Clinical information is the lens through which we interpret genomic data. It is important that we capture clinical data that is high quality, relevant and accurate in order to optimise genomic data analysis, and that we do so in a format that is machine-readable and interoperable to enable scalability and data sharing.
These clinical data collection instruments have been developed and used by our rare disease clinical flagship studies.
Additional resources such as the supporting instruments in our study database, REDCap, are available upon request.

Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
Current version: 24 September 2019
Updated: 24 September 2019
- Download KidGen renal genetics optimal clinical dataset.
- Download KidGen ‘HIDDEN’ renal genetics (end-stage kidney disease) optimal clinical dataset.
Current version: 24 September 2019
Updated: 24 September 2019
- Download Cardiovascular Genetic Disorders – Primary Arrhythmia optimal clinical dataset.
- Download Cardiovascular Genetic Disorders – Cardiomyopathies optimal clinical dataset.
- Download Cardiovascular Genetic Disorders – Congenital Heart Disease optimal clinical dataset
Current version: 24 September 2019
Updated: 24 September 2019