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Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results

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dc.contributor.authorKerr, Shona M
dc.contributor.authorKlaric, Lucija
dc.contributor.authorMuckian, Marisa D
dc.contributor.authorJohnston, Kiera
dc.contributor.authorDrake, Camilla
dc.contributor.authorHalachev, Mihail
dc.contributor.authorCowan, Emma
dc.contributor.authorSnadden, Lesley
dc.contributor.authorDean, John
dc.contributor.authorZheng, Sean L
dc.contributor.authorThami, Prisca K
dc.contributor.authorWare, James S
dc.contributor.authorTzoneva, Gannie
dc.contributor.authorShuldiner, Alan R
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.authorWilson, James F
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Medical Genetics Groupen
dc.contributor.institutionUniversity of Aberdeen.Molecular and Cellular Functionen
dc.contributor.institutionUniversity of Aberdeen.Aberdeen Cancer Centreen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.date.accessioned2025-08-25T14:08:01Z
dc.date.available2025-08-25T14:08:01Z
dc.date.issued2025-04-03
dc.descriptionThis 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.en
dc.description.statusPeer revieweden
dc.format.extent16
dc.format.extent192408
dc.identifier302754532
dc.identifier070a0afe-352c-467a-b386-909e077c44ec
dc.identifier40088892
dc.identifier105000075412
dc.identifier.citationKerr, 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.2025.02.018en
dc.identifier.doi10.1016/j.ajhg.2025.02.018
dc.identifier.iss4en
dc.identifier.issn0002-9297
dc.identifier.otherORCID: /0000-0003-2890-8136/work/181759609
dc.identifier.urihttps://hdl.handle.net/2164/25907
dc.identifier.vol112en
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Human Geneticsen
dc.subjectreturn of resultsen
dc.subjectactionable varianten
dc.subjectfounder effecten
dc.subjectexomesen
dc.subjectOrkneyen
dc.subjectShetlanden
dc.subjectR Medicine (General)en
dc.subjectQH426 Geneticsen
dc.subjectSupplementary Informationen
dc.subjectSupplementary Dataen
dc.subjectDASen
dc.subject.lccR1en
dc.subject.lccQH426en
dc.titleActionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of resultsen
dc.typeJournal articleen

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