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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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- Lindberg, Fredrik, 1974, et al.
(författare)
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Urban storage heat flux variability explored using satellite, meteorological and geodata
- 2020
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Ingår i: Theoretical and Applied Climatology. - : Springer Science and Business Media LLC. - 0177-798X .- 1434-4483. ; 141, s. 271-184
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Tidskriftsartikel (refereegranskat)abstract
- The storage heat flux (Delta Q(S)) is the net flow of heat stored within a volume that may include the air, trees, buildings and ground. Given the difficulty of measurement of this important and large flux in urban areas, we explore the use of Earth Observation (EO) data. EO surface temperatures are used with ground-based meteorological forcing, urban morphology, land cover and land use information to estimate spatial variations of Delta Q(S) in urban areas using the Element Surface Temperature Method (ESTM). First, we evaluate ESTM for four "simpler" surfaces. These have good agreement with observed values. ESTM coupled to SUEWS (an urban land surface model) is applied to three European cities (Basel, Heraklion, London), allowing EO data to enhance the exploration of the spatial variability in Delta Q(S). The impervious surfaces (paved and buildings) contribute most to Delta Q(S). Building wall area seems to explain variation of Delta Q(S) most consistently. As the paved fraction increases up to 0.4, there is a clear increase in Delta Q(S). With a larger paved fraction, the fraction of buildings and wall area is lower which reduces the high values of Delta Q(S).
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