0000000000904664
AUTHOR
J Erdmann
Genome-Wide Haplotype Analysis of Cis Expression Quantitative Trait Loci in Monocytes
In order to assess whether gene expression variability could be influenced by several SNPs acting in cis, either through additive or more complex haplotype effects, a systematic genome-wide search for cis haplotype expression quantitative trait loci (eQTL) was conducted in a sample of 758 individuals, part of the Cardiogenics Transcriptomic Study, for which genome-wide monocyte expression and GWAS data were available. 19,805 RNA probes were assessed for cis haplotypic regulation through investigation of ∼2,1×109 haplotypic combinations. 2,650 probes demonstrated haplotypic p-values >104-fold smaller than the best single SNP p-value. Replication of significant haplotype effects were tested f…
Search for anomaly-mediated supersymmetry breaking with the ATLAS detector based on a disappearing-track signature in $pp$ collisions at $\sqrt{s}=7$ TeV
In models of anomaly-mediated supersymmetry breaking (AMSB), the lightest chargino is predicted to have a lifetime long enough to be detected in collider experiments. This letter explores AMSB scenarios in pp collisions at s√=7 TeV by attempting to identify decaying charginos which result in tracks that appear to have few associated hits in the outer region of the tracking system. The search was based on data corresponding to an integrated luminosity of 1.02 fb[superscript −1] collected with the ATLAS detector in 2011. The pT spectrum of candidate tracks is found to be consistent with the expectation from Standard Model background processes and constraints on the lifetime and the production…
Electron performance measurements with the ATLAS detector using the 2010 LHC proton-proton collision data
Acknowledgements We thank CERN for the very successful operation of the LHC, as well as the support staff from our institutions without whom ATLAS could not be operated efficiently. We acknowledge the support of ANPCyT, Argentina; YerPhI, Armenia; ARC, Australia; BMWF, Austria; ANAS, Azerbaijan; SSTC, Belarus; CNPq and FAPESP, Brazil; NSERC, NRC and CFI, Canada; CERN; CONICYT, Chile; CAS, MOST and NSFC, China; COLCIENCIAS, Colombia; MSMT CR, MPO CR and VSC CR, Czech Republic; DNRF, DNSRC and Lundbeck Foundation, Denmark; ARTEMIS, European Union; IN2P3-CNRS, CEA-DSM/IRFU, France; GNAS, Georgia; BMBF, DFG, HGF, MPG and AvH Foundation, Germany; GSRT, Greece; ISF, MINERVA, GIF, DIP and Benoziyo…
Measurement of the inclusive and dijet cross-sections of b-jets in pp collisions at √s = 7 TeV with the ATLAS detector
The inclusive and dijet production cross-sections have been measured for jets containing b-hadrons (b-jets) in proton–proton collisions at a centre-of-mass energy of √s =7 TeV, using the ATLAS detector at the LHC. The measurements use data corresponding to an integrated luminosity of 34 pb[superscript −1]. The b-jets are identified using either a lifetime-based method, where secondary decay vertices of b-hadrons in jets are reconstructed using information from the tracking detectors, or a muon-based method where the presence of a muon is used to identify semileptonic decays of b-hadrons inside jets. The inclusive b-jet cross-section is measured as a function of transverse momentum in the ra…
Search for supersymmetry in events with large missing transverse momentum, jets, and at least one tau lepton in 7 TeV proton-proton collision data with the ATLAS detector
A search for supersymmetry (SUSY) in events with large missing transverse momentum, jets, and at least one hadronically decaying τ lepton, with zero or one additional light lepton (e/μ), has been performed using 4.7 fb[superscript −1] of proton-proton collision data at √s = 7 TeV recorded with the ATLAS detector at the Large Hadron Collider. No excess above the Standard Model background expectation is observed and a 95 % confidence level visible cross-sectionupper limit for new phenomena is set. In the framework of gauge-mediated SUSY-breaking models, lower limits on the mass scale Λ are set at 54 TeV in the regions where the [bar over τ]1 is the next-to-lightest SUSY particle (tanβ > 20). …
