Global Alliance for Genomics and Health
Standards
The EGA is a long-standing supporter of the Global Alliance for Genomics & Health (GA4GH) to enhance responsible sharing of human genetic data through the development of interoperable global standards for human data access. The EGA is one of the founding GA4GH Driver Projects and has contributed to the development and implementation of several GA4GH standards and APIs.
Below is a list of the GA4GH standards and APIs that are currently available or planned for implementation at EGA.
| Technical Standards | Status | Implementation |
|---|---|---|
| Large Scale Genomics | ||
| Htsget API v1 | Production | API Documentation Source Code |
| Read File Formats (SAM/BAM/CRAM) | Production | Implementation Example of Usage |
| Variation File Formats (VCF/BCF) | Production | Implementation Example of Usage |
| Crypt4GH v1 | Production | Source Code |
| Refget API v1 | Evaluating | NA |
| RNAget API v1 | Evaluating | NA |
| Discovery | ||
| Beacon API v1 | Production | Web UI API |
| Beacon API v2 | Proof of Concept | Web UI API Source Code |
Service Info API v1 | In Development | NA |
| Service Registry API v1 | In Development | NA |
| Data Use & Researcher Identities | ||
| Data Use Ontology | Production | Documentation Example of Usage |
| Authentication & Authorization Infrastructure (AAI) | Production | API Documentation |
| GA4GH Passports v1 | Production | API Documentation |
| Cloud | ||
| Tool Registry Service API v1 | In Progress | NA |
| Data Repository Service API v1 | In Progress | NA |
| Workflow Execution Service API | Evaluating | NA |
| Genomic Knowledge Standards | ||
| Variation Representation v1 | In Progress | EGA team is contributing to including it in in Beacon v2 Specification and Elixir Reference Implementation |
| Clin/ Pheno Data Capture | ||
| Phenopackets v1 | Production | Included in Ongoing Submissions EGA team is contributing to including it in in Beacon v2 Specification and Elixir Reference Implementation |
Driver Project
The EGA, jointly coordinated by the EBI and the CRG, was announced, in 2017, to be one of the 15 Driver Projects for GA4GH. Driver Projects are international genomic data initiatives, focussed on real projects and challenges that will guide the development efforts in order to accelerate and enable completely responsible and standardized data sharing by 2022. All chosen Driver Projects make a cross-sectional effort by playing an important role across the different workstreams.
Thomas Keane, Jordi Rambla, and Dylan Spalding have been named Driver Project Champions for the EGA. All Driver Project Champions will be leading this ambitious initiative for the following years.
