ELIXIR enhances the discoverability of genomics data in Europe

Scientists across the world can now discover and query data from six national genomics projects in Europe. This has been a success of the ELIXIR collaboration with the Global Alliance for Genomics and Health (GA4GH) on the Beacon project which has been recently expanded and extended into 2017. ELIXIR Finland (CSC) is one of the six first ELIXIR Beacons.

The Beacon Project is developing an open sharing platform that helps genomic data centers to make their data discoverable. Beacons (centers) allow researchers to query individual datasets to determine whether they contain a specific genetic variant of interest. For example, researchers can ask Beacons simple questions like, ‘Do your data resources have genomes with this allele at that position?'

– Together ELIXIR and GA4GH will standardize the data access protocol supporting a single Beacon query on a number of national Beacon services. We work closely with the main European biobanks and cohorts to understand their requirements for data sharing across Europe. CSC leads on the work connecting national Beacons as an operational service that will also return allele frequencies in the future, says Ilkka Lappalainen Biomedical Service Development Manager of ELIXIR Finland and CSC.

Increased privacy and security

The ELIXIR Beacon project also developed a three-tier data access system which reduces risks to personal data privacy associated with sharing personally identifiable data. Building on the ELIXIR Authentication and Authorization Infrastructure (AAI), researchers can access the data in three tiers (public, registered and controlled), each with increased levels of AAI managed scrutiny around who can use specific data and for what research purposes. The first ELIXIR Beacon solution supporting public and registered access tiers is developed in Finland. The third tier controlled access solution, produced by other ELIXIR Beacons, will follow in year 2017.

– As we are dealing with personal data, privacy and security are absolutely essential. If data owners can be sure their data are only used in legitimate research, they are more likely to share them. Importantly, the data ownership will not change when data are made discoverable through the Beacons (centers). The ELIXIR Authentication and Authorization services ensure that only legitimate researchers can access data containing any personally identifiable information and streamlines the process of applying and obtaining data access, views Mikael Linden, ELIXIR AAI leader from CSC.

In 2017, ELIXIR and GA4GH will expand their partnership to create a network of ELIXIR Beacons and add new security measures to attract stakeholders with more sensitive datasets. The ultimate goal is to ensure that human data generated in Europe can be found by any researcher worldwide.
 

Further information:

ELIXIR Beacons to facilitate sharing of genomics data in Europe
ELIXIR and GA4GH Beacon Team Up to Advance Genomic Data Sharing

Ilkka Lappalainen
Biomedical Service Development Manager
ilkka.lappalainen(at)csc.fi
+358 50 381 8525