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.
See all our products — always free and open-source. Do you work on cloud genomics, data discovery, user access, data security or regulatory policy and ethics? Need to represent genomic, phenotypic, or clinical data? We’ve got a solution for you.
All GA4GH standards, frameworks, and tools follow the Product Development and Approval Process before being officially adopted.
Learn how other organisations have implemented GA4GH products to solve real-world problems.
Help us transform the future of genomic data use! See how GA4GH can benefit you — whether you’re using our products, writing our standards, subscribing to a newsletter, or more.
Help create new global standards and frameworks for responsible genomic data use.
Align your organisation with the GA4GH mission and vision.
Solve your real-world data problems with support from this valuable network of global institutions.
Work with like-minded groups committed to better data use in areas like rare disease, cancer, and infectious disease.
Share your thoughts on all GA4GH products currently open for public comment.
Solve real problems by aligning your organisation with the world’s genomics standards. We offer software dvelopers both customisable and out-of-the-box solutions to help you get started.
Learn more about upcoming GA4GH events. See reports and recordings from our past events.
Speak directly to the global genomics and health community while supporting GA4GH strategy.
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Read news, stories, and insights from the forefront of genomic and clinical data use.
Attend an upcoming GA4GH event, or view meeting reports from past events.
See new projects, updates, and calls for support from the Work Streams.
Read academic papers coauthored by GA4GH contributors.
Listen to our podcast OmicsXchange, featuring discussions from leaders in the world of genomics, health, and data sharing.
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View the latest GA4GH updates, Genomics and Health News, Implementation Notes, GDPR Briefs, and more.
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14 Nov 2022
Slides • Recording
Round-robin updates from the GA4GH Work Stream leads followed by a fireside chat between GA4GH CEO Peter Goodhand and long-time contributor Meg Doerr, who leads the applied ELSI research team at Sage Bionetworks.
Fireside Chat with Megan Doerr
Megan Doerr, an associate director at Sage Bionetworks, spoke with GA4GH CEO Peter Goodhand about new research in ethical, legal, and social implications (ELSI), the future of open science, and the crucial nature of community.
Cancer Community workshop
After a few months hiatus, the Cancer Community is back to inform members of refinements to the group’s structure and approach. Salvador Capella-Gutierrez from the Barcelona Supercomputing Centre will provide a presentation on the new EOSC4Cancer Project. Areas of synergy between the Cancer Community and the EOSC4Cancer Project will be identified and followed up on.
Mapping REWS deliverables
The REWS Mapping Workshop aims to develop a ‘REWS Lifecycle’ Diagram that can be used for both internal and external communications. The development of this lifecycle will be supported by identifying common themes among subgroups and promoting discussion among work group participants. REWS has been successful in publishing an array of community-developed standards. We will map these through the genomics lifecycle to understand how these standards can work together, and whether there are common themes we can promote throughout. This will clearly demonstrate where REWS deliverables can be adopted, how these can work together, and help identify any gaps that REWS should seek to fill in future work.
REWS genetic discrimination
This workshop will review progress on the perspective article and findings from the Delphi study and further explore the topic of stigmatisation at the level of population groups.
VCF 4.4 release candidate 2 public feedback
The upcoming VCF version 4.4 overhauls how structural variants and copy number variants are handled and introduces support for STRs and VNTRs. This session will present an overview and justification for all changes. This public presentation of the draft VCFv4.4 specifications gives the public a final chance to provide feedback and request changes before the specification is finalised.
QC of WGS study group
Working meeting to continue progress on the development of standardised quality control metrics and reference implementations. Preparing for formal proposal to the GA4GH Steering Committee.
Best practices development
This session will provide an opportunity for you to review best practices that have been gathered so far, brainstorm ways to apply them to your own contexts, and identify gaps where best practices are still needed. It will also feature a walkthrough of the interactive best practices platform on which the EDI Advisory Group has been working.
Data access requests: where can we standardise?
What do data access committee members want to ask from data access applicants? This session hopes to pick up on several discussions and efforts across GA4GH, including the Ethical Provenance Toolkit work, DACReS, and the Computable Cohorts DARathon. The purpose of this session is not to solve any or all of the challenges in this space but to agree on a set of tasks that the group believes could be achievable in a medium timeframe.
Schema registry service: exploring the uses of a standardised data model sharing API
Promoting schema alignment across multiple datasets owned and maintained by various institutes is necessary to perform large-scale federated search and analysis of biomedical data. In order to obtain this alignment, data providers must ensure their schemas are easily discoverable and accessible. Here, we propose the idea for a new GA4GH standard, a “Schema Registry Service API,” which provides standardised methods for investigating, obtaining, and sharing biomedical schemas with the research community. We envision this API being adopted by multiple data curation institutes to promote a decentralised network of schema repositories.
