To support researchers, Australian Genomics has developed guidelines and a suite of templates specifically tailored for genomics research projects.
The guidelines focus on genomics-specific considerations and best practices during the pre- and post-recruitment phases of database development.
The demo highlights key aspects of genomics research projects, based on insights from previous Australian Genomics studies and other supported projects, including:
- Participant information: contact details, ethnicity, and phenotypic features
- Family history
- e-Consent
- Genomic testing, investigations, and results
Standardised terminology
To ensure harmonisation of data and improve data consistency, interoperability, and overall project outcomes, the demo promotes the use of standardised terminology across genomics research projects. Key standards include:
- Human Phenotype Ontology (HPO)
- Gene Names
- OMIM codes
- Human Ancestry Ontology
Access
The Study Database Guidelines and a demonstration of the participant database template can be found here: