744 research outputs found

    Genetic landscape of autism spectrum disorder in Vietnamese children

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    Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline was able to detect 18 unique variants (8 de novo and 10 ×-linked, all validated), including 12 newly discovered variants. Interestingly, a notable number of X-linked variants were detected (56%), and all of them were found in affected males but not in affected females. We uncovered 17 genes from our ASD cohort in which CHD8, DYRK1A, GRIN2B, SCN2A, OFD1 and MDB5 have been previously identified as ASD risk genes, suggesting the universal aetiology of ASD for these genes. In addition, we identified six genes that have not been previously reported in any autism database: CHM, ENPP1, IGF1, LAS1L, SYP and TBX22. Gene ontology and phenotype-genotype analysis suggested that variants in IGF1, SYP and LAS1L could plausibly confer risk for ASD. Taken together, this study adds to the genetic heterogeneity of ASD and is the first report elucidating the genetic landscape of ASD in Vietnamese children

    Regularity of Edge Ideals and Their Powers

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    We survey recent studies on the Castelnuovo-Mumford regularity of edge ideals of graphs and their powers. Our focus is on bounds and exact values of  reg I(G)\text{ reg } I(G) and the asymptotic linear function  reg I(G)q\text{ reg } I(G)^q, for q1,q \geq 1, in terms of combinatorial data of the given graph G.G.Comment: 31 pages, 15 figure

    Symbolic powers of monomial ideals and Cohen-Macaulay vertex-weighted digraphs

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    In this paper we study irreducible representations and symbolic Rees algebras of monomial ideals. Then we examine edge ideals associated to vertex-weighted oriented graphs. These are digraphs having no oriented cycles of length two with weights on the vertices. For a monomial ideal with no embedded primes we classify the normality of its symbolic Rees algebra in terms of its primary components. If the primary components of a monomial ideal are normal, we present a simple procedure to compute its symbolic Rees algebra using Hilbert bases, and give necessary and sufficient conditions for the equality between its ordinary and symbolic powers. We give an effective characterization of the Cohen--Macaulay vertex-weighted oriented forests. For edge ideals of transitive weighted oriented graphs we show that Alexander duality holds. It is shown that edge ideals of weighted acyclic tournaments are Cohen--Macaulay and satisfy Alexander dualityComment: Special volume dedicated to Professor Antonio Campillo, Springer, to appea

    Impact of Seawater Temperature on Coral Reefs in the Context of Climate Change. A Case Study of Cu Lao Cham – Hoi An Biosphere Reserve

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    Coral reefs are a natural habitat for many species, as well as being of high economic and touristic significance. However, they represent an extremely sensitive ecosystem with a narrow ecological limit: prolonged high temperatures can lead to bleaching, in which corals expel their symbiotic algae and eventually corals will degrade and die. Based on climate change projections from the Blue Communities regional model, using linear regression, exponential regression, polynomial regression, we found that by the decades 2041–2050 and 2051–2060, whether with RCP 4.5 or RCP 8.5, the environmental temperature will change beyond the coral capacity threshold. Of particular concern is RCP 8.5, where the number of weeks per decade in which SST exceeds the threshold of coral reef bleaching is up to 55, compared to 0 at the beginning of the century. As well, the El Niño phenomenon often heats up waters to abnormally high temperatures in Cu Lao Cham and, it is projected to rise even further. Consequently, the combination of climate change and El Niño will cause abnormal increases in the seawater environment beyond the coral resistance threshold, leading to degradation of this internationally important site. Decisive and practical action must be taken to deal with climate change in this part of the world

    Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector

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    Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente

    A review of the distribution of particulate trace elements in urban terrestrial environments and its application to considerations of risk

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    We review the evolution, state of the art and future lines of research on the sources, transport pathways, and sinks of particulate trace elements in urban terrestrial environments to include the atmosphere, soils, and street and indoor dusts. Such studies reveal reductions in the emissions of some elements of historical concern such as Pb, with interest consequently focusing on other toxic trace elements such as As, Cd, Hg, Zn, and Cu. While establishment of levels of these elements is important in assessing the potential impacts of human society on the urban environment, it is also necessary to apply this knowledge in conjunction with information on the toxicity of those trace elements and the degree of exposure of human receptors to an assessment of whether such contamination represents a real risk to the city’s inhabitants and therefore how this risk can be addressed