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene
The chromosome 16p13 region has been associated with several autoimmune diseases, including type 1 diabetes (T1D) and multiple sclerosis (MS). CLEC16A has been reported as the most likely candidate gene in the region, since it contains the most disease-associated single-nucleotide polymorphisms (SNPs), as well as an imunoreceptor tyrosine-based activation motif. However, here we report that intron 19 of CLEC16A, containing the most autoimmune disease-associated SNPs, appears to behave as a regulatory sequence, affecting the expression of a neighbouring gene, DEXI. The CLEC16A alleles that are protective from T1D and MS are associated with increased expression of DEXI, and no other genes in …
Measurement of the Lund jet plane using charged particles in 13 TeV proton-proton collisions with the ATLAS detector
The prevalence of hadronic jets at the LHC requires that a deep understanding of jet formation and structure is achieved in order to reach the highest levels of experimental and theoretical precision. There have been many measurements of jet substructure at the LHC and previous colliders, but the targeted observables mix physical effects from various origins. Based on a recent proposal to factorize physical effects, this Letter presents a double-differential cross-section measurement of the Lund jet plane using 139 fb−1 of √s=13 TeV proton-proton collision data collected with the ATLAS detector using jets with transverse momentum above 675 GeV. The measurement uses charged particles to ac…
Improved luminosity determination in pp collisions at root s=7 TeV using the ATLAS detector at the LHC
The luminosity calibration for the ATLAS detector at the LHC during pp collisions at sqrt(s) = 7 TeV in 2010 and 2011 is presented. Evaluation of the luminosity scale is performed using several luminosity-sensitive detectors, and comparisons are made of the long-term stability and accuracy of this calibration applied to the pp collisions at sqrt(s) = 7 TeV. A luminosity uncertainty of Delta L/L = +/- 3.5% is obtained for the 47 pb-1 of data delivered to ATLAS in 2010, and an uncertainty of Delta L/L = +/- 1.8% is obtained for the 5.5 fb-1 delivered in 2011.
Studies of the performance of the ATLAS detector using cosmic-ray muons
Muons from cosmic-ray interactions in the atmosphere provide a high-statistics source of particles that can be used to study the performance and calibration of the ATLAS detector. Cosmic-ray muons can penetrate to the cavern and deposit energy in all detector subsystems. Such events have played an important role in the commissioning of the detector since the start of the installation phase in 2005 and were particularly important for understanding the detector performance in the time prior to the arrival of the first LHC beams. Global cosmic-ray runs were undertaken in both 2008 and 2009 and these data have been used through to the early phases of collision data-taking as a tool for calibrat…
Search for massive colored scalars in four-jet final states in √s = 7 TeV proton–proton collisions with the ATLAS detector
A search for pair-produced scalar particles decaying to a four-jet final state is presented. The analysis is performed using an integrated luminosity of 34 pb[superscript −1] recorded by the ATLAS detector in 2010. No deviation from the Standard Model is observed. For a scalar mass of 100 GeV (190 GeV) the limit on the scalar gluon pair production cross section at 95% confidence level is 1 nb (0.28 nb). When these results are interpreted as mass limits, scalar-gluons (hyperpions) with masses of 100 to 185 GeV (100 to 155 GeV) are excluded at 95% confidence level with the exception of a mass window of width about 5 GeV (15 GeV) around 140 GeV.
