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.
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.
5 Nov 2021
This GA4GH Community Post is the sixth in our monthly series featuring individuals from across GA4GH. This month we are turning the spotlight on Mélanie Courtot!
This GA4GH Community Post is the sixth in our monthly series featuring individuals from across GA4GH. This month we are turning the spotlight on Mélanie Courtot! Mélanie is the metadata standards coordinator for the archival and infrastructure team at the European Bioinformatics Institute (EMBL-EBI) in Cambridge, UK. Her background is in structural biochemistry, computer science, and bioinformatics, with a focus on knowledge representation and semantic engineering. At EMBL-EBI, she designs tools to streamline multi-omics submissions and develops integrated metadata strategies across the institute’s archival resources and other projects such as FAIRPlus, focusing on data quality, semantic enrichment, and standardization for pharmaceutical and cohort data respectively. Dr. Courtot is passionate about translational informatics – building intelligent systems to gain new insights and impact human health. She co-leads the Data Use and Cohort Representation subgroups for the Global Alliance for Genomics and Health (GA4GH), as well as cohort harmonization efforts for Common Infrastructure for National Cohorts in Europe, Canada, and Africa (CINECA), the International HundredK+ Cohorts Consortium (IHCC), and the Davos Alzheimer’s Collaborative.
Why are interoperability and data sharing important to your work and career?
While we know how to generate a lot of data, without the means to integrate it across systems, understand and analyse it to derive new insights, we are effectively lost on a road in the middle of a desert with no map. Interoperable data allows me to build a network of paths, and data sharing means I can extend that network across a growing knowledge map. The intelligent systems I build can answer research questions of importance to human health, biology, and society.
What scientific discovery throughout history is most fascinating to you?
That is a hard question! If I had to pick only one, I would choose John Snow’s investigation of a Cholera outbreak in London in 1854. He collected data from local residents and identified a specific water pump as the source for the spread of the (at the time unknown) virus, and removing the manual pump handle has been credited with helping stop the outbreak. This story is fascinating as John Snow went against the state-of-the-art knowledge at the time (miasma rather than germ theory of disease), driven purely by his observation and the data. He collected and integrated information from residents, mapped the spread of disease, and based on his analysis, proposed an effective public health solution. This is not dissimilar to what GA4GH aims to do: bring data together to benefit and advance human health and why I am personally so inspired by the GA4GH vision.
What advice would you give to individuals seeking to get more involved with GA4GH?
I love the diversity of the GA4GH community. GA4GH brings together a wide range of profiles from junior to senior, across many countries, at different stages in their careers, and in many disciplines; we simply won’t develop global solutions without being global. It is truly inspiring and motivating to work with such a wealth of experience and expertise. When first joining, the sheer number of people and projects can be daunting, and I’m really happy to see the new efforts to ease onboarding being spearheaded by our Equity, Diversity, and Inclusion Advisory group. My advice to interested parties would be to take the plunge, and immerse themselves in some of the Work Streams. Do ask questions and contribute to discussions: new opinions and input are highly valued, and we’re a welcoming bunch.
How do you think genomic data standards will shape the world in 20 years?
I dream of a world where my children can get tailored, bespoke prevention for disease. I would love for their genomic data to be analysed and interpreted for treatment – we do some of this right now with breast cancer for example, but I’d love to see this broadly expanded. We still have a long way to go in understanding how the environment plays a role in health, and being able to integrate social, physical, and biological data to elucidate its effects on phenotypes. Providing the right info at the right time to the right individual will be critical in alleviating the burden of disease. As the technologies to generate data have made so much progress, I truly believe we are on the cusp of amazing discoveries, and I am proud to contribute to projects that will shape the future of mankind.