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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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| 3. |
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| 4. |
- Stroth, U., et al.
(författare)
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Progress from ASDEX Upgrade experiments in preparing the physics basis of ITER operation and DEMO scenario development
- 2022
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Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 62:4
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Tidskriftsartikel (refereegranskat)abstract
- An overview of recent results obtained at the tokamak ASDEX Upgrade (AUG) is given. A work flow for predictive profile modelling of AUG discharges was established which is able to reproduce experimental H-mode plasma profiles based on engineering parameters only. In the plasma center, theoretical predictions on plasma current redistribution by a dynamo effect were confirmed experimentally. For core transport, the stabilizing effect of fast ion distributions on turbulent transport is shown to be important to explain the core isotope effect and improves the description of hollow low-Z impurity profiles. The L-H power threshold of hydrogen plasmas is not affected by small helium admixtures and it increases continuously from the deuterium to the hydrogen level when the hydrogen concentration is raised from 0 to 100%. One focus of recent campaigns was the search for a fusion relevant integrated plasma scenario without large edge localised modes (ELMs). Results from six different ELM-free confinement regimes are compared with respect to reactor relevance: ELM suppression by magnetic perturbation coils could be attributed to toroidally asymmetric turbulent fluctuations in the vicinity of the separatrix. Stable improved confinement mode plasma phases with a detached inner divertor were obtained using a feedback control of the plasma β. The enhanced D α H-mode regime was extended to higher heating power by feedback controlled radiative cooling with argon. The quasi-coherent exhaust regime was developed into an integrated scenario at high heating power and energy confinement, with a detached divertor and without large ELMs. Small ELMs close to the separatrix lead to peeling-ballooning stability and quasi continuous power exhaust. Helium beam density fluctuation measurements confirm that transport close to the separatrix is important to achieve the different ELM-free regimes. Based on separatrix plasma parameters and interchange-drift-Alfvén turbulence, an analytic model was derived that reproduces the experimentally found important operational boundaries of the density limit and between L- and H-mode confinement. Feedback control for the X-point radiator (XPR) position was established as an important element for divertor detachment control. Stable and detached ELM-free phases with H-mode confinement quality were obtained when the XPR was moved 10 cm above the X-point. Investigations of the plasma in the future flexible snow-flake divertor of AUG by means of first SOLPS-ITER simulations with drifts activated predict beneficial detachment properties and the activation of an additional strike point by the drifts.
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| 5. |
- Meyer, H.F., et al.
(författare)
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Overview of physics studies on ASDEX Upgrade
- 2019
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Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 59:11
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Forskningsöversikt (refereegranskat)abstract
- The ASDEX Upgrade (AUG) programme, jointly run with the EUROfusion MST1 task force, continues to significantly enhance the physics base of ITER and DEMO. Here, the full tungsten wall is a key asset for extrapolating to future devices. The high overall heating power, flexible heating mix and comprehensive diagnostic set allows studies ranging from mimicking the scrape-off-layer and divertor conditions of ITER and DEMO at high density to fully non-inductive operation (q 95 = 5.5, ) at low density. Higher installed electron cyclotron resonance heating power 6 MW, new diagnostics and improved analysis techniques have further enhanced the capabilities of AUG. Stable high-density H-modes with MW m-1 with fully detached strike-points have been demonstrated. The ballooning instability close to the separatrix has been identified as a potential cause leading to the H-mode density limit and is also found to play an important role for the access to small edge-localized modes (ELMs). Density limit disruptions have been successfully avoided using a path-oriented approach to disruption handling and progress has been made in understanding the dissipation and avoidance of runaway electron beams. ELM suppression with resonant magnetic perturbations is now routinely achieved reaching transiently . This gives new insight into the field penetration physics, in particular with respect to plasma flows. Modelling agrees well with plasma response measurements and a helically localised ballooning structure observed prior to the ELM is evidence for the changed edge stability due to the magnetic perturbations. The impact of 3D perturbations on heat load patterns and fast-ion losses have been further elaborated. Progress has also been made in understanding the ELM cycle itself. Here, new fast measurements of and E r allow for inter ELM transport analysis confirming that E r is dominated by the diamagnetic term even for fast timescales. New analysis techniques allow detailed comparison of the ELM crash and are in good agreement with nonlinear MHD modelling. The observation of accelerated ions during the ELM crash can be seen as evidence for the reconnection during the ELM. As type-I ELMs (even mitigated) are likely not a viable operational regime in DEMO studies of 'natural' no ELM regimes have been extended. Stable I-modes up to have been characterised using -feedback. Core physics has been advanced by more detailed characterisation of the turbulence with new measurements such as the eddy tilt angle - measured for the first time - or the cross-phase angle of and fluctuations. These new data put strong constraints on gyro-kinetic turbulence modelling. In addition, carefully executed studies in different main species (H, D and He) and with different heating mixes highlight the importance of the collisional energy exchange for interpreting energy confinement. A new regime with a hollow profile now gives access to regimes mimicking aspects of burning plasma conditions and lead to nonlinear interactions of energetic particle modes despite the sub-Alfvénic beam energy. This will help to validate the fast-ion codes for predicting ITER and DEMO.
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| 6. |
- Aamodt, K., et al.
(författare)
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Charged-Particle Multiplicity Density at Midrapidity in Central Pb-Pb Collisions at root s(NN)=2.76 TeV
- 2010
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Ingår i: Physical Review Letters. - 1079-7114. ; 105:25
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Tidskriftsartikel (refereegranskat)abstract
- The first measurement of the charged-particle multiplicity density at midrapidity in Pb-Pb collisions at a center-of-mass energy per nucleon pair root s(NN) = 2.76 TeV is presented. For an event sample corresponding to the most central 5% of the hadronic cross section, the pseudorapidity density of primary charged particles at midrapidity is 1584 +/- 4(stat) +/- 76(syst), which corresponds to 8.3 +/- 0.4(syst) per participating nucleon pair. This represents an increase of about a factor 1.9 relative to pp collisions at similar collision energies, and about a factor 2.2 to central Au-Au collisions at root s(NN) = 0.2 TeV. This measurement provides the first experimental constraint for models of nucleus-nucleus collisions at LHC energies.
