The Global Alliance for Genomics and Health (GA4GH) (Rehm et al., 2021) aims to bring together professionals from around the world to establish, maintain and develop standards, policies and frameworks to ensure that the most value can be derived from human genomics data to accelerate advances in human health.
The community is open to anyone to become involved in or provide feedback on standards.
Working groups have varied meeting schedules. Hybrid working meetings, known as ‘Connect’ meetings, are held twice a year. A plenary meeting is held annually which gives a good overview of all the current activities across the organisation. Recordings of these events are put on their YouTube channel.
Highlighted GA4GH Standards
An overview of selected GA4GH data standards can be reviewed below, see GA4GH website for all standards.
- Passports - field guide entry
- Beacon v2 - field guide entry
- Workflow Execution Service (WES) - field guide entry
- Variant Representation (VRS) - field guide entry
- Phenopackets - field guide entry
- Data Use Ontology (DUO) - field guide entry
- htsget - field guide entry
- Data Repository Service (DRS) - field guide entry
Relevant tools and resources
Skip tool table| Tool or resource | Description | Related pages | Registry |
|---|---|---|---|
| Beacon v2 | API framework and data model for cross-cohort searching. | How to add to and edit... Beacon | Standards/Databases Publication |
| Data Repository Service (DRS) | GA4GH standard API for accessing and retrieving data files | ||
| Data Use Ontology (DUO) | GA4GH standard ontology for describing access and use restrictions on datasets | Publication | |
| htsget | GA4GH standard protocol for securely streaming genomic data | Publication | |
| Passports | GA4GH open standard to encode data access permissions of users | Publication | |
| Phenopackets | GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. | EGA | Publication |
| Variant Representation (VRS) | GA4GH standard for representing genomic variants | Publication | |
| Workflow Execution Service (WES) | GA4GH standard protocol for sending workflows to compute |
Editor
Australian BioCommons / University of Melbourne