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Research projects using our data

The Australian Genomics research Flagships have collected vast amounts of genomic and clinical data across rare disease, cancer and carrier screening projects. Participants in the Australian Genomics Flagships were given the option to consent to share their data for secondary research purposes.

This page provides a searchable list of all ethically approved research projects that have received Australian Genomics participant data. The Australian Genomics Data Access Committee reviewed each of the research projects listed. If you have questions, contact ag-datarequest@mcri.edu.au.

Projects using our data

Accelerated gene identification for families with rare genetic disorders

Primary organisation: Murdoch Children's Research Institute (MCRI)

Principal Investigator: Professor Paul Lockhart

Australian Genomics and RCPA Quality Assurance Program: developing an interpretive module for genomic testing for Childhood Syndromes and ID (Medicare item: 73358)

Primary organisation: The Children's Hospital at Westmead

Principal Investigator: A/Professor Bruce Bennetts

The Australian Undiagnosed Diseases Network (UDN-Aus): An internationally networked national approach for transforming diagnosis for individuals living with rare diseases

Primary organisation: Murdoch Children's Research Institute (MCRI)

Principal Investigator: Professor John Christodoulou

The KidGen National Kidney Genomics Program – improving diagnostic outcomes for Australian families with genetic kidney disease

Primary organisation: James Cook University (JCU)

Principal Investigator: Professor Andrew Mallet

Reproductive screening for non-syndromic hearing loss

Primary organisation: Murdoch Children's Research Institute (MCRI)

Principal Investigator: Professor Martin Delatycki

Evaluating the clinical utility of polygenic risk scores for inherited cardiac disease

Primary organisation: Institute for Molecular Bioscience, The University of Queensland

Principal Investigator: Dr Sonia Shah

Genomic Analysis of Inherited Cancers

Primary organisation: QIMR Berghofer Medical Research Institute (QIMR Berghofer)

Principal Investigator: Dr Nic Waddell

Kids Heart BioBank

Primary organisation: Victor Chang Cardiac Research Institute (VCCRI)

Principal Investigator: Professor Sally Dunwoodie

Molecular Mechanisms of Inherited Cardiomyopathies and Arrhythmias

Primary organisation: Victor Chang Cardiac Research Institute (VCCRI)

Principal Investigator: Professor Diane Fatkin
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Accessing Australian Genomics data

Plain language genomic test reports