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Authors
Bird, Martin https://orcid.org/0000-0001-6837-6934
Tung, Chris Jyun-Peng https://orcid.org/0009-0004-6167-0822
Pittman, Alan M. https://orcid.org/0000-0002-8112-2987
Behr, Elijah R. https://orcid.org/0000-0002-8731-2853
Nohturfft, Axel https://orcid.org/0000-0001-9484-3209
Futema, Marta https://orcid.org/0000-0002-2120-2088
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Funding
Funding for this research was provided by:
St George’s University of London PhD studentship
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Article History
Received: 5 February 2025
Revised: 17 April 2025
Accepted: 2 June 2025
First Online: 24 July 2025
Competing interests
: The authors declare no competing interests.
: The 100KGP, launched in the UK in 2013, generated WGS data to provide molecular diagnosis to participants with rare diseases and cancers. The 100KGP was approved by East of England – Cambridge Central Research Ethics Committee red:20/EE/0035. Only participants who provided written informed consent for their data to be used for research were included in the analyses. The current project (RR123) has been approved by the Genomics England Clinical Interpretation Partnership (GeCIP) cardiovascular domain committee.
