v0.4 specifications to provide greater search functions and richer search results. These API specifications are available through the new Beacon website (http://beacon-project.io) which will provide up-to-date support and regular updates on the project developments.

The Beacon Project was launched in 2014 with support from the Global Alliance for Genomics and Health (GA4GH) to address concerns that growing amounts of genomic data were housed in inaccessible institutional ‘silos’. This work is now supported and funded by ELIXIR, to lead the development of the Beacon concept to a powerful genomic data discovery tool aligned with the new GA4GH “Discovery” Work Stream.

A Beacon is an online web service that allows users to query an institution’s databases to determine whether they contain a genetic variant of interest. The query is structured as a yes/no question of the form: “Do you have any genomes with an ‘X’ at position Y on chromosome Z?” Currently 19 organizations are sharing yes/no information about the existence of genetic variants as part of the GA4GH Beacon Network.

The original project established an open specification that demonstrated a willingness of international organizations to share the most basic genomic data. To date, at least 40 organizations have lit Beacons, serving a large, diverse and valuable collection representing hundreds of genomics datasets.

Individual Beacons are linked through the Beacon Network (beacon-network.org), which has processed more than a million queries and provides aggregated responses from multiple sources in a privacy-protecting manner.

With the release of the Beacon v0.4 specification, the protocol provides improved utility through extension of genome query parameters and richer metadata responses.

Upon lighting a Beacon, Data owners can implement an Authentication and Authorisation Infrastructure (AAI), allowing differential data access, e.g. depending on a recognized bona fide researcher status.

Development is ongoing through GitHub and is supported by ELIXIR, GA4GH and a range of organisations.

Full details on the Beacon project are available through the new website.

Schema of how Beacons work - click to enlarge.

How Beacon works - schema

About the Global Alliance for Genomics and Health (GA4GH)

The Global Alliance for Genomics and Health (GA4GH) is an international, nonprofit alliance formed in 2013 to accelerate the potential of research and medicine to advance human health. Bringing together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology, the GA4GH community is working together to create frameworks and standards to enable the responsible, voluntary, and secure sharing of genomic and health-related data

Fri 16 March 2018