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Sökning: WFRF:(Ban Gilles) > Refereegranskat

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1.
  • Beecham, Ashley H, et al. (författare)
  • Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
  • 2013
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
  • Tidskriftsartikel (refereegranskat)abstract
    • Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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2.
  • Bevilacqua, Riccardo, 1974-, et al. (författare)
  • Medley spectrometer for light ions in neutron-induced reactions at 175 MeV
  • 2011
  • Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier BV. - 0168-9002 .- 1872-9576. ; 646:1, s. 100-107
  • Tidskriftsartikel (refereegranskat)abstract
    • We have upgraded the Medley spectrometer to measure neutron-induced double differential cross-sections for light-ion production, with neutron energies up to 175 MeV. Measurements were performed at the quasi-monoenergetic neutron beam line at the The Svedberg Laboratory, in Uppsala (Sweden). Medley is a spectrometer system composed of eight three-element telescope detectors; Delta E-E technique is used for particle identification and total kinetic energy measurement. We have improved particle separation and installed new detectors that fully stop ions with kinetic energy up to 170 MeV. To reduce the contribution of the low energy tail in the quasi-monoenergetic neutron spectrum, we have applied time-of-flight techniques and investigated the results for measurements with 175 MeV neutrons. We have investigated the response function of the CsI(Tl) scintillators and describe a method for efficiency correction. We have studied the signal-to-background ratio of the new configuration of the spectrometer and of the collimation system. A method to obtain absolute cross-section normalization, separating the peak neutrons from the low-energy tail, is proposed. Finally we have characterized the 175 MeV quasi-monoenergetic neutron spectrum with the Medley spectrometer. This upgraded configuration has been used in 2007 and 2009 for light-ion production measurements at 175 MeV from C, Si, O, Fe, Bi and U.
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