Crypt4GH: enhancing the use of encrypted data
Crypt4GH is the GA4GH’s encrypted file format standard, designed to enable secure distribution by allowing easy and quick custom encryption and direct random access to encrypted data. We are now looking to enable new use cases and better integration with other GA4GH standards.
The session aims to review metadata descriptions and organisational methods collected to date, identify overlaps between groups’ methods of metadata collection and organisation, and determine next steps towards potential minimal set of metadata standards.
Paediatric pharmacogenomics secondary findings workshop
This workshop will bring together the GA4GH Regulatory & Ethics community to review and discuss the points to consider for the Pediatric Pharmacogenomic Secondary Findings whitepaper currently in development.
Resources for getting started with GA4GH APIs
This session aimed to get a better understanding of the needs of projects that want to make data available by deploying implementations of GA4GH APIs as well as users that wish to perform tasks that access multiple sources via GA4GH APIs. The session included a presentation on the role and purpose of the GA4GH starter kit and an opportunity for users to identify areas where they need more support in implementing standards within their
Passports/AAI v1.2 Q&A
The updated specification has now been reviewed by four different reviewers from Verily, BioData Catalyst, ELIXIR Finland, and Datadex, independent of the development team. Most of their feedback has already been addressed and the finalised specification should be ready for release in weeks. This session provided attendees the opportunity to learn more about the specification changes.
Cloud Work Stream Session
Agenda & Slides • No Recording
The Cloud Work Stream will strategize with API leads and the community on its goals for 2023 for each API.
The GA4GH Cloud APIs in 2025: where do we want to be?
Agenda & Slides • No recording
In this session, the Cloud Work Stream will take out its crystal ball and look a few years ahead into the future of the Cloud APIs: How will each of the current APIs develop? How will they interact with each other? How will they interact with existing or developing standards outside the Cloud Work Stream or even outside of GA4GH? What gaps do we see? Do we need additional standards? And most importantly: What use cases and user stories do we envision? For this session, we will deliberately encourage participants to think outside of the constraints of implementation details, potential breaking changes, legal barriers or technical impracticability to share with us their “In a perfect GA4GH world, …” stories.
Beacon v2.0: migration workshop
The goal is to map out the upgrade path for migrating a version 1 Beacon to version 2, preferably using real world examples. As an alternative solution, we can discuss the technical feasibility of and interest in a “translation” middleware that would allow v1 Beacons to join a v2 Beacon network, without direct upgrade.
Beacon v2.0: “beaconise” your data type
Beacon version 2 is a much more powerful platform for data discovery due to its modular design, which allows almost any data type to be “beaconized”, including Structural Variant information and newer VCF formats. This is a working session where attendees can bring their own data types and discuss methods for “beaconizing” their data. The goal is to boost uptake of the Beacon v2 and demonstrate its potential to the community.
FASP builder session
This session aims to explore how LSG WS tools may make use of DRS objects and how to scale access of DRS and related topics, including bundling, bulk requests, metadata, and Passports.
GA4GH community updates
Discussion of the outcomes of the GA4GH Strategic Refresh and proposed updates to organisational structure, activities, and processes in 2023.
GKS maturity & VA knowledge model v1.0
This meeting aims to continue progress on integrating VA and VR subgroup outcomes into a single environment using consistent operational processes for defining the maturity of various components and areas being developed, as well as clarity around product releases. The long-term aim is also to incorporate the SA subgroup work into this environment as well.
DaMaSC: got schema?
No agenda & slides • Recording
Data model harmonisation is a perennial problem. Some community members will present their perspectives on this issue, which we hope will spark a discussion on what the challenges people see and how we might tackle them. This will develop into a more formal proposal for the DaMaSC group to build on.
Sequence Annotation integration with the GKS Work Stream
Sequence Annotation is developing a set of extensible data models for representing common genomic features (e.g. transcripts, genes, and regulatory regions). In this session, working group facilitators will present the draft data model and discuss how to integrate current progress with existing specifications (e.g. Value Objects/Value Object Descriptors), and develop future tools and processes in-sync with the rest of the GKS Work Stream.
Bad actors in research environments: who’s bad?
It is often stated that data use will be audited, but no practical ways exist to track or understand this use. “Controlled access” effectively transfers full control of data to an approved user, as their ability to analyse and download all or “interesting” parts of it is not restricted in any way. Exfiltration controls are currently rudimentary, usually relying on counting bytes of data transferred to stop attempts to copy an entire data set. This BARE workshop will brainstorm the behaviours of a bad actor if given access to a dataset, genomes in particular and discuss the potential ways this could be tracked/logged and detected better.