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Authors
Blakes, Alexander J. M.
Wai, Htoo A.
Davies, Ian
Moledina, Hassan E.
Ruiz, April
Thomas, Tessy
Bunyan, David
Thomas, N. Simon
Burren, Christine P.
Greenhalgh, Lynn
Lees, Melissa
Pichini, Amanda
Smithson, Sarah F.
Taylor Tavares, Ana Lisa
O’Donovan, Peter
Douglas, Andrew G. L.
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Whiffin, Nicola
Baralle, Diana
Lord, Jenny https://orcid.org/0000-0002-0539-9343
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Funding
Funding for this research was provided by:
National Institute for Health Research (RP-2016-07-011)
Wessex Medical Research
Wellcome Trust (220134/Z/20/Z)
Rosetrees Trust
Health Education England
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Article History
Received: 2 February 2022
Accepted: 13 July 2022
First Online: 26 July 2022
Declarations
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: The 100,000 Genomes Project Protocol has ethical approval from the HRA Committee East of England – Cambridge South (REC Ref 14/EE/1112). This study was registered with Genomics England under Research Registry Projects 143, 165, and 166. The Splicing and Disease study has ethical approval from the Health Research Authority (IRAS Project ID 49685, REC 11/SC/0269) and The University of Southampton (ERGO ID 23056), with informed consent given for splicing studies in a research context. This research conformed to the principles of the Helsinki Declaration.
: Not applicable. We present only de-identified data.
: The authors declare that they have no competing interests.
