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- Clark, DW, et al.
(author)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Journal article (peer-reviewed)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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- Asano, H., et al.
(author)
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Spectroscopic study of the Λ(1405) resonance via the d (K-, n) reaction at J-PARC
- 2019
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In: 13th International Conference on Hypernuclear and Strange Particle Physics, HYP 2018. - : AIP Publishing. - 9780735418721 ; 2130
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Conference paper (peer-reviewed)abstract
- The structure of the Λ(1405) hyperon is an important and long-standing issue related to the K̄-nucleus interaction. The J-PARC E31 experiment has been performed to investigate the Λ(1405) spectrum shape. Because it is hard to form the Λ(1405) directly by a K̄N scattering in free space, E31 uses the d(K-, n) reaction with an incident kaon momentum of 1 GeV/c. We will identify three final states - ς-π+, ς+π-, ς0π0-so that the isospin structure of hyperon resonance states produced can be decomposed. The first physics run of the E31 experiment was performed in 2016. To enhance the statistics of the data set, we have performed the second physics run in the beginning of 2018. During the second run of E31, around 3.9×1010 kaons impacted on the deuteron target.
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- Yamaga, Takumi, et al.
(author)
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Study of the elementary (K -, n) reactions to search for the K NN bound state via the 3He (K -, n) reaction at J-PARC
- 2016
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In: XVIth International Conference on Hadron Spectroscopy, Hadron 2015. - : Author(s). - 9780735413894 ; 1735
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Conference paper (peer-reviewed)abstract
- We have searched for the simplest kaonic nuclear state, K̄NN, using the in-flight 3He (K-, n) reaction at the J-PARC hadron experimental facility. In the semi-inclusive neutron missing-mass spectrum at θnlab=0°, an excess of yield was observed just below the K- pp mass-threshold, which cannot be explained by any elementary reactions [PTEP 2015, 061D01]. To understand the missing-mass spectrum of 3He (K-, n) X, we investigated the elementary (K-, n) reactions using hydrogen and deuterium targets. The p (K-, n) X missing-mass spectrum was well described by the charge-exchange reaction. However, in the d (K-, n) X spectrum, we observed an excess of yield just below the K- p mass-threshold, which was similar to that in the 3He (K-, n) X spectrum.
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- Wuttke, Matthias, et al.
(author)
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A catalog of genetic loci associated with kidney function from analyses of a million individuals
- 2019
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In: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
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Journal article (peer-reviewed)abstract
- Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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- Adolph, C., et al.
(author)
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Azimuthal asymmetries of charged hadrons produced in high-energy muon scattering off longitudinally polarised deuterons
- 2018
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In: European Physical Journal C. - : SPRINGER. - 1434-6044 .- 1434-6052. ; 78:11
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Journal article (peer-reviewed)abstract
- Single hadron azimuthal asymmetries of positive and negative hadrons produced in muon semi-inclusive deep inelastic scattering off longitudinally polarised deuterons are determined using the 2006 COMPASS data and also combined all deuteron COMPASS data. For each hadron charge, the dependence of the azimuthal asymmetry on the hadron azimuthal angle f is obtained by means of a fiveparameter fitting function that besides a f-independent term includes four modulations predicted by theory: sin f, sin 2f, sin 3f and cos f. The amplitudes of the five terms have been extracted, first, for the hadrons in the whole available kinematic region. In further fits, performed for hadrons from a restricted kinematic region, the f-dependence is determined as a function of one of three variables (Bjorken-x, fractional energy of virtual photon taken by the outgoing hadron and hadron transverse momentum), while disregarding the others. Except thef-independent term, all themodulation amplitudes are very small, and no clear kinematic dependence could be observed within experimental uncertainties.
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| 9. |
- Adolph, C., et al.
(author)
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Final COMPASS results on the deuteron spin-dependent structure function g(1)(d) and the Bjorken sum rule
- 2017
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In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 769, s. 34-41
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Journal article (peer-reviewed)abstract
- Final results are presented from the inclusive measurement of deep-inelastic polarised-muon scattering on longitudinally polarised deuterons using a 6LiD target. The data were taken at 160 GeV beam energy and the results are shown for the kinematic range 1 (GeV/c)2 < Q2 < 100 (GeV/c)2 in photon virtuality, 0.004 < x < 0.7 in the Bjorken scaling variable and W > 4GeV/c2 in the mass of the hadronic final state. The deuteron double-spin asymmetry A(1)(d) and the deuteron longitudinal-spin structure function g(1)(d) are presented in bins of x and Q2. Towards lowest accessible values of x, g(1)(d) decreases and becomes consistent with zero within uncertainties. The presented final g(1)(p) values together with the recently published final g(1)(p) values of COMPASS are used to again evaluate the Bjorken sum rule and perform the QCD fit to the g1 world data at next-to-leading order of the strong coupling constant. In both cases, changes in central values of the resulting numbers are well within statistical uncertainties. The flavour singlet axial charge a0, which is identified in the MS renormalisation scheme with the total contribution of quark helicities to the nucleon spin, is extracted at next-to-leading order accuracy from only the COMPASS deuteron data: a0(Q2 = 3 (GeV/c)2) = 0.32 +/- 0.02stat +/- 0.04syst +/- 0.05evol. Together with the recent results on the proton spin structure function g(1)(p), the results on g(1)(d) constitute the COMPASS legacy on the measurements of g1 through inclusive spin-dependent deep inelastic scattering.
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| 10. |
- Adolph, C., et al.
(author)
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First measurement of the Sivers asymmetry for gluons using SIDIS data
- 2017
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In: Physics Letters B. - : Elsevier BV. - 0370-2693 .- 1873-2445. ; 772, s. 854-864
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Journal article (peer-reviewed)abstract
- The Sivers function describes the correlation between the transverse spin of a nucleon and the transverse motion of its partons. For quarks, it was studied in previous measurements of the azimuthal asymmetry of hadrons produced in semi-inclusive deep inelastic scattering of leptons off transversely polarised nucleon targets, and it was found to be non-zero. In this letter the evaluation of the Sivers asymmetry for gluons is presented. The contribution of the photon-gluon fusion subprocess is enhanced by requiring two high transverse-momentum hadrons. The analysis method is based on a Monte Carlo simulation that includes three hard processes: photon-gluon fusion, QCD Compton scattering and the leading-order virtual-photon absorption process. The Sivers asymmetries of the three processes are simultaneously extracted using the LEPTO event generator and a neural network approach. The method is applied to samples of events containing at least two hadrons with large transverse momentum from the COMPASS data taken with a 160 GeV/c muon beam scattered off transversely polarised deuterons and protons. With a significance of about two standard deviations, a negative value is obtained for the gluon Sivers asymmetry. The result of a similar analysis for a Collins-like asymmetry for gluons is consistent with zero. (C) 2017 The Author(s). Published by Elsevier B.V.
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