Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Our Strategic Road Map defines strategies, standards, and policy frameworks to support responsible global use of genomic and related health data.
Discover how a meeting of 50 leaders in genomics and medicine led to an alliance uniting more than 5,000 individuals and organisations to benefit human health.
GA4GH Inc. is a not-for-profit organisation that supports the global GA4GH community.
To guide our collaborative, globe-spanning alliance, GA4GH relies on a Standards Steering Committee and an Executive Committee.
The Funders Forum brings together organisations that offer both financial support and strategic guidance.
The EDI Advisory Group responds to issues raised in the GA4GH community, finding equitable, inclusive ways to build products that benefit diverse groups.
Distributed across four Host Institutions, our staff team supports the mission and operations of GA4GH.
Curious who we are? Meet the people and organisations across six continents who make up GA4GH.
More than 500 organisations connected to genomics — in healthcare, research, patient advocacy, industry, and beyond — have signed onto the mission and vision of GA4GH as Organisational Members.
These core Organisational Members are genomic data initiatives that have committed resources to guide GA4GH work and pilot our products.
This subset of Organisational Members whose networks or infrastructure align with GA4GH priorities has made a long-term commitment to engaging with our community.
Local and national organisations assign experts to spend at least 30% of their time building GA4GH products.
Anyone working in genomics and related fields is invited to participate in our inclusive community by creating and using new products.
Wondering what GA4GH does? Learn how we find and overcome challenges to expanding responsible genomic data use for the benefit of human health.
Study Groups define needs. Participants survey the landscape of the genomics and health community and determine whether GA4GH can help.
Work Streams create products. Community members join together to develop technical standards, policy frameworks, and policy tools that overcome hurdles to international genomic data use.
GIF solves problems. Organisations in the forum pilot GA4GH products in real-world situations. Along the way, they troubleshoot products, suggest updates, and flag additional needs.
NIF finds challenges and opportunities in genomics at a global scale. National programmes meet to share best practices, avoid incompatabilities, and help translate genomics into benefits for human health.
Communities of Interest find challenges and opportunities in areas such as rare disease, cancer, and infectious disease. Participants pinpoint real-world problems that would benefit from broad data use.
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All GA4GH standards, frameworks, and tools follow the Product Development and Approval Process before being officially adopted.
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4 Jan 2017
The Beacon Project of the Global Alliance for Genomics and Health (GA4GH) and ELIXIR, the European infrastructure for life-science data, announced today an expansion of their partnership to improve the discoverability of European genomic data.
TORONTO, CANADA & HINXTON, UK — The Beacon Project of the Global Alliance for Genomics and Health (GA4GH) and ELIXIR, the European infrastructure for life-science data, announced today an expansion of their partnership to improve the discoverability of European genomic data.
The Beacon Project is an open sharing platform that allows any genomic data centre in the world to make its data discoverable. It takes a technically straightforward approach whereby users can query an individual beacon to determine whether the associated dataset contains information about a given genetic variant. For example, researchers can ask beacons simple questions like, ‘Do your data resources have genomes with this allele at that position?’ The project is a first-of-its kind effort to make the massive amounts of life sciences data being collected in healthcare and research settings around the globe accessible. To date, 70 beacons have been “lit,” including seven in the UK and another nine across Europe, allowing users unprecedented discovery of genomic variants in national and international cohorts. As a GA4GH Demonstration Project, Beacon represents a central method by which GA4GH is achieving its mission to advance human health through the sharing of genomic and clinical data.
ELIXIR unites Europe’s leading life-science organisations to manage the increasing volume of biological data now being produced. Currently, there are 20 ELIXIR Nodes across Europe, set up as a distributed infrastructure and coordinated by the ELIXIR Hub based near Cambridge, UK. The partnership will build on an existing collaboration between ELIXIR and GA4GH Beacons, which has already resulted in six ELIXIR Beacons in Sweden, Finland, France, Switzerland, Belgium, and in the European Genome-phenome Archive (EGA, a joint project of EMBL-EBI and the Center for Genomic Regulation in Barcelona, Spain). Another ELIXIR Beacon will soon be launched in the Netherlands.
“The expanded partnership will bolster the existing network by dedicating unprecedented resources to drive Beacon development, increasing both the discoverability of European data as well as the overall diversity of genotypes found in Beacons,” said Project Co-Lead Marc Fiume of DNAstack, which develops the Beacon Network (beacon-network.org).
“ELIXIR is setting up a coordinated data infrastructure across Europe,” said Serena Scollen, Head of Human Genomics and Translational Data at ELIXIR and Co-Lead of the Beacon Project. “Working in silos to manage data is not effective, but we can’t just be thinking about Europe. We need to be aligned with and developing standards that are being set on an international scale. And that’s where it fits with GA4GH.”
The objectives for 2017 are (i) to establish the network of ELIXIR Beacons, (ii) develop new features, (iii) add security measures to attract stakeholders with more sensitive data sets while minimising risks to individual privacy, and (iv) increase strategic partnering with national data owners to enable data flow to the Beacon service. ELIXIR will be dedicating funds and technical expertise to drive implementation of the Beacon technology within ELIXIR Nodes. The result will be that European human data will become discoverable on an international stage. “We have a strong commitment to develop tools and set standards for sharing genomic data and international collaboration,” said Scollen. “The aim is to ensure data generated in Europe can be found by researchers across the globe.”
The partnership consists of six “work packages,” designed to develop new features for Beacon and to introduce an ELIXIR Beacon Network that allows users to query all ELIXIR Beacons simultaneously. New security features will build on earlier collaborative efforts of ELIXIR and the GA4GH, which have demonstrated interoperable mechanisms for authentication and authorisation as well as techniques for mitigating privacy attacks. “Security is essential to widespread data sharing,” said Knox Carey of Intertrust, a member of the GA4GH Security Working Group. “Data owners are more willing to share if they know that their data are not being misused. The partnership between ELIXIR and GA4GH will accelerate the deployment of practical, risk-appropriate secure systems that enable and encourage data sharing worldwide.”
The ELIXIR Beacon Network will use the ELIXIR Authentication and Authorization Infrastructure (AAI) to streamline access to the data in a secure and safe manner. “The Beacon project is laying the foundation for a global search engine for genomic information,” said Fiume. “The ELIXIR partnership will allow us to significantly accelerate our mission to globalize a secure, federated ecosystem for genomics data discovery.”
GA4GH Executive Director Peter Goodhand said, “ELIXIR is helping data stewards make their data discoverable for re-use. Working with the GA4GH, ELIXIR is helping to scale up existing standards and good practices in data discovery. ”
The technical advances that emerge from the partnership will feed back into the Beacon Project as a whole and will enable secure federated sharing across the global Beacon Network, which now includes Beacons on every continent.