Global Alliance for Genomics and Health

ga4gh


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 Evaluating NA
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.