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| 2. |
- 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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| 4. |
- Polme, S., et al.
(författare)
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FungalTraits: a user-friendly traits database of fungi and fungus-like stramenopiles
- 2020
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Ingår i: Fungal Diversity. - : Springer Science and Business Media LLC. - 1560-2745 .- 1878-9129. ; 105:1, s. 1-16
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Tidskriftsartikel (refereegranskat)abstract
- The cryptic lifestyle of most fungi necessitates molecular identification of the guild in environmental studies. Over the past decades, rapid development and affordability of molecular tools have tremendously improved insights of the fungal diversity in all ecosystems and habitats. Yet, in spite of the progress of molecular methods, knowledge about functional properties of the fungal taxa is vague and interpretation of environmental studies in an ecologically meaningful manner remains challenging. In order to facilitate functional assignments and ecological interpretation of environmental studies we introduce a user friendly traits and character database FungalTraits operating at genus and species hypothesis levels. Combining the information from previous efforts such as FUNGuild and Fun(Fun) together with involvement of expert knowledge, we reannotated 10,210 and 151 fungal and Stramenopila genera, respectively. This resulted in a stand-alone spreadsheet dataset covering 17 lifestyle related traits of fungal and Stramenopila genera, designed for rapid functional assignments of environmental studies. In order to assign the trait states to fungal species hypotheses, the scientific community of experts manually categorised and assigned available trait information to 697,413 fungal ITS sequences. On the basis of those sequences we were able to summarise trait and host information into 92,623 fungal species hypotheses at 1% dissimilarity threshold.
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| 5. |
- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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| 6. |
- Moksnes, Nandi, et al.
(författare)
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Electrification pathways for Kenya-linking spatial electrification analysis and medium to long term energy planning (vol 12, 095008, 2017)
- 2020
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Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 15:12
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Tidskriftsartikel (refereegranskat)abstract
- We have identified input values that were not harmonized with the paper and have therefore submitted this corrigendum. Qualitatively, there are no major differences between the two versions, and the insights generated are unchanged. However, part of the results, figures and discussion needed to be updated based on the new findings. We present those in the form of a corrigendum. In the model runs there were input parameters that were not harmonized with the published paper as seen in annex in table 1. Therefore, to amend the incurred values, we have re-run the model and updated the following sections of the paper.
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| 7. |
- Ramos, Eunice, et al.
(författare)
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The role of energy efficiency in the management of water resources of the Syr Darya River basin
- 2021
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Ingår i: International Journal of Environment and Sustainable Development (IJESD). - : INDERSCIENCE ENTERPRISES LTD. - 1474-6778 .- 1478-7466. ; 20:1, s. 64-88
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Tidskriftsartikel (refereegranskat)abstract
- A motivation for integrated resource assessments is that they can capture indirect cross-sectoral effects of sectoral policies. This work investigates the electricity system implications from the implementation of basin-wide electricity and water systems efficiency measures. The spatial scope includes the four states that share the Syr Darya River basin. Different interests dictate the management of water resources in the basin. They are necessary for irrigation downstream in spring and summer and upstream, for hydropower generation during winter. The study investigated options to decrease the need for electricity upstream through efficiency measures and by the expansion of regional electricity trade. The scenarios were simulated by developing a multi-country electricity system model using the open source energy modelling system (OSeMOSYS). The results show that lesser investments in hydropower capacity could be needed and less water required in winter. This would reduce pressure on shared water resources.
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