Kerr, Shona MKlaric, LucijaMuckian, Marisa DJohnston, KieraDrake, CamillaHalachev, MihailCowan, EmmaSnadden, LesleyDean, JohnZheng, Sean LThami, Prisca KWare, James STzoneva, GannieShuldiner, Alan RMiedzybrodzka, ZosiaWilson, James F2025-08-252025-08-252025-04-03Kerr, S M, Klaric, L, Muckian, M D, Johnston, K, Drake, C, Halachev, M, Cowan, E, Snadden, L, Dean, J, Zheng, S L, Thami, P K, Ware, J S, Tzoneva, G, Shuldiner, A R, Miedzybrodzka, Z & Wilson, J F 2025, 'Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results', American Journal of Human Genetics, vol. 112, no. 4, pp. 793-807. https://doi.org/10.1016/j.ajhg.2025.02.0180002-9297ORCID: /0000-0003-2890-8136/work/181759609https://hdl.handle.net/2164/25907This research has been conducted using the UKB Resource under application nos. 47602 and 19655. Emily Weiss and Reka Nagy assembled the Orkney pedigree, and Barbara Gray the Shetland pedigree, using records at the General Register Office, the Shetland Family History Society, and study information, building on earlier pedigree work by Ruth McQuillan and Jim Wilson. Sanger sequencing was performed by the technical services team at the MRC Human Genetics Unit. We thank the NHS Grampian clinical genetics team and the Viking Genes research team (in particular David Buchanan, Rachel Edwards, and Craig Sinclair) for their contributions to the implementation of the RoR process. Finally, we thank the people of the Northern and Western Isles for their involvement in and ongoing support of our research.16192408engreturn of resultsactionable variantfounder effectexomesOrkneyShetlandR Medicine (General)QH426 GeneticsSupplementary InformationSupplementary DataDASR1QH426Journal article10.1016/j.ajhg.2025.02.0181124