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)

Security/regulation/ethics
Policy tool

Aims to provide guidance for detecting intentional misuse of life science data in controlled environments

Data Security Work Stream
Study group

Cohort Representation

Genomic/phenotypic/clinical data representation
Data model or ontology

Aims to create a standard or set of guidelines to computationally describe a cohort and query it across a network

Clinical & Phenotypic Data Capture (Clin/Pheno) Work Stream, Discovery Work Stream
Study group

Pharmacogenomics Data Standardisation

Genomic/phenotypic/clinical data representation
Data model or ontology

Aims to develop a pharmacogenomics data standard to address translational gaps across disparate health systems and enable equitable clinical decision support

Study group

Risk Assessment Methodology for Software Stacks

Security/regulation/ethics
Technical implementation guidance

Aims to provide a risk assessment framework for software stacks

Data Security Work Stream
Study group

Sequence Annotation (SA)

Genomic/phenotypic/clinical data representation
Data model or ontology

Aims to develop a flexible, common model for describing genomic features

Genomic Knowledge Standards (GKS) Work Stream, Large-Scale Genomics (LSG) Work Stream
Study group

Join a Study Group

Reach out to the staff contact listed on each Study Group page. Or sign up for a Work Stream below, ticking the box for any Study Groups of interest.