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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing : implications for future testing

dc.contributor.authorHocking, Lynne
dc.contributor.authorAndrews, Claire
dc.contributor.authorArmstrong, Christine
dc.contributor.authorAnsari, Morad
dc.contributor.authorBaty, David
dc.contributor.authorBerg, Jonathan
dc.contributor.authorBradley, Therese
dc.contributor.authorClark, Caroline
dc.contributor.authorDiamond, Austin
dc.contributor.authorDoherty, Jill
dc.contributor.authorLampe, Anne
dc.contributor.authorMcGowan, Ruth
dc.contributor.authorMoore, David J.
dc.contributor.authorO'Sullivan, Dawn
dc.contributor.authorPurvis, Andrew
dc.contributor.authorSantoyo-Lopez, Javier
dc.contributor.authorWestwood, Paul
dc.contributor.authorAbbott, Michael
dc.contributor.authorWilliams, Nicola
dc.contributor.authorScottish Genomes Partnership
dc.contributor.authorAitman, Timothy J.
dc.contributor.authorMiedzybrodzka, Zosia
dc.date.accessioned2023-07-27T23:07:13Z
dc.date.available2023-07-27T23:07:13Z
dc.date.issued2023-02-01
dc.identifier223256723
dc.identifierfdaf659f-f2d0-4948-926b-a84f060b003a
dc.identifier36474026
dc.identifier85143493136
dc.identifier.citationHocking , L , Andrews , C , Armstrong , C , Ansari , M , Baty , D , Berg , J , Bradley , T , Clark , C , Diamond , A , Doherty , J , Lampe , A , McGowan , R , Moore , D J , O'Sullivan , D , Purvis , A , Santoyo-Lopez , J , Westwood , P , Abbott , M , Williams , N , Scottish Genomes Partnership , Aitman , T J & Miedzybrodzka , Z 2023 , ' Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing : implications for future testing ' , European Journal of Human Genetics , vol. 31 , no. 2 , pp. 231-238 . https://doi.org/10.1038/s41431-022-01226-3en
dc.identifier.issn1018-4813
dc.identifier.urihttp://aura-test.abdn.ac.uk/handle/2164/19687
dc.descriptionAcknowledgements This study would not be possible without the families, patients, clinicians, nurses, research scientists, laboratory staff, informaticians and the wider Scottish Genomes Partnership team to whom we give grateful thanks. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health). The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and The Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure.en
dc.format.extent8
dc.format.extent1232105
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Human Geneticsen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectDiagnostic markersen
dc.subjectgenetic testingen
dc.subjectHealth policyen
dc.subjectR Medicineen
dc.subject.lccRen
dc.titleGenome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing : implications for future testingen
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Health Economics Research Uniten
dc.contributor.institutionUniversity of Aberdeen.Centre for Health Data Scienceen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.description.statusPeer revieweden
dc.identifier.doihttps://doi.org/10.1038/s41431-022-01226-3
dc.identifier.vol31en
dc.identifier.iss2en


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