Beacon v2: a tool for data discovery

Motivation

In the era of data-driven health research and personalised medicine, human genomic data has become extremely valuable. These are also identifiable data, as they carry information pointing to a specific individual as well as their own family; and as such, they must be protected. This makes data discovery particularly challenging: this is where “Beacon” comes in.

A “Beacon” is an API aiming to enable the search of genomic variants and associated information without jeopardising the privacy of the dataset. Here, we refer to its current version, namely version 2 (v2).

Definition

Beacon v2 is a term that can refer to different aspects. The EGA is playing a central role in the following aspects:

1. The Beacon v2 protocol is a Global Alliance for Health and Genomics standard.
2. The Beacon v2 Reference Implementation (B2RI) is an “out-of-the-box” Beacon instance developed with ELIXIR, which facilitates Beacon deployment.
3. The EGA Beacon(s) are Beacons following the v2 standard and using the B2RI, deployed on top of data hosted at the EGA and allowing for their discovery.

Resources

Depending on whether you are visiting us a stakeholder (you need more general information about Beacon), a deployer /implementer (you want to have your own Beacon instance), or an EGA user (you want to query Beacon and start browsing data), you will be interested in the following resources: