An overview of selected GA4GH data standards, see GA4GH website for all standards.
| Standard | Description | Workstream | version / status | docs | github | publication | other resources |
|---|---|---|---|---|---|---|---|
| Phenopackets | Define and share individual characteristics, demographics and phenotypes in a standard format | Clin/Pheno | 2.0.0 | Jacobsen et al. 2022 Ladewig et al. 2022 |
ISO | ||
| Beacon | Query across cohort, individual and variant metadata | Discovery | 2.0.0 | Rambla et al. 2022 Rueda et al. 2022 |
Beacon RI | ||
| Pedigree | Characterise familial relationships | Clin/Pheno | under review | ||||
| VRS Variation representation | Characterise variants in a standard format. | Genomic Knowledge Standards | 1.2 | Wagner et al. 2021 | vrs-python | ||
| DRS Data repository service | Protocol for accessing data files | Cloud | 1.2.0 | ||||
| WES Workflow Execution Service | API to enable users to submit workflow requests to workflow execution systems | Cloud | 1.0.1 | wes starter kit | |||
| Passports | Protocol for defining tokens for data access | DURI | 1.2 | Voisin et al. 2021 | ui starter kit broker starter kit |
||
| DUO: Data Use Ontology | Translates consent form clause to machine readable ontology | DURI | 2021-02-23 | Lawson et al. 2021 | OLS |
Editor
Australian BioCommons / University of Melbourne