At the beginning of last year, ELIXIR and the Global Alliance for Genomics and Health (GA4GH) announced an expanded partnership for the Beacon project. For the following months, the European Genome-Phenome Archive (EGA) was included in the list of ELIXIR core data and designed as one of the formal GA4GH Driver Projects. Last Friday, October 19th of 2018, the release of the first genomic data interoperability standard from the GA4GH 2018 Strategic Roadmap was announced.

The Beacon API V1 is an open sharing platform that builds the infrastructures that enable genomic centres to share human data without compromising its security. Now, thanks to making data content discoverable, researchers and clinicians can use Beacon to determine whether anyone else has already seen the variants or alleles in which they are interested, and locate the datasets that include the information. Furthermore, it has been integrated the ELIXIR Authorization and Authentication Instrastructure (AAI), demonstrating to data owners how to light data at different levels of data access:

  • Open: these generally consist of datasets at minimal risk for re-identification
  • Registered: these datasets require users to declare their credentials before making a query
  • Controlled: these datasets could contain sensitive personal data, therefore permission must be granted by the Data Access Committees.

The EGA has taken a leading role in the definition of the Beacon specification, in close collaboration with ELIXIR Finland and ELIXIR Switzerland. The EGA Team is also responsible for the development of the ELIXIR Reference Implementation, that is available here.

Moreover, we are thrilled to be part of this great initiative with 22 available Beacon datasets (2 open, 3 registered and 17 controlled):

Further information can be read on Elixir – Europe