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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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| 2. |
- Galand, M., et al.
(författare)
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Far-ultraviolet aurora identified at comet 67P/Churyumov-Gerasimenko
- 2020
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Ingår i: Nature Astronomy. - : NATURE RESEARCH. - 2397-3366. ; 4:11, s. 1084-1091
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Tidskriftsartikel (refereegranskat)abstract
- In situ measurements from the Rosetta spacecraft reveal the presence of atomic emissions close to comet 67P's nucleus. Such emissions are due to dissociative excitation of molecules by the interaction with the solar wind, identifying them as a form of aurora. Having a nucleus darker than charcoal, comets are usually detected from Earth through the emissions from their coma. The coma is an envelope of gas that forms through the sublimation of ices from the nucleus as the comet gets closer to the Sun. In the far-ultraviolet portion of the spectrum, observations of comae have revealed the presence of atomic hydrogen and oxygen emissions. When observed over large spatial scales as seen from Earth, such emissions are dominated by resonance fluorescence pumped by solar radiation. Here, we analyse atomic emissions acquired close to the cometary nucleus by the Rosetta spacecraft and reveal their auroral nature. To identify their origin, we undertake a quantitative multi-instrument analysis of these emissions by combining coincident neutral gas, electron and far-ultraviolet observations. We establish that the atomic emissions detected from Rosetta around comet 67P/Churyumov-Gerasimenko at large heliocentric distances result from the dissociative excitation of cometary molecules by accelerated solar-wind electrons (and not by electrons produced from photo-ionization of cometary molecules). Like the discrete aurorae at Earth and Mars, this cometary aurora is driven by the interaction of the solar wind with the local environment. We also highlight how the oxygen line Oiat wavelength 1,356 A could be used as a tracer of solar-wind electron variability.
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