Beacon

Enables researchers to discover new, relevant datasets while honouring patient consents and legal requirements

One of the bottlenecks in human biomedical research is finding datasets that researchers can analyse using new approaches. Developed by the GA4GH Discovery Work Stream, the Beacon API is a simple data discovery tool that allows someone to search genomic and biomedical data worldwide, helping researchers find new datasets without compromising dataset privacy or ownership.

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Benefits

  • Allows users to query for biological data, phenotypic/clinical data, and metadata
  • Accepts queries using semantic codes such as CURIEs (e.g. phenotypes, disease codes, sex, or age)
  • Shows who to contact or where the data could be accessed and which are the data use conditions in order to get the data
  • Offers the possibility to query for the annotations on the variants found, including expert or clinician conclusions — when available — on the pathogenicity of a specific mutation in an individual or its contribution to a particular phenotype
  • Gives information about cohorts and/or study

Target users

Researchers, clinicians, data generators, data custodians, data protection authorities, and developers

Image summary: Beacon helps researchers discover useful information about data they can study while helping data custodians securely share insights from their data with the world.
THEME
CATEGORY
TYPE
STATUS
Work Stream
LATEST VERSION
Product Leads
  • Anthony Brookes
  • Jordi Rambla
  • Michael Baudis
Staff Contact
Tools & Platforms

Community resources

Dive deeper into this product! Beacon allows for the discovery of genomic, phenotypic, and clinical data. Earlier versions enabled researchers to get information about the presence or absence of a specific genomic mutation in a dataset, either from patients with a certain disease or from the population in general. The latest version of the Beacon API builds upon this premise, adding robust features for querying associated metadata, accessing annotations about the queried variant, searching information on cohorts, triggering the next step in the data access process, and more. The API contains two parts: a framework for how to deploy a Beacon, and a data model to describe genomic and clinical information. This modular approach gives the API significant flexibility in terms of how the data can be hosted, accessed, or queried, and enables interoperability between Beacons.


Date

Title

Info

30 Jan 2024
The GA4GH Beacon v2 specification team is inviting active contributors to “scout” specific topics that will allow the team to improve the API and boost its adoption in the community.

Title

Info

Repeat

Day

Time

Duration

This group meets to discuss current activities surrounding the Beacon API.

Monthly
Tuesday
14:00 UTC
1 Hour

Date

Version

21 Jun 2022
10 Dec 2018

Title

Related Driver Projects and Organisations

ICGC ARGO
BRCA Challenge
Canadian Distributed Infrastructure for Genomics (CanDIG)
European Joint Programme on Rare Disease (EJP RD)
ELIXIR Beacon
ENA / EVA / EGA, EMBL's European Bioinformatics Institute (EBI), Centre for Genomic Regulation
Human Heredity and Health in Africa (H3Africa)
Variant Interpretation for Cancer Consortium (VICC)

Don't see your name? Get in touch:

  • Dixie Baker
    Martin, Blanck and Associates
  • Michael Baudis
    University of Zurich
  • Sergi Beltran
    CNAG CRG
  • Guillaume Bourque
    McGill University / Université McGill
  • Michael Brudno
    University Health Network
  • David Bujold
    McGill University / Université McGill
  • Salvador Capella-Gutierrez
    Barcelona Supercomputing Center
  • Knox Carey
    Intertrust Technologies Corporation
  • Miro Cupak
    DNAstack
  • Joaquin Dopazo
    Progress and Health Foundation
  • Marc Fiume
    DNAstack
  • Paul Flicek
    University of Cambridge
  • Lauren Fromont
    Centre for Genomic Regulation
  • Gwênlyn Glusman
    Institute for Systems Biology
  • Melissa Haendel
    University of Colorado Anschutz Medical Campus
  • Dean Hartley
    Autism Speaks
  • Sumit Jamuar
    Global Gene Corp
  • Saumya Jamuar
    KK Women's and Children's Hospital
  • Patrick Magee
    DNAstack
  • Alice Mann
    Wellcome Sanger Institute (WSI)
  • Mamana Mbiyavanga
    University of Cape Town
  • Arshiya Merchant
     
  • Jean Muller
    Laboratoire de génétique médicale (UMR_S 1112)
  • Heimo Muoller
    Medical Univerisity Graz
  • Rahel Paloots
    University of Zurich
  • Jordi Rambla
    Centre for Genomic Regulation
  • Augusto Rendon
    Genomics England
  • Manuel Rueda
    Centro Nacional de Análisis Genómico (CNAG)
  • Babita Singh
    Centre for Genomic Regulation
  • Dylan Spalding
    CSC – IT CENTER FOR SCIENCE
  • Morris Swertz
    University Medical Center Groningen
  • Susheel Varma
    Information Commissioner's Office
  • Colin Veal
    University of Leicester
  • Brian Walsh
    Knight Diagnostic Laboratories, Oregon Health & Science University
  • Christina Yung
    Ontario Institute for Cancer Research (OICR), Indoc Research
  • Joeri van der Velde
    University Medical Center Groningen

News, events, and more

Catch up with all news and articles associated with Beacon.

Image of Nara Sobreira next to words "Welcome new GA4GH Co-Lead"
14 Jul 2023
GA4GH Discovery Work Stream welcomes new Co-Lead Nara Sobreira of Johns Hopkins Medicine
See more
A woman is searching something on a computer.
25 May 2022
New release of GA4GH Beacon expands genomic and clinical data access
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8 Jul 2021
GA4GH standards in a global learning health system
See more