    Performance of missing transverse momentum reconstruction with the ATLAS detector using proton–proton collisions at √s = 13 TeV

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    The performance of the missing transverse momentum (EmissT) reconstruction with the ATLAS detector is evaluated using data collected in proton–proton collisions at the LHC at a centre-of-mass energy of 13 TeV in 2015. To reconstruct EmissT, fully calibrated electrons, muons, photons, hadronically decaying τ -leptons, and jets reconstructed from calorimeter energy deposits and charged-particle tracks are used. These are combined with the soft hadronic activity measured by reconstructed charged-particle tracks not associated with the hard objects. Possible double counting of contributions from reconstructed charged-particle tracks from the inner detector, energy deposits in the calorimeter, and reconstructed muons from the muon spectrometer is avoided by applying a signal ambiguity resolution procedure which rejects already used signals when combining the various EmissT contributions. The individual terms as well as the overall reconstructed EmissT are evaluated with various performance metrics for scale (linearity), resolution, and sensitivity to the data-taking conditions. The method developed to determine the systematic uncertainties of the EmissT scale and resolution is discussed. Results are shown based on the full 2015 data sample corresponding to an integrated luminosity of 3.2 fb−1

    Operation and performance of the ATLAS Tile Calorimeter in Run 1

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    The Tile Calorimeter is the hadron calorimeter covering the central region of the ATLAS experiment at the Large Hadron Collider. Approximately 10,000 photomultipliers collect light from scintillating tiles acting as the active material sandwiched between slabs of steel absorber. This paper gives an overview of the calorimeter’s performance during the years 2008–2012 using cosmic-ray muon events and proton–proton collision data at centre-of-mass energies of 7 and 8TeV with a total integrated luminosity of nearly 30 fb−1. The signal reconstruction methods, calibration systems as well as the detector operation status are presented. The energy and time calibration methods performed excellently, resulting in good stability of the calorimeter response under varying conditions during the LHC Run 1. Finally, the Tile Calorimeter response to isolated muons and hadrons as well as to jets from proton–proton collisions is presented. The results demonstrate excellent performance in accord with specifications mentioned in the Technical Design Report

    Measurement of the t¯tZ and t¯tW cross sections in proton-proton collisions at √s=13 TeV with the ATLAS detector

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    A measurement of the associated production of a top-quark pair (t¯t) with a vector boson (W, Z) in proton-proton collisions at a center-of-mass energy of 13 TeV is presented, using 36.1  fb−1 of integrated luminosity collected by the ATLAS detector at the Large Hadron Collider. Events are selected in channels with two same- or opposite-sign leptons (electrons or muons), three leptons or four leptons, and each channel is further divided into multiple regions to maximize the sensitivity of the measurement. The t¯tZ and t¯tW production cross sections are simultaneously measured using a combined fit to all regions. The best-fit values of the production cross sections are σt¯tZ=0.95±0.08stat±0.10syst pb and σt¯tW=0.87±0.13stat±0.14syst pb in agreement with the Standard Model predictions. The measurement of the t¯tZ cross section is used to set constraints on effective field theory operators which modify the t¯tZ vertex

    Combined measurement of differential and total cross sections in the H → γγ and the H → ZZ* → 4ℓ decay channels at s=13 TeV with the ATLAS detector

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    A combined measurement of differential and inclusive total cross sections of Higgs boson production is performed using 36.1 fb−1 of 13 TeV proton–proton collision data produced by the LHC and recorded by the ATLAS detector in 2015 and 2016. Cross sections are obtained from measured H→γγ and H→ZZ*(→4ℓ event yields, which are combined taking into account detector efficiencies, resolution, acceptances and branching fractions. The total Higgs boson production cross section is measured to be 57.0−5.9 +6.0 (stat.) −3.3 +4.0 (syst.) pb, in agreement with the Standard Model prediction. Differential cross-section measurements are presented for the Higgs boson transverse momentum distribution, Higgs boson rapidity, number of jets produced together with the Higgs boson, and the transverse momentum of the leading jet. The results from the two decay channels are found to be compatible, and their combination agrees with the Standard Model predictions
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