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- Fuchsberger, Christian, et al.
(författare)
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The genetic architecture of type 2 diabetes
- 2016
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 536:7614, s. 41-47
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Tidskriftsartikel (refereegranskat)abstract
- The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.
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| 4. |
- Flannick, Jason, et al.
(författare)
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Data Descriptor : Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 2017
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Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 4
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Tidskriftsartikel (refereegranskat)abstract
- To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.
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| 5. |
- Lehr, C., et al.
(författare)
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Unveiling the two-proton halo character of 17 Ne: Exclusive measurement of quasi-free proton-knockout reactions
- 2022
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 827
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Tidskriftsartikel (refereegranskat)abstract
- The proton drip-line nucleus 17Ne is investigated experimentally in order to determine its two-proton halo character. A fully exclusive measurement of the 17Ne(p,2p)16F→15⁎O+p quasi-free one-proton knockout reaction has been performed at GSI at around 500 MeV/nucleon beam energy. All particles resulting from the scattering process have been detected. The relevant reconstructed quantities are the angles of the two protons scattered in quasi-elastic kinematics, the decay of 16F into 15O (including γ decays from excited states) and a proton, as well as the 15O+p relative-energy spectrum and the 16F momentum distributions. The latter two quantities allow an independent and consistent determination of the fractions of l=0 and l=2 motion of the valence protons in 17Ne. With a resulting relatively small l=0 component of only around 35(3)%, it is concluded that 17Ne exhibits a rather modest halo character only. The quantitative agreement of the two values deduced from the energy spectrum and the momentum distributions supports the theoretical treatment of the calculation of momentum distributions after quasi-free knockout reactions at high energies by taking into account distortions based on the Glauber theory. Moreover, the experimental data allow the separation of valence-proton knockout and knockout from the 15O core. The latter process contributes with 11.8(3.1) mb around 40% to the total proton-knockout cross section of 30.3(2.3) mb, which explains previously reported contradicting conclusions derived from inclusive cross sections.
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| 6. |
- Marganiec, J., et al.
(författare)
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Coulomb breakup of 17Ne from the viewpoint of nuclear astrophysics
- 2012
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Ingår i: Proceedings of Science. - Proceedings of Science : Sissa. - 1824-8039.
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Konferensbidrag (refereegranskat)abstract
- By the Coulomb breakup of 17Ne, the time-reversed reaction 15O(2p,γ)17Ne has been studied. This reaction might play an important role in the rp process, as a break-out reaction of the hot CNO cycle. The secondary 17Ne ion beam with an energy of 500 MeV/nucleon has been dissociated in a Pb target. The reaction products have been detected with the LAND-R3B experimental setup at GSI. The preliminary differential and integral Coulomb dissociation cross section sCoul has been determined, which then will be converted into a photo-absorption cross section sphoto, and a two-proton radiative capture cross section σcap. Additionally, information about the structure of the 17Ne, a potential two-proton halo nucleus, will be received. The analysis is in progress. © Copyright owned by the author(s) under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike Licence.
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| 7. |
- Wamers, F., et al.
(författare)
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Comparison of electromagnetic and nuclear dissociation of Ne 17
- 2018
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Ingår i: Physical Review C. - 2469-9985 .- 2469-9993. ; 97:3
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Tidskriftsartikel (refereegranskat)abstract
- The Borromean drip-line nucleus Ne17 has been suggested to possess a two-proton halo structure in its ground state. In the astrophysical rp-process, where the two-proton capture reaction O15(2p,γ)Ne17 plays an important role, the calculated reaction rate differs by several orders of magnitude between different theoretical approaches. To add to the understanding of the Ne17 structure we have studied nuclear and electromagnetic dissociation. A 500 MeV/u Ne17 beam was directed toward lead, carbon, and polyethylene targets. Oxygen isotopes in the final state were measured in coincidence with one or two protons. Different reaction branches in the dissociation of Ne17 were disentangled. The relative populations of s and d states in F16 were determined for light and heavy targets. The differential cross section for electromagnetic dissociation (EMD) shows a continuous internal energy spectrum in the three-body system O15+2p. The Ne17 EMD data were compared to current theoretical models. None of them, however, yields satisfactory agreement with the experimental data presented here. These new data may facilitate future development of adequate models for description of the fragmentation process.
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| 8. |
- Wamers, F., et al.
(författare)
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Diverse mechanisms in proton knockout reactions from the Borromean nucleus Ne-17
- 2023
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Ingår i: European Physical Journal A. - : Springer. - 1434-6001 .- 1434-601X. ; 59
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Tidskriftsartikel (refereegranskat)abstract
- Nucleon knockout experiments using beryllium or carbon targets reveal a strong dependence of the quenching factors, i.e., the ratio (Rs) of theoretical to the experimental spectroscopic factors (C2S), on the proton-neutron asymmetry in the nucleus under study. However, this dependence is greatly reduced when a hydrogen target is used. To understand this phenomenon, exclusive H-1(Ne-17, 2p F-16) and inclusive C-12(Ne-17, 2p 1(6)F)X, 1(2)C(Ne-17, F-16)X as well as 1H(Ne-17,(16) F)X(X-denotes undetected reaction products) reactions with F-16 in the ground and excited states were anal- ysed. The longitudinal momentum distribution of F-16 and the correlations between the detached protons were studied. In the case of the carbon target, there is a significant deviation from the predictions of the eikonal model. The eikonal approximation was used to extract spectroscopic factor values (CS)-S-2. The experimental (CS)-S-2 value obtained with C target is markedly lower than that for H target. This is interpreted as rescattering due to simultaneous nucleon knockout from both reaction partners, Ne-17 and C-12.
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| 9. |
- Aksouh, F., et al.
(författare)
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STUDY OF THE O-15(2p,gamma)Ne-17 CROSS SECTION BY COULOMB DISSOCIATION OF Ne-17 FOR THE rp PROCESS OF NUCLEOSYNTHESIS
- 2014
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Ingår i: Acta Physica Polonica, Series B.. - 1509-5770 .- 0587-4254. ; 45:2, s. 229-234
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Tidskriftsartikel (refereegranskat)abstract
- The O-15(2p, gamma)Ne-17 cross section has been studied by the inverse reaction, the Coulomb dissociation of Ne-17. The experiment has been performed at the GSI. The Ne-17 excitation energy prior to decay has been reconstructed by using the invariant-mass method. The preliminary differential and integral Coulomb dissociation cross sections (sigma(Coul)) have been extracted, which provide a photoabsorption (sigma(photo)) and a radiative capture cross section (sigma(cap)). Additionally, important information about the Ne-17 nuclear structure will be obtained. The analysis is in progress.
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| 10. |
- Marganiec, C., et al.
(författare)
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Coulomb breakup of 17Ne from the viewpoint of nuclear astrophysics
- 2013
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Ingår i: Proceedings of Science.
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Konferensbidrag (refereegranskat)abstract
- By the Coulomb breakup of 17Ne, the time-reversed reaction 15O(2p,γ)17Ne has been studied. This reaction might play an important role in the rp process, as a break-out reaction of the hot CNO cycle. The secondary 17Ne ion beam with an energy of 500 MeV/nucleon has been dissociated in a Pb target. The reaction products have been detected with the LAND-R3B experimental setup at GSI. The preliminary differential and integral Coulomb dissociation cross section sCoul has been determined, which then will be converted into a photo-absorption cross section sphot o, and a two-proton radiative capture cross section σcap. Additionally, information about the structure of the 17Ne, a potential two-proton halo nucleus, will be received. The analysis is in progress.
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