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1.
  • Jiang, X., et al. (författare)
  • Shared heritability and functional enrichment across six solid cancers
  • 2019
  • Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 10
  • Tidskriftsartikel (refereegranskat)abstract
    • Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (r(g) = 0.57, p = 4.6 x 10(-8)), breast and ovarian cancer (r(g) = 0.24, p = 7 x 10(-5)), breast and lung cancer (r(g) = 0.18, p = 1.5 x 10(-6)) and breast and colorectal cancer (r(g) = 0.15, p = 1.1 x 10(-4)). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
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2.
  • Locke, Adam E, et al. (författare)
  • Genetic studies of body mass index yield new insights for obesity biology.
  • 2015
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
  • Tidskriftsartikel (refereegranskat)abstract
    • Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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3.
  • Schmit, Stephanie L, et al. (författare)
  • Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
  • 2018
  • Ingår i: Journal of the National Cancer Institute. - : Oxford University Press. - 0027-8874 .- 1460-2105.
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk.Methods: We conducted a GWAS in European descent CRC cases and control subjects using a discovery-replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants with a minor allele frequency of 1% or greater associated with risk of CRC using logistic regression followed by a fixed-effects inverse variance weighted meta-analysis. All novel independent variants reaching genome-wide statistical significance (two-sided P < 5 × 10-8) were tested for replication in separate European ancestry samples (12 952 case subjects/48 383 control subjects). Next, we examined the generalizability of discovered variants in East Asians, African Americans, and Hispanics (12 085 case subjects/22 083 control subjects). Finally, we examined the contributions of novel risk variants to familial relative risk and examined the prediction capabilities of a polygenic risk score. All statistical tests were two-sided.Results: The discovery GWAS identified 11 variants associated with CRC at P < 5 × 10-8, of which nine (at 4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13) independently replicated at a P value of less than .05. Multiethnic follow-up supported the generalizability of discovery findings. These results demonstrated a 14.7% increase in familial relative risk explained by common risk alleles from 10.3% (95% confidence interval [CI] = 7.9% to 13.7%; known variants) to 11.9% (95% CI = 9.2% to 15.5%; known and novel variants). A polygenic risk score identified 4.3% of the population at an odds ratio for developing CRC of at least 2.0.Conclusions: This study provides insight into the architecture of common genetic variation contributing to CRC etiology and improves risk prediction for individualized screening.
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4.
  • Wood, Andrew R, et al. (författare)
  • Defining the role of common variation in the genomic and biological architecture of adult human height.
  • 2014
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1546-1718 .- 1061-4036. ; 46:11, s. 1173-1186
  • Tidskriftsartikel (refereegranskat)abstract
    • Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.
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5.
  • Aad, G., et al. (författare)
  • A measurement of the ratio of the W and Z cross sections with exactly one associated jet in pp collisions at root s=7 TeV with ATLAS
  • 2012
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693 .- 1873-2445. ; 708:3-5, s. 221-240
  • Tidskriftsartikel (refereegranskat)abstract
    • The ratio of production cross sections of the W and Z bosons with exactly one associated jet is presented as a function of jet transverse momentum threshold. The measurement has been designed to maximise cancellation of experimental and theoretical uncertainties, and is reported both within a particle-level kinematic range corresponding to the detector acceptance and as a total cross-section ratio. Results are obtained with the ATLAS detector at the LHC in pp collisions at a centre-of-mass energy of 7 TeV using an integrated luminosity of 33 pb(-1). The results are compared with perturbative leading-order, leading-log, and next-to-leading-order QCD predictions, and are found to agree within experimental and theoretical uncertainties. The ratio is measured for events with a single jet with p(T) > 30 GeV to be 8.73 +/- 0.30(stat) +/- 0.40(syst) in the electron channel, and 8.49 +/- 0.23(stat) +/- 0.33(syst) in the muon channel. (C) 2012 CERN. Published by Elsevier B.V. All rights reserved.
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6.
  • Aad, G., et al. (författare)
  • A search for new physics in dijet mass and angular distributions in pp collisions at root s=7 TeV measured with the ATLAS detector
  • 2011
  • Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 13
  • Tidskriftsartikel (refereegranskat)abstract
    • A search for new interactions and resonances produced in LHC proton-proton (pp) collisions at a centre-of-mass energy root s = 7 TeV was performed with the ATLAS detector. Using a dataset with an integrated luminosity of 36 pb(-1), dijet mass and angular distributions were measured up to dijet masses of similar to 3.5 TeV and were found to be in good agreement with Standard Model predictions. This analysis sets limits at 95% CL on various models for new physics: an excited quark is excluded for mass between 0.60 and 2.64 TeV, an axigluon hypothesis is excluded for axigluon masses between 0.60 and 2.10 TeV and quantum black holes are excluded in models with six extra space-time dimensions for quantum gravity scales between 0.75 and 3.67 TeV. Production cross section limits as a function of dijet mass are set using a simplified Gaussian signal model to facilitate comparisons with other hypotheses. Analysis of the dijet angular distribution using a novel technique simultaneously employing the dijet mass excludes quark contact interactions with a compositeness scale 3 below 9.5 TeV.
