| 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. |
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| 3. |
- Groenen, M. A., et al.
(författare)
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Analyses of pig genomes provide insight into porcine demography and evolution
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 491:7424, s. 393-398
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Tidskriftsartikel (refereegranskat)abstract
- For 10,000 years pigs and humans have shared a close and complex relationship. From domestication to modern breeding practices, humans have shaped the genomes of domestic pigs. Here we present the assembly and analysis of the genome sequence of a female domestic Duroc pig (Sus scrofa) and a comparison with the genomes of wild and domestic pigs from Europe and Asia. Wild pigs emerged in South East Asia and subsequently spread across Eurasia. Our results reveal a deep phylogenetic split between European and Asian wild boars approximately 1 million years ago, and a selective sweep analysis indicates selection on genes involved in RNA processing and regulation. Genes associated with immune response and olfaction exhibit fast evolution. Pigs have the largest repertoire of functional olfactory receptor genes, reflecting the importance of smell in this scavenging animal. The pig genome sequence provides an important resource for further improvements of this important livestock species, and our identification of many putative disease-causing variants extends the potential of the pig as a biomedical model.
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| 4. |
- Anne, R., et al.
(författare)
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Dissociation Reactions of the Be-11 One-Neutron Halo - the Interplay between Structure and Reaction-Mechanism
- 1993
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 304:1-2, s. 55-59
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Tidskriftsartikel (refereegranskat)abstract
- The angular distributions of the forward neutrons in the exclusive (Be-10 + n) channel have been measured. They can be accounted for quantitatively and without free parameters in terms of Coulomb and diffraction dissociation. The results show that the transverse momentum distributions result from an interplay between the tail of the wave function (the halo) and the reaction mechanism.
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| 5. |
- Anne, R., et al.
(författare)
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Exclusive and Restricted-Inclusive Reactions Involving the Be-11 One-Neutron Halo
- 1994
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Ingår i: Nuclear Physics A. - : Elsevier BV. - 0375-9474. ; 575:1, s. 125-154
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Tidskriftsartikel (refereegranskat)abstract
- Reactions of a 41 MeV/u beam of the radioactive halo nucleus Be-11 have been studied with a counter telescope coupled to an array of neutron detectors covering angles up to 97-degrees. The technique allows to determine single-neutron inclusive and exclusive angular distributions. The targets (Be, Ti and Au) were chosen to illustrate the relative roles played by nuclear and Coulomb mechanisms. The channels leading to Be-10, the dissociation channels, correspond to impact parameters larger than the sum of the radii of the target and the Be-10 core. It is shown that for the dissociation process it is possible to account almost quantitatively for the integral, single- and double-differential cross sections from models without free parameters including the Coulomb, Serber and Glauber (diffraction-dissociation) mechanisms. The neutron distributions from the nondissociative reaction channels show little individuality and it is convenient to group them together as the channel ''neutron plus anything different from Be-10''. We refer to these as ''restricted-inclusive'' reactions. These seem to be a promising tool for obtaining accurate information on the halo wave function in momentum coordinates.
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| 6. |
- Anne, R., et al.
(författare)
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Projectile Coulomb-Excitation with Fast Radioactive Beams
- 1995
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Ingår i: Zeitschrift fur Physik A Hadrons and Nuclei. - 1431-5831 .- 0939-7922. ; 352:4, s. 397-401
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Tidskriftsartikel (refereegranskat)abstract
- We report a search for gamma rays emanating from Coulomb excitation of fast (30-46 MeV/u) radioactive projectiles He-8, Be-11,Be-12,Be-14 interacting with a lead target. These are clearly identified by their Doppler shift. The 320 keV 1/2(-) --> 1/2(+)gamma transition from Be-11 was observed with a cross-section of 191 +/- 26 mb which is noticeably less than expected from the known lifetime and in the perturbation limit of pure Coulomb excitation. In the other nuclei rather stringent upper limits of 0.01 to 0.2 Weisskopf units, are placed on the hypothetical transition to 1(-) states.