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| 7. |
- Aamodt, K., et al.
(författare)
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Elliptic Flow of Charged Particles in Pb-Pb Collisions at root s(NN)=2.76 TeV
- 2010
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Ingår i: Physical Review Letters. - 1079-7114. ; 105:25
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Tidskriftsartikel (refereegranskat)abstract
- We report the first measurement of charged particle elliptic flow in Pb-Pb collisions at root s(NN) p = 2.76 TeV with the ALICE detector at the CERN Large Hadron Collider. The measurement is performed in the central pseudorapidity region (vertical bar eta vertical bar < 0.8) and transverse momentum range 0.2 < p(t) < 5.0 GeV/c. The elliptic flow signal v(2), measured using the 4-particle correlation method, averaged over transverse momentum and pseudorapidity is 0.087 +/- 0.002(stat) +/- 0.003(syst) in the 40%-50% centrality class. The differential elliptic flow v(2)(p(t)) reaches a maximum of 0.2 near p(t) = 3 GeV/c. Compared to RHIC Au-Au collisions at root s(NN) = 200 GeV, the elliptic flow increases by about 30%. Some hydrodynamic model predictions which include viscous corrections are in agreement with the observed increase.
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| 8. |
- Aamodt, K., et al.
(författare)
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Harmonic decomposition of two particle angular correlations in Pb-Pb collisions at root s(NN)=2.76 TeV
- 2012
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 708:3-5, s. 249-264
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Tidskriftsartikel (refereegranskat)abstract
- Angular correlations between unidentified charged trigger (t) and associated (a) particles are measured by the ALICE experiment in Pb-Pb collisions at root s(NN) = 2.76 TeV for transverse momenta 0.25 < p(T)(t,a) < 15 GeV/c, where p(T)(t) > p(T)(a). The shapes of the pair correlation distributions are studied in a variety of collision centrality classes between 0 and 50% of the total hadronic cross section for particles in the pseudorapidity interval |eta| < 1.0. Distributions in relative azimuth Delta phi equivalent to phi(t) - phi(a) are analyzed for |Delta eta| equivalent to |eta(t) - eta(a)| > 0.8, and are referred to as "long-range correlations". Fourier components V-n Delta equivalent to < cos(n Delta phi)> are extracted from the long-range azimuthal correlation functions. If particle pairs are correlated to one another through their individual correlation to a common symmetry plane, then the pair anisotropy V-n Delta (p(T)(t), p(T)(a)) is fully described in terms of single-particle anisotropies v(n)(p(T)) as V-n Delta(p(T)(t), p(T)(a)) = v(n)(p(T)(t))v(n)(p(T)(a)). This expectation is tested for 1 <= n <= 5 by applying a global fit of all V-n Delta(p(T)(t), p(T)(a)) to obtain the best values v(n){GF}(p(T)). It is found that for 2 <= n <= 5, the fit agrees well with data up to p(T)(a) similar to 3-4 GeV/c, with a trend of increasing deviation as p(T)(t) and p(T)(a) are increased or as collisions become more peripheral. This suggests that no pair correlation harmonic can be described over the full 0.25 < p(T) < 15 GeV/c range using a single v(n)(p(T)) curve: such a description is however approximately possible for 2 <= n <= 5 when p(T)(a) < 4 GeV/c. For the n = 1 harmonic, however, a single v(1)(p(T)) curve is not obtained even within the reduced range p(T)(a) < 4 GeV/c. (C) 2012 CERN. Published by Elsevier B.V. All rights reserved.
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| 9. |
- Aamodt, K., et al.
(författare)
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Particle-Yield Modification in Jetlike Azimuthal Dihadron Correlations in Pb-Pb Collisions at root S-NN=2.76 TeV
- 2012
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Ingår i: Physical Review Letters. - 1079-7114. ; 108:9
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Tidskriftsartikel (refereegranskat)abstract
- The yield of charged particles associated with high-pt trigger particles (8 < p(t) < 15 GeV/c) is measured with the ALICE detector in Pb-Pb collisions at root S-NN = 2.76 TeV relative to proton-proton collisions at the same energy. The conditional per-trigger yields are extracted from the narrow jetlike correlation peaks in azimuthal dihadron correlations. In the 5% most central collisions, we observe that the yield of associated charged particles with transverse momenta p(t) > 3 GeV/c on the away side drops to about 60% of that observed in pp collisions, while on the near side a moderate enhancement of 20%-30% is found.
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| 10. |
- Abelev, B., et al.
(författare)
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Heavy flavour decay muon production at forward rapidity in proton-proton collisions at root s=7 TeV
- 2012
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 708:3-5, s. 265-275
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Tidskriftsartikel (refereegranskat)abstract
- The production of muons from heavy flavour decays is measured at forward rapidity in proton-proton collisions at root s = 7 TeV collected with the ALICE experiment at the LHC. The analysis is carried out on a data sample corresponding to an integrated luminosity L-int = 16.5 nb(-1). The transverse momentum and rapidity differential production cross sections of muons from heavy flavour decays are measured in the rapidity range 2.5 < y <4, over the transverse momentum range 2 < p(t) < 12 GeV/c. The results are compared to predictions based on perturbative QCD calculations. (C) 2012 CERN. Published by Elsevier B.V. All rights reserved.
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