| 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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| 3. |
- Takada, A., et al.
(författare)
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SMILE-II : Observation of celestial and atmosphereic MeV gamma rays using a balloon-borne wide fields of view Electron-Tracking Compton Camera
- 2011
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Ingår i: Proceedings of the 20th ESA Symposium on European Rocket and Balloon Programmes and Related Research. - Noordwijk : European Space Agency, ESA. ; , s. 567-571
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Konferensbidrag (refereegranskat)abstract
- We have developed an Electron Tracking Compton Camera (ETCC) as an MeV gamma-ray telescope in the next generation. The ETCC consists of a gaseous time projection chamber and a position sensitive scintillation camera. We had launched a small size ETCC loaded on a balloon in 2006, and it was successful to obtain the fluxes of diffuse cosmic and atmospheric gamma rays in the energy range between 125 keV and 1.25 MeV. As the next flight (SMILE-II), we planned a long duration flight using a circumpolar balloon launched from Kiruna, and it will observe the celestial bright sources and the atmospheric gamma-ray burst due to the relativistic electron from the radiation belt. In this paper, we report the concepts of our detector and the performance of the SMILE-Il prototype.
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