About us
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.
The GA4GH Council, consisting of the Executive Committee, Strategic Leadership Committee, and Product Steering Committee, guides our collaborative, globe-spanning alliance.
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 a number of 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.
Find out what’s happening with up to the minute meeting schedules for the GA4GH community.
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.
Want to advance both your career and responsible genomic data sharing at the same time? See our open leadership opportunities.
Join our international team and help us advance genomic data use for the benefit of human health.
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.
Be the first to hear about the latest GA4GH products, upcoming meetings, new initiatives, and more.
Questions? We would love to hear from you.
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.
Check out our videos, then subscribe to our YouTube channel for more content.
View the latest GA4GH updates, Genomics and Health News, Implementation Notes, GDPR Briefs, and more.
Discover all things GA4GH: explore our news, events, videos, podcasts, announcements, publications, and newsletters.
This year, the 2021 GA4GH Connect meeting was held entirely virtually in response to global health concerns related to COVID-19. The meeting focused on two major areas: (1) collaboration across Work Streams and (2) development of the 2020 GA4GH Strategic Roadmap.
Slides | Recording
During Opening Remarks, participants received an overview of each Work Stream, along with their goals for the meeting. Initiatives external to GA4GH — including the Medical Genome Initiative, the Human Pangenome Reference Consortium, and the International Hundred-thousand Cohorts Consortium — also presented opportunities to collaborate with GA4GH.
VRS 1.3 Planning and Implementation Guidelines
Agenda & Slides | Recording
In this session, the VRS team shared a progress report and discussed future plans. The team focused on key challenges and solutions for data exchange with VRS, using examples from VICC and ClinGen.
Genetic Discrimination Observatory
Agenda & Slides | Recording
In this session, collaborators discussed how the Genetic Discrimination Observatory (GDO) — a global initiative represented in more than 21 countries — can contribute to GA4GH.
Cloud Work Stream
Agenda & Slides | Recording
The Cloud Work Stream gathered together to hear updates from Driver Projects and discuss challenges in implementing GA4GH cloud standards.
Data Access Committee Review Standards (DACReS)
Agenda & Slides | Recording
Participants from the Regulatory & Ethics Work Stream (REWS) and the Data Use & Researcher Identities (DURI) Work Stream met to discuss progress on a new deliverable, the Data Access Committee Review Standards (DACReS), and to actively draft several key sections of the standard.
VCF/VRS/refget Alignment Meeting
Agenda & Slides | Recording
In this session, collaborators from the Large Scale Genomics (LSG) and Genomic Knowledge Standards (GKS) Work Streams aimed to identify barriers preventing interoperability between VCF, refget, and the Variation Representation Specification (VRS).
Federated Analysis Systems Project (FASP)
Agenda & Slides | Recording
In this session, three collaborators shared use cases for the Federated Analysis Systems Project (FASP). The group also discussed future goals and how to make it easier for new people to get involved.
Variant Annotation
Agenda & Slides | Recording
The Variant Annotation team discussed the plan to deliver a v0 specification for a Variant Annotation standard.
Regulatory & Ethics Work Stream
Agenda & Slides | Recording
The Regulatory & Ethics Work Stream (REWS) heard updates from Driver Projects and collected information on the implementation of REWS policy frameworks and tools.
Discovery Work Stream
Agenda & Slides | Recording
The Discovery Work Stream shared product updates and their roadmap for 2021. The team also discussed alignment of Discovery products, heard from Driver Projects, and collaborations with other Work streams.
Large Scale Genomics Work Stream
Agenda & Slides | Recording
The Large Scale Genomics (LSG) Work Stream shared updates from LSG projects, including file formats, htsget, refget, RNAget, Sequence Annotation, and Crypt4GH. The Work Stream also discussed the future of VCF project and other future plans
Beacon v2
Agenda & Slides | Recording
The Beacon team discussed key updates and features that will be incorporated into the v2.0 release. These include more robust filtering, the representation of structural variants, and a cohort model for Beacon.
Key Management in the Cloud
Agenda & Slides | Recording
The Crypt4GH team discussed ways to enable Crypt4GH-encrypted files to be processed in the cloud natively, ideally with standards developed by the GA4GH Cloud Work Stream.
Phenopackets and VA/VR Integration
Agenda & Slides | Recording
The Clinical and Phenotypic Data Capture (Clin/Pheno) and Genomic Knowledge Standards (GKS) Work Stream met to define the scope and requirements for GKS standards within the Phenopacket schema.
Regulatory & Ethics Work Stream
Agenda & Slides | Recording
The Regulatory & Ethics Work Stream heard from Driver Projects and received updates on ongoing projects, including the Genetic Discrimination Observatory (GDO), Data Access Committee Review Standards (DACReS), and Consent Toolkit.
REWS Return of Results Policy
Agenda & Slides | Recording
The Regulatory & Ethics Work Stream (REWS) met to discuss progress on the Policy on Clinically Actionable Genomic Research Results, including points of contention and other open questions.
EDI Workshop: Building a Diverse and Inclusive GA4GH
Agenda & Slides | Recording
At the EDI Workshop, the team presented the system of EDI initiatives within GA4GH. These include an Onboarding program to welcome newcomers, an initiative to encourage deeper engagement within the Work Streams, and a methods for integrating EDI into the standards development process.
DRS & Passports Alignment
Agenda & Slides | Recording
The Data Repository Service (DRS) and Passports team discussed ways to integrate DRS into the Passports specifications, and the potential changes needed to support this initiative.
Phenopackets & Pedigree Integration with Beacon and Data Connect (formerly Search) APIs
Agenda & Slides | Recording
The Clinical & Phenotypic Data Capture Work Stream met with the Discovery Work Stream to discuss integration of their APIs. The teams provided an overview of Phenopackets, Pedigree, Beacon, and Data Connect, and discussed potential approaches for integrating the standards.
Data Security: Federated Analytics and Cloud Security
Agenda & Slides | Recording
The Data Security and Cloud Work Streams discussed the current landscape of data analysis in the cloud. As computing platforms process highly sensitive data, they are moving from centralized to decentralized architectures to deal with privacy requirements. The group discussed how the GA4GH Cloud APIs must evolve to follow this trend, and key considerations that the APIs must take into account.
Sequence Annotation
Agenda & Slides | Recording
The Large Scale Genomics (LSG) and Genomic Knowledge Standards (GKS) Work Streams met to discuss the creation of a Sequence Annotation standard. The group brainstormed what features are needed and how to describe them.
DRS Alignment with Beacon and Data Connect (formerly Search)
Agenda & Slides | Recording
The Cloud and Discovery Work Streams met to discuss how the Data Repository Service (DRS) API can align and integrate with the Beacon and Data Connect APIs.
Schemablocks
Agenda & Slides | Recording
Contributors met to discuss Schemablocks, an effort to create a “super ontology reference” that spans across GA4GH Work Streams and products. The group discussed use cases from Data Connect (formerly Search) and Phenopackets.
Data Security Work Stream
Agenda & Slides | Recording
The Data Security Work Stream met to discuss ongoing projects, including the development of a Breach Response protocol, guidelines for federated analytics in the cloud, and malfeasance rules.
Slides | Recording
During the Report Backs, each session shared their key accomplishments from the meeting and next steps.