| 1. |
- 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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| 2. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 7. |
- Dunham, I, et al.
(författare)
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The DNA sequence of human chromosome 22
- 1999
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 402:6761, s. 489-495
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Tidskriftsartikel (refereegranskat)
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| 8. |
- Kim, Hi-Young, et al.
(författare)
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The enhancement of video feedback by cognitive preparation i the treatment of social anxiety. : A single session experiment.
- 2002
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Ingår i: Journal of Behavior Therapy and Experimental Psychiatry. - 0005-7916. ; 33:1, s. 19-37
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Tidskriftsartikel (refereegranskat)abstract
- The present study replicates and extends Harvey, Clark, Ehlers and Rapee's single-session experiment of video feedback with cognitive preparation in individuals with high social anxiety. Forty participants high on social anxiety where asked to present a speech before a video camera and then received video feedback of their speech. Half of the participants received cognitive preparation prior to the video feedback, whereas the other half only received video feedback. The cognitiv preparation procedure asked the participants to (1) predict in detail what the yould see in the video, (2) form an image of themselves giving the speech, and (3) watch the video as though they were watching a stranger. All the participants were asked to present a second speech 30 min after the first speech to index generalisation effects. Cognitive preparation enchanced the therapeutic effect of video feedback after the first speech, and also showed a robust gneralisation effect on the evaluation of the second speech. Beofred the second speech, the participants underwent an emotional Stroop task with masked and unmasked words; the results showed that Stroop interference for both masked and unmasked social threat words correlated consistently with measures of social anxiety, but not with the preceding or ensuing speech evaluations.
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