Defining the role of common variation in the genomic and biological architecture of adult human height
Item does not contain fulltext 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 approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 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…
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
1. The CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 2011;43:333–338. ### Study Hypothesis Recently, genome-wide association studies (GWAS) have identified several common variants that are associated with risk of coronary artery disease (CAD) and myocardial infarction (MI). The authors state that the current loci discovered in CAD and MI GWAS explain only a small fraction of the heritability of this complex disease. The authors hypothesized that a larger study would provide more power to discover common variants with modest effect sizes. Therefore, they formed the Coronary ARtery DIsease Genome-wid…
Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through w…
Search for light scalar top quark pair production in final states with two leptons with the ATLAS detector in sqrt(s) = 7 TeV proton-proton collisions
A search is presented for the pair production of light scalar top quarks in s√=7 TeV proton–proton collisions recorded with the ATLAS detector at the Large Hadron Collider. This analysis uses the full data sample collected during 2011 running that corresponds to a total integrated luminosity of 4.7 fb[superscript −1]. Light scalar top quarks are searched for in events with two opposite-sign leptons (e, μ), large missing transverse momentum and at least one jet in the final state. No excess over Standard Model expectations is found, and the results are interpreted under the assumption that the light scalar top decays to a b-quark in addition to an on-shell chargino whose decay occurs through…
Search for supersymmetry in events with photons, bottom quarks, and missing transverse momentum in proton-proton collisions at a centre-of-mass energy of 7 TeV with the ATLAS detector
A search has been performed for the experimental signature of an isolated photon with high transverse momentum, at least one jet identified as originating from a bottom quark, and high missing transverse momentum. Such a final state may originate from supersymmetric models with gauge-mediated supersymmetry breaking in events in which one of a pair of higgsino-like neutralinos decays into a photon and a gravitino while the other decays into a Higgs boson and a gravitino. The search is performed using the full dataset of 7 TeV proton–proton collisions recorded with the ATLAS detector at the LHC in 2011, corresponding to an integrated luminosity of 4.7 fb−1. A total of 7 candidate events are o…
Search for supersymmetric particles in events with lepton pairs and large missing transverse momentum in sqrt{s} = 7 TeV proton-proton collisions with the ATLAS experiment
Results are presented of searches for the production of supersymmetric particles decaying into final states with missing transverse momentum and exactly two isolated leptons in √ s = 7 TeV proton–proton collisions at the Large Hadron Collider. Search strategies requiring lepton pairs with identical-sign or opposite-sign electric charges are described. In a data sample corresponding to an integrated luminosity of 35 pb−1 collected with the ATLAS detector, no significant excesses are observed. Based on specific benchmark models, limits are placed on the squark mass between 450 and 690 GeV for squarks approximately degenerate in mass with gluinos, depending on the supersymmetric mass hierarchy…
Search for pair-produced massive coloured scalars in four-jet final states with the ATLAS detector in proton–proton collisions at √s =7 TeV
A search for pair-produced massive coloured scalar particles decaying to a four-jet final state is performed by the ATLAS experiment at the LHC in proton–proton collisions at √s = 7 TeV. The analysed data sample corresponds to an integrated luminosity of 4.6 fb[superscript −1]. No deviation from the Standard Model is observed in the invariant mass spectrum of the two-jet pairs. A limit on the scalar gluon pair production cross section of 70 pb (10 pb) is obtained at the 95 % confidence level for a scalar gluon mass of 150 GeV (350 GeV). Interpreting these results as mass limits on scalar gluons, masses ranging from 150 GeV to 287 GeV are excluded at the 95 % confidence level.
Search for a heavy top-quark partner in final states with two leptons with the ATLAS detector at the LHC
The results of a search for direct pair production of heavy top-quark partners in 4.7 fb[superscript −1] of integrated luminosity from pp collisions at s√ = 7 TeV collected by the ATLAS detector at the LHC are reported. Heavy top-quark partners decaying into a top quark and a neutral non-interacting particle are searched for in events with two leptons in the final state. No excess above the Standard Model expectation is observed. Limits are placed on the mass of a supersymmetric scalar top and of a spin-1/2 top-quark partner. A spin-1/2 top-quark partner with a mass between 300 GeV and 480 GeV, decaying to a top quark and a neutral non-interacting particle lighter than 100 GeV, is excluded …
Performance of the ATLAS detector using first collision data
More than half a million minimum-bias events of LHC collision data were collected by the ATLAS experiment in December 2009 at centre-of-mass energies of 0.9 TeV and 2.36 TeV. This paper reports on studies of the initial performance of the ATLAS detector from these data. Comparisons between data and Monte Carlo predictions are shown for distributions of several track- and calorimeter-based quantities. The good performance of the ATLAS detector in these first data gives confidence for successful running at higher energies.