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

Hocking, LynneAndrews, ClaireArmstrong, ChristineAnsari, MoradBaty, DavidBerg, JonathanBradley, ThereseClark, CarolineDiamond, AustinDoherty, JillLampe, AnneMcGowan, RuthMoore, David J.O'Sullivan, DawnPurvis, AndrewSantoyo-Lopez, JavierWestwood, PaulAbbott, MichaelWilliams, NicolaScottish Genomes PartnershipAitman, Timothy J.Miedzybrodzka, Zosia2022-12-062022-12-062023-02-01Hocking, 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/s41431-022-01226-31018-4813ORCID: /0000-0003-2890-8136/work/175113448https://hdl.handle.net/2164/19687Acknowledgements 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.81232105engSDG 3 - Good Health and Well-beingDiagnostic markersgenetic testingHealth policyR MedicineRGenome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing : implications for future testingJournal article10.1038/s41431-022-01226-3312