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Authors
Ellingford, Jamie M.
Ahn, Joo Wook
Bagnall, Richard D.
Baralle, Diana
Barton, Stephanie
Campbell, Chris
Downes, Kate
Ellard, Sian
Duff-Farrier, Celia
FitzPatrick, David R.
Greally, John M.
Ingles, Jodie
Krishnan, Neesha
Lord, Jenny
Martin, Hilary C.
Newman, William G.
O’Donnell-Luria, Anne
Ramsden, Simon C.
Rehm, Heidi L.
Richardson, Ebony
Singer-Berk, Moriel
Taylor, Jenny C.
Williams, Maggie
Wood, Jordan C.
Wright, Caroline F.
Harrison, Steven M.
Whiffin, Nicola http://orcid.org/0000-0003-1554-6594
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Funding
Funding for this research was provided by:
Wellcome Trust (220134/Z/20/Z, 200990/Z/16/Z)
Rosetrees Trust (H5R01320)
National Institute for Health Research (RP-2016-07-011, IS-BRC-1215-20007)
Medical Research Council
National Health and Medical Research Council (#1162929)
National Human Genome Research Institute (U01HG011755, U24HG006834)
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Article History
Received: 9 February 2022
Accepted: 16 June 2022
First Online: 19 July 2022
Declarations
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: This work used the Genomics England 100,000 Genomes Project dataset (East of England - Cambridge South Research Ethics Committee: 14/EE/1112). All patients included in this study provided written consent for genomic analysis and all investigations were conducted in accordance with the tenets of the Declaration of Helsinki.
: Written consent was obtained from the patient with the <i>CTFR</i> variant to include this in the example variant curation section of the manuscript. No other patient-specific information is included.
: AODL is a paid member of the Scientific Advisory Board of Congenica. SMH is a paid employee of Ambry Genetics. All other authors declare that they have no competing interests.
