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Authors
Wedd, Laura
Hort, Yvonne
Patel, Chirag
Sayer, John A. https://orcid.org/0000-0003-1881-3782
Rius, Rocio https://orcid.org/0000-0002-9871-3126
Mallett, Andrew J. https://orcid.org/0000-0002-8752-2551
Cottle, Denny L.
Smyth, Ian M.
Furlong, Timothy
Shine, John
Mallawaarachchi, Amali https://orcid.org/0000-0002-1229-1701
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Funding
Funding for this research was provided by:
Royal Australasian College of Physicians
The Sylvia and Charles Viertel Charitable Foundation The Lewis Foundation New South Wales Health Early-Mid Career Grant Program
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Article History
Received: 30 March 2025
Revised: 28 July 2025
Accepted: 11 September 2025
First Online: 26 September 2025
Competing interests
: The authors declare no competing interests.
: Ethics approval for the Garvan cohort was obtained from RPAH Human Research Ethics Committee (HREC/18/RPAH/726) and for the KidGen Cohort from the Royal Children’s Hospital and Melbourne Health Human Research Ethics Committees (HREC/83945/RCHM-2022; HREC/16/MH/251). All participants in the Genomics England 100,000 Genomes Project provided written consent to access their anonymized clinical and genomic data for research purposes. The project model and its informed consent process have been approved by the National Research Ethics Service, Research Ethics Committee for East of England (Cambridge South Research Ethics Committee).
