DiscoveryDiscovery Work Stream

Helps researchers and clinicians explore the wealth of worldwide genomic variations through products for searching and exchanging genomic data.

We live in an era of plentiful genomic data, thanks to cheaper sequencing and better analysis platforms. But these crucial resources for human health are not easy to access — spread across the world, stored in very different ways, and subject to conflicting regulations. The scale of data generation presents new problems for collecting and comparing genomic information.

The Discovery Work Stream aims to build networks of tools that can search the world’s genomic wealth. Discovery products link data and services into a wider “internet of genomics” that will make precision medicine a reality for patients. In the future, your doctor will be able to search this “internet” and take into account your personal genetic makeup to choose better prescription medications and improve your overall health.

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The Discovery Work Stream facilitates the discovery and utilisation of data sources and services.
Image summary: The Discovery Work Stream facilitates the discovery and utilisation of data sources and services.
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Technical description
Develops search tools that aim to let researchers and clinicians find genomic data and services anywhere in the world. Helps build an “internet of genomics” that sidesteps technical and regulatory incompatibility and accelerates genomic medicine.
work stream leads
  • Michael Baudis
  • Nara Sobreira
staff contact

Products

Community Resources

Dive deeper into our Work Stream! Discovery develops search tools that let researchers and clinicians find genomic data and services anywhere in the world. This unified discovery platform helps build an “internet of genomics” that sidesteps technical and regulatory incompatibility and accelerates genomic medicine. Discovery products offer capabilities like enabling researchers to discover new, relevant datasets while honouring patient consent and legal requirements or providing a simple, standardised protocol to describe information about a single web service.


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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.
16 Jan 2024
The GA4GH Data Model and Schema Consensus (DaMaSC) Study Group would love to hear your feedback.
16 Nov 2023
Join four new GA4GH groups to help shape guidelines for pandemic prep, schema consensus, sequencing metadata, and categorical variants
12 May 2023
Tell us what you think!
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Title

Info

Repeat

Day

Time

Duration

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

Monthly
Tuesday
14:00 UTC
1 Hour
Bi-Weekly
Wednesday
15:00 UTC
1 Hour
Data Model and Schema Consensus Study Group (DaMaSC)

Exploring ways to facilitate interoperability across GA4GH.

To Be Decided
To Be Decided
UTC
1 Hour
Monthly
Wednesday
14:30 UTC
30 Minutes

This group meets to build a checklist of metadata properties that need to be captured by high-throughput-sequencing methods. Meets on the first Monday of every month.

Monthly
Monday
14:00 UTC
1 Hour
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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
  • Salvador Capella-Gutierrez
    Barcelona Supercomputing Center
  • Knox Carey
    Intertrust Technologies Corporation
  • Shu Hui Chen
    NIH National Heart, Lung, and Blood Institute (NHLBI)
  • Miro Cupak
    DNAstack
  • Joaquin Dopazo
    Progress and Health Foundation
  • Marc Fiume
    DNAstack
  • Paul Flicek
    University of Cambridge
  • Ian Fore
    NIH National Center for Biotechnology Information (NCBI)
  • Lauren Fromont
    Centre for Genomic Regulation
  • Jonathan Fuerth
    DNAstack
  • Gwênlyn Glusman
    Institute for Systems Biology
  • Sumit Jamuar
    Global Gene Corp
  • Saumya Jamuar
    KK Women's and Children's Hospital
  • Patrick Magee
    DNAstack
  • Mamana Mbiyavanga
    University of Cape Town
  • Jean Muller
    Laboratoire de génétique médicale (UMR_S 1112)
  • Heimo Muoller
    Medical Univerisity Graz
  • Rahel Paloots
    University of Zurich
  • Milan Panik
    DNAstack
  • Jordi Rambla
    Centre for Genomic Regulation
  • Kathy Reinold
    Independent Contributor
  • Manuel Rueda
    Centro Nacional de Análisis Genómico (CNAG)
  • Nara Sobreira
    Johns Hopkins University School of Medicine
  • David Steinberg
    University of California, Santa Cruz
  • Morris Swertz
    University Medical Center Groningen
  • Susheel Varma
    Information Commissioner's Office
  • Colin Veal
    University of Leicester
  • Christina Yung
    Ontario Institute for Cancer Research (OICR), Indoc Research
  • Joeri van der Velde
    University Medical Center Groningen