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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Browse implementations of GA4GH products. Learn how they solve real problems for organisations around the world.
The Researcher Workbench is a cloud-based platform where registered researchers can access Registered and Controlled Tier data. Its powerful tools support data analysis and collaboration. Integrated help and educational resources are provided through the Workbench User Support Hub.
The International Cancer Genome Consortium Accelerating Research in Genomic Oncology (ICGC ARGO) aims to uniformly analyse specimens from 100,000 donors with high-quality clinical data in order to address outstanding questions that are vital to the quest to defeat cancer.
Australian Genomics has tools to support storage, access, and sharing of its genomic datasets for secondary research use. They include a web-based platform for dynamic consent and data sharing preferences (CTRL), a cloud-based Genomic Data Repository (GDR) that ingests, stores, and provides access to data, and a data release coordinator system (Elsa) to streamline data sharing.
BBJ is of the three major biobanks in Japan managed by the AMED BioBank Japan Project for Genomic and Clinical Research. It has collected DNA, serum, and clinical information from more than 270,000 patients nationwide, and thus is regarded as one of the largest disease biobanks in the world.
BRH is an international cloud-based federated system for managing, analysing, and sharing patient data for research purposes, while allowing each separate resource to operate their component based upon their own governance rules and data structure.
Information drawn from multiple databases — which have been intelligently merged together — provides researchers with a set of BRCA variations and annotations that is as comprehensive as possible.
The CanDIG v2 project is a collection of heterogeneous services designed to work together to facilitate end-to-end data flow for genomic data.
Funded by the National Institutes of Health (NIH), ClinGen is dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
cwl-WES (formerly: WES-ELIXIR) is a Flask/Gunicorn application that makes use of Connexion to implement the GA4GH WES OpenAPI specification. cwl-WES enables clients and users to execute CWL workflows in the cloud via an execution backend that is compatible with the GA4GH Task Execution Service (TES) — for example, TESK or Funnel. Workflows can be sent for execution, previous runs can be listed, and the status and run information of individual runs can be queried. The service leverages cwl-tes to interpret CWL workflows, break them down into individual tasks, and emit GA4GH TES-compatible HTTP requests to a configured TES instance. Access to endpoints can be configured to require JSON Web Token-based access tokens, such as those issued by ELIXIR AAI. Run information is stored in a MongoDB database.
The platform is a federated ecosystem in which resources are enhanced to be amenable to rare disease research, and made FAIR: findable, accessible, interoperable, and reusable. Data stay at the source level but can be queried remotely. As an ecosystem, multiple query points will be possible, allowing for sending interrogations from one resource to others. Thus, federated discovery, query, and analysis are made possible, preserving patient privacy and respecting access conditions of each resource.
BioContainers is based on the popular frameworks Conda, Docker, and Singularity. This community-driven project provides the infrastructure and basic guidelines to create, manage, and distribute bioinformatics packages (e.g Conda) and containers (e.g Docker, Singularity).
A multi-cloud computing infrastructure allows life scientists within and beyond the ELIXIR network to run large-scale data analysis workloads in a federated network of ELIXIR compute and storage nodes.
The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of personally-identifiable genetic, phenotypic, and clinical data generated for the purposes of biomedical research projects or in the context of research-focused healthcare systems.
The Beacon Network search bar is a simple form with two options: assembly and variant. The assembly can be selected from the dropdown menu on the left side. The search bar then takes the desired variant information as a search term which will be sent to Beacons in a structured manner.
The EpiShare Platform builds GA4GH tools and standards and other online resources. It aims to create a web resource to make epigenomic data more easily discoverable and to enable the launch of multi-omics analyses on these controlled-access datasets at their storage locations.
The Federated EGA provides a network of connected resources to enable transnational discovery of and access to human data for research while also respecting jurisdictional data protection regulations. By providing a solution to emerging challenges around secure and efficient management of human “omics” and associated data, the Federated EGA fosters data reuse, enables reproducibility, and accelerates biomedical research.
The secure Research Environment provides approved researchers with a range of open source tools, shared storage drives, databases, and research platforms linking genomic data to a rich set of clinical, phenotypic, and longitudinal data.
The HCA Data Portal stores and provides single-cell data contributed by labs around the world. Anyone can contribute data, find data, or access community tools and applications.
The Life Science Login enables researchers to use their home organisation credentials or community or other identities (e.g. Google, Linkedin, LS ID) to sign in and access data and services they need. It also allows service providers (both in academia and industry) to control and manage access rights of their users and create different access levels for research groups or international projects.
Medical Genomics Japan Variant Database (MGeND) aims to provide integrated information about genomic variations and clinical characteristics, and improve clinical interpretation by cross-sectional studies on cancer, rare/intractable disease, infectious disease, dementia, and hearing loss. This database contains genetic variations and their frequencies with supporting evidence and clinical information that have been provided from research institutions and cooperating hospitals, which were selected for the Integrated Database of Clinical and Genomic Information programme supported by the Japan Agency for Medical Research and Development (AMED).
MSSNG (pronounced “missing”) is a groundbreaking collaboration between Autism Speaks, Verily, DNAstack, Hospital for Sick Children (SickKids), and the research community to create the world’s largest whole-genome-sequencing database on autism with deep phenotyping.
NGIS provides systems to enable the full end-to-end path from test ordering to interpretation and reporting for the whole-genome-sequencing component of the Genomic Medicine Service for England.
The vision of the Data Commons Framework is to make it easier to develop, operate, and interoperate data commons, data clouds, knowledge-bases, and other resources for managing, analysing, and sharing research data that can be part of a large data commons ecosystem.
The NIH Cloud Platform Interoperability (NCPI) effort aims to facilitate data availability by encouraging the adoption of common technical standards across various cloud platforms. This approach will enable researchers to conveniently access data from multiple platforms using a single sign-on system, streamlining the processes of data discovery, access, and analysis. NCPI works with partners to pilot and adopt GA4GH standards for data access, portable analysis workflows and tools, authorisation, and interoperability. The “Interoperability Projects” use cases are real-world examples from within the U.S. National Institutes of Health and partner organisations.
BDC is a cloud-based ecosystem providing tools, applications, and workflows in secure workspaces that increases access to U.S. National Heart, Lung, and Blood Institute (NHLBI) funded datasets and innovative data analysis capabilities.
This is a full implementation of the DRS v1.1 standard with support for persistent identifiers. The open-source DRS server follows the Gen3 implementation. Gen3 is a GA4GH-compliant, open-source platform for developing framework services and data commons. Data commons accelerate and democratize the process of scientific discovery, especially over large or complex datasets. Gen3 is maintained by the Center for Translational Data Science at the University of Chicago. https://gen3.org
The Exomiser is a Java program that functionally annotates variants from whole-exome-sequencing data in VCF v4.0 format. The functional annotation is performed with Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates.
TogoVar is a comprehensive Japanese genetic variation database that has collected and organised genome sequence differences between individuals (variants) in the Japanese population and disease information associated with them.
The project conducts a long-term health study of 150,000 residents living in communities which suffered major damage from the Great East Japan Earthquake and reports the findings to the respective residents with their personal information. It also establishes a system of dispatching physicians on a rotation basis to healthcare providers in the region.
This search interface for cancer variant interpretations is assembled by aggregating and harmonising across multiple cancer variant interpretation knowledge-bases.
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