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| 7. |
- Keller, H., et al.
(författare)
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Search for Forbidden Beta-Decays of the Drip-Line Nucleus Be-12
- 1994
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Ingår i: Zeitschrift fur Physik A Hadrons and Nuclei. - 1431-5831 .- 0939-7922. ; 348:1, s. 61-62
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Tidskriftsartikel (refereegranskat)abstract
- Beta-coincident gamma-rays have been measured from implanted pure samples of Be-12 separated at the LISE3 spectrometer at GANIL. An intensity of 0.040(26)% can be estimated for the branching ratio of the isospin forbidden pure-Fermi transition to the 0+ excited state of B-12 and of 0.008(6) % of the transition to the 1- excited state. Both are taken to represent upper limits. The halflife has been re-measured to be 26.1(2.4) ms.
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| 8. |
- Axelsson, L., et al.
(författare)
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Beta decay of Ar-31
- 1998
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Ingår i: Nuclear Physics A. - 0375-9474. ; 634:4, s. 475-496
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Tidskriftsartikel (refereegranskat)abstract
- A complete study of Ar-31 beta decay has been made by high-resolution charged-particle and gamma-ray spectroscopy. Beta-delayed radiation was detected by an array of three charged-particle detectors and a large-volume germanium detector. Fifteen new energy levels were discovered in Cl-31. The beta-strength distribution, measured to 14.5 MeV, is compared with a shell-model calculation in the full sd space. The quenching of the Gamow-Teller strength and the isospin impurity of the IAS in Cl-31 are discussed. (C) 1998 Published by Elsevier Science B.V.
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| 9. |
- Bergmann, U. C., et al.
(författare)
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On the beta-decay of C-9
- 2001
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Ingår i: Nuclear Physics A. - 0375-9474. ; 692:3-4, s. 427-450
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Tidskriftsartikel (refereegranskat)abstract
- In beta -decay experiments on C-9 at CERN/ISOLDE the beta -strength was determined to the ground state, the 12.2 MeV excited state and the Isobaric Analog State (IAS) at 14.655 MeV in B-9. A large beta -strength asymmetry is deduced for the mirror transitions of C-9 and Li-9 to states around 12 MeV excitation energy. A satisfactory description of the three-body decay from a narrow energy region around the 12.2 MeV resonance is obtained within a sequential model involving the ground and first-excited states of Li-5 and Be-8. From the study of angular correlations the spin of the 12.2 MeV state is determined as 5/2(-). For the first time the population of the IAS is observed in beta -decay and new information on the decay of this state is obtained. The advantages of a closely packed. highly segmented detector setup are demonstrated. (C) 2001 Elsevier Science B.V. All rights reserved.
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| 10. |
- Grevy, S., et al.
(författare)
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Core-breakup reactions of the halo nuclei Be-11 and Li-11: momentum distributions and shadow effects
- 1999
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Ingår i: Nuclear Physics A. - 0375-9474. ; 650:1, s. 47-61
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Tidskriftsartikel (refereegranskat)abstract
- The halo nuclei Be-11 and Li-11 have been studied in core-breakup reactions where the halo neutrons are expected to be released without a major distortion due to the reaction. The widths of the halo-neutron momentum distributions have been extracted in coincidence with He fragments, Gamma = 32 +/- 4 MeV/c, and Li fragments, Gamma = 42 +/- 4 MeV/c for Be-11 and with He fragments, Gamma =42+/-6 MeV/c for Li-11. The Be-11 breakup gives a very low neutron multiplicity of 0.38+/-0.09 which is a manifestation of the shadowing of the neutron in the core-breakup reaction. This value can be understood from a simple theoretical calculation, which also accounts for the observed transverse momentum widths at small angles. (C) 1999 Elsevier Science B.V.
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