| 1. |
- Stacey, Simon N, et al.
(författare)
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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1098-103
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Tidskriftsartikel (refereegranskat)abstract
- To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).
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| 2. |
- Abelev, Betty, et al.
(författare)
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Long-range angular correlations on the near and away side in p-Pb collisions at root S-NN=5.02 TeV
- 2013
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Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 719:1-3, s. 29-41
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Tidskriftsartikel (refereegranskat)abstract
- Angular correlations between charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV for transverse momentum ranges within 0.5 < P-T,P-assoc < P-T,P-trig < 4 GeV/c. The correlations are measured over two units of pseudorapidity and full azimuthal angle in different intervals of event multiplicity, and expressed as associated yield per trigger particle. Two long-range ridge-like structures, one on the near side and one on the away side, are observed when the per-trigger yield obtained in low-multiplicity events is subtracted from the one in high-multiplicity events. The excess on the near-side is qualitatively similar to that recently reported by the CMS Collaboration, while the excess on the away-side is reported for the first time. The two-ridge structure projected onto azimuthal angle is quantified with the second and third Fourier coefficients as well as by near-side and away-side yields and widths. The yields on the near side and on the away side are equal within the uncertainties for all studied event multiplicity and p(T) bins, and the widths show no significant evolution with event multiplicity or p(T). These findings suggest that the near-side ridge is accompanied by an essentially identical away-side ridge. (c) 2013 CERN. Published by Elsevier B.V. All rights reserved.
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| 3. |
- Abelev, Betty, et al.
(författare)
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Measurement of prompt J/psi and beauty hadron production cross sections at mid-rapidity in pp collisions at root s=7 TeV
- 2012
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Ingår i: Journal of High Energy Physics. - 1029-8479. ; :11
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Tidskriftsartikel (refereegranskat)abstract
- The ALICE experiment at the LHC has studied J/psi production at mid-rapidity in pp collisions at root s = 7 TeV through its electron pair decay on a data sample corresponding to an integrated luminosity L-int = 5.6 nb(-1). The fraction of J/psi from the decay of long-lived beauty hadrons was determined for J/psi candidates with transverse momentum p(t) > 1,3 GeV/c and rapidity vertical bar y vertical bar < 0.9. The cross section for prompt J/psi mesons, i.e. directly produced J/psi and prompt decays of heavier charmonium states such as the psi(2S) and chi(c) resonances, is sigma(prompt J/psi) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 8.3 +/- 0.8(stat.) +/- 1.1 (syst.)(-1.4)(+1.5) (syst. pol.) mu b. The cross section for the production of b-hadrons decaying to J/psi with p(t) > 1.3 GeV/c and vertical bar y vertical bar < 0.9 is a sigma(J/psi <- hB) (p(t) > 1.3 GeV/c, vertical bar y vertical bar < 0.9) = 1.46 +/- 0.38 (stat.)(-0.32)(+0.26) (syst.) mu b. The results are compared to QCD model predictions. The shape of the p(t) and y distributions of b-quarks predicted by perturbative QCD model calculations are used to extrapolate the measured cross section to derive the b (b) over bar pair total cross section and d sigma/dy at mid-rapidity.
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| 4. |
- Abelev, Betty, et al.
(författare)
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Underlying Event measurements in pp collisions at root s=0.9 and 7 TeV with the ALICE experiment at the LHC
- 2012
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Ingår i: Journal of High Energy Physics. - 1029-8479. ; :7
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Tidskriftsartikel (refereegranskat)abstract
- We present measurements of Underlying Event observables in pp collisions at root s = 0 : 9 and 7 TeV. The analysis is performed as a function of the highest charged-particle transverse momentum p(T),L-T in the event. Different regions are defined with respect to the azimuthal direction of the leading (highest transverse momentum) track: Toward, Transverse and Away. The Toward and Away regions collect the fragmentation products of the hardest partonic interaction. The Transverse region is expected to be most sensitive to the Underlying Event activity. The study is performed with charged particles above three different p(T) thresholds: 0.15, 0.5 and 1.0 GeV/c. In the Transverse region we observe an increase in the multiplicity of a factor 2-3 between the lower and higher collision energies, depending on the track p(T) threshold considered. Data are compared to PYTHIA 6.4, PYTHIA 8.1 and PHOJET. On average, all models considered underestimate the multiplicity and summed p(T) in the Transverse region by about 10-30%.
