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Authors
Wootton, Olivia
Campbell, Patrick
Richardson, Sarah
Lindsay, Sarah J.
Huang, Qin Qin
Delage, Erwan
Amanat, Sana
Wong, Hilary S.
Firth, Helen V.
Hurles, Matthew E.
Simpson, Michael A.
Radford, Elizabeth J.
Martin, Hilary C.
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Funding
Funding for this research was provided by:
Wellcome Trust (220540/Z/20/A, 220540/Z/20/A, 220540/Z/20/A, 220540/Z/20/A, 220540/Z/20/A, 220540/Z/20/A)
King's College London (EP/Y035216/1)
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Article History
Received: 9 July 2025
Accepted: 6 October 2025
First Online: 30 October 2025
Declarations
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: All data were collected with informed consent and in accordance with relevant guidelines and regulations. The authors declare that all procedures contributing to this work comply with the ethical standards of the Helsinki Declaration of 1975, as revised in 2008. The DDD study is approved by the UK Research Ethics Committee (10/H0305/83, granted by the Cambridge South Research Ethics Committee and GEN/284/12, granted by the Republic of Ireland Research Ethics Committee). The 100,000 genomes project was approved by the HRA Committee East of England – Cambridge South REC Ref 14/EE/1112. Data for the 100,000 Genomes Project is stored in the National Genome Research Library, which was approved by the East of England Cambridge Central Research Ethics Committee REC ref 20/EE/0035.
: Not applicable.
: M.E.H. is a cofounder of, consultant to and holds shares in Congenica, a genetics diagnostic company, and is also a consultant to AstraZeneca Centre for Genomics Research. The remaining authors declare that they do not have any competing interests.