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7.
  • Aad, G., et al. (författare)
  • A study of the material in the ATLAS inner detector using secondary hadronic interactions
  • 2012
  • Ingår i: Journal of Instrumentation. - : IOP Publishing. - 1748-0221. ; 7
  • Tidskriftsartikel (refereegranskat)abstract
    • The ATLAS inner detector is used to reconstruct secondary vertices due to hadronic interactions of primary collision products, so probing the location and amount of material in the inner region of ATLAS. Data collected in 7 TeV pp collisions at the LHC, with a minimum bias trigger, are used for comparisons with simulated events. The reconstructed secondary vertices have spatial resolutions ranging from similar to 200 mu m to 1 mm. The overall material description in the simulation is validated to within an experimental uncertainty of about 7%. This will lead to a better understanding of the reconstruction of various objects such as tracks, leptons, jets, and missing transverse momentum.
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8.
  • Aad, G., et al. (författare)
  • ATLAS measurements of the properties of jets for boosted particle searches
  • 2012
  • Ingår i: Physical Review D (Particles, Fields, Gravitation and Cosmology). - : American Physical Society. - 1550-2368 .- 1550-7998. ; 86:7
  • Tidskriftsartikel (refereegranskat)abstract
    • Measurements are presented of the properties of high transverse momentum jets, produced in proton-proton collisions at a center-of-mass energy of root s = 7 TeV. The data correspond to an integrated luminosity of 35 pb(-1) and were collected with the ATLAS detector in 2010. Jet mass, width, eccentricity, planar flow and angularity are measured for jets reconstructed using the anti-k(t) algorithm with distance parameters R 0: 6 and 1.0, with transverse momentum p(T) > 300 GeV and pseudorapidity vertical bar eta vertical bar < 2. The measurements are compared to the expectations of Monte Carlo generators that match leading-logarithmic parton showers to leading-order, or next-to-leading-order, matrix elements. The generators describe the general features of the jets, although discrepancies are observed in some distributions.
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9.
  • Aad, G., et al. (författare)
  • Charged-particle multiplicities in pp interactions at root s=900 GeV measured with the ATLAS detector at the LHC ATLAS Collaboration
  • 2010
  • Ingår i: Physics Letters. Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier. - 0370-2693 .- 1873-2445. ; 688:1, s. 21-42
  • Tidskriftsartikel (refereegranskat)abstract
    • The first measurements from proton-proton collisions recorded with the ATLAS detector at the LHC are presented. Data were collected in December 2009 using a minimum-bias trigger during collisions at a centre-of-mass energy of 900 GeV. The charged-particle multiplicity, its dependence on transverse momentum and pseudorapidity, and the relationship between mean transverse momentum and charged-particle multiplicity are measured for events with at least one charged particle in the kinematic range vertical bar eta vertical bar < 2.5 and p(T) > 500 MeV. The measurements are compared to Monte Carlo models of proton-proton collisions and to results from other experiments at the same centre-of-mass energy. The charged-particle multiplicity per event and unit of pseudorapidity eta = 0 is measured to be 1.333 +/- 0.003(stat.) +/- 0.040(syst.), which is 5-15% higher than the Monte Carlo models predict. 2010 Published by Elsevier B.V.
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10.
  • Aad, G., et al. (författare)
  • Charged-particle multiplicities in pp interactions measured with the ATLAS detector at the LHC
  • 2011
  • Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 13
  • Tidskriftsartikel (refereegranskat)abstract
    • Measurements are presented from proton-proton collisions at centre-of-mass energies of root s = 0.9, 2.36 and 7 TeV recorded with the ATLAS detector at the LHC. Events were collected using a single-arm minimum-bias trigger. The charged-particle multiplicity, its dependence on transverse momentum and pseudorapidity and the relationship between the mean transverse momentum and charged-particle multiplicity are measured. Measurements in different regions of phase space are shown, providing diffraction-reduced measurements as well as more inclusive ones. The observed distributions are corrected to well-defined phase-space regions, using model-independent corrections. The results are compared to each other and to various Monte Carlo (MC) models, including a new AMBT1 pythia6 tune. In all the kinematic regions considered, the particle multiplicities are higher than predicted by the MC models. The central charged-particle multiplicity per event and unit of pseudorapidity, for tracks with p(T) > 100 MeV, is measured to be 3.483 +/- 0.009 (stat) +/- 0.106 (syst) at root s = 0.9 TeV and 5.630 +/- 0.003 (stat) +/- 0.169 (syst) at root s = 7 TeV.
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