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.
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28 Nov 2016
The Global Alliance for Genomics and Health (GA4GH) today announced a new Application Programming Interface (API) developed by the Global Alliance’s Data Working Group that will allow DNA data providers and consumers to better share information and work together on a global scale.
ONTARIO, CANADA — The Global Alliance for Genomics and Health (GA4GH) today announced a new Application Programming Interface (API) developed by the Global Alliance’s Data Working Group that will allow DNA data providers and consumers to better share information and work together on a global scale.
This new open source Genomics API , referred to as Version 0.5, is a standard, open tool promoting data interoperability, and will be part of a suite of Genomics APIs being developed by the Global Alliance. The API enables the interoperable exchange of information contained in DNA sequence reads across multiple organizations and on multiple platforms.
The new Genomics API is one of the first products to be developed and distributed by the Global Alliance for Genomics and Health, which was formed only one year ago and is made up of over 200 of the world’s leading biomedical research institutions, healthcare providers, information technology and life science companies, funders of research, and disease and patient advocacy organizations.
“This new Genomics API is an exciting step toward interoperability in genomic data. It advances the Global Alliance’s mission of enabling the sharing of genomic and clinical data to improve human health,” said David Haussler, Co-Chair of the Global Alliance’s Data Working Group and Scientific Director of the UC Santa Cruz Genomics Institute. “Because this new API lets researchers work consistently with genomic data across institutions and platforms, it will help realize the benefits that come from large-scale genomic data sharing, allowing us to find the needle in the haystack for patients with rare diseases.”
Promoting the Global Alliance’s goals of transparency and collaboration, this new Genomics API Version 0.5 uses an open development process to allow the wider bioinformatics community to participate. While the Data Working Group has a core team of active developers, all interested developers from any institution can further engage with this platform by exploring sample apps, building implementations from scratch or from existing samples, or by providing feedback on the API and its documentation. The interface is managed on GitHub..
The newly announced Genomics API Version 0.5 builds off of the successful Version 0.1, which was also developed by members of the Data Working Group and is in use by leading organizations, including the European Bioinformatics Institute (EMBL-EBI), the U.S. National Center for Biotechnology Information (NCBI), Google, Genome Savant, and Harvard Medical School’s Biomedical Cybernetics Laboratory, powering a growing community of applications. As analysis tools adopt the new API, researchers will be able to extend their own infrastructure to utilize cloud resources, such as those available from Amazon Web Services, Google Cloud Platform, and Microsoft Azure.
The GA4GH Genomics API is built on the file formats developed over the last five years for large-scale genomic sequencing projects, now also managed by the Global Alliance, but features cleaner models, with a modern, easy-to-use data description schema and a web-enabled interface.
“Modern DNA sequencing, when coupled with modern data and cloud technology, can lead to breakthroughs in understanding and improving human health. This new Genomics API is a big step forward,” said David Glazer, cochair of the Reads Task Team and Engineering Director for Google Cloud Platform and Google Genomics. “Google already supports Version 0.1 of the API, and we’ll be adding support for Version 0.5 soon, as well as continuing to contribute to the Data Working Group.”
“The Global Alliance is breaking new ground in combining genomic sequencing and clinical care. Amazon Web Services is proud to support these efforts, and help in defining new operating models, such as the latest Genomics API,” said Matt Wood, General Manager of Data Science, Amazon Web Services, Inc. “We view these new APIs as a vital component for collaboration and development of next-generation tools that can run cost-effectively at massive scale.”
“Genome sequencing is transitioning from being a powerful research tool to making an enormous impact in clinical diagnostics and care.” Said Dr. Richard Durbin, Acting Head of Computational Genomics at the Wellcome Trust Sanger Institute and leader of the Genome Informatics group. “This API from the Global Alliance Data Working Group will enable genomic data processing to move beyond research file formats into modern computing and data architectures, facilitating controlled data sharing and the effective use of these new technologies for both clinical and research benefit.”
“We are using the Global Alliance’s work to enable apps for the TBResist initiative that bridge from raw sequence data to clinically useful phenotypes,” said Professor Gil Alterovitz, a faculty at the Harvard Medical School and director of the Biomedical Cybernetics Laboratory. “Also, the Substitutable Medical Applications and Reusable Technology (SMART) Genomics platform is using the Global Alliance interface to enable interoperability between electronic medical record information (HL7) and raw genetic sequence information.”
Other Working Groups of the Global Alliance for Genomics and Health are currently identifying best practices to integrate genomic data into clinical practice, reaching agreement on security protocols, and developing a framework to address ethics and regulatory considerations.
The Global Alliance for Genomics and Health is an international, non-profit alliance formed to help accelerate the potential of genomic medicine to advance human health. Bringing together over 200 leading institutions working in healthcare, research, disease and patient advocacy, life science, and information technology, partners in the Global Alliance are working together to create a common framework of standards and harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical data. Learn more at: http://genomicsandhealth.org.