About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Study Groups
Study Groups survey the landscape of the genomics and health community, define needs, and determine whether GA4GH can help.
When community members highlight a problem in genomics and health data use, GA4GH can form a Study Group to investigate the need and determine whether to develop a new product. In some cases, Study Groups may recommend updating an existing product or formally recognising work that has already taken place outside of GA4GH.
Study Group participants represent a broad cross-section of the community, including software developers, researchers, bioinformaticians, and clinicians. If a new product seems appropriate, many Study Group participants go on to lead the team that develops it.
Typical Study Group activities include:
- Defining a problem statement
- Performing landscape analysis
- Developing use cases
- Engaging with stakeholders
Current Study Groups:
Bad Actors in Research Environments (BARE)
Aims to provide guidance for detecting intentional misuse of life science data in controlled environments
Categorical Variation (CatVar)
Aims to develop a data model (and related tools) for categorical variants in genomic knowledge-bases.
Cohort Representation
Aims to create a standard or set of guidelines to computationally describe a cohort and query it across a network
Data Model and Schema Consensus (DaMaSC)
Explores ways to facilitate interoperability across GA4GH products and Work Streams
Pharmacogenomics Data Standardisation
Aims to develop a pharmacogenomics data standard to address translational gaps across disparate health systems and enable equitable clinical decision support
Risk Assessment Methodology for Software Stacks
Aims to provide a risk assessment framework for software stacks
Sequence Annotation (SA)
Aims to develop a flexible, common model for describing genomic features