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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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| 7. |
- Roswall, N., et al.
(författare)
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Long-Term Exposure to Transportation Noise and Risk of Incident Stroke: A Pooled Study of Nine Scandinavian Cohorts
- 2021
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Ingår i: Environmental Health Perspectives. - : Environmental Health Perspectives. - 0091-6765 .- 1552-9924. ; 129:10
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Transportation noise is increasingly acknowledged as a cardiovascular risk factor, but the evidence base for an association with stroke is sparse. OBJECTIVE: We aimed to investigate the association between transportation noise and stroke incidence in a large Scandinavian population. METHODS: We harmonized and pooled data from nine Scandinavian cohorts (seven Swedish, two Danish), totaling 135,951 participants. We identified residential address history and estimated road, railway, and aircraft noise for all addresses. Information on stroke incidence was acquired through linkage to national patient and mortality registries. We analyzed data using Cox proportional hazards models, including socioeconomic and lifestyle confounders, and air pollution. RESULTS: During follow-up (median = 19.5 y), 11,056 stroke cases were identified. Road traffic noise (Lden) was associated with risk of stroke, with a hazard ratio (HR) of 1.06 [95% confidence interval (CI): 1.03, 1.08] per 10-dB higher 5-y mean time-weighted exposure in analyses adjusted for individual- and area-level socioeconomic covariates. The association was approximately linear and persisted after adjustment for air pollution [particulate matter (PM) with an aerodynamic diameter of <= 2.5 mu m (PM2.5) and NO2]. Stroke was associated with moderate levels of 5-y aircraft noise exposure (40-50 vs. <= 40 dB) (HR = 1.12; 95% CI: 0.99, 1.27), but not with higher exposure (>= 50 dB, HR = 0.94; 95% CI: 0.79, 1.11). Railway noise was not associated with stroke. DISCUSSION: In this pooled study, road traffic noise was associated with a higher risk of stroke. This finding supports road traffic noise as an important cardiovascular risk factor that should be included when estimating the burden of disease due to traffic noise.
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| 8. |
- Betsou, F, et al.
(författare)
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Standard PREanalytical Code Version 3.0
- 2018
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Ingår i: Biopreservation and biobanking. - : Mary Ann Liebert Inc. - 1947-5543 .- 1947-5535. ; 16:1, s. 9-12
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Tidskriftsartikel (refereegranskat)
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| 9. |
- Jonsson, J, et al.
(författare)
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Measuring precarious employment in Sweden: translation, adaptation and psychometric properties of the Employment Precariousness Scale (EPRES)
- 2019
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 9:9, s. e029577-
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Tidskriftsartikel (refereegranskat)abstract
- Precarious employment (PE) is a determinant of poor health and health inequality. However, the evidence of health consequences and mechanisms underlying the associations, are still limited due to a lack of a comprehensive multidimensional definition and measurement instrument. The Employment Precariousness Scale (EPRES) is a Spanish, multidimensional scale, developed to measure degree of PE. The aim of this study was to translate the EPRES-2010 into Swedish, adapt it to the Swedish context and to assess the psychometric properties of the Swedish EPRES.MethodEPRES was translated, adapted and implemented for data collection within the research project PRecarious EMployment in Stockholm (PREMIS). During 2016–2017, questionnaire data were collected from 483 non-standard employees in Stockholm, Sweden, sampled with web-based respondent-driven sampling. Analyses included item descriptive statistics, scale descriptive statistics and exploratory factor analysis.ResultsThe final EPRES-Se (Swedish version of the EPRES),consisted of six dimensions and 23 items. There was a high response rate to all items and response options. Global Cronbach’s alpha was 0.83. Subscales ‘vulnerability’, ‘rights’ and ‘exercise rights’ had reliability coefficients between α=0.78–0.89 and item-subscale correlations between r=0.48–0.78. ‘Temporariness’ had poor reliability (α=−0.08) and inter-item correlation (r=−0.04), while ‘disempowerment’ showed acceptable psychometric properties (α=0.5; r=0.34). Exploratory factor analysis confirmed the original EPRES factor structure.Conclusions‘Vulnerability’, ‘wages’, ‘rights’, ‘exercise rights’ and ‘disempowerment’ worked in the Swedish context; however, ‘temporariness’ would need revising before implementing the EPRES-Se in further research. Continued work and validation of EPRES-Se is encouraged. In order to enable international comparisons and multinational studies, similar studies in other European countries are also called for.
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