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| 5. |
- Andersson, Ulrika, et al.
(författare)
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Sex och straff
- 2011
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Ingår i: Festskrift till Per Ole Träskman. ; , s. 24-32
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Bokkapitel (refereegranskat)
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| 6. |
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| 7. |
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| 8. |
- Hansen-Axelsson, Helen
(författare)
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Breeding for sustainable milk production : from nucleus herds to genomic data
- 2013
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The overall aim of the research reported in this thesis was to investigate ways to mitigate deterioration in functional traits and reduce the environmental impact of milk production. The more specific objectives were to obtain new information about the selection of bull dams for functional traits in an open nucleus herd, to monitor ongoing genetic trends in functional traits, and to examine a breeding program with genomic selection and contractor herds that records specific indicator traits correlated with environmental impact. A breeding scheme with expanded recording of functional traits in potential bull dams in a nucleus herd was simulated. The genetic trend in functional traits was found to be unfavourable in all scenarios. Improved recording of functional traits did not limit the unfavourable genetic response in fertility and udder health traits unless more economic weight was placed on functional traits in the breeding goal. Genetic trends in fertility and udder health traits were estimated in Swedish Red dairy cattle. The estimated genetic trend for number of inseminations in lactating cows was unfavorable. The choice of model to be used for genetic evaluation influences the estimate of genetic trend, indicating that unfavorable genetic trends may not be discovered unless the traits are evaluated in a multiple-trait model including both functional and production traits. Substantial genetic progress in breeding for environmentally friendly cows can be achieved by including environmental impact in the breeding goal, and by using phenotype records and genomic information on correlated indicator traits. The most valuable indicator traits are those with a strong genetic correlation with environmental impact that also have a high accuracy of direct genomic values. Breakeven prices for recording the indicator trait were calculated for all scenarios. They varied considerably from one scenario to another, depending on the number of phenotype records on indicator traits. Recording an indicator trait could be both genetically and economically advantageous where the genetic correlation between the trait in question and environmental impact is strong, the trait has an optimal number of phenotype records, and the reliability of direct genomic values is moderately high.
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| 9. |
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| 10. |
- Hansen-Axelsson, Helen, et al.
(författare)
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Genomic selection using indicator traits to reduce the environmental impact of milk production
- 2013
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Ingår i: Journal of Dairy Science. - : American Dairy Science Association. - 0022-0302 .- 1525-3198. ; 96, s. 5306-5014
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this simulation study was to test the hypothesis that phenotype information of specific indicator traits of environmental importance recorded on a small-scale can be implemented in breeding schemes with genomic selection to reduce the environmental impact of milk production. A stochastic simulation was undertaken to test alternative breeding strategies. The breeding goal consisted of milk production, a functional trait, and environmental impact (EI). The indicator traits (IT) for EI were categorized as large-, medium-, or small-scale, depending on how the traits were recorded. The large-scale traits were stayability and stature; the medium-scale traits were live weight and methane in the breath of the cow measured during milking; and the small-scale traits were residual feed intake and methane recorded in a respiration chamber. Simulated scenarios considered information for just one IT in addition to information for milk production and functional traits. The annual monetary genetic gain was highest in the large-scale scenario that included stayability as IT. The annual monetary gain in the scenarios with medium- or small-scale IT varied from €50.5 to 47.5. The genetic gain improvement in EI was, however, best in the scenarios where the genetic correlation between IT and EI was ≥0.30 and the accuracy of direct genomic value was ≥0.40. The genetic gain in EI was 26 to 34% higher when indicator traits such as greenhouse gases in the breath of the cow and methane recorded in respiration chamber were used compared with a scenario where no indicator trait was included. It is possible to achieve increased genetic gain in EI by using a highly correlated indicator trait, but it requires that the established reference population for the indicator trait is large enough so that the accuracy of direct genomic values will be reasonably high.
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