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- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 9. |
- Astell, A. J., et al.
(författare)
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Developing a pragmatic evaluation of ICTs for older adults with cognitive impairment at scale : the IN LIFE experience
- 2022
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Ingår i: Universal Access in the Information Society. - Heidelberg, Germany : Springer. - 1615-5289 .- 1615-5297. ; 21:1, s. 1-19
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Tidskriftsartikel (refereegranskat)abstract
- Implementing information and communications technology (ICT) at scale requires evaluation processes to capture the impacton users as well as the infrastructure into which it is being introduced. For older adults living with cognitive impairment, thisrequires evaluation that can accommodate diferent levels of cognitive impairment, alongside input from family and formalcaregivers, plus stakeholder organisations. The European Horizon 2020 project INdependent LIving support Functions forthe Elderly (IN LIFE) set out to integrate 17 technologies into a single digital platform for older people living with cognitive impairment plus their families, care providers and stakeholders. The IN LIFE evaluation took place across six nationalpilot sites to examine a number of variables including impact on the users, user acceptance of the individual services andthe overall platform, plus the economic case for the IN LIFE platform. The results confrmed the interest and need amongolder adults, family caregivers, formal caregivers and stakeholders, for information and communications technology (ICT).Relative to the baseline, quality of life improved and cognition stabilised; however, there was an overall reluctance to payfor the platform. The fndings provide insights into existing barriers and challenges for adoption of ICT for older peopleliving with cognitive impairment.
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| 10. |
- Astell, A. J., et al.
(författare)
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Developing a pragmatic evaluation of ICTs for older adults with cognitive impairment at scale: the IN LIFE experience
- 2021
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Ingår i: Universal Access in the Information Society. - Heidelberg, Germany : Springer. - 1615-5289 .- 1615-5297.
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Tidskriftsartikel (refereegranskat)abstract
- Implementing information and communications technology (ICT) at scale requires evaluation processes to capture the impact on users as well as the infrastructure into which it is being introduced. For older adults living with cognitive impairment, this requires evaluation that can accommodate different levels of cognitive impairment, alongside input from family and formal caregivers, plus stakeholder organisations. The European Horizon 2020 project INdependent LIving support Functions for the Elderly (IN LIFE) set out to integrate 17 technologies into a single digital platform for older people living with cognitive impairment plus their families, care providers and stakeholders. The IN LIFE evaluation took place across six national pilot sites to examine a number of variables including impact on the users, user acceptance of the individual services and the overall platform, plus the economic case for the IN LIFE platform. The results confirmed the interest and need among older adults, family caregivers, formal caregivers and stakeholders, for information and communications technology (ICT). Relative to the baseline, quality of life improved and cognition stabilised; however, there was an overall reluctance to pay for the platform. The findings provide insights into existing barriers and challenges for adoption of ICT for older people living with cognitive impairment.
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