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.
When a doctor worries their patient might have a genetic disease, they can test a person’s genome to find differences (variants) which might cause the disease. The sheer number of variants a person has — around 5 million on average — presents a significant challenge in finding out which variants may impact their clinical care. Even computers struggle to run searches for clinically-important variants because there is no standard language for describing the evidence needed.
The Genomic Knowledge Standards (GKS) Work Stream works to define a common language for computers to describe variants — and the important biomedical knowledge associated with them — that may affect clinical care. As a result, GKS makes it easier for laboratories, researchers, and hospitals to find this information and improve patient health outcomes.
Subscribe to receive meeting invitations and real-time announcements.
Aims to develop a data model (and related tools) for categorical variants in genomic knowledge-bases.
Aims to develop a flexible, common model for describing genomic features
Aims to define a modelling framework and machine-readable schema to represent statements of knowledge about genetic variations
Used by computers to structure and exchange information about variants
Describes a set of quality control metrics and their detailed definitions to facilitate exchange of results across initiatives
Dive deeper into our Work Stream! GKS creates standards to exchange reference genomic information through schemas, APIs, and software. The Work Stream has developed products to unambiguously represent variation and reference genomic sequences. Knowledge linked to variants can be exchanged through GKS products, and wider efforts will expand the Work Stream’s efforts to other important genomic landmarks, such as genes. Clear genomic representation and annotation improve analyses and enable diagnostic laboratories, electronic health records, research institutions, and knowledge bases to compare results.
CatVar meets biweekly, alternating between the first Wednesday of the month and the 3rd Tuesday of the Month.
CatVar meets biweekly, alternating between the first Wednesday of the month and the 3rd Tuesday of the Month.
This Study Group meets to discuss data standardisation and storage in the field of pharmacogenetics, and explores ways GA4GH might be able to help.
Working meeting to describe genomic features including transcripts, genes, regulatory elements, and related regions of interest, Sequence Annotation is creating an expandable, shared model
This group meets to tackle the problem of representing structural variations in sequenced DNA.
This meeting will focus on the VA roadmap and will attempt to get feedback from interested Driver Projects and team members.
This working meeting focused on implementation support aims to create cloud-based services and tools for generating, transforming, and validating content using the GKS specifications.
This working meeting focused on implementation support aims to create cloud-based services and tools for generating, transforming, and validating content using the GKS specifications.
Meets on the third Monday of each month.