Allen, Sophie http://orcid.org/0000-0003-4928-2240
Garrett, Alice
Muffley, Lara http://orcid.org/0000-0002-3035-3339
Fayer, Shawn
Foreman, Julia
Adams, David J. http://orcid.org/0000-0001-9490-0306
Hurles, Matthew http://orcid.org/0000-0002-2333-7015
Rubin, Alan F. http://orcid.org/0000-0003-1474-605X
Roth, Frederick P.
Starita, Lea M.
Biesecker, Leslie G. http://orcid.org/0000-0002-0197-3811
Turnbull, Clare
Funding for this research was provided by:
Cancer Research UK (EDDPGM-Nov22/100004, C61296/A27223, C61296/A27223, EDDPGM-Nov22/100004)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (RM1 HG01046, R01 HG013025, RM1 HG01046, R01 HG013025, RM1 HG01046, RM1 HG01046, R01 HG013025)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
Wellcome Trust (WT223718/Z/21/Z)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (R01 HL164675)
Gouvernement du Canada | Canadian Institutes of Health Research (FDN159926)
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
U.S. Department of Health & Human Services | National Institutes of Health (HG200328-18, HG200359-15)
U.S. Department of Health & Human Services | National Institutes of Health
Article History
Received: 12 December 2023
Revised: 5 February 2024
Accepted: 8 February 2024
First Online: 4 March 2024
Competing interests
: LB is a member of the Illumina Medical Ethics Board, receives honoraria from Wolters-Kluwer, and receives research support from Merck. FPR is an advisor and/or shareholder for SeqWell, Ranomics, Biosymetrics, and Constantiam Biosciences, and has received research support from Biogen, Beam Therapeutics, Deep Genomics, and Alnylam.